Christopher M. Gomez

Research Summary
Christopher M. Gomez MD PhD has worked in the field of genetic disorders of the neuromuscular junction (congenital myasthenic syndromes) and cerebellum for more than 25 years. Dr. Gomez’s long term goals are to help characterize the pathogenic mechanisms that cause ataxia, develop treatments and to identify disease and stage-specific biomarkers of ataxia. Dr. Gomez is an expert in neurogenetic disorders, gait and balance disorders, and in the diagnosis and treatment of patients with ataxias -- a family of rare neurodegenerative diseases. Since 1991, Dr. Gomez has been on the medical and research advisory board of the National Ataxia Foundation. He currently serves as the vice chair of the Neurogenetics Section of the American Academy of Neurology. Dr. Gomez's laboratory research concentrates on the molecular and cellular mechanisms of neurodegenerative disease--with a focus on the means by which genetic mutations in ion channels or other essential proteins lead to dominantly inherited neurodegenerative diseases. His research has resulted in more than 50 peer-reviewed publications in scientific journals. Dr. Gomez established The University of Chicago Ataxia Center in 2006 as a specialty clinic and research center devoted to the diagnosis, treatment, and management of ataxias, and as focal points for translational and clinical research. Dr. Gomez has over 20 years of expertise in the evaluation and treatment of patients with diverse forms of degenerative ataxia. Dr. Gomez is a founding member of the Cooperative Ataxia Group, a national consortium of ataxia specialists that launched the fi rst rating scale and natural history studies for Friedreich’s Ataxia (D. Lynch, PI). He is also a member (UC site) of the newly funded Rare Disease Clinical Research Network for Autosomal Dominant Ataxias (T. Ashizawa, PI). By assembling teams composed of physiologists, neuro-imagers and geneticists, Dr. Gomez has been involved since 1993 in genetic, phenotypic, and genotype-phenotype and studies of patients with a wide range of ataxia types. Dr. Gomez helped characterize spinocerebellar ataxia type 6 (SCA6) and episodic ataxia type 2 and discovered SCA26 and SCA32. In the laboratory Dr. Gomez studies the disease process caused by the SCA6, SCA26 and SCA32 mutations and looks for disease and stage-specifi c biomarkers cerebrospinal fl uid of SCA patients.
Education
  • University of California, Los Angeles, CA, Fellowship
  • The University of Chicago, IL, Residency
  • Michael Reese Hospital, Chicago, IL, Internship
  • The University of Chicago, IL,
  • The University of Chicago, IL, Ph.D. Immunology
  • The University of Chicago, IL, B.A. Biology
Biosciences Graduate Program Association
Publications
  1. 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 Jun; 6(3):e440. View in: PubMed

  2. 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. Dysphagia in spinocerebellar ataxias type 1, 2, 3 and 6. J Neurol Sci. 2020 Aug 15; 415:116878. View in: PubMed

  3. Chen DH, Latimer C, Yagi M, Ndugga-Kabuye MK, Heigham E, Jayadev S, Meabon JS, Gomez CM, Keene CD, Cook DG, Raskind WH, Bird TD. Heterozygous STUB1 missense variants cause ataxia, cognitive decline, and STUB1 mislocalization. Neurol Genet. 2020 Apr; 6(2):1-13. View in: PubMed

  4. Du X, Carvalho-de-Souza JL, Wei C, Carrasquel-Ursulaez W, Lorenzo Y, Gonzalez N, Kubota T, Staisch J, Hain T, Petrossian N, Xu M, Latorre R, Bezanilla F, Gomez CM. Loss-of-function BK channel mutation causes impaired mitochondria and progressive cerebellar ataxia. Proc Natl Acad Sci U S A. 2020 03 17; 117(11):6023-6034. View in: PubMed

  5. 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. The impact of ethnicity on the clinical presentations of spinocerebellar ataxia type 3. Parkinsonism Relat Disord. 2020 03; 72:37-43. View in: PubMed

  6. Rodríguez-Labrada R, Martins AC, Magaña JJ, Vazquez-Mojena Y, Medrano-Montero J, Fernandez-Ruíz J, Cisneros B, Teive H, McFarland KN, Saraiva-Pereira ML, Cerecedo-Zapata CM, Gomez CM, Ashizawa T, Velázquez-Pérez L, Jardim LB. Founder Effects of Spinocerebellar Ataxias in the American Continents and the Caribbean. Cerebellum. 2020 Jun; 19(3):446-458. View in: PubMed

  7. 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. Psychometric properties of the Friedreich Ataxia Rating Scale. Neurol Genet. 2019 Dec; 5(6):371. View in: PubMed

  8. Lind T, Lau AS, Gomez C, Rodriguez A, Guan K, Chlebowski C, Zhang A, Chorpita B, Brookman-Frazee L. Emergent life events in the delivery of a caregiver-mediated evidence-based intervention for children with autism spectrum disorder in publicly funded mental health services. Autism. 2020 Jul; 24(5):1286-1299. View in: PubMed

  9. Xiong E, Lynch AE, Corben LA, Delatycki MB, Subramony SH, Bushara K, Gomez CM, Hoyle JC, Yoon G, Ravina B, Mathews KD, Wilmot G, Zesiewicz T, Susan Perlman M, Farmer JM, Rummey C, Lynch DR. Health related quality of life in Friedreich Ataxia in a large heterogeneous cohort. J Neurol Sci. 2020 Mar 15; 410:116642. View in: PubMed

  10. 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. View in: PubMed

  11. Deelchand DK, Joers JM, Ravishankar A, Lyu T, Emir UE, Hutter D, Gomez CM, Bushara KO, Lenglet C, Eberly LE, Öz G. Sensitivity of Volumetric Magnetic Resonance Imaging and Magnetic Resonance Spectroscopy to Progression of Spinocerebellar Ataxia Type 1. Mov Disord Clin Pract. 2019 Sep; 6(7):549-558. View in: PubMed

  12. Du X, Wei C, Hejazi Pastor DP, Rao ER, Li Y, Grasselli G, Godfrey J, Palmenberg AC, Andrade J, Hansel C, Gomez CM. a1ACT Is Essential for Survival and Early Cerebellar Programming in a Critical Neonatal Window. Neuron. 2019 05 22; 102(4):770-785.e7. View in: PubMed

  13. 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. Tremor in the Degenerative Cerebellum: Towards the Understanding of Brain Circuitry for Tremor. Cerebellum. 2019 Jun; 18(3):519-526. View in: PubMed

  14. Gomez CM. The cerebellum in health and disease. Neurosci Lett. 2019 01 01; 688:1. View in: PubMed

  15. Sun M, Johnson AK, Nelakuditi V, Guidugli L, Fischer D, Arndt K, Ma L, Sandford E, Shakkottai V, Boycott K, Chardon JW, Li Z, Del Gaudio D, Burmeister M, Gomez CM, Waggoner DJ, Das S. Targeted exome analysis identifies the genetic basis of disease in over 50% of patients with a wide range of ataxia-related phenotypes. Genet Med. 2019 01; 21(1):195-206. View in: PubMed

  16. Du X, Gomez CM. Erratum to: Spinocerebellar Ataxia Type 6: Molecular Mechanisms and Calcium Channel Genetics. Adv Exp Med Biol. 2018; 1049:E1. View in: PubMed

  17. Joers JM, Deelchand DK, Lyu T, Emir UE, Hutter D, Gomez CM, Bushara KO, Eberly LE, Öz G. Neurochemical abnormalities in premanifest and early spinocerebellar ataxias. Ann Neurol. 2018 04; 83(4):816-829. View in: PubMed

  18. Du X, Gomez CM. Spinocerebellar [corrected] Ataxia Type 6: Molecular Mechanisms and Calcium Channel Genetics. Adv Exp Med Biol. 2018; 1049:147-173. View in: PubMed

  19. Pastor PDH, Du X, Fazal S, Davies AN, Gomez CM. Targeting the CACNA1A IRES as a Treatment for Spinocerebellar Ataxia Type 6. Cerebellum. 2018 02; 17(1):72-77. View in: PubMed

  20. 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. C9orf72 repeat expansions as genetic modifiers for depression in spinocerebellar ataxias. Mov Disord. 2018 03; 33(3):497-498. View in: PubMed

  21. 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. Dystonia and ataxia progression in spinocerebellar ataxias. Parkinsonism Relat Disord. 2017 Dec; 45:75-80. View in: PubMed

  22. 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. Postural Tremor and Ataxia Progression in Spinocerebellar Ataxias. Tremor Other Hyperkinet Mov (N Y). 2017; 7:492. View in: PubMed

  23. Karginov TA, Pastor DPH, Semler BL, Gomez CM. Mammalian Polycistronic mRNAs and Disease. Trends Genet. 2017 02; 33(2):129-142. View in: PubMed

  24. Tsou WL, Qiblawi SH, Hosking RR, Gomez CM, Todi SV. Polyglutamine length-dependent toxicity from a1ACT in Drosophila models of spinocerebellar ataxia type 6. Biol Open. 2016 Dec 15; 5(12):1770-1775. View in: PubMed

  25. 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. The Initial Symptom and Motor Progression in Spinocerebellar Ataxias. Cerebellum. 2017 06; 16(3):615-622. View in: PubMed

  26. 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. Progression of Friedreich ataxia: quantitative characterization over 5 years. Ann Clin Transl Neurol. 2016 09; 3(9):684-94. View in: PubMed

  27. Xie T, Appelbaum D, Bernard J, Padmanaban M, Pu Y, Gomez C. Evaluation of parkinsonism and striatal dopamine transporter loss in patients with spinocerebellar ataxia type 6. J Neurol. 2016 Nov; 263(11):2302-2307. View in: PubMed

  28. Miyazaki Y, Du X, Muramatsu S, Gomez CM. An miRNA-mediated therapy for SCA6 blocks IRES-driven translation of the CACNA1A second cistron. Sci Transl Med. 2016 07 13; 8(347):347ra94. View in: PubMed

  29. 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. Comorbid Medical Conditions in Friedreich Ataxia: Association With Inflammatory Bowel Disease and Growth Hormone Deficiency. J Child Neurol. 2016 08; 31(9):1161-5. View in: PubMed

  30. Lungu OV, Bares M, Liu T, Gomez CM, Cechova I, Ashe J. Trial-to-trial Adaptation: Parsing out the Roles of Cerebellum and BG in Predictive Motor Timing. J Cogn Neurosci. 2016 Jul; 28(7):920-34. View in: PubMed

  31. 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. Depression and clinical progression in spinocerebellar ataxias. Parkinsonism Relat Disord. 2016 Jan; 22:87-92. View in: PubMed

  32. Brouillette AM, Öz G, Gomez CM. Cerebrospinal Fluid Biomarkers in Spinocerebellar Ataxia: A Pilot Study. Dis Markers. 2015; 2015:413098. View in: PubMed

  33. Falcon MI, Gomez CM, Chen EE, Shereen A, Solodkin A. Early Cerebellar Network Shifting in Spinocerebellar Ataxia Type 6. Cereb Cortex. 2016 07; 26(7):3205-18. View in: PubMed

  34. Tsou WL, Hosking RR, Burr AA, Sutton JR, Ouyang M, Du X, Gomez CM, Todi SV. DnaJ-1 and karyopherin a3 suppress degeneration in a new Drosophila model of Spinocerebellar Ataxia Type 6. Hum Mol Genet. 2015 Aug 01; 24(15):4385-96. View in: PubMed

  35. 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. Vascular risk factors and clinical progression in spinocerebellar ataxias. Tremor Other Hyperkinet Mov (N Y). 2015; 5:287. View in: PubMed

  36. Gomez CM, Kawakami H. Neurogenetics: The expanding horizons of diagnosis and disease pathogenesis. Neurology. 2015 Mar 17; 84(11):1070-1. View in: PubMed

  37. 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. Coenzyme Q10 and spinocerebellar ataxias. Mov Disord. 2015 Feb; 30(2):214-20. View in: PubMed

  38. Zhu H, Grajales-Reyes GE, Alicea-Vázquez V, Grajales-Reyes JG, Robinson K, Pytel P, Báez-Pagán CA, Lasalde-Dominicci JA, Gomez CM. Fluoxetine is neuroprotective in slow-channel congenital myasthenic syndrome. Exp Neurol. 2015 Aug; 270:88-94. View in: PubMed

  39. 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. Clinical evaluation of eye movements in spinocerebellar ataxias: a prospective multicenter study. J Neuroophthalmol. 2015 Mar; 35(1):16-21. View in: PubMed

  40. Hekman KE, Gomez CM. The autosomal dominant spinocerebellar ataxias: emerging mechanistic themes suggest pervasive Purkinje cell vulnerability. J Neurol Neurosurg Psychiatry. 2015 May; 86(5):554-61. View in: PubMed

  41. Gomez CM, Das S. Clinical exome sequencing: the new standard in genetic diagnosis. JAMA Neurol. 2014 Oct; 71(10):1215-6. View in: PubMed

  42. Du X, Semler BL, Gomez CM. Revelations from a bicistronic calcium channel gene. Cell Cycle. 2014; 13(6):875-6. View in: PubMed

  43. 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. 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. View in: PubMed

  44. Zhu H, Pytel P, Gomez CM. Selective inhibition of caspases in skeletal muscle reverses the apoptotic synaptic degeneration in slow-channel myasthenic syndrome. Hum Mol Genet. 2014 Jan 01; 23(1):69-77. View in: PubMed

  45. Du X, Wang J, Zhu H, Rinaldo L, Lamar KM, Palmenberg AC, Hansel C, Gomez CM. Second cistron in CACNA1A gene encodes a transcription factor mediating cerebellar development and SCA6. Cell. 2013 Jul 03; 154(1):118-33. View in: PubMed

  46. 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. Analysis of the visual system in Friedreich ataxia. J Neurol. 2013 Sep; 260(9):2362-9. View in: PubMed

  47. Zhu H, Bhattacharyya B, Lin H, Gomez CM. Skeletal muscle calpain acts through nitric oxide and neural miRNAs to regulate acetylcholine release in motor nerve terminals. J Neurosci. 2013 Apr 24; 33(17):7308-7324. View in: PubMed

  48. Traka M, Millen KJ, Collins D, Elbaz B, Kidd GJ, Gomez CM, Popko B. WDR81 is necessary for purkinje and photoreceptor cell survival. J Neurosci. 2013 Apr 17; 33(16):6834-44. View in: PubMed

  49. Koch H, Zanella S, Elsen GE, Smith L, Doi A, Garcia AJ, Wei AD, Xun R, Kirsch S, Gomez CM, Hevner RF, Ramirez JM. Stable respiratory activity requires both P/Q-type and N-type voltage-gated calcium channels. J Neurosci. 2013 Feb 20; 33(8):3633-45. View in: PubMed

  50. Hekman KE, Yu GY, Brown CD, Zhu H, Du X, Gervin K, Undlien DE, Peterson A, Stevanin G, Clark HB, Pulst SM, Bird TD, White KP, Gomez CM. A conserved eEF2 coding variant in SCA26 leads to loss of translational fidelity and increased susceptibility to proteostatic insult. Hum Mol Genet. 2012 Dec 15; 21(26):5472-83. View in: PubMed

  51. 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. Friedreich ataxia clinical outcome measures: natural history evaluation in 410 participants. J Child Neurol. 2012 Sep; 27(9):1152-8. View in: PubMed

  52. 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. FXN methylation predicts expression and clinical outcome in Friedreich ataxia. Ann Neurol. 2012 Apr; 71(4):487-97. View in: PubMed

  53. Zhu H, Gomez CM. Further evidence for the role of IP 3R 1 in regulating subsynaptic gene expression and neuromuscular transmission. Channels (Austin). 2012 Jan-Feb; 6(1):65-8. View in: PubMed

  54. Zhu H, Bhattacharyya BJ, Lin H, Gomez CM. Skeletal muscle IP3R1 receptors amplify physiological and pathological synaptic calcium signals. J Neurosci. 2011 Oct 26; 31(43):15269-83. View in: PubMed

  55. Paciorkowski AR, Shafrir Y, Hrivnak J, Patterson MC, Tennison MB, Clark HB, Gomez CM. Massive expansion of SCA2 with autonomic dysfunction, retinitis pigmentosa, and infantile spasms. Neurology. 2011 Sep 13; 77(11):1055-60. View in: PubMed

  56. Pula JH, Towle VL, Staszak VM, Cao D, Bernard JT, Gomez CM. Retinal Nerve Fibre Layer and Macular Thinning in Spinocerebellar Ataxia and Cerebellar Multisystem Atrophy. Neuroophthalmology. 2011 Jun; 35(3):108-114. View in: PubMed

  57. Solodkin A, Gomez CM. Spinocerebellar ataxia type 6. Handb Clin Neurol. 2012; 103:461-73. View in: PubMed

  58. Kanagarajah P, Ayyathurai R, Caruso DJ, Gomez C, Gousse AE. Role of botulinum toxin-A in refractory idiopathic overactive bladder patients without detrusor overactivity. Int Urol Nephrol. 2012 Feb; 44(1):91-7. View in: PubMed

  59. Sidtis JJ, Ahn JS, Gomez C, Sidtis D. Speech characteristics associated with three genotypes of ataxia. J Commun Disord. 2011 Jul-Aug; 44(4):478-92. View in: PubMed

  60. Figueroa KP, Waters MF, Garibyan V, Bird TD, Gomez CM, Ranum LP, Minassian NA, Papazian DM, Pulst SM. Frequency of KCNC3 DNA variants as causes of spinocerebellar ataxia 13 (SCA13). PLoS One. 2011 Mar 29; 6(3):e17811. View in: PubMed

  61. Bares M, Lungu OV, Liu T, Waechter T, Gomez CM, Ashe J. The neural substrate of predictive motor timing in spinocerebellar ataxia. Cerebellum. 2011 Jun; 10(2):233-44. View in: PubMed

  62. Solodkin A, Peri E, Chen EE, Ben-Jacob E, Gomez CM. Loss of intrinsic organization of cerebellar networks in spinocerebellar ataxia type 1: correlates with disease severity and duration. Cerebellum. 2011 Jun; 10(2):218-32. View in: PubMed

  63. Oz G, Iltis I, Hutter D, Thomas W, Bushara KO, Gomez CM. Distinct neurochemical profiles of spinocerebellar ataxias 1, 2, 6, and cerebellar multiple system atrophy. Cerebellum. 2011 Jun; 10(2):208-17. View in: PubMed

  64. Pula JH, Gomez CM, Kattah JC. Ophthalmologic features of the common spinocerebellar ataxias. Curr Opin Ophthalmol. 2010 Nov; 21(6):447-53. View in: PubMed

  65. Iltis I, Hutter D, Bushara KO, Clark HB, Gross M, Eberly LE, Gomez CM, Oz G. (1)H MR spectroscopy in Friedreich's ataxia and ataxia with oculomotor apraxia type 2. Brain Res. 2010 Oct 28; 1358:200-10. View in: PubMed

  66. Caruso DJ, Kanagarajah P, Cohen BL, Ayyathurai R, Gomez C, Gousse AE. What is the predictive value of urodynamics to reproduce clinical findings of urinary frequency, urge urinary incontinence, and/or stress urinary incontinence? Int Urogynecol J. 2010 Oct; 21(10):1205-9. View in: PubMed

  67. Sidtis JJ, Strother SC, Groshong A, Naoum A, Rottenberg DA, Gomez C. Longitudinal cerebral blood flow changes during speech in hereditary ataxia. Brain Lang. 2010 Jul; 114(1):43-51. View in: PubMed

  68. Oz G, Hutter D, Tkác I, Clark HB, Gross MD, Jiang H, Eberly LE, Bushara KO, Gomez CM. Neurochemical alterations in spinocerebellar ataxia type 1 and their correlations with clinical status. Mov Disord. 2010 Jul 15; 25(9):1253-61. View in: PubMed

  69. Friedman LS, Farmer JM, Perlman S, Wilmot G, Gomez CM, Bushara KO, Mathews KD, Subramony SH, Ashizawa T, Balcer LJ, Wilson RB, Lynch DR. Measuring the rate of progression in Friedreich ataxia: implications for clinical trial design. Mov Disord. 2010 Mar 15; 25(4):426-32. View in: PubMed

  70. van der Knaap MS, Arts WF, Garbern JY, Hedlund G, Winkler F, Barbosa C, King MD, Bjørnstad A, Hussain N, Beyer MK, Gomez C, Patterson MC, Grattan-Smith P, Timmons M, van der Valk P. Cerebellar leukoencephalopathy: most likely histiocytosis-related. Neurology. 2008 Oct 21; 71(17):1361-7. View in: PubMed

  71. Watase K, Barrett CF, Miyazaki T, Ishiguro T, Ishikawa K, Hu Y, Unno T, Sun Y, Kasai S, Watanabe M, Gomez CM, Mizusawa H, Tsien RW, Zoghbi HY. Spinocerebellar ataxia type 6 knockin mice develop a progressive neuronal dysfunction with age-dependent accumulation of mutant CaV2.1 channels. Proc Natl Acad Sci U S A. 2008 Aug 19; 105(33):11987-92. View in: PubMed

  72. Epstein E, Farmer JM, Tsou A, Perlman S, Subramony SH, Gomez CM, Ashizawa T, Wilmot GR, Mathews K, Wilson RB, Balcer LJ, Lynch DR. Health related quality of life measures in Friedreich Ataxia. J Neurol Sci. 2008 Sep 15; 272(1-2):123-8. View in: PubMed

  73. Christova P, Anderson JH, Gomez CM. Impaired eye movements in presymptomatic spinocerebellar ataxia type 6. Arch Neurol. 2008 Apr; 65(4):530-6. View in: PubMed

  74. 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. Antioxidant use in Friedreich ataxia. J Neurol Sci. 2008 Apr 15; 267(1-2):174-6. View in: PubMed

  75. Groshong JS, Spencer MJ, Bhattacharyya BJ, Kudryashova E, Vohra BP, Zayas R, Wollmann RL, Miller RJ, Gomez CM. Calpain activation impairs neuromuscular transmission in a mouse model of the slow-channel myasthenic syndrome. J Clin Invest. 2007 Oct; 117(10):2903-12. View in: PubMed

  76. Kordasiewicz HB, Gomez CM. Molecular pathogenesis of spinocerebellar ataxia type 6. Neurotherapeutics. 2007 Apr; 4(2):285-94. View in: PubMed

  77. Bares M, Lungu O, Liu T, Waechter T, Gomez CM, Ashe J. Impaired predictive motor timing in patients with cerebellar disorders. Exp Brain Res. 2007 Jun; 180(2):355-65. View in: PubMed

  78. Raike RS, Kordasiewicz HB, Thompson RM, Gomez CM. Dominant-negative suppression of Cav2.1 currents by alpha(1)2.1 truncations requires the conserved interaction domain for beta subunits. Mol Cell Neurosci. 2007 Feb; 34(2):168-77. View in: PubMed

  79. Zayas R, Groshong JS, Gomez CM. Inositol-1,4,5-triphosphate receptors mediate activity-induced synaptic Ca2+ signals in muscle fibers and Ca2+ overload in slow-channel syndrome. Cell Calcium. 2007 Apr; 41(4):343-52. View in: PubMed

  80. Zayas R, Lasalde-Dominicci J, Gomez CM. Macroscopic properties of spontaneous mutations in slow-channel syndrome: correlation by domain and disease severity. Synapse. 2006 Nov; 60(6):441-9. View in: PubMed

  81. Vohra BP, Groshong JS, Zayas R, Wollmann RL, Gomez CM. Activation of apoptotic pathways at muscle fiber synapses is circumscribed and reversible in a slow-channel syndrome model. Neurobiol Dis. 2006 Aug; 23(2):462-70. View in: PubMed

  82. Lynch DR, Farmer JM, Tsou AY, Perlman S, Subramony SH, Gomez CM, Ashizawa T, Wilmot GR, Wilson RB, Balcer LJ. Measuring Friedreich ataxia: complementary features of examination and performance measures. Neurology. 2006 Jun 13; 66(11):1711-6. View in: PubMed

  83. Maschke M, Gomez CM, Tuite PJ, Pickett K, Konczak J. Depth perception in cerebellar and basal ganglia disease. Exp Brain Res. 2006 Oct; 175(1):165-76. View in: PubMed

  84. Howell MJ, Mahowald MW, Gomez CM. Evaluation of sleep and daytime somnolence in spinocerebellar ataxia type 6 (SCA6). Neurology. 2006 May 09; 66(9):1430-1. View in: PubMed

  85. Navedo MF, Lasalde-Dominicci JA, Báez-Pagán CA, Díaz-Pérez L, Rojas LV, Maselli RA, Staub J, Schott K, Zayas R, Gomez CM. Novel beta subunit mutation causes a slow-channel syndrome by enhancing activation and decreasing the rate of agonist dissociation. Mol Cell Neurosci. 2006 May-Jun; 32(1-2):82-90. View in: PubMed

  86. Kordasiewicz HB, Thompson RM, Clark HB, Gomez CM. C-termini of P/Q-type Ca2+ channel alpha1A subunits translocate to nuclei and promote polyglutamine-mediated toxicity. Hum Mol Genet. 2006 May 15; 15(10):1587-99. View in: PubMed

  87. Gomez CM. Translational Neuroscience: a Neurologist's translation. Curr Neurol Neurosci Rep. 2006 Mar; 6(2):85-7. View in: PubMed

  88. Sidtis JJ, Gomez C, Groshong A, Strother SC, Rottenberg DA. Mapping cerebral blood flow during speech production in hereditary ataxia. Neuroimage. 2006 May 15; 31(1):246-54. View in: PubMed

  89. Gomez C, Burt-Pichat B, Mallein-Gerin F, Merle B, Delmas PD, Skerry TM, Vico L, Malaval L, Chenu C. Expression of Semaphorin-3A and its receptors in endochondral ossification: potential role in skeletal development and innervation. Dev Dyn. 2005 Oct; 234(2):393-403. View in: PubMed

  90. Maschke M, Oehlert G, Xie TD, Perlman S, Subramony SH, Kumar N, Ptacek LJ, Gomez CM. Clinical feature profile of spinocerebellar ataxia type 1-8 predicts genetically defined subtypes. Mov Disord. 2005 Nov; 20(11):1405-12. View in: PubMed

  91. Subramony SH, May W, Lynch D, Gomez C, Fischbeck K, Hallett M, Taylor P, Wilson R, Ashizawa T. Measuring Friedreich ataxia: Interrater reliability of a neurologic rating scale. Neurology. 2005 Apr 12; 64(7):1261-2. View in: PubMed

  92. Yu GY, Howell MJ, Roller MJ, Xie TD, Gomez CM. Spinocerebellar ataxia type 26 maps to chromosome 19p13.3 adjacent to SCA6. Ann Neurol. 2005 Mar; 57(3):349-54. View in: PubMed

  93. Engel KC, Anderson JH, Gomez CM, Soechting JF. Deficits in ocular and manual tracking due to episodic ataxia type 2. Mov Disord. 2004 Jul; 19(7):778-787. View in: PubMed

  94. Vohra BP, Groshong JS, Maselli RA, Verity MA, Wollmann RL, Gomez CM. Focal caspase activation underlies the endplate myopathy in slow-channel syndrome. Ann Neurol. 2004 Mar; 55(3):347-52. View in: PubMed

  95. Bushara KO, Nance M, Gomez CM. Antigliadin antibodies in Huntington's disease. Neurology. 2004 Jan 13; 62(1):132-3. View in: PubMed

  96. Gomez CM. ARSACS goes global. Neurology. 2004 Jan 13; 62(1):10-1. View in: PubMed

  97. Subramony SH, Schott K, Raike RS, Callahan J, Langford LR, Christova PS, Anderson JH, Gomez CM. Novel CACNA1A mutation causes febrile episodic ataxia with interictal cerebellar deficits. Ann Neurol. 2003 Dec; 54(6):725-31. View in: PubMed

  98. Gomez CM, Subramony SH. Dominantly inherited ataxias. Semin Pediatr Neurol. 2003 Sep; 10(3):210-22. View in: PubMed

  99. Maschke M, Gomez CM, Ebner TJ, Konczak J. Hereditary cerebellar ataxia progressively impairs force adaptation during goal-directed arm movements. J Neurophysiol. 2004 Jan; 91(1):230-8. View in: PubMed

  100. Maschke M, Gomez CM, Tuite PJ, Konczak J. Dysfunction of the basal ganglia, but not the cerebellum, impairs kinaesthesia. Brain. 2003 Oct; 126(Pt 10):2312-22. View in: PubMed

  101. Anderson JH, Christova PS, Xie TD, Schott KS, Ward K, Gomez CM. Spinocerebellar ataxia in monozygotic twins. Arch Neurol. 2002 Dec; 59(12):1945-51. View in: PubMed

  102. Anderson JH, Yavuz MC, Kazar BM, Christova P, Gomez CM. The vestibulo-ocular reflex and velocity storage in spinocerebellar ataxia 8. Arch Ital Biol. 2002 Oct; 140(4):323-9. View in: PubMed

  103. Gomez CM, Maselli RA, Groshong J, Zayas R, Wollmann RL, Cens T, Charnet P. Active calcium accumulation underlies severe weakness in a panel of mice with slow-channel syndrome. J Neurosci. 2002 Aug 01; 22(15):6447-57. View in: PubMed

  104. Mao R, Aylsworth AS, Potter N, Wilson WG, Breningstall G, Wick MJ, Babovic-Vuksanovic D, Nance M, Patterson MC, Gomez CM, Snow K. Childhood-onset ataxia: testing for large CAG-repeats in SCA2 and SCA7. Am J Med Genet. 2002 Jul 15; 110(4):338-45. View in: PubMed

  105. Delinte A, Gomez CM, Decostre MF, Crommelinck M, Roucoux A. Amplitude transition function of human express saccades. Neurosci Res. 2002 Jan; 42(1):21-34. View in: PubMed

  106. Gomez CM, Maselli RA, Vohra BP, Navedo M, Stiles JR, Charnet P, Schott K, Rojas L, Keesey J, Verity A, Wollmann RW, Lasalde-Dominicci J. Novel delta subunit mutation in slow-channel syndrome causes severe weakness by novel mechanisms. Ann Neurol. 2002 Jan; 51(1):102-12. View in: PubMed

  107. Maselli RA, Kong DZ, Bowe CM, McDonald CM, Ellis WG, Agius MA, Gomez CM, Richman DP, Wollmann RL. Presynaptic congenital myasthenic syndrome due to quantal release deficiency. Neurology. 2001 Jul 24; 57(2):279-89. View in: PubMed

  108. Gomez CM. Polyglutamine aggregates in SCA6 Purkinje cells: a tail of two toxicities. Neurology. 2001 Jun 26; 56(12):1618-9. View in: PubMed

  109. Restituito S, Thompson RM, Eliet J, Raike RS, Riedl M, Charnet P, Gomez CM. The polyglutamine expansion in spinocerebellar ataxia type 6 causes a beta subunit-specific enhanced activation of P/Q-type calcium channels in Xenopus oocytes. J Neurosci. 2000 Sep 01; 20(17):6394-403. View in: PubMed

  110. Chen A, Wu K, Fuchs SY, Tan P, Gomez C, Pan ZQ. The conserved RING-H2 finger of ROC1 is required for ubiquitin ligation. J Biol Chem. 2000 May 19; 275(20):15432-9. View in: PubMed

  111. Moseley ML, Benzow KA, Schut LJ, Bird TD, Gomez CM, Barkhaus PE, Blindauer KA, Labuda M, Pandolfo M, Koob MD, Ranum LP. Incidence of dominant spinocerebellar and Friedreich triplet repeats among 361 ataxia families. Neurology. 1998 Dec; 51(6):1666-71. View in: PubMed

  112. Richman DP, Agius MA, Kirvan CA, Gomez CM, Fairclough RH, Dupont BL, Maselli RA. Antibody effector mechanisms in myasthenia gravis. The complement hypothesis. Ann N Y Acad Sci. 1998 May 13; 841:450-65. View in: PubMed

  113. Gomez CM, Maselli R, Williams JM, Bhattacharyya BB, Wollmann RL, Day JW. Genetic manipulation of AChR responses suggests multiple causes of weakness in slow-channel syndrome. Ann N Y Acad Sci. 1998 May 13; 841:167-80. View in: PubMed

  114. Gouw LG, Castañeda MA, McKenna CK, Digre KB, Pulst SM, Perlman S, Lee MS, Gomez C, Fischbeck K, Gagnon D, Storey E, Bird T, Jeri FR, Ptácek LJ. Analysis of the dynamic mutation in the SCA7 gene shows marked parental effects on CAG repeat transmission. Hum Mol Genet. 1998 Mar; 7(3):525-32. View in: PubMed

  115. Gomez C, Kinkel P, Masdeu J, McKinney W, Polachini I, Tegeler C, Yadav S. American Academy of Neurology guidelines for credentialing in neuroimaging. Report from the task force on updating guidelines for credentialing in neuroimaging. Neurology. 1997 Dec; 49(6):1734-7. View in: PubMed

  116. Gomez CM, Thompson RM, Gammack JT, Perlman SL, Dobyns WB, Truwit CL, Zee DS, Clark HB, Anderson JH. Spinocerebellar ataxia type 6: gaze-evoked and vertical nystagmus, Purkinje cell degeneration, and variable age of onset. Ann Neurol. 1997 Dec; 42(6):933-50. View in: PubMed

  117. Bhattacharyya BJ, Day JW, Gundeck JE, Leonard S, Wollmann RL, Gomez CM. Desensitization of mutant acetylcholine receptors in transgenic mice reduces the amplitude of neuromuscular synaptic currents. Synapse. 1997 Dec; 27(4):367-77. View in: PubMed

  118. Gomez CM, Maselli R, Gundeck JE, Chao M, Day JW, Tamamizu S, Lasalde JA, McNamee M, Wollmann RL. Slow-channel transgenic mice: a model of postsynaptic organellar degeneration at the neuromuscular junction. J Neurosci. 1997 Jun 01; 17(11):4170-9. View in: PubMed

  119. Trouillas P, Takayanagi T, Hallett M, Currier RD, Subramony SH, Wessel K, Bryer A, Diener HC, Massaquoi S, Gomez CM, Coutinho P, Ben Hamida M, Campanella G, Filla A, Schut L, Timann D, Honnorat J, Nighoghossian N, Manyam B. International Cooperative Ataxia Rating Scale for pharmacological assessment of the cerebellar syndrome. The Ataxia Neuropharmacology Committee of the World Federation of Neurology. J Neurol Sci. 1997 Feb 12; 145(2):205-11. View in: PubMed

  120. Gomez CM, Maselli R, Gammack J, Lasalde J, Tamamizu S, Cornblath DR, Lehar M, McNamee M, Kuncl RW. A beta-subunit mutation in the acetylcholine receptor channel gate causes severe slow-channel syndrome. Ann Neurol. 1996 Jun; 39(6):712-23. View in: PubMed

  121. Gomez CM, Bhattacharyya BB, Charnet P, Day JW, Labarca C, Wollmann RL, Lambert EH. A transgenic mouse model of the slow-channel syndrome. Muscle Nerve. 1996 Jan; 19(1):79-87. View in: PubMed

  122. Richman DP, Wollmann RL, Maselli RA, Gomez CM, Corey AL, Agius MA, Fairclough RH. Effector mechanisms of myasthenic antibodies. Ann N Y Acad Sci. 1993 Jun 21; 681:264-73. View in: PubMed

  123. Ranum LP, Lundgren JK, Schut LJ, Ahrens MJ, Perlman S, Aita J, Bird TD, Gomez C, Orr HT. Spinocerebellar ataxia type 1 and Machado-Joseph disease: incidence of CAG expansions among adult-onset ataxia patients from 311 families with dominant, recessive, or sporadic ataxia. Am J Hum Genet. 1995 Sep; 57(3):603-8. View in: PubMed

  124. Gomez CM, Gammack JT. A leucine-to-phenylalanine substitution in the acetylcholine receptor ion channel in a family with the slow-channel syndrome. Neurology. 1995 May; 45(5):982-5. View in: PubMed

  125. Richman DP, Gomez CM, Berman PW, Burres SA, Fitch FW, Arnason BG. Monoclonal anti-acetylcholine receptor antibodies can cause experimental myasthenia. Nature. 1980 Aug 14; 286(5774):738-9. View in: PubMed

  126. Gomez CM, Richman DP, Burres SA, Arnason BG, Berman PW, Fitch FW. Monoclonal hybridoma anti-acetylcholine receptor antibodies: antibody specificity and effect of passive transfer. Ann N Y Acad Sci. 1981; 377:97-109. View in: PubMed

  127. Gomez CM, Wollmann RL, Richman DP. Induction of the morphologic changes of both acute and chronic experimental myasthenia by monoclonal antibody directed against acetylcholine receptor. Acta Neuropathol. 1984; 63(2):131-43. View in: PubMed

  128. Gomez CM, Richman DP. Anti-acetylcholine receptor antibodies directed against the alpha-bungarotoxin binding site induce a unique form of experimental myasthenia. Proc Natl Acad Sci U S A. 1983 Jul; 80(13):4089-93. View in: PubMed

  129. Burres SA, Crayton JW, Gomez CM, Richman DP. Myasthenia induced by monoclonal anti-acetylcholine receptor antibodies: clinical and electrophysiological aspects. Ann Neurol. 1981 Jun; 9(6):563-8. View in: PubMed

  130. Kotagal S, Archer CR, Walsh JK, Gomez C. Hypersomnia, bithalamic lesions, and altered sleep architecture in Kearns-Sayre syndrome. Neurology. 1985 Apr; 35(4):574-7. View in: PubMed

  131. Corey AL, Richman DP, Shuman CA, Gomez CM, Arnason BG. Use of monoclonal antiacetylcholine receptor antibodies to investigate the macrophage inflammation of acute experimental myasthenia gravis: refractoriness to a second episode of acute disease. Neurology. 1985 Oct; 35(10):1455-60. View in: PubMed

  132. Gomez CM, Richman DP. Monoclonal anti-acetylcholine receptor antibodies with differing capacities to induce experimental autoimmune myasthenia gravis. J Immunol. 1985 Jul; 135(1):234-41. View in: PubMed

  133. Kotagal S, Wenger DA, Alcala H, Gomez C, Horenstein S. AB variant GM2 gangliosidosis: cerebrospinal fluid and neuropathologic characteristics. Neurology. 1986 Mar; 36(3):438-40. View in: PubMed

  134. Gomez CM, Richman DP. Chronic experimental autoimmune myasthenia gravis induced by monoclonal antibody to acetylcholine receptor: biochemical and electrophysiologic criteria. J Immunol. 1987 Jul 01; 139(1):73-6. View in: PubMed

  135. Litvan I, Gomez C, Atack JR, Gillespie M, Kask AM, Mouradian MM, Chase TN. Physostigmine treatment of progressive supranuclear palsy. Ann Neurol. 1989 Sep; 26(3):404-7. View in: PubMed

  136. Litvan I, Grafman J, Gomez C, Chase TN. Memory impairment in patients with progressive supranuclear palsy. Arch Neurol. 1989 Jul; 46(7):765-7. View in: PubMed

  137. Urban JL, Kumar V, Kono DH, Gomez C, Horvath SJ, Clayton J, Ando DG, Sercarz EE, Hood L. Restricted use of T cell receptor V genes in murine autoimmune encephalomyelitis raises possibilities for antibody therapy. Cell. 1988 Aug 12; 54(4):577-92. View in: PubMed

  138. Grafman J, Litvan I, Gomez C, Chase TN. Frontal lobe function in progressive supranuclear palsy. Arch Neurol. 1990 May; 47(5):553-8. View in: PubMed

  139. Caplan LR, Brass LM, DeWitt LD, Adams RJ, Gomez C, Otis S, Weschler LR, von Reutern GM. Transcranial Doppler ultrasound: present status. Neurology. 1990 Apr; 40(4):696-700. View in: PubMed

  140. Burns J, Littlefield K, Gomez C, Kumar V. Assessment of antigenic determinants for the human T cell response against myelin basic protein using overlapping synthetic peptides. J Neuroimmunol. 1991 Feb; 31(2):105-13. View in: PubMed