Paroxysmal Exercise-Induced Dyskinesias Due to Pyruvate Dehydrogenase Deficiency
Neurol 101:46-49, deGusmao,C.M.,et al, 2023
Movement Disorders in Patients with Genetic Developmental and Epileptic Encephalopathies
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The Phenotypic Continuum of ATP1A3-Related Disorders
Neurol 99:e1511-e1526, Vezyroglou,A., et al, 2022
A Synd of Autosomal Dominant Alternating Hemiplegia:Mimicking Intractable Epilepsy; Chromosomal Studies; Physiol Investig
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Familial Paroxysmal Dystonic Choreoathetosis & its Differentiation From Related Syndromes
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Niemann-Pick Type C Disease
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A Toddler with Acute-Onset Hypotonia, Areflexia, and Ataxia
Neurol 104:e213593, Pence, K.L. &Clark, R.A., 2025
A 59-Year-Old Female Patient with Urinary Dysfunction and Lightheadedness
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Melas Syndrome
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A 24-Year-Old Man with Gait Impairment, Hearing Loss, and Recurrent Fever
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Slowly rogressive Cerebellar Ataxia in a 55-Year-Old Female Patient
JAMA Neurol 80:107-108, Bernaola,M.T.,et al, 2023
A 26-Year-Old Woman with Recurrent Pain, Weakness, and Atrophy in Bilateral Upper Limbs During Pregnancy and Puerperium
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Thyrotoxic Periodic Paralysis
UptoDate Jan, Gutmann, L. & Conwit, R., 2022
Myotonic Dystrophy: Etiology, Clinical Features, and Diagnosis
UptoDate 2022 Jan, Darras, B.T., 2022
A 22-Year-Old Man with Progressive Bilateral Visual Loss
Neurol 94:625-630, Yang, S.L.,et al, 2020
A 45-Year-Old Man with Progressive Insomia and Psychiatric and Motor Symptoms
Neurol 94:e1213-e1218, Lima, J.E.E.,et al, 2020
A 25-year-old Woman with Recurrent Episodes of Collapse and Loss of Consciousness
Neurol 94:994-999, Wildman, J.,et al, 2020
Acute Cortical Lesions in MELAS Syndrome: Anatomic Distribution, Symmetry, and Evolution
AJNR 41:167-173, Bhatia,K.D.,et al, 2020
Neurodegeneration with Brain Iron Accumulation
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Clinical Reasoning: A Teenager with Left Arm Weakness
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Making Sense of the Clinical Spectrum of Limb Girdle Muscular Dystrophies
Pract Neurol 18:201-210, Khadilkar,S.V.,et al, 2018
Clinicopathologic Conference, Vascular Malformations in Liver, Stomach, Esophagus, and Lungs that are Consistent with Hereditary Hemorrhagic Telangiectasia, Complicated
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A 13-year-old boy with Chronic Ataxia and Developmental Delay
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A 45-year-old man with Weakness and Myalgia after Orthopedic Surgery
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A Case of Ataxia, Seizure, and Choreoathetosis in a 34-year-old Woman
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Huntington Disease: Clinical Features and Diagnosis
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Choreoathetosis, Dystonia, and Myoclonus in 3 Siblings with Autosomal Recessive Spinocerebellar Ataxia Type 16
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Early-Onset Stroke and Vasculopathy Associated with Mutations in ADA2
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Red Papules on the Tongue of a Patient with Hemiparesis
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Inherited Metabolic Diseases of the Nervous System, Globoid Cell Leukodystrophy (Krabbe Disease, Galactocerebrosidase)
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Degenerative Diseases of the Nervous System, Friedreich Ataxia
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Chediak-Higashi Syndrome: Pathognomonic Feature
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Clinical Reasoning: A Young Man with Reversible Paralysis, Cerebral White Matter Lesions, and Peripheral Neuropathy
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Huntingtons Disease
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Decoding Cryptogenic Cardioembolism
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Primary Episodic Ataxias:Diagnosis, Pathogenesis and Treatment
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Metabolic Disease and Stroke: MELAS
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Malignant Hyperthermia, Update on Susceptibility Testing
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Infantile Bilateral Striatal Necrosis Maps to Chromosome 19q
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Familial Infantile Bilateral Striatal Necrosis
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Clinical Profile of Stroke in 900 Patients with Hypertrophic Cardiomyopathy
J Am Coll Cardiol 39:301-307, Maron,B.J.,et al, 2002
Hypertrophic Cardiomyopathy A Systematic Review
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The Clinical Spectrum of Familial Hemiplegic Migraine Associated with Mutations in a Neuronal Calcium Channel
NEJM 345:17-24,57, Ducros,A.,et al, 2001
Niemann-Pick Disease Type C: Two Cases and an Update
Movement Disorders 15:1199-1203, Uc,E.Y.,et al, 2000
Ion Channel Diseases:Episodic Disorders of the Nervous System
Semin Neurol 19:363-369, Ptacek,L.J., 1999
Fluid Attenuation Inversion Recovery (FLAIR) Images of Dentatorubropalliodoluysian Atrophy:Case Report
JNNP 65:396-399, Yoshii,F.,et al, 1998
Ion Channels and Neurological Disease:DNA Based Diagnosis is Now Possible,and Ion Channels May be Important in Common Paroxysmal Disorders
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The Inherited Ataxias and the New Genetics
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A Gene for Hereditary Paroxysmal Cerebellar Ataxia Maps to Chromosome 19p
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