Susan Perlman

Title(s)HS Clinical Professor, Neurology
SchoolMedicine
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    Publications listed below are automatically derived from MEDLINE/PubMed and other sources, which might result in incorrect or missing publications. Researchers can login to make corrections and additions, or contact us for help. to make corrections and additions.
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    Altmetrics Details PMC Citations indicate the number of times the publication was cited by articles in PubMed Central, and the Altmetric score represents citations in news articles and social media. (Note that publications are often cited in additional ways that are not shown here.) Fields are based on how the National Library of Medicine (NLM) classifies the publication's journal and might not represent the specific topic of the publication. Translation tags are based on the publication type and the MeSH terms NLM assigns to the publication. Some publications (especially newer ones and publications not in PubMed) might not yet be assigned Field or Translation tags.) Click a Field or Translation tag to filter the publications.
    1. Clinical, Radiological and Pathological Features of a Large American Cohort of Spinocerebellar Ataxia (SCA27B). Ann Neurol. 2024 Dec; 96(6):1092-1103. Abou Chaar W, Eranki AN, Stevens HA, Watson SL, Wong DY, Avila VS, Delfeld M, Gary AJ, Tawde S, Triebold M, Cherchi M, Xie T, Lockhart PJ, Bahlo M, Pellerin D, Dicaire MJ, Danzi M, Zuchner S, Brais BC, Perlman S, Burmeister M, Paulson H, Srinivasan S, Schut L, Bower M, Bushara K, Liao C, Shakkottai VG, Collins J, Clark HB, Das S, Fogel BL, Gomez CM. PMID: 39263992; PMCID: PMC11563892.
      View in: PubMed   Mentions:    Fields:    Translation:HumansCells
    2. Constructing the "Family Personality": Can Family Functioning Be Linked to Parent-Child Interpersonal Neural Synchronization? J Pers. 2024 Sep 09. Thompson KI, Schneider CJ, Rocha-Hidalgo J, Jeyaram S, Mata-Centeno B, Furtado E, Vachhani S, Pérez-Edgar K, Perlman SB. PMID: 39248009.
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    3. Assessment of the reliability, responsiveness, and meaningfulness of the scale for the assessment and rating of ataxia (SARA) for lysosomal storage disorders. J Neurol. 2024 Oct; 271(10):6888-6902. Park J, Bremova-Ertl T, Brands M, Foltan T, Gautschi M, Gissen P, Hahn A, Jones S, Arash-Kaps L, Kolnikova M, Patterson M, Perlman S, Ramaswami U, Reichmannová S, Rohrbach M, Schneider SA, Shaikh A, Sivananthan S, Synofzik M, Walterfarng M, Wibawa P, Martakis K, Manto M. PMID: 39225743; PMCID: PMC11447074.
      View in: PubMed   Mentions:    Fields:    Translation:Humans
    4. Safety and efficacy of intra-erythrocyte dexamethasone sodium phosphate in children with ataxia telangiectasia (ATTeST): a multicentre, randomised, double-blind, placebo-controlled phase 3 trial. Lancet Neurol. 2024 Sep; 23(9):871-882. Zielen S, Crawford T, Benatti L, Magnani M, Kieslich M, Ryan M, Meyts I, Gulati S, Borgohain R, Yadav R, Pal P, Hegde A, Kumar S, Venkateswar A, Udani V, Vinayan KP, Nissenkorn A, Fazzi E, Leuzzi V, Stray-Pedersen A, Pietrucha B, Pascual SI, Gouider R, Koenig MK, Wu S, Perlman S, Thye D, Janhofer G, Horn B, Whitehouse W, Lederman H. PMID: 39152028.
      View in: PubMed   Mentions:    Fields:    Translation:HumansCellsCTClinical Trials
    5. Safety and efficacy of intra-erythrocyte dexamethasone sodium phosphate in children with ataxia telangiectasia (ATTeST): a multicentre, randomised, double-blind, placebo-controlled phase 3 trial. Lancet Neurol. 2024 Sep; 23(9):871-882. Zielen S, Crawford T, Benatti L, Magnani M, Kieslich M, Ryan M, Meyts I, Gulati S, Borgohain R, Yadav R, Pal P, Hegde A, Kumar S, Venkateswar A, Udani V, Vinayan KP, Nissenkorn A, Fazzi E, Leuzzi V, Stray-Pedersen A, Pietrucha B, Pascual SI, Gouider R, Koenig MK, Wu S, Perlman S, Thye D, Janhofer G, Horn B, Whitehouse W, Lederman H. PMID: 39152028.
      View in: PubMed   Mentions:    Fields:    Translation:HumansCellsCTClinical Trials
    6. SARA captures disparate progression and responsiveness in spinocerebellar ataxias. J Neurol. 2024 Jul; 271(7):3743-3753. Petit E, Schmitz-Hübsch T, Coarelli G, Jacobi H, Heinzmann A, Figueroa KP, Perlman SL, Gomez CM, Wilmot GR, Schmahmann JD, Ying SH, Zesiewicz TA, Paulson HL, Shakkottai VG, Bushara KO, Kuo SH, Geschwind MD, Xia G, Pulst SM, Subramony SH, Ewenczyk C, Brice A, Durr A, Klockgether T, Ashizawa T, Tezenas du Montcel S. PMID: 38822840.
      View in: PubMed   Mentions: 1     Fields:    Translation:Humans
    7. Video-Based Kinematic Analysis of Movement Quality in a Phase 3 Clinical Trial of Troriluzole in Adults with Spinocerebellar Ataxia: A Post Hoc Analysis. Neurol Ther. 2024 Aug; 13(4):1287-1301. L'Italien GJ, Oikonomou EK, Khera R, Potashman MH, Beiner MW, Maclaine GDH, Schmahmann JD, Perlman S, Coric V. PMID: 38814532; PMCID: PMC11263303.
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    8. Long non-coding RNA TUG1 is downregulated in Friedreich's ataxia. Brain Commun. 2024; 6(3):fcae170. Koka M, Li H, Akther R, Perlman S, Wong D, Fogel BL, Lynch DR, Chandran V. PMID: 38846537; PMCID: PMC11154142.
      View in: PubMed   Mentions:
    9. CRPD frontiers in movement disorders Therapeutics: From evidence to treatment and applications: Addressing Patients' Needs in the Management of the Ataxias. Clin Park Relat Disord. 2024; 10:100255. Perlman SL. PMID: 38798918; PMCID: PMC11126860.
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    10. Content Validity of the Modified Functional Scale for the Assessment and Rating of Ataxia (f-SARA) Instrument in Spinocerebellar Ataxia. Cerebellum. 2024 Oct; 23(5):2012-2027. Potashman M, Rudell K, Pavisic I, Suminski N, Doma R, Heinrich M, Abetz-Webb L, Beiner MW, Kuo SH, Rosenthal LS, Zesiwicz T, Fife TD, van de Warrenburg BP, Ristori G, Synofzik M, Perlman S, Schmahmann JD, L'Italien G. PMID: 38713312; PMCID: PMC11489265.
      View in: PubMed   Mentions: 1     Fields:    Translation:Humans
    11. Development and Validation of SCACOMS, a Composite Scale for Assessing Disease Progression and Treatment Effects in Spinocerebellar Ataxia. Cerebellum. 2024 Oct; 23(5):2028-2041. L'Italien G, Popoff E, Rogula B, Powell L, Potashman M, Dickson S, O'Keefe P, Beiner M, Coric V, Perlman S, Schmahmann JD, Hendrix S. PMID: 38710966; PMCID: PMC11489241.
      View in: PubMed   Mentions:    Fields:    Translation:Humans
    12. Evaluating mFARS in pediatric Friedreich's ataxia: Insights from the FACHILD study. Ann Clin Transl Neurol. 2024 May; 11(5):1290-1300. Rummey C, Perlman S, Subramony SH, Farmer J, Lynch DR. PMID: 38556905; PMCID: PMC11093230.
      View in: PubMed   Mentions: 1     Fields:    Translation:Humans
    13. Standing Balance Conditions and Digital Sway Measures for Clinical Trials of Friedreich's Ataxia. Mov Disord. 2024 Jun; 39(6):996-1005. Casey HL, Shah VV, Muzyka D, McNames J, El-Gohary M, Sowalsky K, Safarpour D, Carlson-Kuhta P, Schmahmann JD, Rosenthal LS, Perlman S, Rummey C, Horak FB, Gomez CM. PMID: 38469957.
      View in: PubMed   Mentions:    Fields:    Translation:Humans
    14. Characterization of Cardiac-Onset Initial Presentation in Friedreich Ataxia. Pediatr Cardiol. 2024 Mar 01. Lynch DR, Subramony S, Lin KY, Mathews K, Perlman S, Yoon G, Rummey C. PMID: 38427090.
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    15. Fatigue Impacts Quality of Life in People with Spinocerebellar Ataxias. Mov Disord Clin Pract. 2024 May; 11(5):496-503. Lai RY, Rummey C, Amlang CJ, Lin CR, Chen TX, Perlman S, Wilmot G, Gomez CM, Schmahmann JD, Paulson H, Ying SH, Onyike CU, Zesiewicz TA, Bushara KO, Geschwind MD, Figueroa KP, Pulst SM, Subramony SH, Burns MR, Opal P, Duquette A, Ashizawa T, Hamedani AG, Davis MY, Srinivasan SR, Moore LR, Shakkottai VG, Rosenthal LS, Kuo SH. PMID: 38419568; PMCID: PMC11078491.
      View in: PubMed   Mentions:    Fields:    Translation:Humans
    16. Digital Measures of Postural Sway Quantify Balance Deficits in Spinocerebellar Ataxia. Mov Disord. 2024 Apr; 39(4):663-673. Shah VV, Muzyka D, Jagodinsky A, McNames J, Casey H, El-Gohary M, Sowalsky K, Safarpour D, Carlson-Kuhta P, Schmahmann JD, Rosenthal LS, Perlman S, Horak FB, Gomez CM. PMID: 38357985.
      View in: PubMed   Mentions:    Fields:    Translation:Humans
    17. Omaveloxolone for the treatment of Friedreich ataxia: clinical trial results and practical considerations. Expert Rev Neurother. 2024 Mar; 24(3):251-258. Lynch DR, Perlman S, Schadt K. PMID: 38269532.
      View in: PubMed   Mentions:    Fields:    Translation:Humans
    18. The Cerebellar Cognitive Affective/Schmahmann Syndrome Scale in Spinocerebellar Ataxias. Cerebellum. 2024 Aug; 23(4):1411-1425. Selvadurai LP, Perlman SL, Ashizawa T, Wilmot GR, Onyike CU, Rosenthal LS, Shakkottai VG, Paulson HL, Subramony SH, Bushara KO, Kuo SH, Dietiker C, Geschwind MD, Nelson AB, Gomez CM, Opal P, Zesiewicz TA, Hawkins T, Yacoubian TA, Nopoulos PC, Sha SJ, Morrison PE, Figueroa KP, Pulst SM, Schmahmann JD. PMID: 38165578; PMCID: PMC11217149.
      View in: PubMed   Mentions: 1     Fields:    Translation:Humans
    19. A network approach to the investigation of childhood irritability: probing frustration using social stimuli. J Child Psychol Psychiatry. 2024 Jul; 65(7):959-972. Thompson KI, Schneider CJ, Lopez-Roque JA, Perlman SB, Karim HT, Wakschlag LS. PMID: 38124618; PMCID: PMC11161318.
      View in: PubMed   Mentions:    Fields:    Translation:Humans
    20. Frataxin analysis using triple quadrupole mass spectrometry: application to a large heterogeneous clinical cohort. J Neurol. 2024 Apr; 271(4):1844-1849. Lynch DR, Rojsajjakul T, Subramony SH, Perlman SL, Keita M, Mesaros C, Blair IA. PMID: 38063871.
      View in: PubMed   Mentions: 1     Fields:    Translation:Humans
    21. Using Smartphone Sensors for Ataxia Trials: Consensus Guidance by the Ataxia Global Initiative Working Group on Digital-Motor Biomarkers. Cerebellum. 2024 Jun; 23(3):912-923. Németh AH, Antoniades CA, Dukart J, Minnerop M, Rentz C, Schuman BJ, van de Warrenburg B, Willemse I, Bertini E, Gupta AS, de Mello Monteiro CB, Almoajil H, Quinn L, Perlman SB, Horak F, Ilg W, Traschütz A, Vogel AP, Dawes H, AGI Digital-Motor Biomarkers Working Group. PMID: 38015365; PMCID: PMC11102363.
      View in: PubMed   Mentions: 1     Fields:    Translation:Humans
    22. Disparities in Huntington Disease Severity: Analysis Using the ENROLL-HD Dataset. Neurol Clin Pract. 2023 Dec; 13(6):e200200. Mendizabal A, Singh AP, Perlman S, Brown A, Bordelon Y. PMID: 37795504; PMCID: PMC10547468.
      View in: PubMed   Mentions: 1  
    23. Propensity matched comparison of omaveloxolone treatment to Friedreich ataxia natural history data. Ann Clin Transl Neurol. 2024 01; 11(1):4-16. Lynch DR, Goldsberry A, Rummey C, Farmer J, Boesch S, Delatycki MB, Giunti P, Hoyle JC, Mariotti C, Mathews KD, Nachbauer W, Perlman S, Subramony SH, Wilmot G, Zesiewicz T, Weissfeld L, Meyer C. PMID: 37691319; PMCID: PMC10791025.
      View in: PubMed   Mentions: 5     Fields:    Translation:Humans
    24. Development of cancer surveillance guidelines in ataxia telangiectasia: A Delphi-based consensus survey of international experts. Cancer Med. 2023 07; 12(13):14663-14673. Neves R, De Dios Perez B, Panek R, Jagani S, Wilne S, Bhatt JM, Caputi C, Cirillo E, Coman DJ, Dückers G, Gilbert DL, Kay Koenig M, Mansour L, McDermott E, Pauni M, Pignata C, Perlman SL, Porras O, Betina Porto M, Schon K, Soler-Palacin P, Nick Russo S, Takagi M, Tischkowitz M, Wainwright C, Dandapani M, Glazebrook C, Suri M, Whitehouse WP, Dineen RA. PMID: 37264737; PMCID: PMC10358231.
      View in: PubMed   Mentions: 3     Fields:    Translation:Humans
    25. Quantitative Oculomotor Assessment in Hereditary Ataxia: Systematic Review and Consensus by the Ataxia Global Initiative Working Group on Digital-motor Biomarkers. Cerebellum. 2024 Jun; 23(3):896-911. Garces P, Antoniades CA, Sobanska A, Kovacs N, Ying SH, Gupta AS, Perlman S, Szmulewicz DJ, Pane C, Németh AH, Jardim LB, Coarelli G, Dankova M, Traschütz A, Tarnutzer AA. PMID: 37117990; PMCID: PMC11102387.
      View in: PubMed   Mentions: 2     Fields:    Translation:Humans
    26. Baseline Clinical and Blood Biomarkers in Patients With Preataxic and Early-Stage Disease Spinocerebellar Ataxia 1 and 3. Neurology. 2023 04 25; 100(17):e1836-e1848. Tezenas du Montcel S, Petit E, Olubajo T, Faber J, Lallemant-Dudek P, Bushara K, Perlman S, Subramony SH, Morgan D, Jackman B, Pulst SM, Fauret-Amsellem AL, Dufke C, Paulson HL, Öz G, Klockgether T, Durr A, Ashizawa T, READISCA Consortium Collaborators. PMID: 36797067; PMCID: PMC10136009.
      View in: PubMed   Mentions: 8     Fields:    Translation:Humans
    27. Quantitative Oculomotor Assessment in Hereditary Ataxia: Discriminatory Power, Correlation with Severity Measures, and Recommended Parameters for Specific Genotypes. Cerebellum. 2024 Feb; 23(1):121-135. Garces P, Antoniades CA, Sobanska A, Kovacs N, Ying SH, Gupta AS, Perlman S, Szmulewicz DJ, Pane C, Németh AH, Jardim LB, Coarelli G, Dankova M, Traschütz A, Tarnutzer AA. PMID: 36640220; PMCID: PMC10864420.
      View in: PubMed   Mentions: 2     Fields:    Translation:Humans
    28. Double blind trial of a deuterated form of linoleic acid (RT001) in Friedreich ataxia. J Neurol. 2023 Mar; 270(3):1615-1623. Lynch DR, Mathews KD, Perlman S, Zesiewicz T, Subramony S, Omidvar O, Vogel AP, Krtolica A, Litterman N, van der Ploeg L, Heerinckx F, Milner P, Midei M. PMID: 36462055.
      View in: PubMed   Mentions: 2     Fields:    Translation:Humans
    29. Efficacy and Safety of N-Acetyl-l-Leucine in Children and Adults With GM2 Gangliosidoses. Neurology. 2023 03 07; 100(10):e1072-e1083. Martakis K, Claassen J, Gascon-Bayari J, Goldschagg N, Hahn A, Hassan A, Hennig A, Jones S, Kay R, Lau H, Perlman S, Sharma R, Schneider S, Bremova-Ertl T. PMID: 36456200; PMCID: PMC9990862.
      View in: PubMed   Mentions: 6     Fields:    Translation:HumansCTClinical Trials
    30. Efficacy of Omaveloxolone in Friedreich's Ataxia: Delayed-Start Analysis of the MOXIe Extension. Mov Disord. 2023 02; 38(2):313-320. Lynch DR, Chin MP, Boesch S, Delatycki MB, Giunti P, Goldsberry A, Hoyle JC, Mariotti C, Mathews KD, Nachbauer W, O'Grady M, Perlman S, Subramony SH, Wilmot G, Zesiewicz T, Meyer CJ. PMID: 36444905.
      View in: PubMed   Mentions: 19     Fields:    Translation:Humans
    31. Natural History of Friedreich Ataxia: Heterogeneity of Neurologic Progression and Consequences for Clinical Trial Design. Neurology. 2022 Oct 03; 99(14):e1499-e1510. Rummey C, Corben LA, Delatycki M, Wilmot G, Subramony SH, Corti M, Bushara K, Duquette A, Gomez C, Hoyle JC, Roxburgh R, Seeberger L, Yoon G, Mathews K, Zesiewicz T, Perlman S, Lynch DR. PMID: 35817567; PMCID: PMC9576299.
      View in: PubMed   Mentions: 20     Fields:    Translation:Humans
    32. The Unified Multiple System Atrophy Rating Scale: Status, Critique, and Recommendations. Mov Disord. 2022 12; 37(12):2336-2341. Krismer F, Palma JA, Calandra-Buonaura G, Stankovic I, Vignatelli L, Berger AK, Falup-Pecurariu C, Foubert-Samier A, Höglinger G, Kaufmann H, Kellerman L, Kim HJ, Klockgether T, Levin J, Martinez-Martin P, Mestre TA, Pellecchia MT, Perlman S, Qureshi I, Rascol O, Schrag A, Seppi K, Shang H, Stebbins GT, Wenning GK, Singer W, Meissner WG. PMID: 36074648; PMCID: PMC9771866.
      View in: PubMed   Mentions: 13     Fields:    Translation:Humans
    33. A non-synonymous single nucleotide polymorphism in SIRT6 predicts neurological severity in Friedreich ataxia. Front Mol Biosci. 2022; 9:933788. Rodden LN, Rummey C, Dong YN, Lagedrost S, Regner S, Brocht A, Bushara K, Delatycki MB, Gomez CM, Mathews K, Murray S, Perlman S, Ravina B, Subramony SH, Wilmot G, Zesiewicz T, Bolotta A, Domissy A, Jespersen C, Ji B, Soragni E, Gottesfeld JM, Lynch DR. PMID: 36133907; PMCID: PMC9483148.
      View in: PubMed   Mentions: 2  
    34. Review: Defining Positive Emotion Dysregulation: Integrating Temperamental and Clinical Perspectives. J Am Acad Child Adolesc Psychiatry. 2023 Mar; 62(3):297-305. Vogel AC, Brotman MA, Roy AK, Perlman SB. PMID: 36007814; PMCID: PMC11323061.
      View in: PubMed   Mentions: 4     Fields:    Translation:Humans
    35. The S-Factor, a New Measure of Disease Severity in Spinocerebellar Ataxia: Findings and Implications. Cerebellum. 2023 Oct; 22(5):790-809. Selvadurai LP, Perlman SL, Wilmot GR, Subramony SH, Gomez CM, Ashizawa T, Paulson HL, Onyike CU, Rosenthal LS, Sair HI, Kuo SH, Ratai EM, Zesiewicz TA, Bushara KO, Öz G, Dietiker C, Geschwind MD, Nelson AB, Opal P, Yacoubian TA, Nopoulos PC, Shakkottai VG, Figueroa KP, Pulst SM, Morrison PE, Schmahmann JD. PMID: 35962273; PMCID: PMC10363993.
      View in: PubMed   Mentions: 1     Fields:    Translation:Humans
    36. Joint Consideration of Inhibitory Control and Irritability in Young Children: Contributions to Emergent Psychopathology. Res Child Adolesc Psychopathol. 2022 11; 50(11):1415-1427. Nili AN, Krogh-Jespersen S, Perlman SB, Estabrook R, Petitclerc A, Briggs-Gowan MJ, Sherlock PR, Norton ES, Wakschlag LS. PMID: 35838931; PMCID: PMC9753138.
      View in: PubMed   Mentions: 2     Fields:    Translation:Humans
    37. Emerging Subspecialties in Neurology: A Career as a Clinical Trialist in Neurology. Neurology. 2022 05 31; 98(22):940-944. Fu KA, Saver JL, Perlman S. PMID: 35387853.
      View in: PubMed   Mentions: 1     Fields:    Translation:Humans
    38. EmoCodes: a Standardized Coding System for Socio-emotional Content in Complex Video Stimuli. Affect Sci. 2022 Mar; 3(1):168-181. Camacho MC, Williams EM, Balser D, Kamojjala R, Sekar N, Steinberger D, Yarlagadda S, Perlman SB, Barch DM. PMID: 36046099; PMCID: PMC9383008.
      View in: PubMed   Mentions: 2  
    39. Trajectory of emotion dysregulation in positive and negative affect across childhood predicts adolescent emotion dysregulation and overall functioning. Dev Psychopathol. 2021 12; 33(5):1722-1733. Vogel AC, Tillman R, El-Sayed NM, Jackson JJ, Perlman SB, Barch DM, Luby JL. PMID: 36238204; PMCID: PMC9555228.
      View in: PubMed   Mentions: 6  Translation:Humans
    40. Body Mass Index and Height in the Friedreich Ataxia Clinical Outcome Measures Study. Neurol Genet. 2021 Dec; 7(6):e638. Patel M, McCormick A, Tamaroff J, Dunn J, Mitchell JA, Lin KY, Farmer J, Rummey C, Perlman SL, Delatycki MB, Wilmot GR, Mathews KD, Yoon G, Hoyle J, Corti M, Subramony SH, Zesiewicz T, Lynch D, McCormack SE. PMID: 34786480; PMCID: PMC8589265.
      View in: PubMed   Mentions: 5  
    41. Impact of prenatal exposure characterization on early risk detection: Methodologic insights for the HEALthy Brain and Child Development (HBCD) study. Neurotoxicol Teratol. 2021 Nov-Dec; 88:107035. Massey SH, Allen NB, Pool LR, Miller ES, Pouppirt NR, Barch DM, Luby J, Perlman SB, Rogers CE, Smyser CD, Wakschlag LS. PMID: 34606910; PMCID: PMC8578417.
      View in: PubMed   Mentions: 2     Fields:    Translation:HumansPHPublic Health
    42. Getting in synch: Unpacking the role of parent-child synchrony in the development of internalizing and externalizing behaviors. Dev Psychopathol. 2022 Dec; 34(5):1901-1913. Quiñones-Camacho LE, Hoyniak CP, Wakschlag LS, Perlman SB. PMID: 34521492; PMCID: PMC8920952.
      View in: PubMed   Mentions: 7  
    43. Correction to: α-Synuclein in blood exosomes immunoprecipitated using neuronal and oligodendroglial markers distinguishes Parkinson's disease from multiple system atrophy. Acta Neuropathol. 2021 Sep; 142(3):513. Dutta S, Hornung S, Kruayatidee A, Maina KN, Del Rosario I, Paul KC, Wong DY, Duarte Folle A, Markovic D, Palma JA, Serrano GE, Adler CH, Perlman SL, Poon WW, Kang UJ, Alcalay RN, Sklerov M, Gylys KH, Kaufmann H, Fogel BL, Bronstein JM, Ritz B, Bitan G. PMID: 34028589; PMCID: PMC8587231.
      View in: PubMed   Mentions: 1     Fields:    
    44. Gait Variability in Spinocerebellar Ataxia Assessed Using Wearable Inertial Sensors. Mov Disord. 2021 12; 36(12):2922-2931. Shah VV, Rodriguez-Labrada R, Horak FB, McNames J, Casey H, Hansson Floyd K, El-Gohary M, Schmahmann JD, Rosenthal LS, Perlman S, Velázquez-Pérez L, Gomez CM. PMID: 34424581.
      View in: PubMed   Mentions: 19     Fields:    Translation:Humans
    45. α-Synuclein in blood exosomes immunoprecipitated using neuronal and oligodendroglial markers distinguishes Parkinson's disease from multiple system atrophy. Acta Neuropathol. 2021 09; 142(3):495-511. Dutta S, Hornung S, Kruayatidee A, Maina KN, Del Rosario I, Paul KC, Wong DY, Duarte Folle A, Markovic D, Palma JA, Serrano GE, Adler CH, Perlman SL, Poon WW, Kang UJ, Alcalay RN, Sklerov M, Gylys KH, Kaufmann H, Fogel BL, Bronstein JM, Ritz B, Bitan G. PMID: 33991233; PMCID: PMC8357708.
      View in: PubMed   Mentions: 65     Fields:    Translation:HumansCells
    46. Scoliosis in Friedreich's ataxia: longitudinal characterization in a large heterogeneous cohort. Ann Clin Transl Neurol. 2021 06; 8(6):1239-1250. Rummey C, Flynn JM, Corben LA, Delatycki MB, Wilmot G, Subramony SH, Bushara K, Duquette A, Gomez CM, Hoyle JC, Roxburgh R, Seeberger L, Yoon G, Mathews KD, Zesiewicz T, Perlman S, Lynch DR. PMID: 33949801; PMCID: PMC8164850.
      View in: PubMed   Mentions: 5     Fields:    Translation:Humans
    47. Dysfunction in interpersonal neural synchronization as a mechanism for social impairment in autism spectrum disorder. Autism Res. 2021 08; 14(8):1585-1596. Quiñones-Camacho LE, Fishburn FA, Belardi K, Williams DL, Huppert TJ, Perlman SB. PMID: 33847461; PMCID: PMC11413982.
      View in: PubMed   Mentions: 10     Fields:    Translation:Humans
    48. Adversity is Linked with Decreased Parent-Child Behavioral and Neural Synchrony. Dev Cogn Neurosci. 2021 04; 48:100937. Hoyniak CP, Quiñones-Camacho LE, Camacho MC, Chin JH, Williams EM, Wakschlag LS, Perlman SB. PMID: 33639519; PMCID: PMC7910510.
      View in: PubMed   Mentions: 11     Fields:    Translation:Humans
    49. Multimodal examination of emotion processing systems associated with negative affectivity across early childhood. Dev Cogn Neurosci. 2021 04; 48:100917. Camacho MC, Williams EM, Ding K, Perlman SB. PMID: 33493849; PMCID: PMC7823207.
      View in: PubMed   Mentions: 1     Fields:    Translation:Humans
    50. Safety and Tolerability of SRX246, a Vasopressin 1a Antagonist, in Irritable Huntington's Disease Patients-A Randomized Phase 2 Clinical Trial. J Clin Med. 2020 Nov 16; 9(11). Brownstein MJ, Simon NG, Long JD, Yankey J, Maibach HT, Cudkowicz M, Coffey C, Conwit RA, Lungu C, Anderson KE, Hersch SM, Ecklund DJ, Damiano EM, Itzkowitz DE, Lu S, Chase MK, Shefner JM, McGarry A, Thornell B, Gladden C, Costigan M, O'Suilleabhain P, Marshall FJ, Chesire AM, Deritis P, Adams JL, Hedera P, Lowen K, Rosas HD, Hiller AL, Quinn J, Keith K, Duker AP, Gruenwald C, Molloy A, Jacob C, Factor S, Sperin E, Bega D, Brown ZR, Seeberger LC, Sung VW, Benge M, Kostyk SK, Daley AM, Perlman S, Suski V, Conlon P, Barrett MJ, Lowenhaupt S, Quigg M, Perlmutter JS, Wright BA, Most E, Schwartz GJ, Lamb J, Chuang RS, Singer C, Marder K, Moran JA, Singleton JR, Zorn M, Wall PV, Dubinsky RM, Gray C, Drazinic C. PMID: 33207828; PMCID: PMC7696926.
      View in: PubMed   Mentions: 9  
    51. Safety and Efficacy of Omaveloxolone in Friedreich Ataxia (MOXIe Study). Ann Neurol. 2021 02; 89(2):212-225. Lynch DR, Chin MP, Delatycki MB, Subramony SH, Corti M, Hoyle JC, Boesch S, Nachbauer W, Mariotti C, Mathews KD, Giunti P, Wilmot G, Zesiewicz T, Perlman S, Goldsberry A, O'Grady M, Meyer CJ. PMID: 33068037; PMCID: PMC7894504.
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    52. Update on the Treatment of Ataxia: Medication and Emerging Therapies. Neurotherapeutics. 2020 10; 17(4):1660-1664. Perlman SL. PMID: 33021724; PMCID: PMC7851298.
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    53. Prevalence of RFC1-mediated spinocerebellar ataxia in a North American ataxia cohort. Neurol Genet. 2020 Jun; 6(3):e440. Aboud Syriani D, Wong D, Andani S, De Gusmao CM, Mao Y, Sanyoura M, Glotzer G, Lockhart PJ, Hassin-Baer S, Khurana V, Gomez CM, Perlman S, Das S, Fogel BL. PMID: 32582864; PMCID: PMC7274910.
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    54. Corrigendum to 'The Early Childhood Irritability-Related Impairment Interview (E-CRI): A Novel Method for Assessing Young Children's Developmentally Impairing Irritability' [Behavior Therapy 51(2) (2020) 294-309]. Behav Ther. 2020 07; 51(4):670-673. Wakschlag LS, Krogh-Jespersen S, Estabrook R, Hlutkowsky CO, Anderson EL, Burns J, Briggs-Gowan MJ, Petitclerc A, Perlman SB. PMID: 32586438.
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    55. Dysphagia in spinocerebellar ataxias type 1, 2, 3 and 6. J Neurol Sci. 2020 Aug 15; 415:116878. Yang CY, Lai RY, Amokrane N, Lin CY, Figueroa KP, Pulst SM, Perlman S, Wilmot G, Gomez CM, Schmahmann JD, Paulson H, Shakkottai VG, Rosenthal LS, Ying SH, Zesiewicz T, Bushara K, Geschwind M, Xia G, Subramony SH, Ashizawa T, Troche MS, Kuo SH. PMID: 32454319; PMCID: PMC10150947.
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    56. Does the child brain rest?: An examination and interpretation of resting cognition in developmental cognitive neuroscience. Neuroimage. 2020 05 15; 212:116688. Camacho MC, Quiñones-Camacho LE, Perlman SB. PMID: 32114148; PMCID: PMC7190083.
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    57. The impact of ethnicity on the clinical presentations of spinocerebellar ataxia type 3. Parkinsonism Relat Disord. 2020 03; 72:37-43. Gan SR, Figueroa KP, Xu HL, Perlman S, Wilmot G, Gomez CM, Schmahmann J, Paulson H, Shakkottai VG, Ying SH, Zesiewicz T, Bushara K, Geschwind MD, Xia G, Subramony SH, Rosenthal L, Ashizawa T, Pulst SM, Wang N, Kuo SH. PMID: 32105964; PMCID: PMC7160000.
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    58. Parent-child neural synchrony: a novel approach to elucidating dyadic correlates of preschool irritability. J Child Psychol Psychiatry. 2020 11; 61(11):1213-1223. Quiñones-Camacho LE, Fishburn FA, Camacho MC, Hlutkowsky CO, Huppert TJ, Wakschlag LS, Perlman SB. PMID: 31769511; PMCID: PMC7247953.
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    59. A diagnostic ceiling for exome sequencing in cerebellar ataxia and related neurological disorders. Hum Mutat. 2020 02; 41(2):487-501. Ngo KJ, Rexach JE, Lee H, Petty LE, Perlman S, Valera JM, Deignan JL, Mao Y, Aker M, Posey JE, Jhangiani SN, Coban-Akdemir ZH, Boerwinkle E, Muzny D, Nelson AB, Hassin-Baer S, Poke G, Neas K, Geschwind MD, Grody WW, Gibbs R, Geschwind DH, Lupski JR, Below JE, Nelson SF, Fogel BL. PMID: 31692161; PMCID: PMC7182470.
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    60. Potential biomarker identification for Friedreich's ataxia using overlapping gene expression patterns in patient cells and mouse dorsal root ganglion. PLoS One. 2019; 14(10):e0223209. McMackin MZ, Durbin-Johnson B, Napierala M, Napierala JS, Ruiz L, Napoli E, Perlman S, Giulivi C, Cortopassi GA. PMID: 31665133; PMCID: PMC6821053.
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    61. Psychometric properties of the Friedreich Ataxia Rating Scale. Neurol Genet. 2019 Dec; 5(6):371. Rummey C, Corben LA, Delatycki MB, Subramony SH, Bushara K, Gomez CM, Hoyle JC, Yoon G, Ravina B, Mathews KD, Wilmot G, Zesiewicz T, Perlman S, Farmer JM, Lynch DR. PMID: 32042904; PMCID: PMC6927357.
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    62. Functionally meaningful rating scales in progressive pediatric movement disorders. Dev Med Child Neurol. 2020 02; 62(2):157. Perlman S. PMID: 31583682.
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    63. Neural correlates of early deliberate emotion regulation: Young children's responses to interpersonal scaffolding. Dev Cogn Neurosci. 2019 12; 40:100708. Grabell AS, Huppert TJ, Fishburn FA, Li Y, Hlutkowsky CO, Jones HM, Wakschlag LS, Perlman SB. PMID: 31577981; PMCID: PMC6974895.
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    64. The Early Childhood Irritability-Related Impairment Interview (E-CRI): A Novel Method for Assessing Young Children's Developmentally Impairing Irritability. Behav Ther. 2020 03; 51(2):294-309. Wakschlag LS, Krogh-Jespersen S, Estabrook R, Hlutkowsky CO, Anderson EL, Burns J, Briggs-Gowan MJ, Petitclerc A, Perlman SB. PMID: 32138939; PMCID: PMC10127521.
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    65. Bioinformatics-Based Identification of Expanded Repeats: A Non-reference Intronic Pentamer Expansion in RFC1 Causes CANVAS. Am J Hum Genet. 2019 07 03; 105(1):151-165. Rafehi H, Szmulewicz DJ, Bennett MF, Sobreira NLM, Pope K, Smith KR, Gillies G, Diakumis P, Dolzhenko E, Eberle MA, Barcina MG, Breen DP, Chancellor AM, Cremer PD, Delatycki MB, Fogel BL, Hackett A, Halmagyi GM, Kapetanovic S, Lang A, Mossman S, Mu W, Patrikios P, Perlman SL, Rosemergy I, Storey E, Watson SRD, Wilson MA, Zee DS, Valle D, Amor DJ, Bahlo M, Lockhart PJ. PMID: 31230722; PMCID: PMC6612533.
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    66. Tremor in the Degenerative Cerebellum: Towards the Understanding of Brain Circuitry for Tremor. Cerebellum. 2019 Jun; 18(3):519-526. Lai RY, Tomishon D, Figueroa KP, Pulst SM, Perlman S, Wilmot G, Gomez CM, Schmahmann JD, Paulson H, Shakkottai VG, Ying SH, Zesiewicz T, Bushara K, Geschwind M, Xia G, Subramony SH, Ashizawa T, Kuo SH. PMID: 30830673; PMCID: PMC6520148.
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    67. Randomized, double-blind, placebo-controlled study of interferon-γ 1b in Friedreich Ataxia. Ann Clin Transl Neurol. 2019 03; 6(3):546-553. Lynch DR, Hauser L, McCormick A, Wells M, Dong YN, McCormack S, Schadt K, Perlman S, Subramony SH, Mathews KD, Brocht A, Ball J, Perdok R, Grahn A, Vescio T, Sherman JW, Farmer JM. PMID: 30911578; PMCID: PMC6414489.
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    68. Neural architecture supporting active emotion processing in children: A multivariate approach. Neuroimage. 2019 03; 188:171-180. Camacho MC, Karim HT, Perlman SB. PMID: 30537564; PMCID: PMC6401267.
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    69. Safety, pharmacodynamics, and potential benefit of omaveloxolone in Friedreich ataxia. Ann Clin Transl Neurol. 2019 01; 6(1):15-26. Lynch DR, Farmer J, Hauser L, Blair IA, Wang QQ, Mesaros C, Snyder N, Boesch S, Chin M, Delatycki MB, Giunti P, Goldsberry A, Hoyle C, McBride MG, Nachbauer W, O'Grady M, Perlman S, Subramony SH, Wilmot GR, Zesiewicz T, Meyer C. PMID: 30656180; PMCID: PMC6331199.
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    70. Clinical, cortical thickness and neural activity predictors of future affective lability in youth at risk for bipolar disorder: initial discovery and independent sample replication. Mol Psychiatry. 2019 12; 24(12):1856-1867. Bertocci MA, Hanford L, Manelis A, Iyengar S, Youngstrom EA, Gill MK, Monk K, Versace A, Bonar L, Bebko G, Ladouceur CD, Perlman SB, Diler R, Horwitz SM, Arnold LE, Hafeman D, Travis MJ, Kowatch R, Holland SK, Fristad MA, Findling RL, Birmaher B, Phillips ML. PMID: 31628415; PMCID: PMC6814510.
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    71. Linking the Child Behavior Checklist (CBCL) with the Multidimensional Assessment Profile of Disruptive Behavior (MAP-DB): Advancing a dimensional spectrum approach to disruptive behavior. J Child Fam Stud. 2019 Feb; 28(2):343-353. Kaat AJ, Blackwell CK, Estabrook R, Burns JL, Petitclerc A, Briggs-Gowan MJ, Gershon RC, Cella D, Perlman SB, Wakschlag LS. PMID: 31452592; PMCID: PMC6709983.
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    72. Peripheral blood gene expression reveals an inflammatory transcriptomic signature in Friedreich's ataxia patients. Hum Mol Genet. 2018 09 01; 27(17):2965-2977. Nachun D, Gao F, Isaacs C, Strawser C, Yang Z, Dokuru D, Van Berlo V, Sears R, Farmer J, Perlman S, Lynch DR, Coppola G. PMID: 29790959; PMCID: PMC6097013.
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    73. Double-blind, randomized and controlled trial of EPI-743 in Friedreich's ataxia. Neurodegener Dis Manag. 2018 08; 8(4):233-242. Zesiewicz T, Salemi JL, Perlman S, Sullivan KL, Shaw JD, Huang Y, Isaacs C, Gooch C, Lynch DR, Klein MB. PMID: 30051753.
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    74. Longitudinal analysis of contrast acuity in Friedreich ataxia. Neurol Genet. 2018 Aug; 4(4):e250. Hamedani AG, Hauser LA, Perlman S, Mathews K, Wilmot GR, Zesiewicz T, Subramony SH, Ashizawa T, Delatycki MB, Brocht A, Lynch DR. PMID: 30065952; PMCID: PMC6066362.
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    75. Expanding the global prevalence of spinocerebellar ataxia type 42. Neurol Genet. 2018 Jun; 4(3):e232. Ngo K, Aker M, Petty LE, Chen J, Cavalcanti F, Nelson AB, Hassin-Baer S, Geschwind MD, Perlman S, Italiano D, Laganà A, Cavallaro S, Coppola G, Below JE, Fogel BL. PMID: 29629410; PMCID: PMC5886831.
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    76. Impact of Mobility Device Use on Quality of Life in Children With Friedreich Ataxia. J Child Neurol. 2018 05; 33(6):397-404. Ejaz R, Chen S, Isaacs CJ, Carnevale A, Wilson J, George K, Delatycki MB, Perlman SL, Mathews KD, Wilmot GR, Hoyle JC, Subramony SH, Zesiewicz T, Farmer JM, Lynch DR, Yoon G. PMID: 29607705.
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    77. Relationships Among Apathy, Health-Related Quality of Life, and Function in Huntington's Disease. J Neuropsychiatry Clin Neurosci. 2018; 30(3):194-201. Fritz NE, Boileau NR, Stout JC, Ready R, Perlmutter JS, Paulsen JS, Quaid K, Barton S, McCormack MK, Perlman SL, Carlozzi NE, Huntington Disease Quality of Life Site Investigators and Coordinators, University of Michigan, Univ. PMID: 29558861; PMCID: PMC6081241.
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    78. Decreased functional connectivity in the fronto-parietal network in children with mood disorders compared to children with dyslexia during rest: An fMRI study. Neuroimage Clin. 2018; 18:582-590. Horowitz-Kraus T, Woodburn M, Rajagopal A, Versace AL, Kowatch RA, Bertocci MA, Bebko G, Almeida JRC, Perlman SB, Travis MJ, Gill MK, Bonar L, Schirda C, Diwadkar VA, Sunshine JL, Birmaher B, Axelson D, Gerry Taylor H, Horwitz SM, Frazier T, Eugene Arnold L, Fristad MA, Youngstrom EA, Findling RL, Phillips ML, Holland SK. PMID: 29845006; PMCID: PMC5964829.
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    79. Comprehensive systematic review summary: Treatment of cerebellar motor dysfunction and ataxia: Report of the Guideline Development, Dissemination, and Implementation Subcommittee of the American Academy of Neurology. Neurology. 2018 03 06; 90(10):464-471. Zesiewicz TA, Wilmot G, Kuo SH, Perlman S, Greenstein PE, Ying SH, Ashizawa T, Subramony SH, Schmahmann JD, Figueroa KP, Mizusawa H, Schöls L, Shaw JD, Dubinsky RM, Armstrong MJ, Gronseth GS, Sullivan KL. PMID: 29440566; PMCID: PMC5863491.
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    80. Drug treatment. Handb Clin Neurol. 2018; 155:371-377. Perlman S, Boltshauser E. PMID: 29891072.
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    81. Von Hippel-Lindau disease and Sturge-Weber syndrome. Handb Clin Neurol. 2018; 148:823-826. Perlman S. PMID: 29478617.
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    82. Evidence of Non-Linear Associations between Frustration-Related Prefrontal Cortex Activation and the Normal:Abnormal Spectrum of Irritability in Young Children. J Abnorm Child Psychol. 2018 01; 46(1):137-147. Grabell AS, Li Y, Barker JW, Wakschlag LS, Huppert TJ, Perlman SB. PMID: 28315125; PMCID: PMC5603348.
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    83. Using facial muscular movements to understand young children's emotion regulation and concurrent neural activation. Dev Sci. 2018 09; 21(5):e12628. Grabell AS, Huppert TJ, Fishburn FA, Li Y, Jones HM, Wilett AE, Bemis LM, Perlman SB. PMID: 29226482; PMCID: PMC5995650.
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    84. C9orf72 repeat expansions as genetic modifiers for depression in spinocerebellar ataxias. Mov Disord. 2018 03; 33(3):497-498. Figueroa KP, Gan SR, Perlman S, Wilmot G, Gomez CM, Schmahmann J, Paulson H, Shakkottai VG, Ying SH, Zesiewicz T, Bushara K, Geschwind M, Xia G, Subramony SH, Ashizawa T, Pulst SM, Kuo SH. PMID: 29193335; PMCID: PMC6200142.
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    85. The Neurodevelopmental Basis of Early Childhood Disruptive Behavior: Irritable and Callous Phenotypes as Exemplars. Am J Psychiatry. 2018 02 01; 175(2):114-130. Wakschlag LS, Perlman SB, Blair RJ, Leibenluft E, Briggs-Gowan MJ, Pine DS. PMID: 29145753; PMCID: PMC6075952.
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    86. Dystonia and ataxia progression in spinocerebellar ataxias. Parkinsonism Relat Disord. 2017 Dec; 45:75-80. Kuo PH, Gan SR, Wang J, Lo RY, Figueroa KP, Tomishon D, Pulst SM, Perlman S, Wilmot G, Gomez CM, Schmahmann JD, Paulson H, Shakkottai VG, Ying SH, Zesiewicz T, Bushara K, Geschwind MD, Xia G, Subramony SH, Ashizawa T, Kuo SH. PMID: 29089256; PMCID: PMC6089251.
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    87. Postural Tremor and Ataxia Progression in Spinocerebellar Ataxias. Tremor Other Hyperkinet Mov (N Y). 2017; 7:492. Gan SR, Wang J, Figueroa KP, Pulst SM, Tomishon D, Lee D, Perlman S, Wilmot G, Gomez CM, Schmahmann J, Paulson H, Shakkottai VG, Ying SH, Zesiewicz T, Bushara K, Geschwind MD, Xia G, Subramony SH, Ashizawa T, Kuo SH. PMID: 29057148; PMCID: PMC5647398.
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    88. Impact of diabetes in the Friedreich ataxia clinical outcome measures study. Ann Clin Transl Neurol. 2017 09; 4(9):622-631. McCormick A, Farmer J, Perlman S, Delatycki M, Wilmot G, Matthews K, Yoon G, Hoyle C, Subramony SH, Zesiewicz T, Lynch DR, McCormack SE. PMID: 28904984; PMCID: PMC5590524.
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    89. Neurodevelopmental maturation as a function of irritable temperament: Insights From a Naturalistic Emotional Video Viewing Paradigm. Hum Brain Mapp. 2017 10; 38(10):5307-5321. Karim HT, Perlman SB. PMID: 28737296; PMCID: PMC5752122.
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    90. Prevalence of spinocerebellar ataxia 36 in a US population. Neurol Genet. 2017 Aug; 3(4):e174. Valera JM, Diaz T, Petty LE, Quintáns B, Yáñez Z, Boerwinkle E, Muzny D, Akhmedov D, Berdeaux R, Sobrido MJ, Gibbs R, Lupski JR, Geschwind DH, Perlman S, Below JE, Fogel BL. PMID: 28761930; PMCID: PMC5515602.
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    91. Frataxin deficiency impairs mitochondrial biogenesis in cells, mice and humans. Hum Mol Genet. 2017 07 15; 26(14):2627-2633. Jasoliya MJ, McMackin MZ, Henderson CK, Perlman SL, Cortopassi GA. PMID: 28444186; PMCID: PMC6251520.
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    92. Using machine learning and surface reconstruction to accurately differentiate different trajectories of mood and energy dysregulation in youth. PLoS One. 2017; 12(7):e0180221. Versace A, Sharma V, Bertocci MA, Bebko G, Iyengar S, Dwojak A, Bonar L, Perlman SB, Schirda C, Travis M, Gill MK, Diwadkar VA, Sunshine JL, Holland SK, Kowatch RA, Birmaher B, Axelson D, Frazier TW, Arnold LE, Fristad MA, Youngstrom EA, Horwitz SM, Findling RL, Phillips ML. PMID: 28683115; PMCID: PMC5500381.
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    93. Reading related white matter structures in adolescents are influenced more by dysregulation of emotion than behavior. Neuroimage Clin. 2017; 15:732-740. Horowitz-Kraus T, Holland SK, Versace AL, Bertocci MA, Bebko G, Almeida JRC, Perlman SB, Travis MJ, Gill MK, Bonar L, Schirda C, Sunshine JL, Birmaher B, Taylor G, Diwadkar VA, Horwitz SM, Axelson D, Frazier T, Arnold EL, Fristad MA, Youngstrom EA, Findling RL, Phillips ML. PMID: 28702350; PMCID: PMC5491458.
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    94. The Initial Symptom and Motor Progression in Spinocerebellar Ataxias. Cerebellum. 2017 06; 16(3):615-622. Luo L, Wang J, Lo RY, Figueroa KP, Pulst SM, Kuo PH, Perlman S, Wilmot G, Gomez CM, Schmahmann J, Paulson H, Shakkottai VG, Ying SH, Zesiewicz T, Bushara K, Geschwind M, Xia G, Subramony SH, Ashizawa T, Kuo SH. PMID: 27848087; PMCID: PMC5429172.
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    95. Cardiac transplantation in Friedreich Ataxia: Extended follow-up. J Neurol Sci. 2017 Apr 15; 375:471-473. McCormick A, Shinnick J, Schadt K, Rodriguez R, Addonizio L, Hirano M, Perlman S, Lin KY, Lynch DR. PMID: 28109580.
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    96. The neural substrates of cognitive flexibility are related to individual differences in preschool irritability: A fNIRS investigation. Dev Cogn Neurosci. 2017 06; 25:138-144. Li Y, Grabell AS, Wakschlag LS, Huppert TJ, Perlman SB. PMID: 27527736; PMCID: PMC5292091.
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    97. Progression of Friedreich ataxia: quantitative characterization over 5 years. Ann Clin Transl Neurol. 2016 09; 3(9):684-94. Patel M, Isaacs CJ, Seyer L, Brigatti K, Gelbard S, Strawser C, Foerster D, Shinnick J, Schadt K, Yiu EM, Delatycki MB, Perlman S, Wilmot GR, Zesiewicz T, Mathews K, Gomez CM, Yoon G, Subramony SH, Brocht A, Farmer J, Lynch DR. PMID: 27648458; PMCID: PMC5018581.
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    98. Comorbid Medical Conditions in Friedreich Ataxia: Association With Inflammatory Bowel Disease and Growth Hormone Deficiency. J Child Neurol. 2016 08; 31(9):1161-5. Shinnick JE, Schadt K, Strawser C, Wilcox N, Perlman SL, Wilmot GR, Gomez CM, Mathews KD, Yoon G, Zesiewicz T, Hoyle C, Subramony SH, Yiu EM, Delatycki MB, Brocht AF, Farmer JM, Lynch DR. PMID: 27071470.
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    99. Compound heterozygous FXN mutations and clinical outcome in friedreich ataxia. Ann Neurol. 2016 Mar; 79(3):485-95. Galea CA, Huq A, Lockhart PJ, Tai G, Corben LA, Yiu EM, Gurrin LC, Lynch DR, Gelbard S, Durr A, Pousset F, Parkinson M, Labrum R, Giunti P, Perlman SL, Delatycki MB, Evans-Galea MV. PMID: 26704351.
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    100. Can Emotional and Behavioral Dysregulation in Youth Be Decoded from Functional Neuroimaging? PLoS One. 2016; 11(1):e0117603. Portugal LC, Rosa MJ, Rao A, Bebko G, Bertocci MA, Hinze AK, Bonar L, Almeida JR, Perlman SB, Versace A, Schirda C, Travis M, Gill MK, Demeter C, Diwadkar VA, Ciuffetelli G, Rodriguez E, Forbes EE, Sunshine JL, Holland SK, Kowatch RA, Birmaher B, Axelson D, Horwitz SM, Arnold EL, Fristad MA, Youngstrom EA, Findling RL, Pereira M, Oliveira L, Phillips ML, Mourao-Miranda J. PMID: 26731403; PMCID: PMC4701457.
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    101. Clinical-Genetic Associations in the Prospective Huntington at Risk Observational Study (PHAROS): Implications for Clinical Trials. JAMA Neurol. 2016 Jan; 73(1):102-10. Huntington Study Group PHAROS Investigators, Biglan KM, Shoulson I, Kieburtz K, Oakes D, Kayson E, Shinaman MA, Zhao H, Romer M, Young A, Hersch S, Penney J, Marder K, Paulsen J, Quaid K, Siemers E, Tanner C, Mallonee W, Suter G, Dubinsky R, Gray C, Nance M, Bundlie S, Radtke D, Kostyk S, Baic C, Caress J, Walker F, Hunt V, O'Neill C, Chouinard S, Factor S, Greenamyre T, Wood-Siverio C, Corey-Bloom J, Song D, Peavy G, Moskowitz C, Wesson M, Samii A, Bird T, Lipe H, Blindauer K, Marshall F, Zimmerman C, Goldstein J, Rosas D, Novak P, Caviness J, Adler C, Duffy A, Wheelock V, Tempkin T, Richman D, Seeberger L, Albin R, Chou KL, Racette B, Perlmutter JS, Perlman S, Bordelon Y, Martin W, Wieler M, Leavitt B, Raymond L, Decolongon J, Clarke L, Jankovic J, Hunter C, Hauser RA, Sanchez-Ramos J, Furtado S, Suchowersky O, Klimek ML, Guttman M, Sethna R, Feigin A, Cox M, Shannon B, Percy A, Dure L, Harrison M, Johnson W, Higgins D, Molho E, Nickerson C, Evans S, Hobson D, Singer C, Galvez-Jimenez N, Shannon K, Comella C, Ross C, Saint-Hilaire MH, Testa C, Rosenblatt A, Hogarth P, Weiner W, Como P, Kumar R, Cotto C, Stout J, Brocht A, Watts A, Eberly S, Weaver C, Foroud T, Gusella J, MacDonald M, Myers R, Fahn S, Shults C. PMID: 26569098.
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    102. Emerging therapies in Friedreich's ataxia. Neurodegener Dis Manag. 2016; 6(1):49-65. Aranca TV, Jones TM, Shaw JD, Staffetti JS, Ashizawa T, Kuo SH, Fogel BL, Wilmot GR, Perlman SL, Onyike CU, Ying SH, Zesiewicz TA. PMID: 26782317; PMCID: PMC4768799.
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    103. Depression and clinical progression in spinocerebellar ataxias. Parkinsonism Relat Disord. 2016 Jan; 22:87-92. Lo RY, Figueroa KP, Pulst SM, Perlman S, Wilmot G, Gomez C, Schmahmann J, Paulson H, Shakkottai VG, Ying S, Zesiewicz T, Bushara K, Geschwind M, Xia G, Yu JT, Lee LE, Ashizawa T, Subramony SH, Kuo SH. PMID: 26644294; PMCID: PMC4695274.
      View in: PubMed   Mentions: 58     Fields:    Translation:Humans
    104. Frataxin levels in peripheral tissue in Friedreich ataxia. Ann Clin Transl Neurol. 2015 Aug; 2(8):831-42. Lazaropoulos M, Dong Y, Clark E, Greeley NR, Seyer LA, Brigatti KW, Christie C, Perlman SL, Wilmot GR, Gomez CM, Mathews KD, Yoon G, Zesiewicz T, Hoyle C, Subramony SH, Brocht AF, Farmer JM, Wilson RB, Deutsch EC, Lynch DR. PMID: 26339677; PMCID: PMC4554444.
      View in: PubMed   Mentions: 32     Fields:    
    105. Clinical Implications of a Dimensional Approach: The Normal:Abnormal Spectrum of Early Irritability. J Am Acad Child Adolesc Psychiatry. 2015 Aug; 54(8):626-34. Wakschlag LS, Estabrook R, Petitclerc A, Henry D, Burns JL, Perlman SB, Voss JL, Pine DS, Leibenluft E, Briggs-Gowan ML. PMID: 26210331; PMCID: PMC4515952.
      View in: PubMed   Mentions: 105     Fields:    Translation:Humans
    106. Romiplostim mitigates dose-limiting thrombocytopenia of erucic acid for adrenomyeloneuropathy. Br J Haematol. 2015 Dec; 171(5):879-81. Shin DS, Perlman S, Rosove MH. PMID: 25854532.
      View in: PubMed   Mentions: 1     Fields:    Translation:Humans
    107. Clinical evaluation of eye movements in spinocerebellar ataxias: a prospective multicenter study. J Neuroophthalmol. 2015 Mar; 35(1):16-21. Moscovich M, Okun MS, Favilla C, Figueroa KP, Pulst SM, Perlman S, Wilmot G, Gomez C, Schmahmann J, Paulson H, Shakkottai V, Ying S, Zesiewicz T, Kuo SH, Mazzoni P, Bushara K, Xia G, Ashizawa T, Subramony SH. PMID: 25259863; PMCID: PMC4675453.
      View in: PubMed   Mentions: 28     Fields:    Translation:Humans
    108. Vascular risk factors and clinical progression in spinocerebellar ataxias. Tremor Other Hyperkinet Mov (N Y). 2015; 5:287. Lo RY, Figueroa KP, Pulst SM, Lin CY, Perlman S, Wilmot G, Gomez CM, Schmahmann J, Paulson H, Shakkottai VG, Ying SH, Zesiewicz T, Bushara K, Geschwind M, Xia G, Subramony SH, Ashizawa T, Kuo SH. PMID: 25713748; PMCID: PMC4314609.
      View in: PubMed   Mentions: 6     Fields:    
    109. Friedreich's ataxia: the European consortium. Lancet Neurol. 2015 Feb; 14(2):130-1. Lynch DR, Perlman SL. PMID: 25566997.
      View in: PubMed   Mentions: 1     Fields:    Translation:Humans
    110. Coenzyme Q10 and spinocerebellar ataxias. Mov Disord. 2015 Feb; 30(2):214-20. Lo RY, Figueroa KP, Pulst SM, Lin CY, Perlman S, Wilmot G, Gomez C, Schmahmann J, Paulson H, Shakkottai VG, Ying S, Zesiewicz T, Bushara K, Geschwind M, Xia G, Subramony SH, Ashizawa T, Kuo SH. PMID: 25449974; PMCID: PMC4674072.
      View in: PubMed   Mentions: 21     Fields:    Translation:Humans
    111. Decreased amygdala-insula resting state connectivity in behaviorally and emotionally dysregulated youth. Psychiatry Res. 2015 Jan 30; 231(1):77-86. Bebko G, Bertocci M, Chase H, Dwojak A, Bonar L, Almeida J, Perlman SB, Versace A, Schirda C, Travis M, Gill MK, Demeter C, Diwadkar V, Sunshine J, Holland S, Kowatch R, Birmaher B, Axelson D, Horwitz S, Frazier T, Arnold LE, Fristad M, Youngstrom E, Findling R, Phillips ML. PMID: 25433424; PMCID: PMC4272653.
      View in: PubMed   Mentions: 32     Fields:    Translation:Humans
    112. Exome sequencing in the clinical diagnosis of sporadic or familial cerebellar ataxia. JAMA Neurol. 2014 Oct; 71(10):1237-46. Fogel BL, Lee H, Deignan JL, Strom SP, Kantarci S, Wang X, Quintero-Rivera F, Vilain E, Grody WW, Perlman S, Geschwind DH, Nelson SF. PMID: 25133958; PMCID: PMC4324730.
      View in: PubMed   Mentions: 119     Fields:    Translation:Humans
    113. Dyclonine rescues frataxin deficiency in animal models and buccal cells of patients with Friedreich's ataxia. Hum Mol Genet. 2014 Dec 20; 23(25):6848-62. Sahdeo S, Scott BD, McMackin MZ, Jasoliya M, Brown B, Wulff H, Perlman SL, Pook MA, Cortopassi GA. PMID: 25113747; PMCID: PMC4245046.
      View in: PubMed   Mentions: 51     Fields:    Translation:HumansAnimalsCells
    114. Abnormal deactivation of the inferior frontal gyrus during implicit emotion processing in youth with bipolar disorder: attenuated by medication. J Psychiatr Res. 2014 Nov; 58:129-36. Hafeman DM, Bebko G, Bertocci MA, Fournier JC, Bonar L, Perlman SB, Travis M, Gill MK, Diwadkar VA, Sunshine JL, Holland SK, Kowatch RA, Birmaher B, Axelson D, Horwitz SM, Arnold LE, Fristad MA, Frazier TW, Youngstrom EA, Findling RL, Drevets W, Phillips ML. PMID: 25151338; PMCID: PMC4381734.
      View in: PubMed   Mentions: 14     Fields:    Translation:Humans
    115. Mutation of senataxin alters disease-specific transcriptional networks in patients with ataxia with oculomotor apraxia type 2. Hum Mol Genet. 2014 Sep 15; 23(18):4758-69. Fogel BL, Cho E, Wahnich A, Gao F, Becherel OJ, Wang X, Fike F, Chen L, Criscuolo C, De Michele G, Filla A, Collins A, Hahn AF, Gatti RA, Konopka G, Perlman S, Lavin MF, Geschwind DH, Coppola G. PMID: 24760770; PMCID: PMC4140459.
      View in: PubMed   Mentions: 29     Fields:    Translation:HumansAnimalsCells
    116. Efficacy and safety of rifampicin for multiple system atrophy: a randomised, double-blind, placebo-controlled trial. Lancet Neurol. 2014 Mar; 13(3):268-75. Low PA, Robertson D, Gilman S, Kaufmann H, Singer W, Biaggioni I, Freeman R, Perlman S, Hauser RA, Cheshire W, Lessig S, Vernino S, Mandrekar J, Dupont WD, Chelimsky T, Galpern WR. PMID: 24507091; PMCID: PMC4030757.
      View in: PubMed   Mentions: 43     Fields:    Translation:Humans
    117. Parsing dimensional vs diagnostic category-related patterns of reward circuitry function in behaviorally and emotionally dysregulated youth in the Longitudinal Assessment of Manic Symptoms study. JAMA Psychiatry. 2014 Jan; 71(1):71-80. Bebko G, Bertocci MA, Fournier JC, Hinze AK, Bonar L, Almeida JR, Perlman SB, Versace A, Schirda C, Travis M, Gill MK, Demeter C, Diwadkar VA, Ciuffetelli G, Rodriguez E, Olino T, Forbes E, Sunshine JL, Holland SK, Kowatch RA, Birmaher B, Axelson D, Horwitz SM, Arnold LE, Fristad MA, Youngstrom EA, Findling RL, Phillips ML. PMID: 24285346; PMCID: PMC4238412.
      View in: PubMed   Mentions: 30     Fields:    Translation:Humans
    118. Comprehensive phenotype of the p.Arg420his allelic form of spinocerebellar ataxia type 13. Cerebellum. 2013 Dec; 12(6):932-6. Subramony SH, Advincula J, Perlman S, Rosales RL, Lee LV, Ashizawa T, Waters MF. PMID: 23912307; PMCID: PMC3824261.
      View in: PubMed   Mentions: 13     Fields:    Translation:Humans
    119. Clinical characteristics of patients with spinocerebellar ataxias 1, 2, 3 and 6 in the US; a prospective observational study. Orphanet J Rare Dis. 2013 Nov 13; 8:177. Ashizawa T, Figueroa KP, Perlman SL, Gomez CM, Wilmot GR, Schmahmann JD, Ying SH, Zesiewicz TA, Paulson HL, Shakkottai VG, Bushara KO, Kuo SH, Geschwind MD, Xia G, Mazzoni P, Krischer JP, Cuthbertson D, Holbert AR, Ferguson JH, Pulst SM, Subramony SH. PMID: 24225362; PMCID: PMC3843578.
      View in: PubMed   Mentions: 68     Fields:    Translation:Humans
    120. Analysis of the visual system in Friedreich ataxia. J Neurol. 2013 Sep; 260(9):2362-9. Seyer LA, Galetta K, Wilson J, Sakai R, Perlman S, Mathews K, Wilmot GR, Gomez CM, Ravina B, Zesiewicz T, Bushara KO, Subramony SH, Ashizawa T, Delatycki MB, Brocht A, Balcer LJ, Lynch DR. PMID: 23775342.
      View in: PubMed   Mentions: 29     Fields:    Translation:Humans
    121. Mutations in PDYN are not responsible for multiple system atrophy. J Neurol. 2013 Mar; 260(3):927-8. Fogel BL, Baker C, Curnow A, Perlman SL, Geschwind DH, Coppola G. PMID: 23355175; PMCID: PMC3594076.
      View in: PubMed   Mentions: 3     Fields:    Translation:Humans
    122. SMRT compounds abrogate cellular phenotypes of ataxia telangiectasia in neural derivatives of patient-specific hiPSCs. Nat Commun. 2013; 4:1824. Lee P, Martin NT, Nakamura K, Azghadi S, Amiri M, Ben-David U, Perlman S, Gatti RA, Hu H, Lowry WE. PMID: 23652012.
      View in: PubMed   Mentions: 20     Fields:    Translation:HumansCells
    123. Common data elements for clinical research in Friedreich's ataxia. Mov Disord. 2013 Feb; 28(2):190-5. Lynch DR, Pandolfo M, Schulz JB, Perlman S, Delatycki MB, Payne RM, Shaddy R, Fischbeck KH, Farmer J, Kantor P, Raman SV, Hunegs L, Odenkirchen J, Miller K, Kaufmann P. PMID: 23239403; PMCID: PMC3581713.
      View in: PubMed   Mentions: 11     Fields:    Translation:Humans
    124. Principal component analysis of cerebellar shape on MRI separates SCA types 2 and 6 into two archetypal modes of degeneration. Cerebellum. 2012 Dec; 11(4):887-95. Jung BC, Choi SI, Du AX, Cuzzocreo JL, Geng ZZ, Ying HS, Perlman SL, Toga AW, Prince JL, Ying SH. PMID: 22258915; PMCID: PMC3932524.
      View in: PubMed   Mentions: 7     Fields:    Translation:Humans
    125. C9ORF72 expansion is not a significant cause of sporadic spinocerebellar ataxia. Mov Disord. 2012 Dec; 27(14):1832-3. Fogel BL, Pribadi M, Pi S, Perlman SL, Geschwind DH, Coppola G. PMID: 23080112; PMCID: PMC3536912.
      View in: PubMed   Mentions: 9     Fields:    Translation:Humans
    126. Brain uptake of Tc99m-HMPAO correlates with clinical response to the novel redox modulating agent EPI-743 in patients with mitochondrial disease. Mol Genet Metab. 2012 Dec; 107(4):690-9. Blankenberg FG, Kinsman SL, Cohen BH, Goris ML, Spicer KM, Perlman SL, Krane EJ, Kheifets V, Thoolen M, Miller G, Enns GM. PMID: 23084792.
      View in: PubMed   Mentions: 12     Fields:    Translation:HumansCells
    127. A review of Friedreich ataxia clinical trial results. J Child Neurol. 2012 Sep; 27(9):1217-22. Perlman SL. PMID: 22927692.
      View in: PubMed   Mentions: 8     Fields:    Translation:Humans
    128. Oculomotor and visual axis systems sparing in spinocerebellar ataxia type 13(R420H). Neurology. 2012 Sep 11; 79(11):1181-2. Waters MF, Subramony SH, Advincula J, Perlman S, Ashizawa T. PMID: 22933745; PMCID: PMC3525304.
      View in: PubMed   Mentions: 3     Fields:    Translation:Humans
    129. Childhood ataxia: clinical features, pathogenesis, key unanswered questions, and future directions. J Child Neurol. 2012 Sep; 27(9):1095-120. Ashley CN, Hoang KD, Lynch DR, Perlman SL, Maria BL. PMID: 22859693; PMCID: PMC3695710.
      View in: PubMed   Mentions: 4     Fields:    Translation:Humans
    130. Clinical monitoring in a patient with Friedreich ataxia and osteogenic sarcoma. J Child Neurol. 2012 Sep; 27(9):1159-63. Deutsch EC, Seyer LA, Perlman SL, Yu J, Lynch DR. PMID: 22752483; PMCID: PMC3674811.
      View in: PubMed   Mentions: 3     Fields:    Translation:HumansCells
    131. Friedreich ataxia clinical outcome measures: natural history evaluation in 410 participants. J Child Neurol. 2012 Sep; 27(9):1152-8. Regner SR, Wilcox NS, Friedman LS, Seyer LA, Schadt KA, Brigatti KW, Perlman S, Delatycki M, Wilmot GR, Gomez CM, Bushara KO, Mathews KD, Subramony SH, Ashizawa T, Ravina B, Brocht A, Farmer JM, Lynch DR. PMID: 22752494; PMCID: PMC3674496.
      View in: PubMed   Mentions: 19     Fields:    Translation:HumansCells
    132. Clinical data and characterization of the liver conditional mouse model exclude neoplasia as a non-neurological manifestation associated with Friedreich's ataxia. Dis Model Mech. 2012 Nov; 5(6):860-9. Martelli A, Friedman LS, Reutenauer L, Messaddeq N, Perlman SL, Lynch DR, Fedosov K, Schulz JB, Pandolfo M, Puccio H. PMID: 22736457; PMCID: PMC3484868.
      View in: PubMed   Mentions: 21     Fields:    Translation:HumansAnimalsCells
    133. FXN methylation predicts expression and clinical outcome in Friedreich ataxia. Ann Neurol. 2012 Apr; 71(4):487-97. Evans-Galea MV, Carrodus N, Rowley SM, Corben LA, Tai G, Saffery R, Galati JC, Wong NC, Craig JM, Lynch DR, Regner SR, Brocht AF, Perlman SL, Bushara KO, Gomez CM, Wilmot GR, Li L, Varley E, Delatycki MB, Sarsero JP. PMID: 22522441.
      View in: PubMed   Mentions: 56     Fields:    Translation:HumansCells
    134. An fMRI study of attentional control in the context of emotional distracters in euthymic adults with bipolar disorder. Psychiatry Res. 2012 Mar 31; 201(3):196-205. Mullin BC, Perlman SB, Versace A, de Almeida JR, Labarbara EJ, Klein C, Ladouceur CD, Phillips ML. PMID: 22510433; PMCID: PMC3361638.
      View in: PubMed   Mentions: 19     Fields:    Translation:Humans
    135. MRI shows a region-specific pattern of atrophy in spinocerebellar ataxia type 2. Cerebellum. 2012 Mar; 11(1):272-9. Jung BC, Choi SI, Du AX, Cuzzocreo JL, Ying HS, Landman BA, Perlman SL, Baloh RW, Zee DS, Toga AW, Prince JL, Ying SH. PMID: 21850525; PMCID: PMC3785794.
      View in: PubMed   Mentions: 29     Fields:    Translation:Humans
    136. Mutations in rare ataxia genes are uncommon causes of sporadic cerebellar ataxia. Mov Disord. 2012 Mar; 27(3):442-6. Fogel BL, Lee JY, Lane J, Wahnich A, Chan S, Huang A, Osborn GE, Klein E, Mamah C, Perlman S, Geschwind DH, Coppola G. PMID: 22287014; PMCID: PMC3323119.
      View in: PubMed   Mentions: 15     Fields:    Translation:Humans
    137. Ataxia-telangiectasia. Handb Clin Neurol. 2012; 103:307-32. Perlman SL, Boder Deceased E, Sedgewick RP, Gatti RA. PMID: 21827897.
      View in: PubMed   Mentions: 27     Fields:    Translation:Humans
    138. Treatment and management issues in ataxic diseases. Handb Clin Neurol. 2012; 103:635-54. Perlman SL. PMID: 21827924.
      View in: PubMed   Mentions: 2     Fields:    Translation:Humans
    139. Analysis of echocardiograms in a large heterogeneous cohort of patients with friedreich ataxia. Am J Cardiol. 2012 Feb 01; 109(3):401-5. Regner SR, Lagedrost SJ, Plappert T, Paulsen EK, Friedman LS, Snyder ML, Perlman SL, Mathews KD, Wilmot GR, Schadt KA, Sutton MS, Lynch DR. PMID: 22078220.
      View in: PubMed   Mentions: 27     Fields:    Translation:Humans
    140. A gene expression phenotype in lymphocytes from Friedreich ataxia patients. Ann Neurol. 2011 Nov; 70(5):790-804. Coppola G, Burnett R, Perlman S, Versano R, Gao F, Plasterer H, Rai M, Saccá F, Filla A, Lynch DR, Rusche JR, Gottesfeld JM, Pandolfo M, Geschwind DH. PMID: 22162061; PMCID: PMC3646419.
      View in: PubMed   Mentions: 35     Fields:    Translation:HumansCells
    141. Initial experience in the treatment of inherited mitochondrial disease with EPI-743. Mol Genet Metab. 2012 Jan; 105(1):91-102. Enns GM, Kinsman SL, Perlman SL, Spicer KM, Abdenur JE, Cohen BH, Amagata A, Barnes A, Kheifets V, Shrader WD, Thoolen M, Blankenberg F, Miller G. PMID: 22115768.
      View in: PubMed   Mentions: 75     Fields:    Translation:HumansCellsCTClinical Trials
    142. An International Survey-based Algorithm for the Pharmacologic Treatment of Chorea in Huntington's Disease. PLoS Curr. 2011 Aug 30; 3:RRN1260. Burgunder JM, Guttman M, Perlman S, Goodman N, van Kammen DP, Goodman L. PMID: 21975581; PMCID: PMC3166256.
      View in: PubMed   Mentions: 31  
    143. Assessment of neurological efficacy of idebenone in pediatric patients with Friedreich's ataxia: data from a 6-month controlled study followed by a 12-month open-label extension study. J Neurol. 2012 Feb; 259(2):284-91. Meier T, Perlman SL, Rummey C, Coppard NJ, Lynch DR. PMID: 21779958.
      View in: PubMed   Mentions: 32     Fields:    Translation:HumansCTClinical Trials
    144. Mortality in Friedreich ataxia. J Neurol Sci. 2011 Aug 15; 307(1-2):46-9. Tsou AY, Paulsen EK, Lagedrost SJ, Perlman SL, Mathews KD, Wilmot GR, Ravina B, Koeppen AH, Lynch DR. PMID: 21652007.
      View in: PubMed   Mentions: 121     Fields:    Translation:Humans
    145. Candidate screening of the TRPC3 gene in cerebellar ataxia. Cerebellum. 2011 Jun; 10(2):296-9. Becker EB, Fogel BL, Rajakulendran S, Dulneva A, Hanna MG, Perlman SL, Geschwind DH, Davies KE. PMID: 21321808; PMCID: PMC3114078.
      View in: PubMed   Mentions: 11     Fields:    Translation:Humans
    146. Idebenone in Friedreich ataxia cardiomyopathy-results from a 6-month phase III study (IONIA). Am Heart J. 2011 Mar; 161(3):639-645.e1. Lagedrost SJ, Sutton MS, Cohen MS, Satou GM, Kaufman BD, Perlman SL, Rummey C, Meier T, Lynch DR. PMID: 21392622.
      View in: PubMed   Mentions: 46     Fields:    Translation:Humans
    147. Spinocerebellar degenerations. Handb Clin Neurol. 2011; 100:113-40. Perlman SL. PMID: 21496573.
      View in: PubMed   Mentions: 9     Fields:    Translation:Humans
    148. Developing connections for affective regulation: age-related changes in emotional brain connectivity. J Exp Child Psychol. 2011 Mar; 108(3):607-20. Perlman SB, Pelphrey KA. PMID: 20971474; PMCID: PMC3029468.
      View in: PubMed   Mentions: 83     Fields:    Translation:Humans
    149. A phase 3, double-blind, placebo-controlled trial of idebenone in friedreich ataxia. Arch Neurol. 2010 Aug; 67(8):941-7. Lynch DR, Perlman SL, Meier T. PMID: 20697044.
      View in: PubMed   Mentions: 75     Fields:    Translation:HumansCTClinical Trials
    150. A rapid, noninvasive immunoassay for frataxin: utility in assessment of Friedreich ataxia. Mol Genet Metab. 2010 Oct-Nov; 101(2-3):238-45. Deutsch EC, Santani AB, Perlman SL, Farmer JM, Stolle CA, Marusich MF, Lynch DR. PMID: 20675166; PMCID: PMC2996613.
      View in: PubMed   Mentions: 51     Fields:    Translation:HumansCells
    151. Measuring the rate of progression in Friedreich ataxia: implications for clinical trial design. Mov Disord. 2010 Mar 15; 25(4):426-32. Friedman LS, Farmer JM, Perlman S, Wilmot G, Gomez CM, Bushara KO, Mathews KD, Subramony SH, Ashizawa T, Balcer LJ, Wilson RB, Lynch DR. PMID: 20063431; PMCID: PMC2954653.
      View in: PubMed   Mentions: 57     Fields:    Translation:HumansCells
    152. Regulatory brain development: balancing emotion and cognition. Soc Neurosci. 2010; 5(5-6):533-42. Perlman SB, Pelphrey KA. PMID: 20419567; PMCID: PMC2950223.
      View in: PubMed   Mentions: 32     Fields:    Translation:Humans
    153. Aberrant splicing of the senataxin gene in a patient with ataxia with oculomotor apraxia type 2. Cerebellum. 2009 Dec; 8(4):448-53. Fogel BL, Lee JY, Perlman S. PMID: 19727998; PMCID: PMC2788137.
      View in: PubMed   Mentions: 12     Fields:    Translation:HumansCells
    154. A proposed bailout for A-T patients? Eur J Neurol. 2009 Jun; 16(6):653-5. Gatti RA, Perlman S. PMID: 19459929; PMCID: PMC3242728.
      View in: PubMed   Mentions: 8     Fields:    Translation:Humans
    155. Patterns of fractional anisotropy changes in white matter of cerebellar peduncles distinguish spinocerebellar ataxia-1 from multiple system atrophy and other ataxia syndromes. Neuroimage. 2009 Aug; 47 Suppl 2:T72-81. Prakash N, Hageman N, Hua X, Toga AW, Perlman SL, Salamon N. PMID: 19446636.
      View in: PubMed   Mentions: 25     Fields:    Translation:HumansCells
    156. A patient with Huntington's disease and long-surviving fetal neural transplants that developed mass lesions. Acta Neuropathol. 2009 Mar; 117(3):329-38. Keene CD, Chang RC, Leverenz JB, Kopyov O, Perlman S, Hevner RF, Born DE, Bird TD, Montine TJ. PMID: 19057918; PMCID: PMC2676786.
      View in: PubMed   Mentions: 36     Fields:    Translation:HumansCells
    157. Health related quality of life measures in Friedreich Ataxia. J Neurol Sci. 2008 Sep 15; 272(1-2):123-8. Epstein E, Farmer JM, Tsou A, Perlman S, Subramony SH, Gomez CM, Ashizawa T, Wilmot GR, Mathews K, Wilson RB, Balcer LJ, Lynch DR. PMID: 18571673.
      View in: PubMed   Mentions: 19     Fields:    Translation:Humans
    158. Physiology and functioning: Parents' vagal tone, emotion socialization, and children's emotion knowledge. J Exp Child Psychol. 2008 Aug; 100(4):308-15. Perlman SB, Camras LA, Pelphrey KA. PMID: 18486947.
      View in: PubMed   Mentions: 23     Fields:    Translation:Humans
    159. A family with combined mutations of the hemophilia A and X-linked adrenoleukodystrophy genes. Neurogenetics. 2008 Jul; 9(3):215-8. Fogel BL, Young P, Thompson AR, Perlman S. PMID: 18481121.
      View in: PubMed   Mentions: 1     Fields:    Translation:HumansCells
    160. Physiological responses to social and physical challenges in children: Quantifying mechanisms supporting social engagement and mobilization behaviors. Dev Psychobiol. 2008 Mar; 50(2):171-82. Heilman KJ, Bal E, Bazhenova OV, Sorokin Y, Perlman SB, Hanley MC, Porges SW. PMID: 18286584.
      View in: PubMed   Mentions: 14     Fields:    Translation:Humans
    161. Antioxidant use in Friedreich ataxia. J Neurol Sci. 2008 Apr 15; 267(1-2):174-6. Myers L, Farmer JM, Wilson RB, Friedman L, Tsou A, Perlman SL, Subramony SH, Gomez CM, Ashizawa T, Wilmot GR, Mathews KD, Balcer LJ, Lynch DR. PMID: 17988688; PMCID: PMC2279016.
      View in: PubMed   Mentions: 14     Fields:    Translation:HumansCellsCTClinical Trials
    162. Medical image. "Hot cross bun" sign. N Z Med J. 2007 Jun 01; 120(1255):U2563. Bhidayasiri R, Perlman S. PMID: 17546111.
      View in: PubMed   Mentions:    Fields:    Translation:Humans
    163. Myelin breakdown and iron changes in Huntington's disease: pathogenesis and treatment implications. Neurochem Res. 2007 Oct; 32(10):1655-64. Bartzokis G, Lu PH, Tishler TA, Fong SM, Oluwadara B, Finn JP, Huang D, Bordelon Y, Mintz J, Perlman S. PMID: 17484051.
      View in: PubMed   Mentions: 120     Fields:    Translation:HumansCells
    164. Clinical features and molecular genetics of autosomal recessive cerebellar ataxias. Lancet Neurol. 2007 Mar; 6(3):245-57. Fogel BL, Perlman S. PMID: 17303531.
      View in: PubMed   Mentions: 102     Fields:    Translation:Humans
    165. Novel mutations in the senataxin DNA/RNA helicase domain in ataxia with oculomotor apraxia 2. Neurology. 2006 Dec 12; 67(11):2083-4. Fogel BL, Perlman S. PMID: 17159128.
      View in: PubMed   Mentions: 32     Fields:    Translation:HumansCells
    166. Ataxias. Clin Geriatr Med. 2006 Nov; 22(4):859-77, vii. Perlman SL. PMID: 17000340.
      View in: PubMed   Mentions: 4     Fields:    Translation:Humans
    167. An approach to the patient with late-onset cerebellar ataxia. Nat Clin Pract Neurol. 2006 Nov; 2(11):629-35; quiz 1 p following 635. Fogel BL, Perlman S. PMID: 17057750.
      View in: PubMed   Mentions: 29     Fields:    Translation:Humans
    168. Histone deacetylase inhibitors reverse gene silencing in Friedreich's ataxia. Nat Chem Biol. 2006 Oct; 2(10):551-8. Herman D, Jenssen K, Burnett R, Soragni E, Perlman SL, Gottesfeld JM. PMID: 16921367.
      View in: PubMed   Mentions: 217     Fields:    Translation:HumansCells
    169. Genome-wide significance for a modifier of age at neurological onset in Huntington's disease at 6q23-24: the HD MAPS study. BMC Med Genet. 2006 Aug 17; 7:71. Li JL, Hayden MR, Warby SC, Durr A, Morrison PJ, Nance M, Ross CA, Margolis RL, Rosenblatt A, Squitieri F, Frati L, Gómez-Tortosa E, García CA, Suchowersky O, Klimek ML, Trent RJ, McCusker E, Novelletto A, Frontali M, Paulsen JS, Jones R, Ashizawa T, Lazzarini A, Wheeler VC, Prakash R, Xu G, Djoussé L, Mysore JS, Gillis T, Hakky M, Cupples LA, Saint-Hilaire MH, Cha JH, Hersch SM, Penney JB, Harrison MB, Perlman SL, Zanko A, Abramson RK, Lechich AJ, Duckett A, Marder K, Conneally PM, Gusella JF, MacDonald ME, Myers RH. PMID: 16914060; PMCID: PMC1586197.
      View in: PubMed   Mentions: 34     Fields:    Translation:HumansCells
    170. Depressive and memory symptoms as presenting features of spinocerebellar ataxia. J Neuropsychiatry Clin Neurosci. 2006; 18(3):420-2. McMurtray AM, Clark DG, Flood MK, Perlman S, Mendez MF. PMID: 16963595.
      View in: PubMed   Mentions: 18     Fields:    Translation:Humans
    171. Late-onset Friedreich ataxia: phenotypic analysis, magnetic resonance imaging findings, and review of the literature. Arch Neurol. 2005 Dec; 62(12):1865-9. Bhidayasiri R, Perlman SL, Pulst SM, Geschwind DH. PMID: 16344344.
      View in: PubMed   Mentions: 40     Fields:    Translation:Humans
    172. Clinical feature profile of spinocerebellar ataxia type 1-8 predicts genetically defined subtypes. Mov Disord. 2005 Nov; 20(11):1405-12. Maschke M, Oehlert G, Xie TD, Perlman S, Subramony SH, Kumar N, Ptacek LJ, Gomez CM. PMID: 16037936.
      View in: PubMed   Mentions: 15     Fields:    Translation:HumansCells
    173. Late-onset pure cerebellar ataxia: differentiating those with and without identifiable mutations. J Neurol Sci. 2005 Nov 15; 238(1-2):41-5. Kerber KA, Jen JC, Perlman S, Baloh RW. PMID: 16109427.
      View in: PubMed   Mentions: 11     Fields:    Translation:Humans
    174. Symptomatic and disease-modifying therapy for the progressive ataxias. Neurologist. 2004 Sep; 10(5):275-89. Perlman SL. PMID: 15335445.
      View in: PubMed   Mentions: 7     Fields:    Translation:HumansCells
    175. Ataxia-telangiectasia: diagnosis and treatment. Semin Pediatr Neurol. 2003 Sep; 10(3):173-82. Perlman S, Becker-Catania S, Gatti RA. PMID: 14653405.
      View in: PubMed   Mentions: 51     Fields:    Translation:Humans
    176. Late-onset Tay-Sachs disease as a Friedreich ataxia phenocopy. Arch Neurol. 2002 Nov; 59(11):1832; author reply 1832. Perlman SL. PMID: 12433276.
      View in: PubMed   Mentions:    Fields:    Translation:Humans
    177. Spinocerebellar degenerations: an update. Curr Neurol Neurosci Rep. 2002 Jul; 2(4):331-41. Perlman SL. PMID: 12044253.
      View in: PubMed   Mentions:    Fields:    Translation:HumansAnimals
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