Spinal Muscular Atrophy
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Absence Epilepsies With Widely Variable Onset are a Key Feature of Familial GLUT1 Deficiency
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Neurofibromatosis 2 (Bilateral Acoustic Neuro-fibromatosis)
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Molecular Diagnostic Yield of Exome Sequencing in Patients with Cerebral Palsy
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Spinocerebellar Ataxia Type 2: Clinicogenetic Aspects, Mechanistic Insights, and Management Approaches
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Genetic Aspects of Alzheimer Disease
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Progressive Myoclonic Epilepsies: A Review of Genetic and Therapeutic Aspects
Lancet Neurol 4:239-248, Shahwan, A., et al, 2005
Friedreich Ataxia
Arch Neurol 59:743-747, Lynch,D.R.,et al, 2002
Consequences of the Delayed Diagnosis of Ataxia-Telangiectasia
Pediatrics 102:98-100, Cabana,M.D.,et al, 1998
Charcot-Marie-Tooth Disease and Related Inherited Neuropathies
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Charcot-Marie-Tooth Neuropathies:From Clinical Description to Molecular Genetics
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Clinical Genetics in Neurological Disease
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Duplication of Part of Chromosome 17 is Commonly Associated with HMSN Type I (Charcot-Marie-Tooth Disease Type 1)
Ann Neurol 31:570-572, Hallam,P.J.,et al, 1992
De-Novo Mutation in Hereditary Motor and Sensory Neuropathy Type I
Lancet 339:1081-1082, Hoogendijk,J.E.,et al, 1992
Causal Heterogeneity in Isolated Lissencephaly
Neurol 42:1375-1388, Dobyns,W.B.,et al, 1992
Lisch Nodules in Neurofibromatosis Type I
NEJM 324:1264-1266, 1283-12851991., Lubs,M-L.E.,et al, 1991
Clinical and Electrodignostic Features of X-Linked Recessive Bulbospinal Neuronopathy
Neurol 41:823-828, Olney,R.K.,et al, 1991
Molecular Genetics of Duchenne and Becker Muscular Dystrophy
J Pediatr 117:1-15, Darras,B.T., 1990
Distinction of Becker from Limb-Girdle Muscular Dystrophy by Means of Dystrophin cDNA Probes
Lancet 1:466-468, Norman,A.,et al, 1989
Molecular Biology of Duchenne and Becker's Muscular Dystrophy:Clinical Applications
Ann Neurol 26:189-194, Gutmann,D.H.&Fischbeck,K.H., 1989
Genetic Markers for Neurofibromatosis
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