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Ataxia-Telangiectasia:An Interdisciplinary Approach to Pathogenesis
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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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Clinical Spectrum of Ataxia-Telangiectasia in Adulthood
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New Developments in the Neurobiology of the Tuberous Sclerosis Complex
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Facial Nerve is Liable to Pressure Palsy
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Hereditary Frontotemporal Dementia is Linked to Chromosome 17q21-q22:Genetic & Clinicopath Study of 3 Dutch Families
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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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Clinical and Genetic Abnormalities in Patients with Friedreich's Ataxia
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Charcot-Marie-Tooth Disease and Related Inherited Neuropathies
Medicine 75:233-250, Murakami,T.,et al, 1996
Clin Electrophy & Molec Correl in 13 Families with Hered Neurop with Liabil to Press Palsies & Chromosome 17p11. 2 Deletion
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Clinical Genetics in Neurological Disease
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Phenotype of Chromosome 14-Linked Familial Alzheimer's Disease in a Large Kindred
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Chromosome 14-Encoded Alzheimer's Disease:Genetic and Clinicopathological Description
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DNA Analysis in Finnish Patients with Hereditary Neuropathy with Liability to Pressure Palsies (HNPP)
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Charcot-Marie-Tooth Disease Type 1A:Association with a Spontaneous Point Mutation in the PMP22 Gene
NEJM 329:96-101, Roa,B.B.,et al, 1993
Inherited Primary Peripheral Neuropathies
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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
Lancet 339:1081-1082, Hoogendijk,J.E.,et al, 1992
Genetic Linkage of Hereditary Motor & SensoryNeuro Type I (Charcot-Marie-Tooth Disease) to Chrom 1 & 17
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Hereditary Motor & Sensory Neuropathy, X-Linked:A Half Century Follow-Up
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