Literature DB >> 8644725

High frequency of mutations in codon 98 of the peripheral myelin protein P0 gene in 20 French CMT1 patients.

H Rouger, E LeGuern, R Gouider, S Tardieu, N Birouk, M Gugenheim, P Bouche, Y Agid, A Brice.   

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Year:  1996        PMID： 8644725      PMCID： PMC1914563     

Source DB:  PubMed          Journal:  Am J Hum Genet        ISSN： 0002-9297            Impact factor:   11.025


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  15 in total

1.  Genetic and clinical aspects of Charcot-Marie-Tooth's disease.

Authors:  H Skre
Journal:  Clin Genet       Date:  1974       Impact factor: 4.438

2.  Estimation of the size of the chromosome 17p11.2 duplication in Charcot-Marie-Tooth neuropathy type 1a (CMT1a). HMSN Collaborative Research Group.

Authors:  P Raeymaekers; V Timmerman; E Nelis; W Van Hul; P De Jonghe; J J Martin; C Van Broeckhoven
Journal:  J Med Genet       Date:  1992-01       Impact factor: 6.318

3.  Mutation of the myelin P0 gene in Charcot-Marie-tooth neuropathy type 1.

Authors:  K Hayasaka; A Ohnishi; G Takada; Y Fukushima; Y Murai
Journal:  Biochem Biophys Res Commun       Date:  1993-08-16       Impact factor: 3.575

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

Authors:  P Latour; F Blanquet; E Nelis; C Bonnebouche; F Chapon; P Diraison; E Ollagnon; A Dautigny; D Pham-Dinh; G Chazot
Journal:  Hum Mutat       Date:  1995       Impact factor: 4.878

5.  Deletion of the serine 34 codon from the major peripheral myelin protein P0 gene in Charcot-Marie-Tooth disease type 1B.

Authors:  T Kulkens; P A Bolhuis; R A Wolterman; S Kemp; S te Nijenhuis; L J Valentijn; G W Hensels; F G Jennekens; M de Visser; J E Hoogendijk
Journal:  Nat Genet       Date:  1993-09       Impact factor: 38.330

6.  Mutation of the myelin P0 gene in Charcot-Marie-Tooth neuropathy type 1B.

Authors:  K Hayasaka; G Takada; V V Ionasescu
Journal:  Hum Mol Genet       Date:  1993-09       Impact factor: 6.150

7.  Charcot-Marie-Tooth neuropathy type 1B is associated with mutations of the myelin P0 gene.

Authors:  K Hayasaka; M Himoro; W Sato; G Takada; K Uyemura; N Shimizu; T D Bird; P M Conneally; P F Chance
Journal:  Nat Genet       Date:  1993-09       Impact factor: 38.330

8.  Duplication within chromosome 17p11.2 in 12 families of French ancestry with Charcot-Marie-Tooth disease type 1a. The French CMT Research Group.

Authors:  A Brice; N Ravisé; G Stevanin; M Gugenheim; P Bouche; C Penet; Y Agid
Journal:  J Med Genet       Date:  1992-11       Impact factor: 6.318

9.  Identical point mutations of PMP-22 in Trembler-J mouse and Charcot-Marie-Tooth disease type 1A.

Authors:  L J Valentijn; F Baas; R A Wolterman; J E Hoogendijk; N H van den Bosch; I Zorn; A W Gabreëls-Festen; M de Visser; P A Bolhuis
Journal:  Nat Genet       Date:  1992-12       Impact factor: 38.330

10.  Charcot-Marie-Tooth disease type 1A. Association with a spontaneous point mutation in the PMP22 gene.

Authors:  B B Roa; C A Garcia; U Suter; D A Kulpa; C A Wise; J Mueller; A A Welcher; G J Snipes; E M Shooter; P I Patel; J R Lupski
Journal:  N Engl J Med       Date:  1993-07-08       Impact factor: 91.245
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  5 in total

1.  Median nerve motor conduction velocity is concordant with myelin protein zero gene mutation.

Authors:  Yi-Chung Lee; Bing-Wen Soong; Yo-Tsen Liu; Kon-Ping Lin; Ker-Pei Kao; Zin-An Wu
Journal:  J Neurol       Date:  2005-02       Impact factor: 4.849

2.  A novel mutation of myelin protein zero associated with late-onset predominantly axonal Charcot-Marie-Tooth disease.

Authors:  Maria Marttila; Bernd Rautenstrauss; Kathrin Huehne; Virpi Laitinen; Kari Majamaa; Mikko Kärppä
Journal:  J Neurol       Date:  2012-01-06       Impact factor: 4.849

3.  Steroid responsive polyneuropathy in a family with a novel myelin protein zero mutation.

Authors:  M Donaghy; S M Sisodiya; R Kennett; B McDonald; N Haites; C Bell
Journal:  J Neurol Neurosurg Psychiatry       Date:  2000-12       Impact factor: 10.154

4.  Genotype-phenotype characteristics and baseline natural history of heritable neuropathies caused by mutations in the MPZ gene.

Authors:  Oranee Sanmaneechai; Shawna Feely; Steven S Scherer; David N Herrmann; Joshua Burns; Francesco Muntoni; Jun Li; Carly E Siskind; John W Day; Matilde Laura; Charlotte J Sumner; Thomas E Lloyd; Sindhu Ramchandren; Rosemary R Shy; Tiffany Grider; Chelsea Bacon; Richard S Finkel; Sabrina W Yum; Isabella Moroni; Giuseppe Piscosquito; Davide Pareyson; Mary M Reilly; Michael E Shy
Journal:  Brain       Date:  2015-08-25       Impact factor: 13.501

5.  Genetic and clinical spectrums in Korean Charcot-Marie-Tooth disease patients with myelin protein zero mutations.

Authors:  Hye Jin Kim; Soo Hyun Nam; Hye Mi Kwon; Si On Lim; Jae Hong Park; Hyun Su Kim; Sang Beom Kim; Kyung Suk Lee; Ji Eun Lee; Byung-Ok Choi; Ki Wha Chung
Journal:  Mol Genet Genomic Med       Date:  2021-04-06       Impact factor: 2.183
  5 in total

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