Clinicopath Conf, Charcot-Marie-Tooth Disease Type 2, with Aides Pupil and a Mutation in MPZ Gene
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Clinical and Genetic Abnormalities in Patients with Friedreich's Ataxia
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Neuroimaging Features of Biotinidase Deficiency
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Sturge-Weber Syndrome
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Fibromuscular Dysplasia and Its Neurologic Manifestations
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Wilson Disease
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Clinical Reasoning: A Case of Treatable Spastic Paraparesis
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GFAP Mutations, Age at Onset, and Clinical Subtypes in Alexander Disease
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New Aspects on Patients Affected by Dysferlin Deficient Muscular Dystrophy
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Aicardi-Gouti�res Syndrome
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A 23-Year-Old Man With Seizures and Visual Deficit
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Amyotrophic Lateral Sclerosis
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Sensorineural Hearing Loss in Children
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The Hereditary Spastic Paraplegias
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Clinicopath Conf, Neuronal Ceroid Lipofuscinosis, Late-Onset Infantile Subtype
NEJM 347:672-680, Case 27-2002, 2002
The Clinical Spectrum of Familial Hemiplegic Migraine Associated with Mutations in a Neuronal Calcium Channel
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Clinical and Genetic Aspects of Distal Myopathies
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Hereditary Spastic Paraparesis: A Review of New Developments
JNNP 69:150-160, McDermott,C.J. et al, 2000
Prader-Willi and Angelman Syndromes
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X Linked Adrenoleukodystrophy:Clinical Presentation, Diagnosis, and Therapy
JNNP 63:4-14, vanGeel,B.M.,et al, 1997
Presymptomatic Diagnosis of Neurofibromatosis 2 Using Linked Genetic Markers, Neuroimging, and Ocular Examinations
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Gene Analysis of L1 Neural Cell Adhesion Molecule in Prenatal Diagnosis of Hydrocephalus
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Hereditary Hemorrhagic Telangiectasia
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Leber's Hereditary Optic Neuropathy as a Cause of Severe Visual Loss in Childhood
Pediatrics 91:988-989, Moorman,C.M.&Elston,J.S., 1993
Wilson Disease
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Clinical and Electrodignostic Features of X-Linked Recessive Bulbospinal Neuronopathy
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Anderson-Fabry Disease
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Neurofibromatosis 2 (Bilateral Acoustic Neuro-fibromatosis)
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