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Neuroblastoma -- from Genetic Profiles to Clinical Challenge
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Distal Myopathies:Clinical and Molecular Diagnosis and Classification
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Facial Nerve is Liable to Pressure Palsy
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Creutzfeldt-Jakob Disease in a Young Woman
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Clinical and Genetic Abnormalities in Patients with Friedreich's Ataxia
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Autosomal Dominant Migraine with MRI White-Matter Abnormalities Mapping to the CADASIL Locus
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Familial Hemiplegic Migraine and Autosomal Dominant Arteriopathy with Leukoencephalopathy (CADASIL)
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Clinical Spectrum of CADASIL:A Study of 7 Families
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Progress in the Genetics of Cerebrovascular Disease Inherited Subcortical Arteriopathies
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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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A 50-Year-Old Man with Ataxia, Dystonia, and Abnormal Ocular Movements
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Spinal Muscular Atrophy A Timely Review
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Ipsilateral Stroke in a Patient with Horizontal Gaze Palsy with Progressive Scoliosis and a Subcortical Infarct
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Neurofibromatosis Type 2
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Phenotypic Spectrum Associated with Mutations of the Mitochondrial Polymerase y Gene
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Neurologic Features of Horizontal Gaze Palsy and Progressive Scoliosis with Mutations in ROBO3
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Clinical Spectrum of Succinic Semialdehyde Dehydrogenase Deficiency
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The Hereditary Spastic Paraplegias
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Clinicopath Conf, Neuronal Ceroid Lipofuscinosis, Late-Onset Infantile Subtype
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New Developments in the Neurobiology of the Tuberous Sclerosis Complex
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Hereditary Frontotemporal Dementia is Linked to Chromosome 17q21-q22:Genetic & Clinicopath Study of 3 Dutch Families
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The Epilepsy of Trisomy 9p
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Charcot-Marie-Tooth Disease and Related Inherited Neuropathies
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Natural History in Proximal Spinal Muscular Atrophy
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Phenotype of Chromosome 14-Linked Familial Alzheimer's Disease in a Large Kindred
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Genetics and Physiology of the Myotonic Muscle Disorders
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New Research in Tuberous Sclerosis, Probably More Common with More Adult Complications
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Cockayne Syndrome: Review of 140 Cases
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Ataxia-Telangiectasia:An Interdisciplinary Approach to Pathogenesis
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Brain Tumors
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Fucosidosis Revisited:A Review of 77 Patients
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Physical Features of Prader-Willi Syndrome in Neonates
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Neurofibromatosis 2 (Bilateral Acoustic Neuro-fibromatosis)
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Neurofibromatosis 2:Clinical & DNA Linkage Studies of a Large Kindred
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The Autosomal Dominant Form of"Pure"Familial Spastic Paraplegia:Clinical Findings & Linkage Analysis of a Pedigree
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Neurological Findings in Patients with the Fragile-X Syndrome
JNNP 48:150-153, Finelli,P.F.,et al, 1985
Helper & Suppressor T-Lymphocyte Leukemia In Ataxia Telangiectasia
NEJM 300:700-704, Saxon,A.,et al, 1979
Studies in Aging of the Brain:IV. Familial Alzheimer Dis. :Relat. to Transmiss. Demetia, Aneuploidy, & Microtubular Defects
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Agenesis of the Corpus Callosum:A Study of the Frequency of Associated Malformations
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Ataxia Telangiectasia
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Ataxia-Telangiectasia-Clonal Growth of Translocation Lymphocytes
NEJM 289:286, Hecht,F.,et al, 1973
The Cornelia de Lange Syndrome
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