Spinal Muscular Atrophy
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The Tuberous Sclerosis Complex
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Myotonic Dystrophy
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Clinical Spectrum of Hereditary Hemorrhagic Telangiectasia (Osler-Wever-Rendu Disease)
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Recurrent Cerebral Ischemia During Pregnancies
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Ehlers-Danlos Syndromes
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A 10-year-old boy with Bilateral Vision Loss
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Neurological Management of Von Hippel-Lindau Disease
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A 52-year-old Woman with Progressive Proximal Weakness
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Diagnosis and Therapy in Neuromuscular Disorders: Diagnosis and New Treatments in Mitochondrial Diseases
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Autism
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Clinicopath Conf, Dopamine-Responsive-Dystonia Caused by a Mutation in the GCH1 Gene
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Adrenoleukodystrophy
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Progressive Myoclonic Epilepsies: A Review of Genetic and Therapeutic Aspects
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Friedreich Ataxia
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A Practical Approach to the Diagnosis and Management of MELAS: Case Report and Review
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The Muscular Dystrophies
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Analysis of Prenatal and Gestational Care Given to Women with Epilepsy
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Practice Parameter,Management Issues for Women with Epilepsy (Summary Statement)
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X Linked Adrenoleukodystrophy:Clinical Presentation, Diagnosis, and Therapy
JNNP 63:4-14, vanGeel,B.M.,et al, 1997
Niemann-Pick Disease Type C from Bench to Bedside
JAMA 276:561-564, Schiffmann,R., 1996
Clinical and Genetic Abnormalities in Patients with Friedreich's Ataxia
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Charcot-Marie-Tooth Disease and Related Inherited Neuropathies
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Cerebrotendinous Xanthomatosis:Molecular Diagnosis Enables Presymptomatic Detection of a Treatable Disease
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The First Decade of Molecular Genetics in Neurology:Changing Clinical Thought and Practice
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A Clinical Study of Noonan Syndrome
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Molecular Genetics of Duchenne and Becker Muscular Dystrophy
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Von Hippel-Lindau Disease Affecting 43 Members of a Single Kindred
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Neurofibromatosis 2 (Bilateral Acoustic Neuro-fibromatosis)
NEJM 318:684-688, Martuza,R.L.&Eldridge,R., 1988
Anderson-Fabray Disease, A Commonly Missed Diagnosis
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