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1
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0028902548
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Biology and genetics of hereditary motor and sensory neuropathies
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2
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0025868571
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DNA duplication associated with Charcot-Marie-Tooth disease type 1A
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Genetic basis of inherited peripheral neuropathies
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DNA deletion associated with hereditary neuropathy with liability to pressure palsies
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Deletion of the PMP22 gene and hereditary neuropathy with liability to pressure palsies
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Charcot-Marie-Tooth disease - A new paradigm for the mechanism of inherited disease
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Patel, P.I.1
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Elevated expression of messenger RNA for peripheral myelin protein 22 in biopsied peripheral nerves of patients with Charcot-Marie-Tooth disease type 1A
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Peripheral myelin protein-22 expression in Charcot-Marie-Tooth disease type 1a sural nerve biopsies
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Ultrastructural PMP22 expression in inherited demyelinating neuropathies
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11
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Accumulation of peripheral myelin protein 22 in onion bulbs and Schwann cells of biopsied nerves from patients with Charcot-Marie-Tooth disease type 1A
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Berl
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Nishimura T, Yoshikawa H, Fujimura H, Sakoda S, Yanagihara T. Accumulation of peripheral myelin protein 22 in onion bulbs and Schwann cells of biopsied nerves from patients with Charcot-Marie-Tooth disease type 1A. Acta Neuropathol (Berl) 1996;92:454-460.
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0031035514
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Underexpression of messenger RNA for peripheral myelin protein 22 in hereditary neuropathy with liability to pressure palsies
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Schenone, A.1
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Selective loss of myelin-associated glycoprotein from myelin correlates with anti-MAG antibody titer in demyelinating paraproteinaemic polyneuropathy
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Gabriel, J.-M.1
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17p11.2 Duplication is a common finding in sporadic cases of Charcot-Marie-Tooth type 1
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15
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0028872907
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A 1.5-Mb deletion in 17p11.2-p12 is frequently observed in Italian families with hereditary neuropathy with liability to pressure palsies
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Lorenzetti D, Pareyson D, Sghirlanzoni A, et al. A 1.5-Mb deletion in 17p11.2-p12 is frequently observed in Italian families with hereditary neuropathy with liability to pressure palsies. Am J Hum Genet 1995;56:91-98.
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Pareyson, D.2
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Phenotypic heterogeneity in hereditary neuropathy with liability to pressure palsies associated with chromosome 17p11.2-12 deletion
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Origin of the de novo duplication in Charcot-Marie-Tooth disease type 1A: Unequal nonsister chromatid exchange during spermatogenesis
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Detection and processing of peripheral myelin protein PMP22 in cultured Schwann cells
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Production and characterization of monoclonal antibodies to peripheral and central nervous system myelin
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Hypermyelination and demyelinating peripheral neuropathy in PMP22-deficient mice
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Adlkofer K, Martini R, Aguzzi A, Zielasek J, Toyka KV, Suter U. Hypermyelination and demyelinating peripheral neuropathy in PMP22-deficient mice. Nat Genet 1995;11:274-280.
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Adlkofer, K.1
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Suter, U.6
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