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Degenerative Diseases of the Nervous System, Friedreich Ataxia
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Decoding Cryptogenic Cardioembolism
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Malignant Hyperthermia, Update on Susceptibility Testing
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Clinical Profile of Stroke in 900 Patients with Hypertrophic Cardiomyopathy
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Hypertrophic Cardiomyopathy A Systematic Review
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Proximal Myotonic Myopathy, Clin Features of Disorder Similar to Myotonic Dystrophy
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Myotonic Dystrophy
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Fatal Familial Insomnia:Clinical and Pathologic Study of Five New Cases
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Thyrotoxic Periodic Paralysis in the US, Report of 7 Cases & Review of the Literature
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Acute Intermittent Porphyria
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Hereditary Long Q-T Syndrome Presenting as Epilepsy:Electroencephalography Laboratory Diagnosis
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A Mitochondrial DNA Mutation as a Cause of Leber's Hereditary Optic Neuropathy
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Refsum Disease
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Mendelian Etiologies of Stroke
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Central Core Disease, Clinical Features in 13 Patients
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The Malignant Hyperthermia Syndrome
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Emery-Dreifuss Muscular Dystrophy
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Malignant Hyperthermia & Central Core Disease in a Child with Congenital Dislocating Hips
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Abnormal Iris Vasculature in Myotonic Dystrophy
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Obstructive Sleep Apnea in Family Members
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An unusual Cause of Apparent Epilepsy:ECG & EEG Findings in a Case of Jervell Lange-Neilson Syndrome
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Cardiac Features of Unusual X-linked Humeroperoneal Neuromuscular Disease
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A 24-Year-Old Man with Gait Impairment, Hearing Loss, and Recurrent Fever
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A 26-Year-Old Woman with Recurrent Pain, Weakness, and Atrophy in Bilateral Upper Limbs During Pregnancy and Puerperium
Neurol 100:631-637, Zeng,T.f.,et al, 2023
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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A 22-Year-Old Man with Progressive Bilateral Visual Loss
Neurol 94:625-630, Yang, S.L.,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
Clinical Reasoning: A Teenager with Left Arm Weakness
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Clinicopathologic Conference, Vascular Malformations in Liver, Stomach, Esophagus, and Lungs that are Consistent with Hereditary Hemorrhagic Telangiectasia, Complicated
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A 45-year-old man with Weakness and Myalgia after Orthopedic Surgery
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Early-Onset Stroke and Vasculopathy Associated with Mutations in ADA2
NEJM 370:911-920, Zhou, Q.,et al, 2014
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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Chediak-Higashi Syndrome: Pathognomonic Feature
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Clinical Reasoning: A Young Man with Reversible Paralysis, Cerebral White Matter Lesions, and Peripheral Neuropathy
Neurol 79: e70-e72, Zhong, L.,et al, 2012
Hereditary Hemorrhagic Telangiectasia (Osler-Weber-Rendu Syndrome)
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Primary Episodic Ataxias:Diagnosis, Pathogenesis and Treatment
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Metabolic Disease and Stroke: MELAS
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The Clinical Spectrum of Familial Hemiplegic Migraine Associated with Mutations in a Neuronal Calcium Channel
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Ion Channel Diseases:Episodic Disorders of the Nervous System
Semin Neurol 19:363-369, Ptacek,L.J., 1999
Reduced Penetrance,Variable Expressivity,and Genetic Heterogeneity of Familial Atrial Septal Defects
Circulation 97:2043-2048, Benson,D.W.,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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Familial Atrioventricular Septal Defect:Possible Genetic Mechanisms
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A Synd of Autosomal Dominant Alternating Hemiplegia:Mimicking Intractable Epilepsy; Chromosomal Studies; Physiol Investig
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