A 15-year-old Boy with Bilateral Wrist Pain in the Setting of Weight Loss
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Neurofibromatosis Type 2
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Phenotypic Heterogen in Hered Neurop with Liability to Press Palsies Assoc with Chromosome 17p11. 2-12 Delet
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Ataxia-Telangiectasia:An Interdisciplinary Approach to Pathogenesis
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Ipsilateral Stroke in a Patient with Horizontal Gaze Palsy with Progressive Scoliosis and a Subcortical Infarct
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Clinical Spectrum of Ataxia-Telangiectasia in Adulthood
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Neurologic Manifestations of von Hippel-Lindau Disease
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Neurologic Features of Horizontal Gaze Palsy and Progressive Scoliosis with Mutations in ROBO3
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Infantile Bilateral Striatal Necrosis Maps to Chromosome 19q
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Clinicopath Conf, Neuronal Ceroid Lipofuscinosis, Late-Onset Infantile Subtype
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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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Charcot-Marie-Tooth Disease and Related Inherited Neuropathies
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Clin Electrophy & Molec Correl in 13 Families with Hered Neurop with Liabil to Press Palsies & Chromosome 17p11. 2 Deletion
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DNA Analysis in Finnish Patients with Hereditary Neuropathy with Liability to Pressure Palsies (HNPP)
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Cockayne Syndrome: Review of 140 Cases
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Fucosidosis Revisited:A Review of 77 Patients
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Neurofibromatosis 2 (Bilateral Acoustic Neuro-fibromatosis)
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Colpocephaly:Clinical, Radiologic, & Pathogenetic Aspects
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A Middle-aged Woman with Severe Scoliosis and Encephalopathy
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Huntington Disease: Clinical Features and Diagnosis
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CNS Involvement at the Onset of Primary Hemophagocytic Lymphohistiocytosis
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Recent Insights into Cerebral Cavernous Malformations: The Molecular Genetics of CCM
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Phenotypic Spectrum Associated with Mutations of the Mitochondrial Polymerase y Gene
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Genetic, Clinical, and Radiographic Delineation of Hallervorden-Spatz Syndrome
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Clinical Spectrum of Succinic Semialdehyde Dehydrogenase Deficiency
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New Developments in the Neurobiology of the Tuberous Sclerosis Complex
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Distal Myopathies:Clinical and Molecular Diagnosis and Classification
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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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X-Linked Malformation of Neuronal Migration
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A Gene for Hereditary Paroxysmal Cerebellar Ataxia Maps to Chromosome 19p
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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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New Phenotype of the Cerebral Autosomal Dominant Arteriopathy Mapped to Chromosome 19:Migraine as the Prominent Clinical Feature
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Clinical Genetics in Neurological Disease
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Charcot-Marie-Tooth Disease Type 1A:Association with a Spontaneous Point Mutation in the PMP22 Gene
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Inherited Primary Peripheral Neuropathies
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X-Chromosome Effects on Female Brain:A Magnetic Resonance Imaging Study of Turner's Syndrome
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New Research in Tuberous Sclerosis, Probably More Common with More Adult Complications
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Duplication of Part of Chromosome 17 is Commonly Associated with HMSN Type I (Charcot-Marie-Tooth Disease Type 1)
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De-Novo Mutation in Hereditary Motor and Sensory Neuropathy Type I
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Causal Heterogeneity in Isolated Lissencephaly
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