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Gomez, Christopher M.

One or more keywords matched the following properties of Gomez, Christopher M.

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	Actins
Concept	Action Potentials
Concept	Dependovirus
Concept	Age Factors
Concept	Attention
Concept	Acetylcholine
Concept	Acetylcholinesterase
Concept	Adaptation, Physiological
Concept	Algorithms
Concept	Boron Compounds
Concept	Alleles
Concept	Amino Acid Sequence
Concept	Cell Line, Transformed
Concept	Cerebral Cortex
Concept	Animals, Newborn
Concept	Calpain
Concept	Chlorzoxazone
Concept	Antioxidants
Concept	Antibodies, Monoclonal
Concept	Concept Formation
Concept	Creatine
Concept	B-Lymphocytes
Concept	Base Sequence
Concept	Cell Nucleus
Concept	Basal Ganglia
Concept	Bayes Theorem
Concept	DNA Damage
Concept	Basal Ganglia Diseases
Concept	Brain Diseases, Metabolic
Concept	Encephalomyelitis, Autoimmune, Experimental
Concept	Cerebrovascular Disorders
Concept	Brain Stem
Concept	Carbachol
Concept	Clone Cells
Concept	Complement System Proteins
Concept	Cerebellar Ataxia
Concept	Cerebellum
Concept	Cholinesterases
Concept	Cerebellar Diseases
Concept	Chromosomes, Human, Pair 13
Concept	Codon
Concept	gamma-Aminobutyric Acid
Concept	Hexosaminidases
Concept	Huntington Disease
Concept	Cysteine
Concept	DNA, Mitochondrial
Concept	Cuba
Concept	Depth Perception
Concept	Injections, Intramuscular
Concept	Curare
Concept	Electrophysiology
Concept	Hybridomas
Concept	Immunoglobulin A
Concept	Chromosomes, Human, Pair 19
Concept	Exons
Concept	Evoked Potentials, Visual
Concept	Corpus Striatum
Concept	Cross-Sectional Studies
Concept	Drosophila melanogaster
Concept	Diseases in Twins
Concept	Fluoxetine
Concept	Mercuric Chloride
Concept	Frontal Lobe
Concept	Myasthenia Gravis
Concept	Genes, Dominant
Concept	G(M2) Ganglioside
Concept	Gangliosidoses
Concept	Genes
Concept	Glial Fibrillary Acidic Protein
Concept	Genes, Recessive
Concept	Electromyography
Concept	Dysarthria
Concept	Herpesvirus 4, Human
Concept	Feedback
Concept	Flow Cytometry
Concept	Fluorescent Antibody Technique
Concept	Gait
Concept	Kearns-Sayre Syndrome
Concept	Genetics, Medical
Concept	Metalloendopeptidases
Concept	Functional Laterality
Concept	Leukocytes
Concept	Hydroxymercuribenzoates
Concept	Exercise Test
Concept	Immunohistochemistry
Concept	Ophthalmoplegia
Concept	Molecular Sequence Data
Concept	Heat-Shock Proteins
Concept	HeLa Cells
Concept	Neuromuscular Junction
Concept	Neostigmine
Concept	Synaptic Transmission
Concept	San Francisco
Concept	Femur
Concept	Physostigmine
Concept	Gangliosides
Concept	Histone Deacetylases
Concept	Hybrid Cells
Concept	Image Processing, Computer-Assisted
Concept	Receptors, Cell Surface
Concept	Repressor Proteins
Concept	Risk Factors
Concept	Spasms, Infantile
Concept	Cohort Studies
Concept	Rats, Inbred Lew
Concept	Receptors, Cholinergic
Concept	Japan
Concept	Retinitis Pigmentosa
Concept	Synaptic Membranes
Concept	Disorders of Excessive Somnolence
Concept	Immunization
Concept	Incidence
Concept	Transcription, Genetic
Concept	Protein Biosynthesis
Concept	Synapses
Concept	Syndrome
Concept	Tunisia
Concept	Ubiquinone
Concept	Organelles
Concept	Oculomotor Nerve Diseases
Concept	Trinucleotide Repeat Expansion
Concept	Excitatory Postsynaptic Potentials
Concept	Caspases
Concept	Oligodeoxyribonucleotides, Antisense
Concept	Transcription Initiation Site
Concept	Inflammatory Bowel Diseases
Concept	Prevalence
Concept	PC12 Cells
Concept	Observer Variation
Concept	Ion Channel Gating
Concept	Mitochondria
Concept	Motor Endplate
Concept	Vestibular Diseases
Concept	Gene Expression
Concept	Comorbidity
Concept	Case-Control Studies
Concept	Walking
Concept	tau Proteins
Concept	Cardiomyopathies
Concept	Tomography, Optical Coherence
Concept	Nystagmus, Pathologic
Concept	Neurites
Concept	Receptors, Atrial Natriuretic Factor
Concept	Patch-Clamp Techniques
Concept	Disease Progression
Concept	Founder Effect
Concept	Inhibitor of Apoptosis Proteins
Concept	Transgenes
Concept	Multiple System Atrophy
Concept	Caspase 3
Concept	Caspase 7
Concept	Parkinson Disease
Concept	Fatal Outcome
Concept	Green Fluorescent Proteins
Concept	Semaphorin-3A
Concept	Genomic Imprinting
Concept	Trinucleotide Repeats
Concept	Condoms, Female
Concept	Amino Acid Motifs
Concept	Evidence-Based Medicine
Concept	Spinocerebellar Ataxias
Concept	Isoprostanes
Concept	Purkinje Cells
Concept	Receptors, Nicotinic
Concept	Inositol 1,4,5-Trisphosphate Receptors
Concept	Health Status Disparities
Concept	Sarcoplasmic Reticulum
Concept	Posterior Leukoencephalopathy Syndrome
Concept	Spinocerebellar Degenerations
Concept	Supranuclear Palsy, Progressive
Concept	HEK293 Cells
Concept	Clinical Coding
Concept	T-Lymphocytes, Cytotoxic
Concept	Blotting, Western
Concept	HSP40 Heat-Shock Proteins
Concept	Large-Conductance Calcium-Activated Potassium Channel alpha Subunits
Concept	Thalamic Diseases
Concept	Mice, 129 Strain
Concept	Post-Synaptic Density
Concept	Caregivers
Concept	Turkey
Concept	Contrast Sensitivity
Concept	Receptor, ErbB-2
Concept	DNA Methylation
Concept	Botulinum Toxins, Type A
Concept	Muscarinic Antagonists
Concept	Cell Lineage
Concept	DNA Repeat Expansion
Concept	Cell Line, Tumor
Concept	Calcium
Concept	Cell Line
Concept	Cells, Cultured
Concept	Cerebral Arteries
Concept	Chickens
Concept	Cholinesterase Inhibitors
Concept	Clinical Trials as Topic
Concept	Disease Models, Animal
Concept	Follow-Up Studies
Concept	Friedreich Ataxia
Concept	Genetic Testing
Concept	Health Status
Concept	Hemagglutination Tests
Concept	Hydrocephalus
Concept	Longitudinal Studies
Concept	Membrane Potentials
Concept	Prospective Studies
Concept	Protons
Concept	Receptors, Antigen, T-Cell
Concept	Retrospective Studies
Concept	Speech
Concept	T-Lymphocytes
Concept	Urinary Incontinence, Stress
Concept	Ocular Motility Disorders
Concept	Age of Onset
Concept	Presynaptic Terminals
Concept	Machado-Joseph Disease
Concept	DNA Primers
Concept	Electroporation
Concept	Genetic Predisposition to Disease
Concept	Parkinsonian Disorders
Concept	Cyclin-Dependent Kinase 5
Concept	Caspase 9
Concept	Genetic Loci
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	Monoclonal hybridoma anti-acetylcholine receptor antibodies: antibody specificity and effect of passive transfer.
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	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	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	Childhood-onset ataxia: testing for large CAG-repeats in SCA2 and SCA7.
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	(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	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	The conserved RING-H2 finger of ROC1 is required for ubiquitin ligation.
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	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	C-termini of P/Q-type Ca2+ channel alpha1A subunits translocate to nuclei and promote polyglutamine-mediated toxicity.
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	Revelations from a bicistronic calcium channel gene.
Academic Article	Restricted use of T cell receptor V genes in murine autoimmune encephalomyelitis raises possibilities for antibody therapy.
Academic Article	Speech characteristics associated with three genotypes of 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	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	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	Inositol-1,4,5-triphosphate receptors mediate activity-induced synaptic Ca2+ signals in muscle fibers and Ca2+ overload in slow-channel syndrome.
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	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	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	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	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	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	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	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	What is the predictive value of urodynamics to reproduce clinical findings of urinary frequency, urge urinary incontinence, and/or stress urinary incontinence?
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	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	Emergent life events in the delivery of a caregiver-mediated evidence-based intervention for children with autism spectrum disorder in publicly funded mental health services.
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	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	Prodromal Spinocerebellar Ataxia Type 2 Subjects Have Quantifiable Gait and Postural Sway Deficits.
Academic Article	Inertial Sensor Algorithms to Characterize Turning in Neurological Patients With Turn Hesitations.
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	De Novo variants in EEF2 cause a neurodevelopmental disorder with benign external hydrocephalus.
Academic Article	Survival disparities among African American women with invasive bladder cancer in Florida.
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	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	HER2 c-Terminal Fragments Are Expressed via Internal Translation of the HER2 mRNA.
Academic Article	Truncating Variants in RFC1 in Cerebellar Ataxia, Neuropathy, and Vestibular Areflexia Syndrome.
Concept	Internal Ribosome Entry Sites
Concept	Ataxin-3
Concept	Bilateral Vestibulopathy
Concept	ATPases Associated with Diverse Cellular Activities
Concept	Anaphase-Promoting Complex-Cyclosome
Concept	alpha7 Nicotinic Acetylcholine Receptor
Concept	White Matter
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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