Literature DB >> 16096811

Four novel connexin 32 mutations in X-linked Charcot-Marie-Tooth disease with phenotypic variability.

G Karadima, M Panas, P Floroskufi, N Kalfakis, D Vassilopoulos.   

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Year:  2005        PMID： 16096811     DOI： 10.1007/s00415-005-0955-0

Source DB:  PubMed          Journal:  J Neurol        ISSN： 0340-5354            Impact factor:   4.849


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  11 in total

1.  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.

Authors:  C K Abrams; M M Freidin; V K Verselis; M V Bennett; T A Bargiello
Journal:  Brain Res       Date:  2001-05-04       Impact factor: 3.252

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

Authors:  M Panas; C Karadimas; D Avramopoulos; D Vassilopoulos
Journal:  J Neurol Neurosurg Psychiatry       Date:  1998-12       Impact factor: 10.154

3.  Four novel mutations of the connexin 32 gene in four Japanese families with Charcot-Marie-Tooth disease type 1.

Authors:  T Ikegami; C Lin; M Kato; A Itoh; I Nonaka; M Kurimura; H Hirayabashi; Y Shinohara; A Mochizuki; K Hayasaka
Journal:  Am J Med Genet       Date:  1998-12-04

4.  X-linked Charcot-Marie-Tooth disease and connexin32.

Authors:  V V Ionasescu
Journal:  Cell Biol Int       Date:  1998-11       Impact factor: 3.612

5.  Episodes of generalized weakness in two sibs with the C164T mutation of the connexin 32 gene.

Authors:  M Panas; N Kalfakis; C Karadimas; D Vassilopoulos
Journal:  Neurology       Date:  2001-11-27       Impact factor: 9.910

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

Authors:  Y Omori; M Mesnil; H Yamasaki
Journal:  Mol Biol Cell       Date:  1996-06       Impact factor: 4.138

7.  Functional analysis of connexin-32 mutants associated with X-linked dominant Charcot-Marie-Tooth disease.

Authors:  Hung-Li Wang; Wen-Teng Chang; Tu-Hsueh Yeh; Tony Wu; Mei-Shin Chen; Ching-Yi Wu
Journal:  Neurobiol Dis       Date:  2004-03       Impact factor: 5.996

Review 8.  Connexin32 and X-linked Charcot-Marie-Tooth disease.

Authors:  L J Bone; S M Deschênes; R J Balice-Gordon; K H Fischbeck; S S Scherer
Journal:  Neurobiol Dis       Date:  1997       Impact factor: 5.996

9.  Connexin mutations in X-linked Charcot-Marie-Tooth disease.

Authors:  J Bergoffen; S S Scherer; S Wang; M O Scott; L J Bone; D L Paul; K Chen; M W Lensch; P F Chance; K H Fischbeck
Journal:  Science       Date:  1993-12-24       Impact factor: 47.728

Review 10.  Clinical features and molecular genetics of hereditary peripheral neuropathies.

Authors:  Gregor Kuhlenbäumer; Peter Young; Gert Hünermund; Bernd Ringelstein; Florian Stögbauer
Journal:  J Neurol       Date:  2002-12       Impact factor: 4.849
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  2 in total

Review 1.  Gap junctions in inherited human disorders of the central nervous system.

Authors:  Charles K Abrams; Steven S Scherer
Journal:  Biochim Biophys Acta       Date:  2011-08-16

2.  A new mutation in GJC2 associated with subclinical leukodystrophy.

Authors:  Charles K Abrams; Steven S Scherer; Rafael Flores-Obando; Mona M Freidin; Sarah Wong; Eleonora Lamantea; Laura Farina; Vidmer Scaioli; Davide Pareyson; Ettore Salsano
Journal:  J Neurol       Date:  2014-07-25       Impact factor: 4.849
  2 in total

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