Publications

  1. 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. Clinical, Radiological and Pathological Features of a Large American Cohort of Spinocerebellar Ataxia (SCA27B). Ann Neurol. 2024 Sep 12.
  2. Koka M, Li H, Akther R, Perlman S, Wong D, Fogel BL, Lynch DR, Chandran V. Long non-coding RNA TUG1 is downregulated in Friedreich's ataxia. Brain Commun. 2024 May 15;6(3):fcae170.
  3. Ngo KJ, Paul KC, Wong D, Kusters CDJ, Bronstein JM, Ritz B, Fogel BL. Lysosomal genes contribute to Parkinson's disease near agriculture with high intensity pesticide use. NPJ Parkinsons Dis. 2024 Apr 25;10(1):87.
  4. Watson S, Ngo KJ, Stevens HA, Wong DY, Kim J, Song Y, Han B, Hyun SI, Khang R, Ryu SW, Lee E, Seo G, Lee H, Lajonchere C, Fogel BL. Cross-Sectional Analysis of Exome Sequencing Diagnosis in Patients With Neurologic Phenotypes Facing Barriers to Clinical Testing. Neurol Genet. 2024 Apr 9;10(3):e200133.
  5. 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. 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.
  6. Linares AJ, Fogel BL. Late-onset hereditary ataxias with dementia. Curr Opin Neurol. 2023 Aug 1;36(4):324-334.
  7. Duggirala N, Ngo KJ, Pagnoni SM, Rosa AL, Fogel BL. Spinocerebellar ataxia type 14 (SCA14) in an Argentinian family: a case report. J Med Case Rep. 2023 Apr 27;17(1):168.
  8. Tommasini D, Fox R, Ngo KJ, Hinman JD, Fogel BL. Alterations in oligodendrocyte transcriptional networks reveal region-specific vulnerabilities to neurological disease. iScience. 2023 Mar 8;26(4):106358.
  9. Tommasini D, Fogel BL. multiWGCNA: an R package for deep mining gene co-expression networks in multi-trait expression data. BMC Bioinformatics. 2023 Mar 24;24(1):115.
  10. 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. 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 Mar 20;12(1):14.
  11. Beijer D, Fogel BL, Beltran S, Danzi MC, Németh AH, Züchner S, Synofzik M, & AGI Ataxia NGS genomics, platforms Working Group (2023). Standards of NGS Data Sharing and Analysis in Ataxias: Recommendations by the NGS Working Group of the Ataxia Global Initiative. Cerebellum (London, England), 10.1007/s12311-023-01537-1.
  12. 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. An intronic GAA repeat expansion in FGF14 causes the autosomal-dominant adult-onset ataxia SCA27B/ATX-FGF14. Am J Hum Genet. 2022 Dec 1:S0002-9297(22)00506-7.
  13. 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). Paving the Way Toward Meaningful Trials in Ataxias: An Ataxia Global Initiative Perspective. Mov Disord. 2022 Jun;37(6):1125-1130.
  14. Hadjinicolaou A, Ngo KJ, Conway DY, Provias JP, Baker SK, Brady LI, Bennett CL, La Spada AR, Fogel BL, Yoon G. De novo pathogenic variant in SETX causes a rapidly progressive neurodegenerative disorder of early childhood-onset with severe axonal polyneuropathy. Acta Neuropathol Commun. 2021 Dec 18;9(1):194.
  15. Wong DY, Fogel BL. 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.
  16. 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. Lack of Association Between GBA Mutations and Motor Complications in European and American Parkinson’s Disease Cohorts. J Parkinsons Dis. 2021 Jul 15.
  17. 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. α-Synuclein in blood exosomes immunoprecipitated using neuronal and oligodendroglial markers distinguishes Parkinson’s disease from multiple system atrophy. Acta Neuropathol. 2021 May 15.
  18. 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. miR-142-3p Regulates Cortical Oligodendrocyte Gene Co-expression Networks Associated with Tauopathy. Hum Mol Genet. 2021 Feb 8:ddaa252.
  19. 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. KMT2B-related disorders: expansion of the phenotypic spectrum and long-term efficacy of deep brain stimulation. Brain. 2020 Nov 5.
  20. 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, Sebire 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, Özkınay 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 M, Vanderver A, Martos-Moreno GÁ, Polychronakos C, Wolf NI, Bernard G. Endocrine and Growth Abnormalities in 4H Leukodystrophy Caused by Variants in POLR3A, POLR3B, and POLR1C. J Clin Endocrinol Metab. 2020 Oct 1.
  21. Ringman JM, Qiao Y, Garbin A, Fisher BE, Fogel B, Watari Knoell K, Chui HC, Shi Y, Rexach JE. Emotional detachment, gait ataxia, and cerebellar dysconnectivity associated with compound heterozygous mutations in the SPG7 gene. Neurocase. 2020 Oct;26(5):299-304. Epub 2020 Sep 7.
  22. Burdekin ED, Fogel BL, Jeste SS, Martinez J, Rexach JE, DiStefano C, Hyde C, Safari T, Wilson RB. The Neurodevelopmental and Motor Phenotype of SCA21 (ATX-TMEM240). J Child Neurol. 2020 Jul 24:883073820943488.
  23. 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. Prevalence of RFC1-mediated spinocerebellar ataxia in a North American ataxia cohort. Neurol Genet. 2020 May 20;6(3):e440.
  24. 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. Chimeric Peptide Species Contribute to Divergent Dipeptide Repeat Pathology in c9ALS/FTD and SCA36. Neuron. 2020 May 03.
  25. Xiao C, M Binkley E, Rexach J, Knight-Johnson A, Khemani P, Fogel BL, Das S, M Stone E, Gomez CM. A family with spinocerebellar ataxia and retinitis pigmentosa attributed to an ELOVL4 mutation. Neurol Genet. 2019 Oct;5(5):e357
  26. 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. A diagnostic ceiling for exome sequencing in cerebellar ataxia and related neurological disorders. Hum Mutat. 2020 Feb;41(2):487-501
  27. Paucar M, Taylor AMR, Hadjivassiliou M, Fogel BL, Svenningsson P. Progressive Ataxia with Elevated Alpha-Fetoprotein: Diagnostic Issues and Review of the Literature. Tremor Other Hyperkinet Mov (N Y). 2019;9.
  28. Ngo KJ, Poke G, Neas K, Fogel BL. Spinocerebellar Ataxia type 29 in a family of Māori descent. Cerebellum Ataxias. 2019;6:14
  29. 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. Diagnostic utility of transcriptome sequencing for rare Mendelian diseases. Genet Med. 2020 Mar;22(3):490-499
  30. 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. 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
  31. Rexach J, Lee H, Martinez-Agosto JA, Németh AH, Fogel BL. Clinical application of next-generation sequencing to the practice of neurology. Lancet Neurol. 2019 May;18(5):492-503
  32. Lee H, Martinez-Agosto JA, Rexach J, Fogel BL. Next generation sequencing in clinical diagnosis. Lancet Neurol. 2019 May;18(5):426
  33. Becherel OJ, Fogel BL, Zeitlin SI, Samaratunga H, Greaney J, Homer H, Lavin MF. Disruption of Spermatogenesis and Infertility in Ataxia with Oculomotor Apraxia Type 2 (AOA2). Cerebellum. 2019 Jun;18(3):448-456
  34. Fan J, Fogel BL. Successful treatment of a genetic childhood ataxia due to riboflavin transporter deficiency. Cerebellum Ataxias. 2018;5:12
  35. 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. Primary brain calcification: an international study reporting novel variants and associated phenotypes. Eur J Hum Genet. 2018 10;26(10):1462-1477
  36. Fogel BL. Collaborative science unites researchers and a novel spastic ataxia gene. Ann Neurol. 2018 06;83(6):1072-1074
  37. 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. Expanding the global prevalence of spinocerebellar ataxia type 42. Neurol Genet. 2018 Jun;4(3):e232
  38. Fogel BL. Autosomal-recessive cerebellar ataxias. Handb Clin Neurol. 2018;147:187-209
  39. Fogel BL. Genetic and genomic testing for neurologic disease in clinical practice. Handb Clin Neurol. 2018;147:11-22
  40. 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. Prevalence of spinocerebellar ataxia 36 in a US population. Neurol Genet. 2017 Aug;3(4):e174
  41. 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. 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
  42. Wolf SM, Thyagarajan B, Fogel BL. 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
  43. Berto S, Usui N, Konopka G, Fogel BL. ELAVL2-regulated transcriptional and splicing networks in human neurons link neurodevelopment and autism. Hum Mol Genet. 2016 06 15;25(12):2451-2464
  44. 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. Whole exome sequencing in patients with white matter abnormalities. Ann Neurol. 2016 06;79(6):1031-1037
  45. Fogel BL, Satya-Murti S, Cohen BH. Clinical exome sequencing in neurologic disease. Neurol Clin Pract. 2016 Apr;6(2):164-176
  46. Aranca TV, Jones TM, Shaw JD, Staffetti JS, Ashizawa T, Kuo SH, Fogel BL, Wilmot GR, Perlman SL, Onyike CU, Ying SH, Zesiewicz TA. Emerging therapies in Friedreich’s ataxia. Neurodegener Dis Manag. 2016;6(1):49-65
  47. Fogel BL, Lee H, Strom SP, Deignan JL, Nelson SF. Clinical exome sequencing in neurogenetic and neuropsychiatric disorders. Ann N Y Acad Sci. 2016 02;1366(1):49-60
  48. Becherel OJ, Sun J, Yeo AJ, Nayler S, Fogel BL, Gao F, Coppola G, Criscuolo C, De Michele G, Wolvetang E, Lavin MF. A new model to study neurodegeneration in ataxia oculomotor apraxia type 2. Hum Mol Genet. 2015 Oct 15;24(20):5759-74
  49. 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. Mutations in XPR1 cause primary familial brain calcification associated with altered phosphate export. Nat Genet. 2015 Jun;47(6):579-81
  50. Fogel BL, Hanson SM, Becker EB. Do mutations in the murine ataxia gene TRPC3 cause cerebellar ataxia in humans? Mov Disord. 2015 Feb;30(2):284-6
  51. 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. Clinical exome sequencing for genetic identification of rare Mendelian disorders. JAMA. 2014 Nov 12;312(18):1880-7
  52. 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. Exome sequencing in the clinical diagnosis of sporadic or familial cerebellar ataxia. JAMA Neurol. 2014 Oct;71(10):1237-46
  53. Fogel BL, Clark MC, Geschwind DH. The neurogenetics of atypical parkinsonian disorders. Semin Neurol. 2014 Apr;34(2):217-24
  54. 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. 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
  55. Bill BR, Lowe JK, Dybuncio CT, Fogel BL. Orchestration of neurodevelopmental programs by RBFOX1: implications for autism spectrum disorder. Int Rev Neurobiol. 2013;113:251-67
  56. Shakkottai VG, Fogel BL. Clinical neurogenetics: autosomal dominant spinocerebellar ataxia. Neurol Clin. 2013 Nov;31(4):987-1007
  57. Fogel BL, Vickrey BG, Walton-Wetzel J, Lieber E, Browner CH. Utilization of genetic testing prior to subspecialist referral for cerebellar ataxia. Genet Test Mol Biomarkers. 2013 Aug;17(8):588-94
  58. 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. 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
  59. Fogel BL, Baker C, Curnow A, Perlman SL, Geschwind DH, Coppola G. Mutations in PDYN are not responsible for multiple system atrophy. J Neurol. 2013 Mar;260(3):927-8
  60. 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, Dobricić V, Fogel BL, García-Estevez D, Goldman J, Goudreau JL, Hopfer S, Janković M, Jaumà S, Jen JC, Kirdlarp S, Klepper J, Kostić V, Lang AE, Linglart A, Maisenbacher MK, Manyam BV, Mazzoni P, Miedzybrodzka Z, Mitarnun W, Mitchell PB, Mueller J, Novaković 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. Mutations in SLC20A2 are a major cause of familial idiopathic basal ganglia calcification. Neurogenetics. 2013 Feb;14(1):11-22
  61. Fogel BL, Pribadi M, Pi S, Perlman SL, Geschwind DH, Coppola G. C9ORF72 expansion is not a significant cause of sporadic spinocerebellar ataxia. Mov Disord. 2012 Dec;27(14):1832-3
  62. 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. Adult polyglucosan body disease: Natural History and Key Magnetic Resonance Imaging Findings. Ann Neurol. 2012 Sep;72(3):433-41
  63. Cho E, Fogel BL. 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
  64. Fogel BL. Childhood cerebellar ataxia. J Child Neurol. 2012 Sep;27(9):1138-45
  65. Fogel BL, Wexler E, Wahnich A, Friedrich T, Vijayendran C, Gao F, Parikshak N, Konopka G, Geschwind DH. RBFOX1 regulates both splicing and transcriptional networks in human neuronal development. Hum Mol Genet. 2012 Oct 01;21(19):4171-86
  66. Fogel BL, Lee JY, Lane J, Wahnich A, Chan S, Huang A, Osborn GE, Klein E, Mamah C, Perlman S, Geschwind DH, Coppola G. Mutations in rare ataxia genes are uncommon causes of sporadic cerebellar ataxia. Mov Disord. 2012 Mar;27(3):442-6
  67. Wexler E, Fogel BL. New-onset psychosis in a patient with spinocerebellar ataxia type 10. Am J Psychiatry. 2011 Dec;168(12):1339-40
  68. Fogel BL. Interpretation of genetic testing: variants of unknown significance. Continuum (Minneap Minn). 2011 Apr;17(2 Neurogenetics):347-52
  69. Becker EB, Fogel BL, Rajakulendran S, Dulneva A, Hanna MG, Perlman SL, Geschwind DH, Davies KE. Candidate screening of the TRPC3 gene in cerebellar ataxia. Cerebellum. 2011 Jun;10(2):296-9
  70. Fogel BL, Lee JY, Perlman S. Aberrant splicing of the senataxin gene in a patient with ataxia with oculomotor apraxia type 2. Cerebellum. 2009 Dec;8(4):448-53
  71. Fogel BL, Young P, Thompson AR, Perlman S. A family with combined mutations of the hemophilia A and X-linked adrenoleukodystrophy genes. Neurogenetics. 2008 Jul;9(3):215-8
  72. Fogel BL, Perlman S. Clinical features and molecular genetics of autosomal recessive cerebellar ataxias. Lancet Neurol. 2007 Mar;6(3):245-57
  73. Fogel BL, Perlman S. Novel mutations in the senataxin DNA/RNA helicase domain in ataxia with oculomotor apraxia 2. Neurology. 2006 Dec 12;67(11):2083-4
  74. Fogel BL, Perlman S. 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
  75. Fogel B, Cardenas D, Ovbiagele B. Magnetic resonance imaging abnormalities in the corpus callosum of a patient with neuropsychiatric lupus. Neurologist. 2006 Sep;12(5):271-3
  76. Fogel B, Wu M, Kremen S, Murthy K, Jackson G, Vanek Z. Creutzfeldt-Jakob disease presenting with alien limb sign. Mov Disord. 2006 Jul;21(7):1040-2
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