Charcot-Marie-Tooth disease and related neuropathies: mutation distribution and genotype-phenotype correlation (Q38292207)

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title

Charcot-Marie-Tooth disease and related neuropathies: mutation distribution and genotype-phenotype correlation (English)

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16

James R Lupski

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12

Pedro Mancias

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14

Karen Krajewski

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15

Michael Shy

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Cornelius F Boerkoel

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Hiroshi Takashima

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Carlos A Garcia

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Richard K Olney

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John Johnson

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Katherine Berry

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Paul Russo

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Shelley Kennedy

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Ahmad S Teebi

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Mena Scavina

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Lowell L Williams

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Ian J Butler

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publication date

1 February 2002

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volume

51

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issue

2

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page(s)

190-201

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Lower motor and primary sensory neuron diseases with peroneal muscular atrophy. I. Neurologic, genetic, and electrophysiologic findings in hereditary polyneuropathies

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cites work

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Charcot-Marie-Tooth disease type 2A caused by mutation in a microtubule motor KIF1Bbeta

21 January 2018

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The gene encoding gigaxonin, a new member of the cytoskeletal BTB/kelch repeat family, is mutated in giant axonal neuropathy

21 January 2018

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Connexin32-null mice develop demyelinating peripheral neuropathy

21 January 2018

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Periaxin mutations cause recessive Dejerine-Sottas neuropathy

21 January 2018

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Denaturing high-performance liquid chromatography of the myotubularin-related 2 gene (MTMR2) in unrelated patients with Charcot-Marie-Tooth disease suggests a low frequency of mutation in inherited neuropathy

21 January 2018

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Mutation nomenclature extensions and suggestions to describe complex mutations: a discussion

21 January 2018

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Central nervous system involvement in four patients with Charcot-Marie-Tooth disease with connexin 32 extracellular mutations

21 January 2018

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X-linked dominant Charcot-Marie-Tooth disease: nerve biopsies allow morphological evaluation and detection of connexin32 mutations (Arg15Trp, Arg22Gln).

21 January 2018

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Missense mutation (R15W) of the connexin32 gene in a family with X chromosomal Charcot-Marie-Tooth neuropathy with only female family members affected

21 January 2018

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X-linked dominant Charcot-Marie-Tooth neuropathy (CMTX): new mutations in the connexin32 gene

21 January 2018

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Connexin32 and X-linked Charcot-Marie-Tooth disease

21 January 2018

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Mutations in the myelin protein zero gene associated with Charcot-Marie-Tooth disease type 1B

21 January 2018

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Rapid screening of myelin genes in CMT1 patients by SSCP analysis: identification of new mutations and polymorphisms in the P0 gene

21 January 2018

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Dejerine-Sottas disease with sensorineural hearing loss, nystagmus, and peripheral facial nerve weakness: de novo dominant point mutation of the PMP22 gene

21 January 2018

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Dejerine-Sottas syndrome associated with point mutation in the peripheral myelin protein 22 (PMP22) gene

21 January 2018

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De-novo mutation in hereditary motor and sensory neuropathy type I.

21 January 2018

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Functional alterations in gap junction channels formed by mutant forms of connexin 32: evidence for loss of function as a pathogenic mechanism in the X-linked form of Charcot-Marie-Tooth disease

21 January 2018

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Connexin 32 mutations from X-linked Charcot-Marie-Tooth disease patients: functional defects and dominant negative effects

21 January 2018

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Changes in permeability caused by connexin 32 mutations underlie X-linked Charcot-Marie-Tooth disease

21 January 2018

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The gap junction family: structure, function and chemistry

21 January 2018

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Central visual, acoustic, and motor pathway involvement in a Charcot-Marie-Tooth family with an Asn205Ser mutation in the connexin 32 gene

21 January 2018

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X-linked dominant Charcot-Marie-Tooth neuropathy: clinical, electrophysiological, and morphological phenotype in four families with different connexin32 mutations(1).

21 January 2018

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Crystal structure of the extracellular domain from P0, the major structural protein of peripheral nerve myelin

21 January 2018

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Axonal phenotype of Charcot-Marie-Tooth disease associated with a mutation in the myelin protein zero gene

21 January 2018

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The Thr124Met mutation in the peripheral myelin protein zero (MPZ) gene is associated with a clinically distinct Charcot-Marie-Tooth phenotype

21 January 2018

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An axonal form of Charcot-Marie-Tooth disease showing distinctive features in association with mutations in the peripheral myelin protein zero gene (Thr124Met or Asp75Val).

21 January 2018

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PMP22 carrying the trembler or trembler-J mutation is intracellularly retained in myelinating Schwann cells

21 January 2018

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PMP22 accumulation in aggresomes: implications for CMT1A pathology

21 January 2018

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A unique point mutation in the PMP22 gene is associated with Charcot-Marie-Tooth disease and deafness

21 January 2018

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Mutational analysis of the MPZ, PMP22 and Cx32 genes in patients of Spanish ancestry with Charcot-Marie-Tooth disease and hereditary neuropathy with liability to pressure palsies

21 January 2018

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Screening of dominantly inherited Charcot-Marie-Tooth neuropathies

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Identifiers

DOI

10.1002/ANA.10089

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1 September 2017

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