Brent Linden Fogel

Title(s)Professor-in-Residence, Neurology
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    Title(s)Professor-in-Residence, Human Genetics

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    Medical College Of Wisconsin, Milwaukee, WIPHD2001Microbiology & Molecular Genetics
    Medical College of Wisconsin, Milwaukee, WIMD2003Medicine
    Northwestern, Chicago, IL2004Medicine
    UCLA Medical Center, Los Angeles, CA2007Neurology
    UCLA Medical Center, Los Angeles, CA2009Neurogenetics

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    Brent L. Fogel MD, PhD is a Professor in the Departments of Neurology and Human Genetics at the David Geffen School of Medicine at the University of California, Los Angeles (UCLA). Dr. Fogel’s research uses genomics, bioinformatics, and systems biology to understand how genetic mutations and associated impairment of genetic pathways leads to neurodegenerative disorders such as spinocerebellar ataxia or neurodevelopmental conditions. Dr. Fogel also specifically studies the molecular pathogenesis of ataxia with oculomotor apraxia (AOA) and is developing gene therapy approaches to treat this disorder. Clinically, Dr. Fogel directs the UCLA Clinical Neurogenomics Research Center, a department-wide program in Neurology designed to promote and facilitate access to genomic and other cellular and molecular research studies for all UCLA Neurology patients. He also directs the UCLA Neurogenetics Clinic where his work focuses on the use of genomic sequencing to identify rare and novel causes of neurological disease. Dr. Fogel also runs a clinic devoted to patients with AOA and diagnoses and treats various disorders of balance and coordination in the UCLA Ataxia Center. He has authored multiple research and clinical articles, reviews, and book chapters on spinocerebellar ataxia, clinical neurogenetics, and neurodevelopmental disease. Dr. Fogel’s work has been funded, in part, by the American Academy of Neurology / American Brain Foundation, the National Institutes of Health, and the National Ataxia Foundation.
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    Rare and Novel Genetic Variation in the Pathogenesis of Cerebellar Ataxia
    NIH R01NS082094Apr 1, 2013 - Mar 31, 2019
    Role: Principal Investigator
    The Role of Fox-1 in Neurodevelopment and Autistic Spectrum Disorder
    NIH K08MH086297Jul 1, 2009 - Jun 30, 2014
    Role: Principal Investigator

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    Collapse Publications
    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. Core protocol development for phase 2/3 clinical trials in the leukodystrophy vanishing white matter: a consensus statement by the VWM consortium and patient advocates. BMC Neurol. 2023 Aug 17; 23(1):305. Schoenmakers DH, Leferink PS, Vanderver A, Bonkowsky JL, Krägeloh-Mann I, Bernard G, Bertini E, Fatemi A, Fogel BL, Wolf NI, Skwirut D, Buck A, Holberg B, Saunier-Vivar EF, Rauner R, Dekker H, van Bokhoven P, Stellingwerff MD, Berkhof J, van der Knaap MS. PMID: 37592248; PMCID: PMC10433679.
      View in: PubMed   Mentions: 1     Fields:    Translation:HumansCTClinical Trials
    2. Late-onset hereditary ataxias with dementia. Curr Opin Neurol. 2023 08 01; 36(4):324-334. Linares AJ, Fogel BL. PMID: 37382141; PMCID: PMC10524827.
      View in: PubMed   Mentions:    Fields:    Translation:Humans
    3. An intronic GAA repeat expansion in FGF14 causes the autosomal-dominant adult-onset ataxia SCA27B/ATX-FGF14. Am J Hum Genet. 2023 Jun 01; 110(6):1018. Rafehi H, Read J, Szmulewicz DJ, Davies KC, Snell P, Fearnley LG, Scott L, Thomsen M, Gillies G, Pope K, Bennett MF, Munro JE, Ngo KJ, Chen L, Wallis MJ, Butler EG, Kumar KR, Wu KH, Tomlinson SE, Tisch S, Malhotra A, Lee-Archer M, Dolzhenko E, Eberle MA, Roberts LJ, Fogel BL, Brüggemann N, Lohmann K, Delatycki MB, Bahlo M, Lockhart PJ. PMID: 37267898; PMCID: PMC10257192.
      View in: PubMed   Mentions: 7     Fields:    
    4. Spinocerebellar ataxia type 14 (SCA14) in an Argentinian family: a case report. J Med Case Rep. 2023 Apr 27; 17(1):168. Duggirala N, Ngo KJ, Pagnoni SM, Rosa AL, Fogel BL. PMID: 37101238; PMCID: PMC10134643.
      View in: PubMed   Mentions:    Fields:    Translation:Humans
    5. multiWGCNA: an R package for deep mining gene co-expression networks in multi-trait expression data. BMC Bioinformatics. 2023 Mar 24; 24(1):115. Tommasini D, Fogel BL. PMID: 36964502; PMCID: PMC10039544.
      View in: PubMed   Mentions: 2     Fields:    Translation:Animals
    6. Toward a biomarker panel measured in CNS-originating extracellular vesicles for improved differential diagnosis of Parkinson's disease and multiple system atrophy. Transl Neurodegener. 2023 03 20; 12(1):14. Taha HB, Hornung S, Dutta S, Fenwick L, Lahgui O, Howe K, Elabed N, Del Rosario I, Wong DY, Duarte Folle A, Markovic D, Palma JA, Kang UJ, Alcalay RN, Sklerov M, Kaufmann H, Fogel BL, Bronstein JM, Ritz B, Bitan G. PMID: 36935518; PMCID: PMC10026428.
      View in: PubMed   Mentions: 5     Fields:    Translation:HumansCells
    7. Alterations in oligodendrocyte transcriptional networks reveal region-specific vulnerabilities to neurological disease. iScience. 2023 Apr 21; 26(4):106358. Tommasini D, Fox R, Ngo KJ, Hinman JD, Fogel BL. PMID: 36994077; PMCID: PMC10040735.
      View in: PubMed   Mentions: 1  
    8. Standards of NGS Data Sharing and Analysis in Ataxias: Recommendations by the NGS Working Group of the Ataxia Global Initiative. Cerebellum. 2024 Apr; 23(2):391-400. Beijer D, Fogel BL, Beltran S, Danzi MC, Németh AH, Züchner S, Synofzik M, AGI Ataxia NGS genomics, platforms Working Group. PMID: 36869969; PMCID: PMC10951009.
      View in: PubMed   Mentions: 2     Fields:    Translation:Humans
    9. An intronic GAA repeat expansion in FGF14 causes the autosomal-dominant adult-onset ataxia SCA50/ATX-FGF14. Am J Hum Genet. 2023 01 05; 110(1):105-119. Rafehi H, Read J, Szmulewicz DJ, Davies KC, Snell P, Fearnley LG, Scott L, Thomsen M, Gillies G, Pope K, Bennett MF, Munro JE, Ngo KJ, Chen L, Wallis MJ, Butler EG, Kumar KR, Wu KH, Tomlinson SE, Tisch S, Malhotra A, Lee-Archer M, Dolzhenko E, Eberle MA, Roberts LJ, Fogel BL, Brüggemann N, Lohmann K, Delatycki MB, Bahlo M, Lockhart PJ. PMID: 36493768; PMCID: PMC9892775.
      View in: PubMed   Mentions: 27     Fields:    Translation:HumansCells
    10. Paving the Way Toward Meaningful Trials in Ataxias: An Ataxia Global Initiative Perspective. Mov Disord. 2022 06; 37(6):1125-1130. Klockgether T, Ashizawa T, Brais B, Chuang R, Durr A, Fogel B, Greenfield J, Hagen S, Jardim LB, Jiang H, Onodera O, Pedroso JL, Soong BW, Szmulewicz D, Graessner H, Synofzik M, Ataxia Global Initiative (AGI). PMID: 35475582.
      View in: PubMed   Mentions: 10     Fields:    Translation:Humans
    11. De novo pathogenic variant in SETX causes a rapidly progressive neurodegenerative disorder of early childhood-onset with severe axonal polyneuropathy. Acta Neuropathol Commun. 2021 12 18; 9(1):194. Hadjinicolaou A, Ngo KJ, Conway DY, Provias JP, Baker SK, Brady LI, Bennett CL, La Spada AR, Fogel BL, Yoon G. PMID: 34922620; PMCID: PMC8684165.
      View in: PubMed   Mentions: 3     Fields:    Translation:HumansAnimals
    12. 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:    
    13. Acute pharmacogenetic dystonic reactions in a family with the CYP2D6 *41 allele: a case report. J Med Case Rep. 2021 Aug 19; 15(1):432. Wong DY, Fogel BL. PMID: 34407866; PMCID: PMC8375217.
      View in: PubMed   Mentions: 2     Fields:    Translation:Humans
    14. 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: 50     Fields:    Translation:HumansCells
    15. miR-142-3p regulates cortical oligodendrocyte gene co-expression networks associated with tauopathy. Hum Mol Genet. 2021 03 25; 30(1):103-118. Hinman JD, Ngo KJ, Kim D, Chen C, Abraham CR, Ghanbari M, Ikram MA, Kushner SA, Kawaguchi R, Coppola G, Goth K, Bellusci S, Hernandez I, Kosik KS, Fogel BL. PMID: 33555315; PMCID: PMC8496370.
      View in: PubMed   Mentions: 5     Fields:    Translation:HumansAnimalsCells
    16. Endocrine and Growth Abnormalities in 4H Leukodystrophy Caused by Variants in POLR3A, POLR3B, and POLR1C. J Clin Endocrinol Metab. 2021 01 23; 106(2):e660-e674. Pelletier F, Perrier S, Cayami FK, Mirchi A, Saikali S, Tran LT, Ulrick N, Guerrero K, Rampakakis E, van Spaendonk RML, Naidu S, Pohl D, Gibson WT, Demos M, Goizet C, Tejera-Martin I, Potic A, Fogel BL, Brais B, Sylvain M, Sébire G, Lourenço CM, Bonkowsky JL, Catsman-Berrevoets C, Pinto PS, Tirupathi S, Strømme P, de Grauw T, Gieruszczak-Bialek D, Krägeloh-Mann I, Mierzewska H, Philippi H, Rankin J, Atik T, Banwell B, Benko WS, Blaschek A, Bley A, Boltshauser E, Bratkovic D, Brozova K, Cimas I, Clough C, Corenblum B, Dinopoulos A, Dolan G, Faletra F, Fernandez R, Fletcher J, Garcia Garcia ME, Gasparini P, Gburek-Augustat J, Gonzalez Moron D, Hamati A, Harting I, Hertzberg C, Hill A, Hobson GM, Innes AM, Kauffman M, Kirwin SM, Kluger G, Kolditz P, Kotzaeridou U, La Piana R, Liston E, McClintock W, McEntagart M, McKenzie F, Melançon S, Misbahuddin A, Suri M, Monton FI, Moutton S, Murphy RPJ, Nickel M, Onay H, Orcesi S, Özkinay F, Patzer S, Pedro H, Pekic S, Pineda Marfa M, Pizzino A, Plecko B, Poll-The BT, Popovic V, Rating D, Rioux MF, Rodriguez Espinosa N, Ronan A, Ostergaard JR, Rossignol E, Sanchez-Carpintero R, Schossig A, Senbil N, Sønderberg Roos LK, Stevens CA, Synofzik M, Sztriha L, Tibussek D, Timmann D, Tonduti D, van de Warrenburg BP, Vázquez-López M, Venkateswaran S, Wasling P, Wassmer E, Webster RI, Wiegand G, Yoon G, Rotteveel J, Schiffmann R, van der Knaap MS, Vanderver A, Martos-Moreno GÁ, Polychronakos C, Wolf NI, Bernard G. PMID: 33005949; PMCID: PMC7823228.
      View in: PubMed   Mentions: 15     Fields:    Translation:Humans
    17. Lack of Association Between GBA Mutations and Motor Complications in European and American Parkinson's Disease Cohorts. J Parkinsons Dis. 2021; 11(4):1569-1578. Maple-Grødem J, Paul KC, Dalen I, Ngo KJ, Wong D, Macleod AD, Counsell CE, Bäckström D, Forsgren L, Tysnes OB, Kusters CDJ, Fogel BL, Bronstein JM, Ritz B, Alves G. PMID: 34275908; PMCID: PMC8609705.
      View in: PubMed   Mentions: 3     Fields:    Translation:Humans
    18. KMT2B-related disorders: expansion of the phenotypic spectrum and long-term efficacy of deep brain stimulation. Brain. 2020 12 05; 143(11):3242-3261. Cif L, Demailly D, Lin JP, Barwick KE, Sa M, Abela L, Malhotra S, Chong WK, Steel D, Sanchis-Juan A, Ngoh A, Trump N, Meyer E, Vasques X, Rankin J, Allain MW, Applegate CD, Attaripour Isfahani S, Baleine J, Balint B, Bassetti JA, Baple EL, Bhatia KP, Blanchet C, Burglen L, Cambonie G, Seng EC, Bastaraud SC, Cyprien F, Coubes C, d'Hardemare V, Deciphering Developmental Disorders Study, Doja A, Dorison N, Doummar D, Dy-Hollins ME, Farrelly E, Fitzpatrick DR, Fearon C, Fieg EL, Fogel BL, Forman EB, Fox RG, Genomics England Research Consortium, Gahl WA, Galosi S, Gonzalez V, Graves TD, Gregory A, Hallett M, Hasegawa H, Hayflick SJ, Hamosh A, Hully M, Jansen S, Jeong SY, Krier JB, Krystal S, Kumar KR, Laurencin C, Lee H, Lesca G, François LL, Lynch T, Mahant N, Martinez-Agosto JA, Milesi C, Mills KA, Mondain M, Morales-Briceno H, NIHR BioResource, Ostergaard JR, Pal S, Pallais JC, Pavillard F, Perrigault PF, Petersen AK, Polo G, Poulen G, Rinne T, Roujeau T, Rogers C, Roubertie A, Sahagian M, Schaefer E, Selim L, Selway R, Sharma N, Signer R, Soldatos AG, Stevenson DA, Stewart F, Tchan M, Undiagnosed Diseases Network, Verma IC, de Vries BBA, Wilson JL, Wong DA, Zaitoun R, Zhen D, Znaczko A, Dale RC, de Gusmão CM, Friedman J, Fung VSC, King MD, Mohammad SS, Rohena L, Waugh JL, Toro C, Raymond FL, Topf M, Coubes P, Gorman KM, Kurian MA. PMID: 33150406; PMCID: PMC7719027.
      View in: PubMed   Mentions: 33     Fields:    Translation:Humans
    19. Novel NUDT2 variant causes intellectual disability and polyneuropathy. Ann Clin Transl Neurol. 2020 11; 7(11):2320-2325. Diaz F, Khosa S, Niyazov D, Lee H, Person R, Morrow MM, Signer R, Dorrani N, Zheng A, Herzog M, Freundlich R, Undiagnosed Diseases Network, Birath JB, Cervantes-Manzo Y, Martinez-Agosto JA, Palmer C, Nelson SF, Fogel BL, Mishra SK. PMID: 33058507; PMCID: PMC7664258.
      View in: PubMed   Mentions: 3     Fields:    Translation:Humans
    20. Emotional detachment, gait ataxia, and cerebellar dysconnectivity associated with compound heterozygous mutations in the SPG7 gene. Neurocase. 2020 10; 26(5):299-304. Ringman JM, Qiao Y, Garbin A, Fisher BE, Fogel B, Watari Knoell K, Chui HC, Shi Y, Rexach JE. PMID: 32893728; PMCID: PMC7530119.
      View in: PubMed   Mentions:    Fields:    Translation:Humans
    21. The Neurodevelopmental and Motor Phenotype of SCA21 (ATX-TMEM240). J Child Neurol. 2020 12; 35(14):953-962. Burdekin ED, Fogel BL, Jeste SS, Martinez J, Rexach JE, DiStefano C, Hyde C, Safari T, Wilson RB. PMID: 32705938; PMCID: PMC7674185.
      View in: PubMed   Mentions: 2     Fields:    Translation:Humans
    22. 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.
      View in: PubMed   Mentions: 22  
    23. Chimeric Peptide Species Contribute to Divergent Dipeptide Repeat Pathology in c9ALS/FTD and SCA36. Neuron. 2020 07 22; 107(2):292-305.e6. McEachin ZT, Gendron TF, Raj N, García-Murias M, Banerjee A, Purcell RH, Ward PJ, Todd TW, Merritt-Garza ME, Jansen-West K, Hales CM, García-Sobrino T, Quintáns B, Holler CJ, Taylor G, San Millán B, Teijeira S, Yamashita T, Ohkubo R, Boulis NM, Xu C, Wen Z, Streichenberger N, Neuro–CEB Neuropathology Network, Fogel BL, Kukar T, Abe K, Dickson DW, Arias M, Glass JD, Jiang J, Tansey MG, Sobrido MJ, Petrucelli L, Rossoll W, Bassell GJ. PMID: 32375063; PMCID: PMC8138626.
      View in: PubMed   Mentions: 33     Fields:    Translation:HumansAnimalsCells
    24. 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.
      View in: PubMed   Mentions: 35     Fields:    Translation:HumansCells
    25. Diagnostic utility of transcriptome sequencing for rare Mendelian diseases. Genet Med. 2020 03; 22(3):490-499. Lee H, Huang AY, Wang LK, Yoon AJ, Renteria G, Eskin A, Signer RH, Dorrani N, Nieves-Rodriguez S, Wan J, Douine ED, Woods JD, Dell'Angelica EC, Fogel BL, Martin MG, Butte MJ, Parker NH, Wang RT, Shieh PB, Wong DA, Gallant N, Singh KE, Tavyev Asher YJ, Sinsheimer JS, Krakow D, Loo SK, Allard P, Papp JC, Undiagnosed Diseases Network, Palmer CGS, Martinez-Agosto JA, Nelson SF. PMID: 31607746; PMCID: PMC7405636.
      View in: PubMed   Mentions: 84     Fields:    Translation:HumansCells
    26. Spinocerebellar Ataxia type 29 in a family of Māori descent. Cerebellum Ataxias. 2019; 6:14. Ngo KJ, Poke G, Neas K, Fogel BL. PMID: 31632679; PMCID: PMC6790028.
      View in: PubMed   Mentions: 1  
    27. Progressive Ataxia with Elevated Alpha-Fetoprotein: Diagnostic Issues and Review of the Literature. Tremor Other Hyperkinet Mov (N Y). 2019; 9. Paucar M, Taylor AMR, Hadjivassiliou M, Fogel BL, Svenningsson P. PMID: 31656689; PMCID: PMC6790008.
      View in: PubMed   Mentions: 3     Fields:    Translation:Humans
    28. A family with spinocerebellar ataxia and retinitis pigmentosa attributed to an ELOVL4 mutation. Neurol Genet. 2019 10; 5(5):e357. Xiao C, Binkley EM, Rexach J, Knight-Johnson A, Khemani P, Fogel BL, Das S, Stone EM, Gomez CM. PMID: 31750392; PMCID: PMC6812731.
      View in: PubMed   Mentions: 15  
    29. 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.
      View in: PubMed   Mentions: 80     Fields:    Translation:HumansCells
    30. Disruption of Spermatogenesis and Infertility in Ataxia with Oculomotor Apraxia Type 2 (AOA2). Cerebellum. 2019 Jun; 18(3):448-456. Becherel OJ, Fogel BL, Zeitlin SI, Samaratunga H, Greaney J, Homer H, Lavin MF. PMID: 30778901; PMCID: PMC6520128.
      View in: PubMed   Mentions: 11     Fields:    Translation:HumansAnimals
    31. Clinical application of next-generation sequencing to the practice of neurology. Lancet Neurol. 2019 05; 18(5):492-503. Rexach J, Lee H, Martinez-Agosto JA, Németh AH, Fogel BL. PMID: 30981321; PMCID: PMC7055532.
      View in: PubMed   Mentions: 37     Fields:    Translation:Humans
    32. Next generation sequencing in clinical diagnosis. Lancet Neurol. 2019 May; 18(5):426. Lee H, Martinez-Agosto JA, Rexach J, Fogel BL. PMID: 30981320.
      View in: PubMed   Mentions: 6     Fields:    
    33. Successful treatment of a genetic childhood ataxia due to riboflavin transporter deficiency. Cerebellum Ataxias. 2018; 5:12. Fan J, Fogel BL. PMID: 30377535; PMCID: PMC6196015.
      View in: PubMed   Mentions: 4  
    34. Primary brain calcification: an international study reporting novel variants and associated phenotypes. Eur J Hum Genet. 2018 10; 26(10):1462-1477. Ramos EM, Carecchio M, Lemos R, Ferreira J, Legati A, Sears RL, Hsu SC, Panteghini C, Magistrelli L, Salsano E, Esposito S, Taroni F, Richard AC, Tranchant C, Anheim M, Ayrignac X, Goizet C, Vidailhet M, Maltete D, Wallon D, Frebourg T, Pimentel L, Geschwind DH, Vanakker O, Galasko D, Fogel BL, Innes AM, Ross A, Dobyns WB, Alcantara D, O'Driscoll M, Hannequin D, Campion D, French PFBC study group, Oliveira JR, Garavaglia B, Coppola G, Nicolas G. PMID: 29955172; PMCID: PMC6138755.
      View in: PubMed   Mentions: 23     Fields:    Translation:Humans
    35. Collaborative science unites researchers and a novel spastic ataxia gene. Ann Neurol. 2018 06; 83(6):1072-1074. Fogel BL. PMID: 29908061; PMCID: PMC6105536.
      View in: PubMed   Mentions: 3     Fields:    Translation:Humans
    36. 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.
      View in: PubMed   Mentions: 10  
    37. Autosomal-recessive cerebellar ataxias. Handb Clin Neurol. 2018; 147:187-209. Fogel BL. PMID: 29325611.
      View in: PubMed   Mentions: 15     Fields:    Translation:Humans
    38. Genetic and genomic testing for neurologic disease in clinical practice. Handb Clin Neurol. 2018; 147:11-22. Fogel BL. PMID: 29325607.
      View in: PubMed   Mentions: 13     Fields:    Translation:Humans
    39. 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.
      View in: PubMed   Mentions: 9  
    40. Spinocerebellar ataxia type 29 due to mutations in ITPR1: a case series and review of this emerging congenital ataxia. Orphanet J Rare Dis. 2017 06 28; 12(1):121. Zambonin JL, Bellomo A, Ben-Pazi H, Everman DB, Frazer LM, Geraghty MT, Harper AD, Jones JR, Kamien B, Kernohan K, Koenig MK, Lines M, Palmer EE, Richardson R, Segel R, Tarnopolsky M, Vanstone JR, Gibbons M, Collins A, Fogel BL, Care4Rare Canada Consortium, Dudding-Byth T, Boycott KM. PMID: 28659154; PMCID: PMC5490223.
      View in: PubMed   Mentions: 26     Fields:    Translation:Humans
    41. The need to develop a patient-centered precision medicine model for adults with chronic disability. Expert Rev Mol Diagn. 2017 05; 17(5):415-418. Wolf SM, Thyagarajan B, Fogel BL. PMID: 28325089; PMCID: PMC6038920.
      View in: PubMed   Mentions: 4     Fields:    Translation:Humans
    42. ELAVL2-regulated transcriptional and splicing networks in human neurons link neurodevelopment and autism. Hum Mol Genet. 2016 06 15; 25(12):2451-2464. Berto S, Usui N, Konopka G, Fogel BL. PMID: 27260404; PMCID: PMC6086562.
      View in: PubMed   Mentions: 35     Fields:    Translation:HumansCells
    43. Whole exome sequencing in patients with white matter abnormalities. Ann Neurol. 2016 06; 79(6):1031-1037. Vanderver A, Simons C, Helman G, Crawford J, Wolf NI, Bernard G, Pizzino A, Schmidt JL, Takanohashi A, Miller D, Khouzam A, Rajan V, Ramos E, Chowdhury S, Hambuch T, Ru K, Baillie GJ, Grimmond SM, Caldovic L, Devaney J, Bloom M, Evans SH, Murphy JLP, McNeill N, Fogel BL, Leukodystrophy Study Group, Schiffmann R, van der Knaap MS, Taft RJ. PMID: 27159321; PMCID: PMC5354169.
      View in: PubMed   Mentions: 63     Fields:    Translation:Humans
    44. Clinical exome sequencing in neurologic disease. Neurol Clin Pract. 2016 Apr; 6(2):164-176. Fogel BL, Satya-Murti S, Cohen BH. PMID: 27104068; PMCID: PMC4828678.
      View in: PubMed   Mentions: 25  
    45. 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.
      View in: PubMed   Mentions: 29     Fields:    Translation:Humans
    46. Clinical exome sequencing in neurogenetic and neuropsychiatric disorders. Ann N Y Acad Sci. 2016 02; 1366(1):49-60. Fogel BL, Lee H, Strom SP, Deignan JL, Nelson SF. PMID: 26250888; PMCID: PMC4744590.
      View in: PubMed   Mentions: 14     Fields:    Translation:Humans
    47. A new model to study neurodegeneration in ataxia oculomotor apraxia type 2. Hum Mol Genet. 2015 Oct 15; 24(20):5759-74. Becherel OJ, Sun J, Yeo AJ, Nayler S, Fogel BL, Gao F, Coppola G, Criscuolo C, De Michele G, Wolvetang E, Lavin MF. PMID: 26231220; PMCID: PMC4581605.
      View in: PubMed   Mentions: 22     Fields:    Translation:HumansAnimalsCells
    48. Mutations in XPR1 cause primary familial brain calcification associated with altered phosphate export. Nat Genet. 2015 Jun; 47(6):579-81. Legati A, Giovannini D, Nicolas G, López-Sánchez U, Quintáns B, Oliveira JR, Sears RL, Ramos EM, Spiteri E, Sobrido MJ, Carracedo Á, Castro-Fernández C, Cubizolle S, Fogel BL, Goizet C, Jen JC, Kirdlarp S, Lang AE, Miedzybrodzka Z, Mitarnun W, Paucar M, Paulson H, Pariente J, Richard AC, Salins NS, Simpson SA, Striano P, Svenningsson P, Tison F, Unni VK, Vanakker O, Wessels MW, Wetchaphanphesat S, Yang M, Boller F, Campion D, Hannequin D, Sitbon M, Geschwind DH, Battini JL, Coppola G. PMID: 25938945; PMCID: PMC4516721.
      View in: PubMed   Mentions: 125     Fields:    Translation:HumansCells
    49. Do mutations in the murine ataxia gene TRPC3 cause cerebellar ataxia in humans? Mov Disord. 2015 Feb; 30(2):284-6. Fogel BL, Hanson SM, Becker EB. PMID: 25477146; PMCID: PMC4318721.
      View in: PubMed   Mentions: 39     Fields:    Translation:Humans
    50. Clinical exome sequencing for genetic identification of rare Mendelian disorders. JAMA. 2014 Nov 12; 312(18):1880-7. Lee H, Deignan JL, Dorrani N, Strom SP, Kantarci S, Quintero-Rivera F, Das K, Toy T, Harry B, Yourshaw M, Fox M, Fogel BL, Martinez-Agosto JA, Wong DA, Chang VY, Shieh PB, Palmer CG, Dipple KM, Grody WW, Vilain E, Nelson SF. PMID: 25326637; PMCID: PMC4278636.
      View in: PubMed   Mentions: 465     Fields:    Translation:Humans
    51. 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: 115     Fields:    Translation:Humans
    52. The neurogenetics of atypical parkinsonian disorders. Semin Neurol. 2014 Apr; 34(2):217-24. Fogel BL, Clark MC, Geschwind DH. PMID: 24963681; PMCID: PMC4305275.
      View in: PubMed   Mentions: 8     Fields:    Translation:Humans
    53. 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: 27     Fields:    Translation:HumansAnimalsCells
    54. Clinical neurogenetics: autosomal dominant spinocerebellar ataxia. Neurol Clin. 2013 Nov; 31(4):987-1007. Shakkottai VG, Fogel BL. PMID: 24176420; PMCID: PMC3818725.
      View in: PubMed   Mentions: 33     Fields:    Translation:HumansAnimals
    55. Utilization of genetic testing prior to subspecialist referral for cerebellar ataxia. Genet Test Mol Biomarkers. 2013 Aug; 17(8):588-94. Fogel BL, Vickrey BG, Walton-Wetzel J, Lieber E, Browner CH. PMID: 23725007; PMCID: PMC3732434.
      View in: PubMed   Mentions: 6     Fields:    Translation:HumansCTClinical Trials
    56. Analysis of LMNB1 duplications in autosomal dominant leukodystrophy provides insights into duplication mechanisms and allele-specific expression. Hum Mutat. 2013 Aug; 34(8):1160-71. Giorgio E, Rolyan H, Kropp L, Chakka AB, Yatsenko S, Di Gregorio E, Lacerenza D, Vaula G, Talarico F, Mandich P, Toro C, Pierre EE, Labauge P, Capellari S, Cortelli P, Vairo FP, Miguel D, Stubbolo D, Marques LC, Gahl W, Boespflug-Tanguy O, Melberg A, Hassin-Baer S, Cohen OS, Pjontek R, Grau A, Klopstock T, Fogel B, Meijer I, Rouleau G, Bouchard JP, Ganapathiraju M, Vanderver A, Dahl N, Hobson G, Brusco A, Brussino A, Padiath QS. PMID: 23649844; PMCID: PMC3714349.
      View in: PubMed   Mentions: 23     Fields:    Translation:HumansCells
    57. A family with spinocerebellar ataxia type 5 found to have a novel missense mutation within a SPTBN2 spectrin repeat. Cerebellum. 2013 Apr; 12(2):162-4. Cho E, Fogel BL. PMID: 22843192; PMCID: PMC3574192.
      View in: PubMed   Mentions: 14     Fields:    Translation:Humans
    58. 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
    59. Mutations in SLC20A2 are a major cause of familial idiopathic basal ganglia calcification. Neurogenetics. 2013 Feb; 14(1):11-22. Hsu SC, Sears RL, Lemos RR, Quintáns B, Huang A, Spiteri E, Nevarez L, Mamah C, Zatz M, Pierce KD, Fullerton JM, Adair JC, Berner JE, Bower M, Brodaty H, Carmona O, Dobricic V, Fogel BL, García-Estevez D, Goldman J, Goudreau JL, Hopfer S, Jankovic M, Jaumà S, Jen JC, Kirdlarp S, Klepper J, Kostic V, Lang AE, Linglart A, Maisenbacher MK, Manyam BV, Mazzoni P, Miedzybrodzka Z, Mitarnun W, Mitchell PB, Mueller J, Novakovic I, Paucar M, Paulson H, Simpson SA, Svenningsson P, Tuite P, Vitek J, Wetchaphanphesat S, Williams C, Yang M, Schofield PR, de Oliveira JR, Sobrido MJ, Geschwind DH, Coppola G. PMID: 23334463; PMCID: PMC4023541.
      View in: PubMed   Mentions: 58     Fields:    Translation:HumansCells
    60. Orchestration of neurodevelopmental programs by RBFOX1: implications for autism spectrum disorder. Int Rev Neurobiol. 2013; 113:251-67. Bill BR, Lowe JK, Dybuncio CT, Fogel BL. PMID: 24290388; PMCID: PMC4318517.
      View in: PubMed   Mentions: 44     Fields:    Translation:HumansAnimals
    61. 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: 8     Fields:    Translation:Humans
    62. Adult polyglucosan body disease: Natural History and Key Magnetic Resonance Imaging Findings. Ann Neurol. 2012 Sep; 72(3):433-41. Mochel F, Schiffmann R, Steenweg ME, Akman HO, Wallace M, Sedel F, Laforêt P, Levy R, Powers JM, Demeret S, Maisonobe T, Froissart R, Da Nobrega BB, Fogel BL, Natowicz MR, Lubetzki C, Durr A, Brice A, Rosenmann H, Barash V, Kakhlon O, Gomori JM, van der Knaap MS, Lossos A. PMID: 23034915; PMCID: PMC4329926.
      View in: PubMed   Mentions: 51     Fields:    Translation:Humans
    63. Childhood cerebellar ataxia. J Child Neurol. 2012 Sep; 27(9):1138-45. Fogel BL. PMID: 22764177; PMCID: PMC3490706.
      View in: PubMed   Mentions: 20     Fields:    Translation:Humans
    64. RBFOX1 regulates both splicing and transcriptional networks in human neuronal development. Hum Mol Genet. 2012 Oct 01; 21(19):4171-86. Fogel BL, Wexler E, Wahnich A, Friedrich T, Vijayendran C, Gao F, Parikshak N, Konopka G, Geschwind DH. PMID: 22730494; PMCID: PMC3441119.
      View in: PubMed   Mentions: 109     Fields:    Translation:HumansCells
    65. 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
    66. New-onset psychosis in a patient with spinocerebellar ataxia type 10. Am J Psychiatry. 2011 Dec; 168(12):1339-40. Wexler E, Fogel BL. PMID: 22193677.
      View in: PubMed   Mentions: 5     Fields:    Translation:Humans
    67. 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: 10     Fields:    Translation:Humans
    68. Interpretation of genetic testing: variants of unknown significance. Continuum (Minneap Minn). 2011 Apr; 17(2 Neurogenetics):347-52. Fogel BL. PMID: 22810825; PMCID: PMC3587691.
      View in: PubMed   Mentions: 9     Fields:    
    69. 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: 10     Fields:    Translation:HumansCells
    70. 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
    71. 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: 98     Fields:    Translation:Humans
    72. 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: 31     Fields:    Translation:HumansCells
    73. 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: 28     Fields:    Translation:Humans
    74. Magnetic resonance imaging abnormalities in the corpus callosum of a patient with neuropsychiatric lupus. Neurologist. 2006 Sep; 12(5):271-3. Fogel B, Cardenas D, Ovbiagele B. PMID: 16990741.
      View in: PubMed   Mentions: 2     Fields:    Translation:Humans
    75. Creutzfeldt-Jakob disease presenting with alien limb sign. Mov Disord. 2006 Jul; 21(7):1040-2. Fogel B, Wu M, Kremen S, Murthy K, Jackson G, Vanek Z. PMID: 16552737.
      View in: PubMed   Mentions: 2     Fields:    Translation:Humans
    76. Efficient polyadenylation of Rous sarcoma virus RNA requires the negative regulator of splicing element. Nucleic Acids Res. 2002 Feb 01; 30(3):810-7. Fogel BL, McNally LM, McNally MT. PMID: 11809895; PMCID: PMC100303.
      View in: PubMed   Mentions: 14     Fields:    Translation:HumansAnimalsCells
    77. A cellular protein, hnRNP H, binds to the negative regulator of splicing element from Rous sarcoma virus. J Biol Chem. 2000 Oct 13; 275(41):32371-8. Fogel BL, McNally MT. PMID: 10934202.
      View in: PubMed   Mentions: 26     Fields:    Translation:HumansCells
    78. Trace contamination following reuse of anion-exchange DNA purification resins. Biotechniques. 2000 Feb; 28(2):299-302. Fogel BL, McNally MT. PMID: 10683741.
      View in: PubMed   Mentions: 1     Fields:    Translation:PHPublic Health
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