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Gomez, Christopher M.

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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 M.

Item Type	Name
Concept	Acute Disease
Concept	Autoimmune Diseases
Concept	Basal Ganglia Diseases
Concept	Brain Diseases, Metabolic
Concept	Cerebellar Diseases
Concept	Huntington Disease
Concept	Diseases in Twins
Concept	Neurologic Examination
Concept	Neurology
Concept	Motor Neurons
Concept	Nervous System Diseases
Concept	Neuromuscular Junction
Concept	Neuromuscular Diseases
Concept	Neurons
Concept	Neuropsychological Tests
Concept	Peripheral Nervous System Diseases
Concept	Oculomotor Nerve Diseases
Concept	Inflammatory Bowel Diseases
Concept	Vestibular Diseases
Concept	Neuromuscular Agents
Concept	Neuropilin-1
Concept	Disease Progression
Concept	Neuroprotective Agents
Concept	Parkinson Disease
Concept	Neurotoxins
Concept	Gait Disorders, Neurologic
Concept	Genetic Diseases, Inborn
Concept	Thalamic Diseases
Concept	Neurotransmitter Agents
Concept	Neurodegenerative Diseases
Concept	Neuroimaging
Concept	Autonomic Nervous System Diseases
Concept	Disease Models, Animal
Concept	Models, Neurological
Concept	Machado-Joseph Disease
Concept	Genetic Predisposition to Disease
Concept	Neurotoxicity Syndromes
Concept	Neurogenesis
Academic Article	A transgenic mouse model of the slow-channel syndrome.
Academic Article	Slow-channel transgenic mice: a model of postsynaptic organellar degeneration at the neuromuscular junction.
Academic Article	Genetic manipulation of AChR responses suggests multiple causes of weakness in slow-channel syndrome.
Academic Article	Presynaptic congenital myasthenic syndrome due to quantal release deficiency.
Academic Article	Active calcium accumulation underlies severe weakness in a panel of mice with slow-channel syndrome.
Academic Article	Focal caspase activation underlies the endplate myopathy in slow-channel syndrome.
Academic Article	Activation of apoptotic pathways at muscle fiber synapses is circumscribed and reversible in a slow-channel syndrome model.
Academic Article	Calpain activation impairs neuromuscular transmission in a mouse model of the slow-channel myasthenic syndrome.
Academic Article	Induction of the morphologic changes of both acute and chronic experimental myasthenia by monoclonal antibody directed against acetylcholine receptor.
Academic Article	Effector mechanisms of myasthenic antibodies.
Academic Article	Skeletal muscle IP3R1 receptors amplify physiological and pathological synaptic calcium signals.
Academic Article	Use of monoclonal antiacetylcholine receptor antibodies to investigate the macrophage inflammation of acute experimental myasthenia gravis: refractoriness to a second episode of acute disease.
Academic Article	Monoclonal anti-acetylcholine receptor antibodies can cause experimental myasthenia.
Academic Article	Desensitization of mutant acetylcholine receptors in transgenic mice reduces the amplitude of neuromuscular synaptic currents.
Academic Article	Translational Neuroscience: a Neurologist's translation.
Academic Article	Stable respiratory activity requires both P/Q-type and N-type voltage-gated calcium channels.
Academic Article	Further evidence for the role of IP 3R 1 in regulating subsynaptic gene expression and neuromuscular transmission.
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	Skeletal muscle calpain acts through nitric oxide and neural miRNAs to regulate acetylcholine release in motor nerve terminals.
Academic Article	Loss of intrinsic organization of cerebellar networks in spinocerebellar ataxia type 1: correlates with disease severity and duration.
Academic Article	WDR81 is necessary for purkinje and photoreceptor cell survival.
Academic Article	Monoclonal anti-acetylcholine receptor antibodies with differing capacities to induce experimental autoimmune myasthenia gravis.
Academic Article	Incidence of dominant spinocerebellar and Friedreich triplet repeats among 361 ataxia families.
Academic Article	Dominant-negative suppression of Cav2.1 currents by alpha(1)2.1 truncations requires the conserved interaction domain for beta subunits.
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	Hypersomnia, bithalamic lesions, and altered sleep architecture in Kearns-Sayre syndrome.
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	Selective inhibition of caspases in skeletal muscle reverses the apoptotic synaptic degeneration in slow-channel myasthenic syndrome.
Academic Article	A beta-subunit mutation in the acetylcholine receptor channel gate causes severe slow-channel syndrome.
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	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	Expression of Semaphorin-3A and its receptors in endochondral ossification: potential role in skeletal development and innervation.
Academic Article	Transcranial Doppler ultrasound: present status.
Academic Article	Antioxidant use in Friedreich ataxia.
Academic Article	Antigliadin antibodies in Huntington's disease.
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	Novel beta subunit mutation causes a slow-channel syndrome by enhancing activation and decreasing the rate of agonist dissociation.
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	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	A leucine-to-phenylalanine substitution in the acetylcholine receptor ion channel in a family with the slow-channel syndrome.
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	Analysis of the dynamic mutation in the SCA7 gene shows marked parental effects on CAG repeat transmission.
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	AB variant GM2 gangliosidosis: cerebrospinal fluid and neuropathologic characteristics.
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	Novel delta subunit mutation in slow-channel syndrome causes severe weakness by novel mechanisms.
Academic Article	Massive expansion of SCA2 with autonomic dysfunction, retinitis pigmentosa, and infantile spasms.
Academic Article	Chronic experimental autoimmune myasthenia gravis induced by monoclonal antibody to acetylcholine receptor: biochemical and electrophysiologic criteria.
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	American Academy of Neurology guidelines for credentialing in neuroimaging. Report from the task force on updating guidelines for credentialing in neuroimaging.
Academic Article	Macroscopic properties of spontaneous mutations in slow-channel syndrome: correlation by domain and disease severity.
Academic Article	Fluoxetine is neuroprotective in slow-channel congenital myasthenic syndrome.
Academic Article	DnaJ-1 and karyopherin a3 suppress degeneration in a new Drosophila model of Spinocerebellar Ataxia Type 6.
Academic Article	Depression and clinical progression in spinocerebellar ataxias.
Academic Article	Early Cerebellar Network Shifting in Spinocerebellar Ataxia Type 6.
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	Mammalian Polycistronic mRNAs and Disease.
Academic Article	Neurochemical abnormalities in premanifest and early spinocerebellar ataxias.
Academic Article	Depth perception in cerebellar and basal ganglia disease.
Academic Article	Amplitude transition function of human express saccades.
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	Assessment of antigenic determinants for the human T cell response against myelin basic protein using overlapping synthetic peptides.
Academic Article	Friedreich ataxia clinical outcome measures: natural history evaluation in 410 participants.
Academic Article	Impaired predictive motor timing in patients with cerebellar disorders.
Academic Article	Dystonia and ataxia progression in spinocerebellar ataxias.
Academic Article	FXN methylation predicts expression and clinical outcome in Friedreich ataxia.
Academic Article	Antibody effector mechanisms in myasthenia gravis. The complement hypothesis.
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	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	Myasthenia induced by monoclonal anti-acetylcholine receptor antibodies: clinical and electrophysiological aspects.
Academic Article	Dominantly inherited ataxias.
Academic Article	Anti-acetylcholine receptor antibodies directed against the alpha-bungarotoxin binding site induce a unique form of experimental myasthenia.
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	Frontal lobe function in progressive supranuclear palsy.
Academic Article	Physostigmine treatment of progressive supranuclear palsy.
Academic Article	Memory impairment in patients with progressive supranuclear palsy.
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	Role of botulinum toxin-A in refractory idiopathic overactive bladder patients without detrusor overactivity.
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	Inertial Sensor Algorithms to Characterize Turning in Neurological Patients With Turn Hesitations.
Academic Article	De Novo variants in EEF2 cause a neurodevelopmental disorder with benign external hydrocephalus.
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	The Transcription Factor, a1ACT, Acts Through a MicroRNA Network to Regulate Neurogenesis and Cell Death During Neonatal Cerebellar Development.
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.
Concept	Neurodevelopmental Disorders
Academic Article	Correction: The Transcription Factor, a1ACT, Acts Through a MicroRNA Network to Regulate Neurogenesis and Cell Death During Neonatal Cerebellar Development.
Academic Article	Intermuscular Coherence in Spinocerebellar Ataxias 3 and 6: a Preliminary Study.

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degenerative
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