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One or more keywords matched the following properties of Gomez, Christopher M.
overview 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.
One or more keywords matched the following items that are connected to Gomez, Christopher M.
Item TypeName
Concept Spinocerebellar Ataxias
Academic Article Spinocerebellar ataxia type 6.
Academic Article A conserved eEF2 coding variant in SCA26 leads to loss of translational fidelity and increased susceptibility to proteostatic insult.
Academic Article Second cistron in CACNA1A gene encodes a transcription factor mediating cerebellar development and SCA6.
Academic Article Loss of intrinsic organization of cerebellar networks in spinocerebellar ataxia type 1: correlates with disease severity and duration.
Academic Article The vestibulo-ocular reflex and velocity storage in spinocerebellar ataxia 8.
Academic Article Clinical evaluation of eye movements in spinocerebellar ataxias: a prospective multicenter study.
Academic Article The autosomal dominant spinocerebellar ataxias: emerging mechanistic themes suggest pervasive Purkinje cell vulnerability.
Academic Article Spinocerebellar ataxia in monozygotic twins.
Academic Article Molecular pathogenesis of spinocerebellar ataxia type 6.
Academic Article Spinocerebellar ataxia type 26 maps to chromosome 19p13.3 adjacent to SCA6.
Academic Article Ophthalmologic features of the common spinocerebellar ataxias.
Academic Article Coenzyme Q10 and spinocerebellar ataxias.
Academic Article Clinical characteristics of patients with spinocerebellar ataxias 1, 2, 3 and 6 in the US; a prospective observational study.
Academic Article The neural substrate of predictive motor timing in spinocerebellar ataxia.
Academic Article Clinical feature profile of spinocerebellar ataxia type 1-8 predicts genetically defined subtypes.
Academic Article Frequency of KCNC3 DNA variants as causes of spinocerebellar ataxia 13 (SCA13).
Academic Article Vascular risk factors and clinical progression in spinocerebellar ataxias.
Academic Article The polyglutamine expansion in spinocerebellar ataxia type 6 causes a beta subunit-specific enhanced activation of P/Q-type calcium channels in Xenopus oocytes.
Academic Article Impaired eye movements in presymptomatic spinocerebellar ataxia type 6.
Academic Article Revelations from a bicistronic calcium channel gene.
Academic Article Spinocerebellar ataxia type 6: gaze-evoked and vertical nystagmus, Purkinje cell degeneration, and variable age of onset.
Academic Article 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.
Academic Article Speech characteristics associated with three genotypes of ataxia.
Academic Article Polyglutamine aggregates in SCA6 Purkinje cells: a tail of two toxicities.
Academic Article Spinocerebellar ataxia type 6 knockin mice develop a progressive neuronal dysfunction with age-dependent accumulation of mutant CaV2.1 channels.
Academic Article Neurochemical alterations in spinocerebellar ataxia type 1 and their correlations with clinical status.
Academic Article Evaluation of sleep and daytime somnolence in spinocerebellar ataxia type 6 (SCA6).
Academic Article Distinct neurochemical profiles of spinocerebellar ataxias 1, 2, 6, and cerebellar multiple system atrophy.
Academic Article DnaJ-1 and karyopherin a3 suppress degeneration in a new Drosophila model of Spinocerebellar Ataxia Type 6.
Academic Article Cerebrospinal Fluid Biomarkers in Spinocerebellar Ataxia: A Pilot Study.
Academic Article Depression and clinical progression in spinocerebellar ataxias.
Academic Article Early Cerebellar Network Shifting in Spinocerebellar Ataxia Type 6.
Academic Article An miRNA-mediated therapy for SCA6 blocks IRES-driven translation of the CACNA1A second cistron.
Academic Article Retinal Nerve Fibre Layer and Macular Thinning in Spinocerebellar Ataxia and Cerebellar Multisystem Atrophy.
Academic Article The Initial Symptom and Motor Progression in Spinocerebellar Ataxias.
Academic Article Evaluation of parkinsonism and striatal dopamine transporter loss in patients with spinocerebellar ataxia type 6.
Academic Article Polyglutamine length-dependent toxicity from a1ACT in Drosophila models of spinocerebellar ataxia type 6.
Academic Article Neurochemical abnormalities in premanifest and early spinocerebellar ataxias.
Academic Article Trial-to-trial Adaptation: Parsing out the Roles of Cerebellum and BG in Predictive Motor Timing.
Academic Article Erratum to: Spinocerebellar Ataxia Type 6: Molecular Mechanisms and Calcium Channel Genetics.
Academic Article Dystonia and ataxia progression in spinocerebellar ataxias.
Academic Article Targeting the CACNA1A IRES as a Treatment for Spinocerebellar Ataxia Type 6.
Academic Article Postural Tremor and Ataxia Progression in Spinocerebellar Ataxias.
Academic Article Spinocerebellar [corrected] Ataxia Type 6: Molecular Mechanisms and Calcium Channel Genetics.
Academic Article C9orf72 repeat expansions as genetic modifiers for depression in spinocerebellar ataxias.
Academic Article Dominantly inherited ataxias.
Academic Article Tremor in the Degenerative Cerebellum: Towards the Understanding of Brain Circuitry for Tremor.
Academic Article a1ACT Is Essential for Survival and Early Cerebellar Programming in a Critical Neonatal Window.
Academic Article Sensitivity of Volumetric Magnetic Resonance Imaging and Magnetic Resonance Spectroscopy to Progression of Spinocerebellar Ataxia Type 1.
Academic Article A family with spinocerebellar ataxia and retinitis pigmentosa attributed to an ELOVL4 mutation.
Academic Article Founder Effects of Spinocerebellar Ataxias in the American Continents and the Caribbean.
Academic Article The impact of ethnicity on the clinical presentations of spinocerebellar ataxia type 3.
Academic Article Dysphagia in spinocerebellar ataxias type 1, 2, 3 and 6.
Academic Article Prevalence of RFC1-mediated spinocerebellar ataxia in a North American ataxia cohort.
Academic Article Prodromal Spinocerebellar Ataxia Type 2 Subjects Have Quantifiable Gait and Postural Sway Deficits.
Academic Article Commentary to: "The Pathophysiology and Clinical Manifestations of Spinocerebellar Ataxia Type 6" by Rentiya et al., Cerebellum 2020;19(3):459-464).
Academic Article Gait Variability in Spinocerebellar Ataxia Assessed Using Wearable Inertial Sensors.
Academic Article Genotypic Differences in Networks Supporting Regional Predictors of Speech Rate in Spinocerebellar Ataxia: Preliminary Observations.
Academic Article Intermuscular Coherence in Spinocerebellar Ataxias 3 and 6: a Preliminary Study.
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