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The Tuberous Sclerosis Complex
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National Institutes of Health Consensus Conference: Tuberous Sclerosis Complex
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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
Clinicopathologic Conference, Facioscapulohumeral Muscular Dystrophy
NEJM 388:2379-2387, Case 19-2023, 2023
Myotonic Dystrophy: Etiology, Clinical Features, and Diagnosis
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Spinal Muscular Atrophy
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Genetics of Cluster Headache Takes a Leap
Ann Neurol 90:191-192, Palotie, A., 2021
Oculodentodigital Dysplasia: A Hypomyelinating Leukodystrophy with a Characteristic MRI Pattern of Brain Stem Involvement
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A 58-year-old Man with Hand Tremor and Episodes of Neck Pain
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Clinical and Neuroimaging Features in Gorlin-Goltz Syndrome
Neurol 88:e52-e54, da paz Oliveira, G.,et al, 2017
A Neonate with Micrognathia and Hypotonia
Neurol 86:e80-e84, Vawter-Lee, M.M.,et al, 2016
The Syndrome of Cutaneous Photosensitivity, Growth Failure, and Basal Ganglia Calcification
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Clinicopathologic Conference, Homocystinuria caused by Cystathionine B-Synthase Deficiency
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Molybdenum Cofactor Deficiency
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Sturge-Weber Syndrome
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The Limbic-Girdle Muscular Dystrophies
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Sturge-Weber Syndrome
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Update on Blepharospasm: Report from the BEBRF International Workshop
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Angelman Syndrome Revisited
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Dystonia
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Insights Into the Diagnosis and Treatment of Lysosomal Storage Diseases
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Distal Myopathies:Clinical and Molecular Diagnosis and Classification
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Consequences of the Delayed Diagnosis of Ataxia-Telangiectasia
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Prader-Willi and Angelman Syndromes
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Stroke in Williams Syndrome
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Clinical and Genetic Abnormalities in Patients with Friedreich's Ataxia
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Familial Occurrence of Cluster Headache
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Clinical Variability in Adult-Onset Acid Maltase Deficiency:Report of Affected Sibs and Review of Literature
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GM1 Gangliosidosis in Adults:Clinical and Molecular Analysis of 16 Japanese Patients
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Girls with Fragile X Syndrome:Physical and Neurocognitive Status and Outcome
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Wilson Disease
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Wilson's Disease:Current Status
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Familial Cluster Headache:Occurrence in Three Generations
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Angelman Syndrome: Clinical Profile
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Cockayne Syndrome: Review of 140 Cases
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Essential Tremor:Clinical Correlates in 350 Patients
Neurol 41:234-238, Lou,J.&Jankovic,J., 1991
A Genetic Study of Idiopathic Focal Dystonias
Ann Neurol 29:320-324, Waddy,H.M.,et al, 1991
The First Report of Cluster Headache in Identical Twins
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MR of Progressive Neurodegenerative Change in Treated Menkes'Kinky Hair Disease
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Fucosidosis Revisited:A Review of 77 Patients
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Hyperostosis Cranialis Interna
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A Familial Syndrome of Dystonia, Blepharospasm, and Pigmentary Retinopathy
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Peripheral Neuropathy in Amyotrophic Chorea-Acanthocytosis
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Emery-Dreifuss Muscular Dystrophy:Disease Spectrum and Differential Diagnosis
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Central Core Disease, Clinical Features in 13 Patients
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