The Expansion of the CAG Repeat in Ataxin-2 is a Frequent Cause of Autosomal Dominant Spinocerebellar Ataxia
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Ataxia-Telangiectasia:An Interdisciplinary Approach to Pathogenesis
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Neurofibromatosis 2 (Bilateral Acoustic Neuro-fibromatosis)
NEJM 318:684-688, Martuza,R.L.&Eldridge,R., 1988
Neurodegeneration with Brain Iron Accumulation
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CNS Involvement at the Onset of Primary Hemophagocytic Lymphohistiocytosis
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Spinal Muscular Atrophy A Timely Review
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Glucose Transporter-1 Deficiency Syndrome: The Expanding Clinical and Genetic Spectrum of a Treatable Disorder
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Genomewide Association Studies of Stroke
NEJM 360:1718-1728, Ikram,M.A.,et al, 2009
Neurofibromatosis Type 2
Lancet 373:1974-1986, Astagiri,A.R.,et al, 2009
Practice Parameter: Evaluation of the Child with Microcephaly (An Evidence-Based Review): Report of the Quality Standards Subcommittee of the American Academy of Neurology and the Practice Committee of the Child Neurology Society
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The Expanding Phenotype of GLUT1-Deficiency Syndrome
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Clinical Spectrum of Mutations in SCN1A Gene: Severe Myoclonic Epilepsy in Infancy and Related Epilepsies
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Genetic, Clinical, and Radiographic Delineation of Hallervorden-Spatz Syndrome
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Clinicopath Conf, Neuronal Ceroid Lipofuscinosis, Late-Onset Infantile Subtype
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Linkage of Familial Amyotrophic Lateral Sclerosis with Frontotemporal Dementia to Chromosome 9q21-q22
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A Locus for Febrile Seizures (FEB3) Maps to Chromosome 2q23-24
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Hereditary Frontotemporal Dementia is Linked to Chromosome 17q21-q22:Genetic & Clinicopath Study of 3 Dutch Families
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From Enigmatic to Problematic:The New Molecular Genetics of Childhood Spinal Muscular Atrophy
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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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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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Miller-Dieker Syndrome:Detection of a Cryptic Chromosome Translocation Using in Situ Hybridization in a Family
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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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Localization of Idiopathic Generalized Epilepsy on Chromosome 6p in Families of Juvenile Myoclonic epilepsy patients
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Mapping of Acute (Type 1) Spinal Muscular Atrophy to Chromosome 5q12-q14
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Spinal Muscular Atrophies
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Phenotypic Heterogeneity of Spinal Muscular Atrophy Mapping to Chromosome 5q11. 2-12. 3 (SMA5q)
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Neurofibromatosis 2:Clinical & DNA Linkage Studies of a Large Kindred
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The Molecular Genetic Revolution, Its Impact on Clinical Neurology
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Hereditary Motor & Sensory Neuropathy, X-Linked:A Half Century Follow-Up
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Helper & Suppressor T-Lymphocyte Leukemia In Ataxia Telangiectasia
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Studies in Aging of the Brain:IV. Familial Alzheimer Dis. :Relat. to Transmiss. Demetia, Aneuploidy, & Microtubular Defects
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Ataxia Telangiectasia
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Ataxia-Telangiectasia-Clonal Growth of Translocation Lymphocytes
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