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Update on Blepharospasm: Report from the BEBRF International Workshop
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Essential Tremor:Clinical Correlates in 350 Patients
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A Genetic Study of Idiopathic Focal Dystonias
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A Familial Syndrome of Dystonia, Blepharospasm, and Pigmentary Retinopathy
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Familial Paroxysmal Dystonic Choreoathetosis & its Differentiation From Related Syndromes
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A Young Woman With Hypertonia, Severe Scoliosis, and Encephalopathy
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A 24-Year-Old Man with Gait Impairment, Hearing Loss, and Recurrent Fever
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A 50-Year-Old Man with Ataxia, Dystonia, and Abnormal Ocular Movements
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Clinicopathologic Conference, Facioscapulohumeral Muscular Dystrophy
NEJM 388:2379-2387, Case 19-2023, 2023
Paroxysmal Exercise-Induced Dyskinesias Due to Pyruvate Dehydrogenase Deficiency
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Movement Disorders in Patients with Genetic Developmental and Epileptic Encephalopathies
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Multiple Cranial Nerve Gadolinium Enhancement in Norrie Disease
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A 6-Year-Old Girl with Progressive Toe Walking
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Myotonic Dystrophy: Etiology, Clinical Features, and Diagnosis
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Neurodegeneration with Brain Iron Accumulation
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Basa Ganglia Calcifications (Fahrs Syndrome): Related Conditions and Clinical Features
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Clinicopathologic Conference, Biotinthiamine-Responsive Basal Ganglia Disease Due to Mutation SLC19A3
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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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The Limbic-Girdle Muscular Dystrophies
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Clinical Reasoning: A 13-year-old Boy Presenting with Dystonia,Myoclonus,and Anxiety
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Hereditary Hemorrhagic Telangiectasia (Osler-Weber-Rendu Syndrome)
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Glucose Transporter-1 Deficiency Syndrome: The Expanding Clinical and Genetic Spectrum of a Treatable Disorder
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Huntingtons Disease
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Neurofibromatosis Type 2
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The Expanding Phenotype of GLUT1-Deficiency Syndrome
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Aicardi-Gouti�res Syndrome
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Primary Episodic Ataxias:Diagnosis, Pathogenesis and Treatment
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Clinicopath Conf, Dopamine-Responsive-Dystonia Caused by a Mutation in the GCH1 Gene
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Infantile Bilateral Striatal Necrosis Maps to Chromosome 19q
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Genetic, Clinical, and Radiographic Delineation of Hallervorden-Spatz Syndrome
NEJM 348:33-40, Hayflick,S.J.,et al, 2003
Mental Retardation
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Niemann-Pick Disease Type C: Two Cases and an Update
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Rapid-Onset Dystonia-Parkinsonism:Linkage to Chromosome 19q13
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Distal Myopathies:Clinical and Molecular Diagnosis and Classification
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Leigh Syndrome:Clinical Features and Biochemical DNA Abnormalities
Ann Neurol 39:343-351, Rahman,S.,et al, 1996
Niemann-Pick Disease Type C from Bench to Bedside
JAMA 276:561-564, Schiffmann,R., 1996
Clinicopath Conf
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Clinical Variability in Adult-Onset Acid Maltase Deficiency:Report of Affected Sibs and Review of Literature
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Psychosis as the Initial Manifestation of Adult-Onset Niemann-Pick Disease Type C
Neurol 45:1739-1743, Shulman,L.M.,et al, 1995
Clinical Significance of Fetal Choroid Plexus Cysts
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Myotonic Dystrophy
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GM1 Gangliosidosis in Adults:Clinical and Molecular Analysis of 16 Japanese Patients
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Wilson Disease
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A Synd of Autosomal Dominant Alternating Hemiplegia:Mimicking Intractable Epilepsy; Chromosomal Studies; Physiol Investig
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Dopa-Responsive Dystonia:Long-Term Treatment Response and Prognosis
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Ataxia-Telangiectasia:An Interdisciplinary Approach to Pathogenesis
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