Literature DB >> 9713862

2nd Workshop of the European CMT Consortium: 53rd ENMC International Workshop on Classification and Diagnostic Guidelines for Charcot-Marie-Tooth Type 2 (CMT2-HMSN II) and Distal Hereditary Motor Neuropathy (distal HMN-Spinal CMT) 26-28 September 1997, Naarden, The Netherlands.

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Year:  1998        PMID： 9713862

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


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  23 in total

1.  A new variant of Charcot-Marie-Tooth disease type 2 is probably the result of a mutation in the neurofilament-light gene.

Authors:  I V Mersiyanova; A V Perepelov; A V Polyakov; V F Sitnikov; E L Dadali; R B Oparin; A N Petrin; O V Evgrafov
Journal:  Am J Hum Genet       Date:  2000-06-07       Impact factor: 11.025

2.  Small heat shock protein 27 mutation in a Japanese patient with distal hereditary motor neuropathy.

Authors:  Kazuki Kijima; Chikahiko Numakura; Tomohide Goto; Takao Takahashi; Tesshu Otagiri; Kazuo Umetsu; Kiyoshi Hayasaka
Journal:  J Hum Genet       Date:  2005-09-10       Impact factor: 3.172

3.  Comparison of CMT1A and CMT2: similarities and differences.

Authors:  Henriette M E Bienfait; Camiel Verhamme; Ivo N van Schaik; Johannes H T M Koelman; Bram W Ongerboer de Visser; Rob J de Haan; Frank Baas; Baziel G M van Engelen; Marianne de Visser
Journal:  J Neurol       Date:  2006-08-28       Impact factor: 4.849

4.  Missense mutations in the copper transporter gene ATP7A cause X-linked distal hereditary motor neuropathy.

Authors:  Marina L Kennerson; Garth A Nicholson; Stephen G Kaler; Bartosz Kowalski; Julian F B Mercer; Jingrong Tang; Roxana M Llanos; Shannon Chu; Reinaldo I Takata; Carlos E Speck-Martins; Jonathan Baets; Leonardo Almeida-Souza; Dirk Fischer; Vincent Timmerman; Philip E Taylor; Steven S Scherer; Toby A Ferguson; Thomas D Bird; Peter De Jonghe; Shawna M E Feely; Michael E Shy; James Y Garbern
Journal:  Am J Hum Genet       Date:  2010-02-18       Impact factor: 11.025

Review 5.  ATP7A-related copper transport diseases-emerging concepts and future trends.

Authors:  Stephen G Kaler
Journal:  Nat Rev Neurol       Date:  2011-01       Impact factor: 42.937

6.  A charcot-marie-tooth type 1B kindred associated with hemifacial spasm and trigeminal neuralgia.

Authors:  James B Caress; James A Lewis; Clark W Pinyan; Victoria H Lawson
Journal:  Muscle Nerve       Date:  2019-04-08       Impact factor: 3.217

Review 7.  A review of genetic counseling for Charcot Marie Tooth disease (CMT).

Authors:  Carly E Siskind; Seema Panchal; Corrine O Smith; Shawna M E Feely; Joline C Dalton; Alice B Schindler; Karen M Krajewski
Journal:  J Genet Couns       Date:  2013-04-21       Impact factor: 2.537

Review 8.  Neuropathology of Charcot-Marie-Tooth and related disorders.

Authors:  J Michael Schröder
Journal:  Neuromolecular Med       Date:  2006       Impact factor: 3.843

9.  Localization of the gene for distal hereditary motor neuronopathy VII (dHMN-VII) to chromosome 2q14.

Authors:  M McEntagart; N Norton; H Williams; M D Teare; M Dunstan; P Baker; H Houlden; M Reilly; N Wood; P S Harper; P A Futreal; N Williams; N Rahman
Journal:  Am J Hum Genet       Date:  2001-04-04       Impact factor: 11.025

10.  Homozygous defects in LMNA, encoding lamin A/C nuclear-envelope proteins, cause autosomal recessive axonal neuropathy in human (Charcot-Marie-Tooth disorder type 2) and mouse.

Authors:  Annachiara De Sandre-Giovannoli; Malika Chaouch; Serguei Kozlov; Jean-Michel Vallat; Meriem Tazir; Nadia Kassouri; Pierre Szepetowski; Tarik Hammadouche; Antoon Vandenberghe; Colin L Stewart; Djamel Grid; Nicolas Lévy
Journal:  Am J Hum Genet       Date:  2002-01-17       Impact factor: 11.025
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