Literature DB >> 15744041

Homozygosity mapping of autosomal recessive demyelinating Charcot-Marie-Tooth neuropathy (CMT4H) to a novel locus on chromosome 12p11.21-q13.11.

A De Sandre-Giovannoli, V Delague, T Hamadouche, M Chaouch, M Krahn, I Boccaccio, T Maisonobe, E Chouery, R Jabbour, S Atweh, D Grid, A Mégarbané, N Lévy.   

Abstract

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Year:  2005        PMID： 15744041      PMCID： PMC1736004          DOI： 10.1136/jmg.2004.024364

Source DB:  PubMed          Journal:  J Med Genet        ISSN： 0022-2593            Impact factor:   6.318


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  12 in total

Review 1.  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

2.  A network of conserved formins, regulated by the guanine exchange factor EXC-5 and the GTPase CDC-42, modulates tubulogenesis in vivo.

Authors:  Daniel D Shaye; Iva Greenwald
Journal:  Development       Date:  2016-10-03       Impact factor: 6.868

Review 3.  Diagnosis of Charcot-Marie-Tooth disease.

Authors:  Isabel Banchs; Carlos Casasnovas; Antonia Albertí; Laura De Jorge; Mónica Povedano; Jordi Montero; Juan Antonio Martínez-Matos; Victor Volpini
Journal:  J Biomed Biotechnol       Date:  2009-10-08

4.  A novel Frabin (FGD4) nonsense mutation p.R275X associated with phenotypic variability in CMT4H.

Authors:  Henry Houlden; Simon Hammans; Haider Katifi; Mary M Reilly
Journal:  Neurology       Date:  2009-02-17       Impact factor: 9.910

5.  Peripheral nerve demyelination caused by a mutant Rho GTPase guanine nucleotide exchange factor, frabin/FGD4.

Authors:  Claudia Stendel; Andreas Roos; Tine Deconinck; Jorge Pereira; Francois Castagner; Axel Niemann; Janbernd Kirschner; Rudolf Korinthenberg; Uwe-Peter Ketelsen; Esra Battaloglu; Yesim Parman; Garth Nicholson; Robert Ouvrier; Jürgen Seeger; Peter De Jonghe; Joachim Weis; Alexander Krüttgen; Sabine Rudnik-Schöneborn; Carsten Bergmann; Ueli Suter; Klaus Zerres; Vincent Timmerman; João B Relvas; Jan Senderek
Journal:  Am J Hum Genet       Date:  2007-05-24       Impact factor: 11.025

6.  Mutations in FGD4 encoding the Rho GDP/GTP exchange factor FRABIN cause autosomal recessive Charcot-Marie-Tooth type 4H.

Authors:  Valérie Delague; Arnaud Jacquier; Tarik Hamadouche; Yannick Poitelon; Cécile Baudot; Iréne Boccaccio; Eliane Chouery; Malika Chaouch; Nora Kassouri; Rosette Jabbour; Djamel Grid; Andre Mégarbané; Georg Haase; Nicolas Lévy
Journal:  Am J Hum Genet       Date:  2007-05-15       Impact factor: 11.025

Review 7.  The function of RhoGTPases in axon ensheathment and myelination.

Authors:  M Laura Feltri; Ueli Suter; João B Relvas
Journal:  Glia       Date:  2008-11-01       Impact factor: 8.073

8.  Unraveling gene expression profiles in peripheral motor nerve from amyotrophic lateral sclerosis patients: insights into pathogenesis.

Authors:  Nilo Riva; Ferdinando Clarelli; Teuta Domi; Federica Cerri; Francesca Gallia; Amelia Trimarco; Paola Brambilla; Christian Lunetta; Alberto Lazzerini; Giuseppe Lauria; Carla Taveggia; Sandro Iannaccone; Eduardo Nobile-Orazio; Giancarlo Comi; Maurizio D'Antonio; Filippo Martinelli-Boneschi; Angelo Quattrini
Journal:  Sci Rep       Date:  2016-12-16       Impact factor: 4.379

Review 9.  A Mechanistic Understanding of Axon Degeneration in Chemotherapy-Induced Peripheral Neuropathy.

Authors:  Yusuke Fukuda; Yihang Li; Rosalind A Segal
Journal:  Front Neurosci       Date:  2017-08-31       Impact factor: 4.677

10.  Myelin is dependent on the Charcot-Marie-Tooth Type 4H disease culprit protein FRABIN/FGD4 in Schwann cells.

Authors:  Michael Horn; Reto Baumann; Jorge A Pereira; Páris N M Sidiropoulos; Christian Somandin; Hans Welzl; Claudia Stendel; Tessa Lühmann; Carsten Wessig; Klaus V Toyka; João B Relvas; Jan Senderek; Ueli Suter
Journal:  Brain       Date:  2012-11-20       Impact factor: 13.501
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