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Gomez, Christopher

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Property	Value
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.

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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

Item Type	Name
Concept	Ataxia
Concept	Cerebellar Ataxia
Concept	Gait Ataxia
Concept	Spinocerebellar Ataxias
Concept	Friedreich Ataxia
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	Incidence of dominant spinocerebellar and Friedreich triplet repeats among 361 ataxia families.
Academic Article	Childhood-onset ataxia: testing for large CAG-repeats in SCA2 and SCA7.
Academic Article	Clinical exome sequencing: the new standard in genetic diagnosis.
Academic Article	Cerebellar leukoencephalopathy: most likely histiocytosis-related.
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	(1)H MR spectroscopy in Friedreich's ataxia and ataxia with oculomotor apraxia type 2.
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	Measuring Friedreich ataxia: Interrater reliability of a neurologic rating scale.
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	Dysfunction of the basal ganglia, but not the cerebellum, impairs kinaesthesia.
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	Antioxidant use in Friedreich ataxia.
Academic Article	International Cooperative Ataxia Rating Scale for pharmacological assessment of the cerebellar syndrome. The Ataxia Neuropharmacology Committee of the World Federation of Neurology.
Academic Article	ARSACS goes global.
Academic Article	Impaired eye movements in presymptomatic spinocerebellar ataxia type 6.
Academic Article	Hereditary cerebellar ataxia progressively impairs force adaptation during goal-directed arm movements.
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	Measuring Friedreich ataxia: complementary features of examination and performance measures.
Academic Article	Polyglutamine aggregates in SCA6 Purkinje cells: a tail of two toxicities.
Academic Article	Deficits in ocular and manual tracking due to episodic ataxia type 2.
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	Neurogenetics: The expanding horizons of diagnosis and disease pathogenesis.
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	Novel CACNA1A mutation causes febrile episodic ataxia with interictal cerebellar deficits.
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	Comorbid Medical Conditions in Friedreich Ataxia: Association With Inflammatory Bowel Disease and Growth Hormone Deficiency.
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	Measuring the rate of progression in Friedreich ataxia: implications for clinical trial design.
Academic Article	Analysis of the visual system in Friedreich ataxia.
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	Friedreich ataxia clinical outcome measures: natural history evaluation in 410 participants.
Academic Article	Dystonia and ataxia progression in spinocerebellar ataxias.
Academic Article	FXN methylation predicts expression and clinical outcome in Friedreich ataxia.
Academic Article	Targeting the CACNA1A IRES as a Treatment for Spinocerebellar Ataxia Type 6.
Academic Article	Progression of Friedreich ataxia: quantitative characterization over 5 years.
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	Targeted exome analysis identifies the genetic basis of disease in over 50% of patients with a wide range of ataxia-related phenotypes.
Academic Article	Longitudinal cerebral blood flow changes during speech in hereditary ataxia.
Academic Article	Mapping cerebral blood flow during speech production in hereditary ataxia.
Academic Article	The cerebellum in health and disease.
Academic Article	Health related quality of life measures in Friedreich Ataxia.
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	Health related quality of life in Friedreich Ataxia in a large heterogeneous cohort.
Academic Article	Psychometric properties of the Friedreich Ataxia Rating Scale.
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	Loss-of-function BK channel mutation causes impaired mitochondria and progressive cerebellar ataxia.
Academic Article	Heterozygous STUB1 missense variants cause ataxia, cognitive decline, and STUB1 mislocalization.
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	Scoliosis in Friedreich's ataxia: longitudinal characterization in a large heterogeneous cohort.
Academic Article	Gait Variability in Spinocerebellar Ataxia Assessed Using Wearable Inertial Sensors.
Academic Article	CCG•CGG interruptions in high-penetrance SCA8 families increase RAN translation and protein toxicity.
Academic Article	Genotypic Differences in Networks Supporting Regional Predictors of Speech Rate in Spinocerebellar Ataxia: Preliminary Observations.
Academic Article	Natural History of Friedreich Ataxia: Heterogeneity of Neurologic Progression and Consequences for Clinical Trial Design.
Academic Article	Truncating Variants in RFC1 in Cerebellar Ataxia, Neuropathy, and Vestibular Areflexia Syndrome.
Academic Article	Intermuscular coherence in spinocerebellar ataxias 3 and 6: a preliminary study.
Academic Article	Characterization of a chronic cough in cerebellar ataxia, neuropathy, vestibular areflexia syndrome.
Academic Article	Intermuscular Coherence in Spinocerebellar Ataxias 3 and 6: a Preliminary Study.
Academic Article	Clinical, Radiological and Pathological Features of a Large American Cohort of Spinocerebellar Ataxia (SCA27B).
Grant	Calcium Channels and Hereditary Ataxia
Grant	Developing a novel microRNA-mediated therapeutic approach for SCA6
Grant	AUTOSOMAL DOMINANT ATAXIA
Grant	AIM2010, 3rd Ataxia Investigators Meeting
Grant	Genetic and Molecular Characterization of SCA26
Grant	A novel role for a bicistronic calcium channel gene in neurodevelopment and neurodegeneration
Academic Article	Fatigue Impacts Quality of Life in People with Spinocerebellar Ataxias.
Academic Article	An Exploratory Survey on the Care for Ataxic Patients in the American Continents and the Caribbean.
Academic Article	Quantitative Gait and Balance Outcomes for Ataxia Trials: Consensus Recommendations by the Ataxia Global Initiative Working Group on Digital-Motor Biomarkers.
Academic Article	Early-Life Social Determinants of SCA6 Age at Onset, Severity, and Progression.
Academic Article	SARA captures disparate progression and responsiveness in spinocerebellar ataxias.
Academic Article	The S-Factor, a New Measure of Disease Severity in Spinocerebellar Ataxia: Findings and Implications.
Academic Article	A non-synonymous single nucleotide polymorphism in SIRT6 predicts neurological severity in Friedreich ataxia.
Academic Article	The Cerebellar Cognitive Affective/Schmahmann Syndrome Scale in Spinocerebellar Ataxias.
Academic Article	Reliability of remote video ratings of the scale for assessment and rating of ataxia.
Academic Article	Longitudinal Changes in Patient- and Clinical-Reported Outcomes in Early Spinocerebellar Ataxia Types 1, 2, 3, and 6 from the IDEA Study.
Academic Article	Standing Balance Conditions and Digital Sway Measures for Clinical Trials of Friedreich's Ataxia.
Academic Article	Digital Measures of Postural Sway Quantify Balance Deficits in Spinocerebellar Ataxia.
Academic Article	Gait characteristics in people with Friedreich ataxia: daily life versus clinic measures.
Academic Article	Suicidal Ideation in Spinocerebellar Ataxia.
Academic Article	Spinocerebellar Ataxia Progression Measured with the Patient-Reported Outcome Measure of Ataxia.

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