Literature DB >> 15805163

Genetics of Charcot-Marie-Tooth disease type 4A: mutations, inheritance, phenotypic variability, and founder effect.

R Claramunt, L Pedrola, T Sevilla, A López de Munain, J Berciano, A Cuesta, B Sánchez-Navarro, J M Millán, G M Saifi, J R Lupski, J J Vílchez, C Espinós, F Palau.   

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Year:  2005        PMID： 15805163      PMCID： PMC1736030          DOI： 10.1136/jmg.2004.022178

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


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  47 in total

1.  TRPV4 mutations and cytotoxic hypercalcemia in axonal Charcot-Marie-Tooth neuropathies.

Authors:  C J Klein; Y Shi; F Fecto; M Donaghy; G Nicholson; M E McEntagart; A H Crosby; Y Wu; H Lou; K M McEvoy; T Siddique; H-X Deng; P J Dyck
Journal:  Neurology       Date:  2011-02-02       Impact factor: 9.910

2.  Charcot-Marie-Tooth disease: genetic and clinical spectrum in a Spanish clinical series.

Authors:  Rafael Sivera; Teresa Sevilla; Juan Jesús Vílchez; Dolores Martínez-Rubio; María José Chumillas; Juan Francisco Vázquez; Nuria Muelas; Luis Bataller; José María Millán; Fancesc Palau; Carmen Espinós
Journal:  Neurology       Date:  2013-09-27       Impact factor: 9.910

3.  A frameshift mutation in LRSAM1 is responsible for a dominant hereditary polyneuropathy.

Authors:  Marian A J Weterman; Vincenzo Sorrentino; Paul R Kasher; Marja E Jakobs; Baziel G M van Engelen; Kees Fluiter; Marit B de Wissel; Aleksander Sizarov; Gudrun Nürnberg; Peter Nürnberg; Noam Zelcer; H Jurgen Schelhaas; Frank Baas
Journal:  Hum Mol Genet       Date:  2011-10-19       Impact factor: 6.150

Review 4.  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

5.  WES homozygosity mapping in a recessive form of Charcot-Marie-Tooth neuropathy reveals intronic GDAP1 variant leading to a premature stop codon.

Authors:  Marion Masingue; Jimmy Perrot; Robert-Yves Carlier; Guenaelle Piguet-Lacroix; Philippe Latour; Tanya Stojkovic
Journal:  Neurogenetics       Date:  2018-02-02       Impact factor: 2.660

6.  Identification of the variant Ala335Val of MED25 as responsible for CMT2B2: molecular data, functional studies of the SH3 recognition motif and correlation between wild-type MED25 and PMP22 RNA levels in CMT1A animal models.

Authors:  Alejandro Leal; Kathrin Huehne; Finn Bauer; Heinrich Sticht; Philipp Berger; Ueli Suter; Bernal Morera; Gerardo Del Valle; James R Lupski; Arif Ekici; Francesca Pasutto; Sabine Endele; Ramiro Barrantes; Corinna Berghoff; Martin Berghoff; Bernhard Neundörfer; Dieter Heuss; Thomas Dorn; Peter Young; Lisa Santolin; Thomas Uhlmann; Michael Meisterernst; Michael Werner Sereda; Michael Sereda; Ruth Martha Stassart; Gerd Meyer zu Horste; Klaus-Armin Nave; André Reis; Bernd Rautenstrauss
Journal:  Neurogenetics       Date:  2009-03-17       Impact factor: 2.660

7.  Dominant GDAP1 founder mutation is a common cause of axonal Charcot-Marie-Tooth disease in Finland.

Authors:  Mari Auranen; Emil Ylikallio; Jussi Toppila; Mirja Somer; Sari Kiuru-Enari; Henna Tyynismaa
Journal:  Neurogenetics       Date:  2013-03-03       Impact factor: 2.660

8.  Genotype-phenotype correlation and frequency of distribution in a cohort of Chinese Charcot-Marie-Tooth patients associated with GDAP1 mutations.

Authors:  Pukar Singh Pakhrin; Yongzhi Xie; Zhengmao Hu; Xiaobo Li; Lei Liu; Shunxiang Huang; Binghao Wang; Zihan Yang; Jiejun Zhang; Xin Liu; Kun Xia; Beisha Tang; Ruxu Zhang
Journal:  J Neurol       Date:  2018-01-25       Impact factor: 4.849

9.  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

10.  Mitochondrial complex I deficiency in GDAP1-related autosomal dominant Charcot-Marie-Tooth disease (CMT2K).

Authors:  Julien Cassereau; Arnaud Chevrollier; Naïg Gueguen; Marie-Claire Malinge; Franck Letournel; Guillaume Nicolas; Laurence Richard; Marc Ferre; Christophe Verny; Frédéric Dubas; Vincent Procaccio; Patrizia Amati-Bonneau; Dominique Bonneau; Pascal Reynier
Journal:  Neurogenetics       Date:  2008-12-17       Impact factor: 2.660
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