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Christopher M. Gomez

InstitutionUniversity of Chicago
AddressChicago IL 60637
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    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 is past 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. In the laboratory Dr. Gomez studies the disease process caused by the SCA6 and SCA26 mutations and looks for disease and stage-specific biomarkers cerebrospinal fluid of SCA patients.

    Collapse Biography 
    Collapse education and training
    University of California, Los Angeles, CAFellowship
    The University of Chicago, ILResidency
    Michael Reese Hospital, Chicago, ILInternship
    The University of Chicago, IL
    The University of Chicago, ILPh.D. Immunology
    The University of Chicago, ILB.A. Biology

    Collapse Bibliographic 
    Collapse selected publications
    Publications listed below are automatically derived from MEDLINE/PubMed and other sources, which might result in incorrect or missing publications. Faculty can login to make corrections and additions.
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    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. Wei C, Benzow K, Koob MD, Gomez CM, Du X. Correction: The Transcription Factor, a1ACT, Acts Through a MicroRNA Network to Regulate Neurogenesis and Cell Death During Neonatal Cerebellar Development. Cerebellum. 2024 Apr; 23(2):876. PMID: 37198370; PMCID: PMC10950944.
      Citations:    Fields:    
    2. Issa NP, Aydin S, Bhatnagar S, Baumgartner NW, Hill J, Aluri S, Valentic CS, Polley E, Gomez CM, Rezania K. Intermuscular Coherence in Spinocerebellar Ataxias 3 and 6: a Preliminary Study. Cerebellum. 2024 Apr; 23(2):601-608. PMID: 37428409; PMCID: PMC10776817.
      Citations:    Fields:    Translation:Humans
    3. Ronco R, Perini C, Currò R, Dominik N, Facchini S, Gennari A, Simone R, Stuart S, Nagy S, Vegezzi E, Quartesan I, El-Saddig A, Lavin T, Tucci A, Szymura A, Novis De Farias LE, Gary A, Delfeld M, Kandikatla P, Niu N, Tawde S, Shaw J, Polke J, Reilly MM, Wood NW, Crespan E, Gomez C, Chen JYH, Schmahmann JD, Gosal D, Houlden H, Das S, Cortese A. Truncating Variants in RFC1 in Cerebellar Ataxia, Neuropathy, and Vestibular Areflexia Syndrome. Neurology. 2023 01 31; 100(5):e543-e554. PMID: 36289003; PMCID: PMC9931080.
      Citations: 9     Fields:    Translation:Humans
    4. Rummey C, Corben LA, Delatycki M, Wilmot G, Subramony SH, Corti M, Bushara K, Duquette A, Gomez C, Hoyle JC, Roxburgh R, Seeberger L, Yoon G, Mathews K, Zesiewicz T, Perlman S, Lynch DR. Natural History of Friedreich Ataxia: Heterogeneity of Neurologic Progression and Consequences for Clinical Trial Design. Neurology. 2022 Oct 03; 99(14):e1499-e1510. PMID: 35817567; PMCID: PMC9576299.
      Citations: 9     Fields:    Translation:Humans
    5. Godfrey JD, Hejazi D, Du X, Wei C, Rao E, Gomez CM. HER2 c-Terminal Fragments Are Expressed via Internal Translation of the HER2 mRNA. Int J Mol Sci. 2022 Aug 23; 23(17). PMID: 36076950; PMCID: PMC9455161.
      Citations:    Fields:    Translation:Humans
    6. Wei C, Benzow K, Koob MD, Gomez CM, Du X. The Transcription Factor, a1ACT, Acts Through a MicroRNA Network to Regulate Neurogenesis and Cell Death During Neonatal Cerebellar Development. Cerebellum. 2023 Aug; 22(4):651-662. PMID: 35729466; PMCID: PMC10307715.
      Citations:    Fields:    Translation:Animals
    7. Perez BA, Shorrock HK, Banez-Coronel M, Zu T, Romano LE, Laboissonniere LA, Reid T, Ikeda Y, Reddy K, Gomez CM, Bird T, Ashizawa T, Schut LJ, Brusco A, Berglund JA, Hasholt LF, Nielsen JE, Subramony SH, Ranum LP. CCG•CGG interruptions in high-penetrance SCA8 families increase RAN translation and protein toxicity. EMBO Mol Med. 2021 11 08; 13(11):e14095. PMID: 34632710; PMCID: PMC8573593.
      Citations: 9     Fields:    Translation:HumansCells
    8. Shah VV, Horak FB, McNames J, Casey H, Hansson Floyd K, El-Gohary M, Schmahmann JD, Rosenthal LS, Perlman S, Gomez CM, Rodriguez-Labrada R, Velázquez-Pérez L. Gait Variability in Spinocerebellar Ataxia Assessed Using Wearable Inertial Sensors. Mov Disord. 2021 12; 36(12):2922-2931. PMID: 34424581.
      Citations: 11     Fields:    Translation:Humans
    9. Shah VV, Curtze C, Mancini M, Carlson-Kuhta P, Nutt JG, Gomez CM, El-Gohary M, Horak FB, McNames J. Inertial Sensor Algorithms to Characterize Turning in Neurological Patients With Turn Hesitations. IEEE Trans Biomed Eng. 2021 09; 68(9):2615-2625. PMID: 33180719; PMCID: PMC8428658.
      Citations: 4     Fields:    Translation:Humans
    10. Sidtis JJ, Gomez CM. Genotypic Differences in Networks Supporting Regional Predictors of Speech Rate in Spinocerebellar Ataxia: Preliminary Observations. Brain Connect. 2021 08; 11(6):408-417. PMID: 34030481; PMCID: PMC8388246.
      Citations: 1     Fields:    Translation:Humans
    11. Rummey C, Flynn JM, Corben LA, Delatycki MB, Wilmot G, Subramony SH, Bushara K, Duquette A, Gomez CM, Hoyle JC, Roxburgh R, Seeberger L, Yoon G, Mathews KD, Zesiewicz T, Perlman S, Lynch DR. Scoliosis in Friedreich's ataxia: longitudinal characterization in a large heterogeneous cohort. Ann Clin Transl Neurol. 2021 06; 8(6):1239-1250. PMID: 33949801; PMCID: PMC8164850.
      Citations: 4     Fields:    Translation:Humans
    12. Olson AN, Yoon G, Nimmo GAM, Gomez CM, Millan F, Schneider A, Pfundt R, de Brouwer APM, Dinman JD, de Vries BBA, Nabais Sá MJ, Willemsen MA. De Novo variants in EEF2 cause a neurodevelopmental disorder with benign external hydrocephalus. Hum Mol Genet. 2021 02 25; 29(24):3892-3899. PMID: 33355653; PMCID: PMC7907856.
      Citations: 6     Fields:    Translation:Humans
    13. Rowland S, Du X, Gomez CM. Commentary to: "The Pathophysiology and Clinical Manifestations of Spinocerebellar Ataxia Type 6" by Rentiya et al., Cerebellum 2020;19(3):459-464). Cerebellum. 2021 06; 20(3):484-485. PMID: 33219436.
      Citations:    Fields:    Translation:Humans
    14. Auburger G, Horak F, Gomez CM, Velázquez-Pérez L, Rodriguez-Labrada R, González-Garcés Y, Arrufat-Pie E, Torres-Vega R, Medrano-Montero J, Ramirez-Bautista B, Vazquez-Mojena Y, Ziemann U. Prodromal Spinocerebellar Ataxia Type 2 Subjects Have Quantifiable Gait and Postural Sway Deficits. Mov Disord. 2021 02; 36(2):471-480. PMID: 33107647.
      Citations: 12     Fields:    Translation:Humans
    15. Cisneros B, McFarland KN, Gomez CM, Ashizawa T, PanAmerican Hereditary Ataxia Network, Rodríguez-Labrada R, Martins AC, Magaña JJ, Vazquez-Mojena Y, Medrano-Montero J, Fernandez-Ruíz J, Teive H, Saraiva-Pereira ML, Cerecedo-Zapata CM, Velázquez-Pérez L, Jardim LB. Founder Effects of Spinocerebellar Ataxias in the American Continents and the Caribbean. Cerebellum. 2020 Jun; 19(3):446-458. PMID: 32086717.
      Citations: 12     Fields:    Translation:Humans
    16. 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. PMID: 32582864; PMCID: PMC7274910.
      Citations: 22     
    17. 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. PMID: 32454319; PMCID: PMC10150947.
      Citations: 1     Fields:    Translation:Humans
    18. Du X, Carvalho-de-Souza JL, Wei C, Kubota T, Staisch J, Hain T, Petrossian N, Xu M, Bezanilla F, Gomez CM, Carrasquel-Ursulaez W, Lorenzo Y, Gonzalez N, Latorre R. 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. PMID: 32132200; PMCID: PMC7084159.
      Citations: 29     Fields:    Translation:HumansAnimalsCells
    19. 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. PMID: 32105964; PMCID: PMC7160000.
      Citations: 10     Fields:    Translation:Humans
    20. 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. PMID: 32211513; PMCID: PMC7073456.
      Citations: 11     
    21. 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 07; 24(5):1286-1299. PMID: 32003224; PMCID: PMC8115197.
      Citations: 3     Fields:    Translation:Humans
    22. 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. PMID: 31901720.
      Citations: 9     Fields:    Translation:Humans
    23. 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. PMID: 32042904; PMCID: PMC6927357.
      Citations: 27     
    24. Xiao C, Binkley EM, Rexach J, Knight-Johnson A, Khemani P, Fogel BL, Das S, Stone EM, Gomez CM. A family with spinocerebellar ataxia and retinitis pigmentosa attributed to an ELOVL4 mutation. Neurol Genet. 2019 10; 5(5):e357. PMID: 31750392; PMCID: PMC6812731.
      Citations: 15     
    25. 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. PMID: 31538089; PMCID: PMC6749810.
      Citations: 14     
    26. 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. PMID: 30830673; PMCID: PMC6520148.
      Citations: 9     Fields:    Translation:Humans
    27. 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. PMID: 30922876; PMCID: PMC6533132.
      Citations: 13     Fields:    Translation:HumansAnimalsCells
    28. Gomez CM. The cerebellum in health and disease. Neurosci Lett. 2019 01 01; 688:1. PMID: 30031034.
      Citations: 1     Fields:    Translation:HumansAnimals
    29. Sun M, Johnson AK, Nelakuditi V, Guidugli L, Fischer D, Arndt K, Ma L, Sandford E, Shakkottai V, Boycott K, Warman-Chardon J, 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. PMID: 29915382; PMCID: PMC6524765.
      Citations: 38     Fields:    Translation:Humans
    30. 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. PMID: 29575033; PMCID: PMC5912959.
      Citations: 42     Fields:    Translation:Humans
    31. 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. PMID: 29374372; PMCID: PMC5809202.
      Citations: 11     Fields:    Translation:HumansAnimalsCells
    32. Du X, Gomez CM. Erratum to: Spinocerebellar Ataxia Type 6: Molecular Mechanisms and Calcium Channel Genetics. Adv Exp Med Biol. 2018; 1049:E1. PMID: 29637516.
      Citations:    Fields:    
    33. Du X, Gomez CM. Spinocerebellar [corrected] Ataxia Type 6: Molecular Mechanisms and Calcium Channel Genetics. Adv Exp Med Biol. 2018; 1049:147-173. PMID: 29427102.
      Citations: 10     Fields:    Translation:HumansAnimalsCells
    34. 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. PMID: 29193335; PMCID: PMC6200142.
      Citations: 3     Fields:    Translation:HumansCells
    35. 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. PMID: 29089256; PMCID: PMC6089251.
      Citations: 25     Fields:    Translation:Humans
    36. 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. PMID: 29057148; PMCID: PMC5647398.
      Citations: 12     Fields:    Translation:HumansCells
    37. 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. PMID: 27848087; PMCID: PMC5429172.
      Citations: 26     Fields:    Translation:HumansCells
    38. Karginov TA, Pastor DPH, Semler BL, Gomez CM. Mammalian Polycistronic mRNAs and Disease. Trends Genet. 2017 02; 33(2):129-142. PMID: 28012572; PMCID: PMC5285393.
      Citations: 22     Fields:    Translation:HumansAnimalsCells
    39. 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. PMID: 27979829; PMCID: PMC5200913.
      Citations: 17     Fields:    
    40. 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. PMID: 27544504.
      Citations: 2     Fields:    Translation:HumansCells
    41. 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. PMID: 27648458; PMCID: PMC5018581.
      Citations: 51     Fields:    
    42. 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. PMID: 27412786; PMCID: PMC5241274.
      Citations: 28     Fields:    Translation:HumansAnimalsCells
    43. 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. PMID: 27071470.
      Citations: 3     Fields:    Translation:Humans
    44. 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. PMID: 26942317.
      Citations: 7     Fields:    Translation:Humans
    45. 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. PMID: 26644294; PMCID: PMC4695274.
      Citations: 50     Fields:    Translation:Humans
    46. 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. PMID: 26209844; PMCID: PMC4898673.
      Citations: 21     Fields:    Translation:Humans
    47. Brouillette AM, Gomez CM, Öz G. Cerebrospinal Fluid Biomarkers in Spinocerebellar Ataxia: A Pilot Study. Dis Markers. 2015; 2015:413098. PMID: 26265793; PMCID: PMC4525756.
      Citations: 12     Fields:    Translation:Humans
    48. 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. PMID: 25954029; PMCID: PMC4492400.
      Citations: 32     Fields:    Translation:HumansAnimalsCells
    49. 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. PMID: 25259863; PMCID: PMC4675453.
      Citations: 27     Fields:    Translation:Humans
    50. Gomez CM, Kawakami H. Neurogenetics: The expanding horizons of diagnosis and disease pathogenesis. Neurology. 2015 Mar 17; 84(11):1070-1. PMID: 25681450.
      Citations:    Fields:    Translation:Humans
    51. 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. PMID: 25713748; PMCID: PMC4314609.
      Citations: 4     Fields:    
    52. 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. PMID: 25449974; PMCID: PMC4674072.
      Citations: 20     Fields:    Translation:Humans
    53. Zhu H, Grajales-Reyes GE, Grajales-Reyes JG, Robinson K, Pytel P, Lasalde-Dominicci JA, Gomez CM, Alicea-Vázquez V, Báez-Pagán CA. Fluoxetine is neuroprotective in slow-channel congenital myasthenic syndrome. Exp Neurol. 2015 Aug; 270:88-94. PMID: 25448156; PMCID: PMC4430442.
      Citations: 4     Fields:    Translation:AnimalsCells
    54. Gomez CM, Das S. Clinical exome sequencing: the new standard in genetic diagnosis. JAMA Neurol. 2014 Oct; 71(10):1215-6. PMID: 25133783.
      Citations: 8     Fields:    Translation:Humans
    55. 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. PMID: 25136055; PMCID: PMC6718294.
      Citations: 23     Fields:    Translation:HumansCells
    56. Du X, Semler BL, Gomez CM. Revelations from a bicistronic calcium channel gene. Cell Cycle. 2014; 13(6):875-6. PMID: 24552819; PMCID: PMC3984306.
      Citations: 2     Fields:    Translation:HumansAnimals
    57. 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. PMID: 24225362; PMCID: PMC3843578.
      Citations: 64     Fields:    Translation:Humans
    58. 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. PMID: 23943790.
      Citations: 11     Fields:    Translation:HumansAnimalsCells
    59. 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. PMID: 23827678; PMCID: PMC3939801.
      Citations: 86     Fields:    Translation:HumansAnimalsCells
    60. 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. PMID: 23775342.
      Citations: 27     Fields:    Translation:Humans
    61. 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. PMID: 23616539; PMCID: PMC3753772.
      Citations: 14     Fields:    Translation:HumansAnimalsCells
    62. 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. PMID: 23595742; PMCID: PMC6618862.
      Citations: 18     Fields:    Translation:HumansAnimalsCells
    63. 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. PMID: 23426690; PMCID: PMC3652398.
      Citations: 18     Fields:    Translation:Animals
    64. 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. PMID: 23001565; PMCID: PMC3516132.
      Citations: 33     Fields:    Translation:HumansAnimalsCells
    65. 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. PMID: 22752494; PMCID: PMC3674496.
      Citations: 15     Fields:    Translation:HumansCells
    66. 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. PMID: 22522441.
      Citations: 56     Fields:    Translation:HumansCells
    67. 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. PMID: 22418950; PMCID: PMC3367676.
      Citations:    Fields:    Translation:AnimalsCells
    68. Solodkin A, Gomez CM. Spinocerebellar ataxia type 6. Handb Clin Neurol. 2012; 103:461-73. PMID: 21827907.
      Citations: 21     Fields:    Translation:Humans
    69. 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. PMID: 22031873; PMCID: PMC3237715.
      Citations: 18     Fields:    Translation:AnimalsCells
    70. 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. PMID: 21880993; PMCID: PMC3174070.
      Citations: 21     Fields:    Translation:HumansCells
    71. 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. PMID: 21643644.
      Citations: 10     Fields:    Translation:Humans
    72. 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. PMID: 21866205; PMCID: PMC3159168.
      Citations: 31     
    73. 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. PMID: 21110147.
      Citations: 19     Fields:    Translation:Humans
    74. 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. PMID: 20886327; PMCID: PMC3091958.
      Citations: 15     Fields:    Translation:Humans
    75. Iltis I, Hutter D, Thomas W, Bushara KO, Gomez CM, Oz G. Distinct neurochemical profiles of spinocerebellar ataxias 1, 2, 6, and cerebellar multiple system atrophy. Cerebellum. 2011 Jun; 10(2):208-17. PMID: 20838948; PMCID: PMC3089811.
      Citations: 41     Fields:    Translation:Humans
    76. 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. PMID: 21592489; PMCID: PMC3159076.
      Citations: 15     Fields:    Translation:Humans
    77. 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. PMID: 21479265; PMCID: PMC3066194.
      Citations: 30     Fields:    Translation:HumansAnimalsCells
    78. Pula JH, Gomez CM, Kattah JC. Ophthalmologic features of the common spinocerebellar ataxias. Curr Opin Ophthalmol. 2010 Nov; 21(6):447-53. PMID: 20811282.
      Citations: 8     Fields:    Translation:Humans
    79. 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. PMID: 20713024; PMCID: PMC2949538.
      Citations: 16     Fields:    Translation:Humans
    80. Hutter D, Clark HB, Gross MD, Jiang H, Eberly LE, Bushara KO, Gomez CM, Oz G, Tkác I. Neurochemical alterations in spinocerebellar ataxia type 1 and their correlations with clinical status. Mov Disord. 2010 Jul 15; 25(9):1253-61. PMID: 20310029; PMCID: PMC2916651.
      Citations: 58     Fields:    Translation:Humans
    81. 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. PMID: 20559620.
      Citations: 6     Fields:    Translation:Humans
    82. 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. PMID: 20417959; PMCID: PMC2935851.
      Citations: 14     Fields:    Translation:Humans
    83. 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. PMID: 20063431; PMCID: PMC2954653.
      Citations: 56     Fields:    Translation:HumansCells
    84. Brookfield KF, Cheung MC, Gomez C, Yang R, Nieder AM, Lee DJ, Koniaris LG. Survival disparities among African American women with invasive bladder cancer in Florida. Cancer. 2009 Sep 15; 115(18):4196-209. PMID: 19569251.
      Citations: 10     Fields:    Translation:Humans
    85. van der Knaap MS, Arts WF, Garbern JY, Hedlund G, Winkler F, Barbosa C, King MD, Hussain N, Beyer MK, Gomez C, Patterson MC, Grattan-Smith P, Timmons M, van der Valk P, Bjørnstad A. Cerebellar leukoencephalopathy: most likely histiocytosis-related. Neurology. 2008 Oct 21; 71(17):1361-7. PMID: 18936429.
      Citations: 5     Fields:    Translation:Humans
    86. 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. PMID: 18687887; PMCID: PMC2503926.
      Citations: 84     Fields:    Translation:AnimalsCells
    87. 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. PMID: 18571673.
      Citations: 20     Fields:    Translation:Humans
    88. Christova P, Anderson JH, Gomez CM. Impaired eye movements in presymptomatic spinocerebellar ataxia type 6. Arch Neurol. 2008 Apr; 65(4):530-6. PMID: 18413478.
      Citations: 28     Fields:    Translation:Humans
    89. 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. PMID: 17988688; PMCID: PMC2279016.
      Citations: 15     Fields:    Translation:HumansCellsCTClinical Trials
    90. 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. PMID: 17853947; PMCID: PMC1974862.
      Citations: 20     Fields:    Translation:HumansAnimalsCells
    91. Kordasiewicz HB, Gomez CM. Molecular pathogenesis of spinocerebellar ataxia type 6. Neurotherapeutics. 2007 Apr; 4(2):285-94. PMID: 17395139.
      Citations: 26     Fields:    Translation:HumansAnimals
    92. 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. PMID: 17256160.
      Citations: 37     Fields:    Translation:Humans
    93. 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. PMID: 17161621; PMCID: PMC3236250.
      Citations: 10     Fields:    Translation:HumansCells
    94. 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. PMID: 16881075.
      Citations: 1     Fields:    Translation:HumansCells
    95. 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. PMID: 16973214.
      Citations: 11     Fields:    Translation:AnimalsCells
    96. 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. PMID: 16815027.
      Citations: 9     Fields:    Translation:HumansAnimalsCells
    97. 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. PMID: 16769945.
      Citations: 71     Fields:    Translation:Humans
    98. 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. PMID: 16733701.
      Citations: 9     Fields:    Translation:Humans
    99. 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. PMID: 16682680.
      Citations: 5     Fields:    Translation:Humans
    100. Navedo MF, Rojas LV, Maselli RA, Staub J, Schott K, Zayas R, Gomez CM, Lasalde-Dominicci JA, Báez-Pagán CA, Díaz-Pérez L. 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. PMID: 16624571; PMCID: PMC4636114.
      Citations: 4     Fields:    Translation:HumansAnimalsCells
    101. 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. PMID: 16595610.
      Citations: 59     Fields:    Translation:HumansAnimalsCells
    102. Gomez CM. Translational Neuroscience: a Neurologist's translation. Curr Neurol Neurosci Rep. 2006 Mar; 6(2):85-7. PMID: 16522259.
      Citations:    Fields:    Translation:HumansAnimals
    103. 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. PMID: 16443374.
      Citations: 22     Fields:    Translation:Humans
    104. 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. PMID: 16037936.
      Citations: 15     Fields:    Translation:HumansCells
    105. 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. PMID: 16145665.
      Citations: 45     Fields:    Translation:AnimalsCells
    106. Subramony SH, May W, Lynch D, Gomez C, Fischbeck K, Hallett M, Taylor P, Wilson R, Ashizawa T, Cooperative Ataxia Group. Measuring Friedreich ataxia: Interrater reliability of a neurologic rating scale. Neurology. 2005 Apr 12; 64(7):1261-2. PMID: 15824358.
      Citations: 130     Fields:    Translation:Humans
    107. 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. PMID: 15732118.
      Citations: 20     Fields:    Translation:HumansCells
    108. 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. PMID: 15254935.
      Citations: 6     Fields:    Translation:Humans
    109. 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. PMID: 14991812.
      Citations: 13     Fields:    Translation:HumansCells
    110. Gomez CM. ARSACS goes global. Neurology. 2004 Jan 13; 62(1):10-1. PMID: 14718687.
      Citations: 15     Fields:    Translation:HumansCells
    111. Bushara KO, Nance M, Gomez CM. Antigliadin antibodies in Huntington's disease. Neurology. 2004 Jan 13; 62(1):132-3. PMID: 14718716.
      Citations: 16     Fields:    Translation:HumansCells
    112. 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. PMID: 14681882.
      Citations: 15     Fields:    Translation:HumansCells
    113. 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. PMID: 13679403.
      Citations: 115     Fields:    Translation:Humans
    114. Gomez CM, Subramony SH. Dominantly inherited ataxias. Semin Pediatr Neurol. 2003 Sep; 10(3):210-22. PMID: 14653409.
      Citations: 3     Fields:    Translation:HumansCells
    115. 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. PMID: 12821507.
      Citations: 81     Fields:    Translation:Humans
    116. 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. PMID: 12470184.
      Citations: 8     Fields:    Translation:Humans
    117. 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. PMID: 12228985.
      Citations: 1     Fields:    Translation:Humans
    118. 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. PMID: 12151524; PMCID: PMC6758155.
      Citations: 22     Fields:    Translation:AnimalsCells
    119. 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. PMID: 12116207.
      Citations: 22     Fields:    Translation:HumansCells
    120. 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. PMID: 11782989; PMCID: PMC4841278.
      Citations: 21     Fields:    Translation:HumansAnimalsCells
    121. 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. PMID: 11814606.
      Citations: 17     Fields:    Translation:Humans
    122. 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. PMID: 11468313.
      Citations: 5     Fields:    Translation:HumansCells
    123. Gomez CM. Polyglutamine aggregates in SCA6 Purkinje cells: a tail of two toxicities. Neurology. 2001 Jun 26; 56(12):1618-9. PMID: 11425924.
      Citations:    Fields:    Translation:HumansCells
    124. Thompson RM, Eliet J, Raike RS, Riedl M, Charnet P, Gomez CM, Restituito S. 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. PMID: 10964945; PMCID: PMC6772973.
      Citations: 26     Fields:    Translation:HumansAnimalsCells
    125. 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. PMID: 10748083.
      Citations: 21     Fields:    Translation:HumansAnimalsCells
    126. Choi KH, Roberts KJ, Gomez C, Grinstead O. Facilitators and barriers to use of the female condom: qualitative interviews with women of diverse ethnicity. Women Health. 1999; 30(1):53-70. PMID: 10813267.
      Citations: 11     Fields:    Translation:Humans
    127. 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. PMID: 9855520.
      Citations: 38     Fields:    Translation:HumansCells
    128. 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. PMID: 9668235.
      Citations: 3     Fields:    Translation:HumansAnimalsCells
    129. 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. PMID: 9668274.
      Citations: 5     Fields:    Translation:HumansAnimalsCells
    130. Gouw LG, McKenna CK, Digre KB, Pulst SM, Perlman S, Lee MS, Gomez C, Fischbeck K, Gagnon D, Storey E, Bird T, Jeri FR, Castañeda MA, 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. PMID: 9467013.
      Citations: 20     Fields:    Translation:HumansCells
    131. 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. PMID: 9372559.
      Citations: 6     Fields:    Translation:AnimalsCells
    132. 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. PMID: 9409383.
      Citations: 1     Fields:    
    133. 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. PMID: 9403487.
      Citations: 79     Fields:    Translation:HumansCells
    134. 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. PMID: 9151734; PMCID: PMC6573568.
      Citations: 31     Fields:    Translation:AnimalsCells
    135. 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, Trouillas P. 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. PMID: 9094050.
      Citations: 439     Fields:    Translation:Humans
    136. 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. PMID: 8651643.
      Citations: 21     Fields:    Translation:HumansCells
    137. 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. PMID: 8538674.
      Citations: 7     Fields:    Translation:HumansAnimalsCells
    138. 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. PMID: 7668288; PMCID: PMC1801263.
      Citations: 41     Fields:    Translation:HumansCells
    139. 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. PMID: 7538206.
      Citations: 17     Fields:    Translation:Humans
    140. 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. PMID: 8357166.
      Citations: 1     Fields:    Translation:HumansAnimalsCells
    141. 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. PMID: 1704014.
      Citations: 1     Fields:    Translation:HumansCells
    142. Grafman J, Litvan I, Gomez C, Chase TN. Frontal lobe function in progressive supranuclear palsy. Arch Neurol. 1990 May; 47(5):553-8. PMID: 2334303.
      Citations: 20     Fields:    Translation:HumansCTClinical Trials
    143. 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. PMID: 2181343.
      Citations: 12     Fields:    Translation:Humans
    144. 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. PMID: 2802540.
      Citations: 9     Fields:    Translation:HumansCTClinical Trials
    145. Litvan I, Grafman J, Gomez C, Chase TN. Memory impairment in patients with progressive supranuclear palsy. Arch Neurol. 1989 Jul; 46(7):765-7. PMID: 2742547.
      Citations: 11     Fields:    Translation:Humans
    146. 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. PMID: 2456857.
      Citations: 144     Fields:    Translation:AnimalsCellsPHPublic Health
    147. 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. PMID: 3035025.
      Citations: 3     Fields:    Translation:AnimalsCells
    148. 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. PMID: 3081832.
      Citations: 2     Fields:    Translation:HumansCells
    149. 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. PMID: 3875805.
      Citations: 3     Fields:    Translation:AnimalsCells
    150. 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. PMID: 3873489.
      Citations: 6     Fields:    Translation:AnimalsCells
    151. 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. PMID: 3982647.
      Citations: 2     Fields:    Translation:Humans
    152. 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. PMID: 6610275.
      Citations: 7     Fields:    Translation:AnimalsCells
    153. 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. PMID: 6575398; PMCID: PMC394206.
      Citations: 31     Fields:    Translation:Animals
    154. 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. PMID: 6167199.
      Citations: 5     Fields:    Translation:AnimalsCells
    155. 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. PMID: 6978667.
      Citations: 5     Fields:    Translation:HumansAnimalsCells
    156. 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. PMID: 7412861.
      Citations: 16     Fields:    Translation:AnimalsCells
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