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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 currently serves as the vice chair of the Neurogenetics Section of the American Academy of Neurology. Dr. Gomez's laboratory research concentrates on the molecular and cellular mechanisms of neurodegenerative disease--with a focus on the means by which genetic mutations in ion channels or other essential proteins lead to dominantly inherited neurodegenerative diseases. His research has resulted in more than 50 peer-reviewed publications in scientific journals. Dr. Gomez established The University of Chicago Ataxia Center in 2006 as a specialty clinic and research center devoted to the diagnosis, treatment, and management of ataxias, and as focal points for translational and clinical research. Dr. Gomez has over 20 years of expertise in the evaluation and treatment of patients with diverse forms of degenerative ataxia. Dr. Gomez is a founding member of the Cooperative Ataxia Group, a national consortium of ataxia specialists that launched the fi rst rating scale and natural history studies for Friedreich’s Ataxia (D. Lynch, PI). He is also a member (UC site) of the newly funded Rare Disease Clinical Research Network for Autosomal Dominant Ataxias (T. Ashizawa, PI). By assembling teams composed of physiologists, neuro-imagers and geneticists, Dr. Gomez has been involved since 1993 in genetic, phenotypic, and genotype-phenotype and studies of patients with a wide range of ataxia types. Dr. Gomez helped characterize spinocerebellar ataxia type 6 (SCA6) and episodic ataxia type 2 and discovered SCA26 and SCA32. In the laboratory Dr. Gomez studies the disease process caused by the SCA6, SCA26 and SCA32 mutations and looks for disease and stage-specifi c biomarkers cerebrospinal fl uid of SCA patients.

One or more keywords matched the following items that are connected to Gomez, Christopher

Item TypeName
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 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 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
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 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.

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