Literature DB >> 10399758

4th Workshop of the European CMT-Consortium--62nd ENMC International Workshop: rare forms of Charcot-Marie-Tooth disease and related disorders 16-18 October 1998, Soestduinen, The Netherlands.

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Abstract

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Year:  1999        PMID： 10399758     DOI： 10.1016/s0960-8966(99)00017-6

Source DB:  PubMed          Journal:  Neuromuscul Disord        ISSN： 0960-8966            Impact factor:   4.296


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  10 in total

1.  Founder mutations in NDRG1 and HK1 genes are common causes of inherited neuropathies among Roma/Gypsies in Slovakia.

Authors:  Dana Gabrikova; Martin Mistrik; Jarmila Bernasovska; Alexandra Bozikova; Regina Behulova; Iveta Tothova; Sona Macekova
Journal:  J Appl Genet       Date:  2013-08-31       Impact factor: 3.240

Review 2.  Autosomal-recessive forms of demyelinating Charcot-Marie-Tooth disease.

Authors:  O Dubourg; H Azzedine; C Verny; G Durosier; N Birouk; R Gouider; M Salih; A Bouhouche; A Thiam; D Grid; M Mayer; M Ruberg; M Tazir; A Brice; E LeGuern
Journal:  Neuromolecular Med       Date:  2006       Impact factor: 3.843

Review 3.  [Genetics of neuropathies].

Authors:  B Gess; A Schirmacher; P Young
Journal:  Nervenarzt       Date:  2013-02       Impact factor: 1.214

4.  Novel GDAP1 mutation in a Turkish family with CMT2K (CMT2K with novel GDAP1 mutation).

Authors:  Nilufer Sahin-Calapoglu; Meliha Tan; Mustafa Soyoz; Mustafa Calapoglu; Nurten Ozcelik
Journal:  Neuromolecular Med       Date:  2009-04-19       Impact factor: 3.843

5.  Mutations in a gene encoding a novel SH3/TPR domain protein cause autosomal recessive Charcot-Marie-Tooth type 4C neuropathy.

Authors:  Jan Senderek; Carsten Bergmann; Claudia Stendel; Jutta Kirfel; Nathalie Verpoorten; Peter De Jonghe; Vincent Timmerman; Roman Chrast; Mark H G Verheijen; Greg Lemke; Esra Battaloglu; Yesim Parman; Sevim Erdem; Ersin Tan; Haluk Topaloglu; Andreas Hahn; Wolfgang Müller-Felber; Nicolò Rizzuto; Gian Maria Fabrizi; Manfred Stuhrmann; Sabine Rudnik-Schöneborn; Stephan Züchner; J Michael Schröder; Eckhard Buchheim; Volker Straub; Jörg Klepper; Kathrin Huehne; Bernd Rautenstrauss; Reinhard Büttner; Eva Nelis; Klaus Zerres
Journal:  Am J Hum Genet       Date:  2003-10-21       Impact factor: 11.025

6.  Two novel mutations in the GDAP1 and PRX genes in early onset Charcot-Marie-Tooth syndrome.

Authors:  M Auer-Grumbach; C Fischer; L Papić; E John; B Plecko; R E Bittner; G Bernert; T R Pieber; G Miltenberger; R Schwarz; C Windpassinger; F Grill; V Timmerman; M R Speicher; A R Janecke
Journal:  Neuropediatrics       Date:  2008-02       Impact factor: 1.947

7.  Backpack palsy and other brachial plexus neuropathies in the military population.

Authors:  Sanne M Dorhout Mees; Nina L van Faals; Nens van Alfen
Journal:  J Peripher Nerv Syst       Date:  2020-01-29       Impact factor: 3.494

8.  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

9.  Exonic duplication CNV of NDRG1 associated with autosomal-recessive HMSN-Lom/CMT4D.

Authors:  Yuji Okamoto; Meryem Tuba Goksungur; Davut Pehlivan; Christine R Beck; Claudia Gonzaga-Jauregui; Donna M Muzny; Mehmed M Atik; Claudia M B Carvalho; Zeliha Matur; Serife Bayraktar; Philip M Boone; Kaya Akyuz; Richard A Gibbs; Esra Battaloglu; Yesim Parman; James R Lupski
Journal:  Genet Med       Date:  2013-10-17       Impact factor: 8.822

10.  Mutations in MME cause an autosomal-recessive Charcot-Marie-Tooth disease type 2.

Authors:  Yujiro Higuchi; Akihiro Hashiguchi; Junhui Yuan; Akiko Yoshimura; Jun Mitsui; Hiroyuki Ishiura; Masaki Tanaka; Satoshi Ishihara; Hajime Tanabe; Satoshi Nozuma; Yuji Okamoto; Eiji Matsuura; Ryuichi Ohkubo; Saeko Inamizu; Wataru Shiraishi; Ryo Yamasaki; Yasumasa Ohyagi; Jun-ichi Kira; Yasushi Oya; Hayato Yabe; Noriko Nishikawa; Shinsuke Tobisawa; Nozomu Matsuda; Masayuki Masuda; Chiharu Kugimoto; Kazuhiro Fukushima; Satoshi Yano; Jun Yoshimura; Koichiro Doi; Masanori Nakagawa; Shinichi Morishita; Shoji Tsuji; Hiroshi Takashima
Journal:  Ann Neurol       Date:  2016-03-17       Impact factor: 10.422
  10 in total

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