Literature DB >> 12843336

Phenotypic and genetic exploration of severe demyelinating and secondary axonal neuropathies resulting from GDAP1 nonsense and splicing mutations.

A De Sandre-Giovannoli1, M Chaouch, I Boccaccio, R Bernard, V Delague, D Grid, J M Vallat, N Lévy, A Mégarbané.   

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Year:  2003        PMID： 12843336      PMCID： PMC1735511          DOI： 10.1136/jmg.40.7.e87

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


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  8 in total

Review 1.  Molecular genetics of autosomal-recessive axonal Charcot-Marie-Tooth neuropathies.

Authors:  Rafaëlle Bernard; Annachiara De Sandre-Giovannoli; Valérie Delague; Nicolas Lévy
Journal:  Neuromolecular Med       Date:  2006       Impact factor: 3.843

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

Authors:  J M Vallat; D Grid; C Magdelaine; F Sturtz; M Tazir
Journal:  Curr Neurol Neurosci Rep       Date:  2004-09       Impact factor: 5.081

3.  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

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

Review 5.  Implications of mitochondrial dynamics on neurodegeneration and on hypothalamic dysfunction.

Authors:  Antonio Zorzano; Marc Claret
Journal:  Front Aging Neurosci       Date:  2015-06-10       Impact factor: 5.750

6.  Cell expression of GDAP1 in the nervous system and pathogenesis of Charcot-Marie-Tooth type 4A disease.

Authors:  Laia Pedrola; Antonio Espert; Teresa Valdés-Sánchez; Maribel Sánchez-Piris; Erich E Sirkowski; Steven S Scherer; Isabel Fariñas; Francesc Palau
Journal:  J Cell Mol Med       Date:  2007-11-16       Impact factor: 5.310

7.  A 20-year Clinical and Genetic Neuromuscular Cohort Analysis in Lebanon: An International Effort.

Authors:  Andre Megarbane; Sami Bizzari; Asha Deepthi; Sandra Sabbagh; Hicham Mansour; Eliane Chouery; Ghassan Hmaimess; Rosette Jabbour; Cybel Mehawej; Saada Alame; Abeer Hani; Dana Hasbini; Ismat Ghanem; Salam Koussa; Mahmoud Taleb Al-Ali; Marc Obeid; Diana Bou Talea; Gerard Lefranc; Nicolas Lévy; France Leturcq; Stephany El Hayek; Valérie Delague; J Andoni Urtizberea
Journal:  J Neuromuscul Dis       Date:  2022

8.  The Pathological Features of Common Hereditary Mitochondrial Dynamics Neuropathy.

Authors:  Rui Wu; He Lv; Hui Wang; Zhaoxia Wang; Yun Yuan
Journal:  Front Neurosci       Date:  2021-07-22       Impact factor: 4.677
  8 in total

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