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A Synd of Autosomal Dominant Alternating Hemiplegia:Mimicking Intractable Epilepsy; Chromosomal Studies; Physiol Investig
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Paroxysmal Cerebellar Ataxia
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Familial Periodic Ataxia
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Hereditary Paroxysmal Ataxia:Response to Acetazolamide
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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
Thyrotoxic Periodic Paralysis
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A 25-year-old Woman with Recurrent Episodes of Collapse and Loss of Consciousness
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An Unusual Fundus Finding in a Teenage Girl
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Inherited Metabolic Diseases of the Nervous System, Infantile Niemann-Pick Disease
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Degenerative Diseases of the Nervous System, Machado-Joseph-Azorean Disease
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Clinical Reasoning: A Young Man with Reversible Paralysis, Cerebral White Matter Lesions, and Peripheral Neuropathy
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Metabolic Disease and Stroke: MELAS
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Neurologic Features of Horizontal Gaze Palsy and Progressive Scoliosis with Mutations in ROBO3
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Infantile Bilateral Striatal Necrosis Maps to Chromosome 19q
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The Clinical Spectrum of Familial Hemiplegic Migraine Associated with Mutations in a Neuronal Calcium Channel
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Niemann-Pick Disease Type C: Two Cases and an Update
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Ion Channel Diseases:Episodic Disorders of the Nervous System
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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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Acute Intermittent Porphyria:Clinicopathologic Correlation
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Spinocerebellar Ataxia Type 6, Molecular & Clin Features of 35 Japanese Pts (1 Homozygous for CAG Repeat Expan)
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Familial Hemiplegic Migraine, Nystagmus and Cerebellar Atrophy
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Wolfram Syndrome:Hereditary Diabetes Mellitus with Brainstem and Optic Atrophy
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Leigh Syndrome:Clinical Features and Biochemical DNA Abnormalities
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The Inherited Ataxias and the New Genetics
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Central Nervous System Involvement in Von Hippel-Lindau Disease
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Nystagmus of Pelizaeus-Merzbacher Disease
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Acetazolamide-Responsive Vestibulocerebellar Syndrome:Clinical & Oculographic Features
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Acute Intermittent Porphyria
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Infantile CNS Spongy Degeneration-14 Cases:Clinical Update
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Joubert Syndrome:A Clinico-Radiological Study
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Friedreich Ataxia
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Transient Tic Disorder and the Spectrum of Tourette's Syndrome
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Cervicomedullary Compression in Young Patients with Achondroplasia:Value of Neurologic & Respiratory Eval
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Magnetic Resonance Imaging in Pelizaeus-Merzbacher Disease
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Autosomal Dominant Osteosclerosis Associated with Familial Spinal Canal Stenosis
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Leber's Congenital Amaurosis
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Clin. Path. Conference
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Chediak-Higashi Syndrome
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Primary Position Vertical Nystagmus & Cerebellar Ataxia
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An Autosomal Dominant Syndrome of Hemiplegic Migraine, Nystagmus, & Tremor
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Amelioration Of Neurologic Abnormalities After"Enzyme Replacement"In Adenosine Deaminase Deficiency
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Congenital Ocular Motor Apraxia
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Familial Lumbar Spinal Stenosis with Acute Disc Herniation, Case Reports of Four Brothers
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Dominant Spinopontine Atrophy
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Neurological Manifestations of Fabry Disease in Female Carriers
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Azorean Disease of the Nervous System
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