The University of Chicago Header Logo

Search Result Details

This page shows the details of why an item matched the keywords from your search.
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 Acute Disease
Concept Ataxia
Concept Autoimmune Diseases
Concept DNA Damage
Concept Autistic Disorder
Concept Basal Ganglia Diseases
Concept Urinary Bladder Neoplasms
Concept Brain Diseases, Metabolic
Concept Encephalomyelitis, Autoimmune, Experimental
Concept Cerebrovascular Disorders
Concept Cerebellar Ataxia
Concept Cerebellar Diseases
Concept Huntington Disease
Concept Eye Movements
Concept Deglutition Disorders
Concept Depression
Concept Diseases in Twins
Concept Myasthenia Gravis
Concept Gangliosidoses
Concept Dystonia
Concept Dysarthria
Concept Illusions
Concept Inflammation
Concept Gait
Concept Kearns-Sayre Syndrome
Concept Functional Laterality
Concept Ophthalmoplegia
Concept Nervous System Diseases
Concept Neuromuscular Diseases
Concept Peripheral Nervous System Diseases
Concept Perceptual Disorders
Concept Fatigue
Concept Genetic Markers
Concept Saccades
Concept Vision Disorders
Concept Spasms, Infantile
Concept Retinitis Pigmentosa
Concept Speech Disorders
Concept Disorders of Excessive Somnolence
Concept Tremor
Concept Syndrome
Concept Oculomotor Nerve Diseases
Concept Trinucleotide Repeat Expansion
Concept Inflammatory Bowel Diseases
Concept Memory Disorders
Concept Histiocytosis
Concept Vestibular Diseases
Concept Cardiomyopathies
Concept Nerve Degeneration
Concept Nystagmus, Pathologic
Concept Oxidative Stress
Concept Recovery of Function
Concept Multiple System Atrophy
Concept Gait Ataxia
Concept Channelopathies
Concept Parkinson Disease
Concept Fatal Outcome
Concept Gait Disorders, Neurologic
Concept Genetic Diseases, Inborn
Concept Spinocerebellar Ataxias
Concept Posterior Leukoencephalopathy Syndrome
Concept Sleep Wake Disorders
Concept Spinocerebellar Degenerations
Concept Supranuclear Palsy, Progressive
Concept Thalamic Diseases
Concept Urinary Bladder, Overactive
Concept Myasthenic Syndromes, Congenital
Concept Neurodegenerative Diseases
Concept DNA Repeat Expansion
Concept Urinary Incontinence, Urge
Concept Autonomic Nervous System Diseases
Concept Seizures, Febrile
Concept Disease Models, Animal
Concept Friedreich Ataxia
Concept Hydrocephalus
Concept Muscle Spasticity
Concept Neoplasms
Concept Scoliosis
Concept Urinary Incontinence, Stress
Concept Ocular Motility Disorders
Concept Age of Onset
Concept Machado-Joseph Disease
Concept Muscle Weakness
Concept Gait Apraxia
Concept Neurotoxicity Syndromes
Concept Parkinsonian Disorders
Academic Article Clinical evaluation of eye movements in spinocerebellar ataxias: a prospective multicenter study.
Academic Article (1)H MR spectroscopy in Friedreich's ataxia and ataxia with oculomotor apraxia type 2.
Academic Article Hypersomnia, bithalamic lesions, and altered sleep architecture in Kearns-Sayre syndrome.
Academic Article Measuring Friedreich ataxia: Interrater reliability of a neurologic rating scale.
Academic Article Transcranial Doppler ultrasound: present status.
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 Impaired eye movements in presymptomatic spinocerebellar ataxia type 6.
Academic Article Speech characteristics associated with three genotypes of ataxia.
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 Evaluation of parkinsonism and striatal dopamine transporter loss in patients with spinocerebellar ataxia type 6.
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 Impaired predictive motor timing in patients with cerebellar disorders.
Academic Article Physostigmine treatment of progressive supranuclear palsy.
Academic Article Memory impairment in patients with progressive supranuclear palsy.
Academic Article Dysphagia in spinocerebellar ataxias type 1, 2, 3 and 6.
Academic Article De Novo variants in EEF2 cause a neurodevelopmental disorder with benign external hydrocephalus.
Academic Article Gait Variability in Spinocerebellar Ataxia Assessed Using Wearable Inertial Sensors.
Concept Neurodevelopmental Disorders
Search Criteria
  • Neurogenetic
  • disorders