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Update on Blepharospasm: Report from the BEBRF International Workshop
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Facioscapulohumeral Dystrophy, in Myology, Basic & Clinical
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Leber Hereditary Optic Neuropathy with Longitudinal Spinal Cord Lesion Mimicking Spinal Cord Infarction
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Clinicopathologic Conference, Cerebellar Ataxia, Neuropathy and Vestibular Areflexia Syndrome
NEJM 385:165-175, Case 20-2021, 2021
A 22-Year-Old Man with Progressive Bilateral Visual Loss
Neurol 94:625-630, Yang, S.L.,et al, 2020
Pediatric Leigh Syndrome
Ann Neurol 88:218-232, Alves, C.A.P.F.,et al, 2020
Neurodegeneration with Brain Iron Accumulation
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Spinocerebellar Ataxia Type 2: Clinicogenetic Aspects, Mechanistic Insights, and Management Approaches
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A 44-Year-Old Man with Eye, Kidney, and Brain Dysfunction
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Inherited Metabolic Diseases of the Nervous System, Infantile Gaucher Disease
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Chediak-Higashi Syndrome: Pathognomonic Feature
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The Autosomal Recessive Cerebellar Ataxias
NEJM 366:636-646, Anheim,M.,et al, 2012
Aicardi-Gouti�res Syndrome: Neuroradiologic Findings and Follow-up
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Clinicopath Conf, Charcot-Marie-Tooth Disease Type 2, with Aides Pupil and a Mutation in MPZ Gene
NEJM 354:2584-2592, Case 18-2006, 2006
Dystonia
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Neurologic Features of Horizontal Gaze Palsy and Progressive Scoliosis with Mutations in ROBO3
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Genetic, Clinical, and Radiographic Delineation of Hallervorden-Spatz Syndrome
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Recessive Ataxia With Ocular Apraxia
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Familial Hemiplegic Migraine, Nystagmus and Cerebellar Atrophy
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Clinical, Neuropath & Genetic Studies of Large Spinocerebellar Ataxia Type 1 (SCA1) Kindred: (CAG) n Early Premonitory Signs & Symp
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Acquired Ocular Visual Impairment in Children, 1960-1989
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Cockayne Syndrome: Review of 140 Cases
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Acetazolamide-Responsive Vestibulocerebellar Syndrome:Clinical & Oculographic Features
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Ataxia-Telangiectasia:An Interdisciplinary Approach to Pathogenesis
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Clinicopath Conf
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Narcolspey
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A Familial Syndrome of Dystonia, Blepharospasm, and Pigmentary Retinopathy
Neurol 40:1359-1363, Coppeto,J.R.&Lessel,S., 1990
Joubert Syndrome:A Clinico-Radiological Study
Neuroradiology 31:502-506, Kendall,B.,et al, 1990
Gerstmann-Straussler-Scheinker Disease, I, Extending the Clinical Spectrum
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Infantile Bilateral Striatal Necrosis, Clinicopathological Classification
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Neuro-Ophthalmologic Findings in Vestibulocerebellar Ataxia
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Biotinidase Deficiency:Initial Clinical Features & Rapid Diagnosis
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Chediak-Higashi Syndrome
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Ataxia-Telangiectasia:A Multisystem Hereditary Disease with Immunodeficiency
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Narcolepsy-Cataplexy
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An Autosomal Dominant Syndrome of Hemiplegic Migraine, Nystagmus, & Tremor
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Congenital Ocular Motor Apraxia
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Juvenile Diabetes Mellitus & Optic Atrophy
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