Literature DB >> 21519004

Simultaneous MFN2 and GDAP1 mutations cause major mitochondrial defects in a patient with CMT.

J Cassereau1, C Casasnovas, N Gueguen, M-C Malinge, V Guillet, P Reynier, D Bonneau, P Amati-Bonneau, I Banchs, V Volpini, V Procaccio, A Chevrollier.   

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Year:  2011        PMID： 21519004     DOI： 10.1212/WNL.0b013e318217e77d

Source DB:  PubMed          Journal:  Neurology        ISSN： 0028-3878            Impact factor:   9.910


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  9 in total

Review 1.  Mitochondrial dynamics in neurodegeneration.

Authors:  Kie Itoh; Ken Nakamura; Miho Iijima; Hiromi Sesaki
Journal:  Trends Cell Biol       Date:  2012-11-16       Impact factor: 20.808

2.  Exome Sequence Analysis Suggests that Genetic Burden Contributes to Phenotypic Variability and Complex Neuropathy.

Authors:  Claudia Gonzaga-Jauregui; Tamar Harel; Tomasz Gambin; Maria Kousi; Laurie B Griffin; Ludmila Francescatto; Burcak Ozes; Ender Karaca; Shalini N Jhangiani; Matthew N Bainbridge; Kim S Lawson; Davut Pehlivan; Yuji Okamoto; Marjorie Withers; Pedro Mancias; Anne Slavotinek; Pamela J Reitnauer; Meryem T Goksungur; Michael Shy; Thomas O Crawford; Michel Koenig; Jason Willer; Brittany N Flores; Igor Pediaditrakis; Onder Us; Wojciech Wiszniewski; Yesim Parman; Anthony Antonellis; Donna M Muzny; Nicholas Katsanis; Esra Battaloglu; Eric Boerwinkle; Richard A Gibbs; James R Lupski
Journal:  Cell Rep       Date:  2015-08-06       Impact factor: 9.423

3.  A locus-specific database for mutations in GDAP1 allows analysis of genotype-phenotype correlations in Charcot-Marie-Tooth diseases type 4A and 2K.

Authors:  Julien Cassereau; Arnaud Chevrollier; Dominique Bonneau; Christophe Verny; Vincent Procaccio; Pascal Reynier; Marc Ferré
Journal:  Orphanet J Rare Dis       Date:  2011-12-26       Impact factor: 4.123

4.  Impact of Organelle Transport Deficits on Mitophagy and Autophagy in Niemann-Pick Disease Type C.

Authors:  Maik Liedtke; Christin Völkner; Andreas Hermann; Moritz J Frech
Journal:  Cells       Date:  2022-02-01       Impact factor: 6.600

5.  One PMP22/MPZ and Three MFN2/GDAP1 Concomitant Variants Occurred in a Cohort of 189 Chinese Charcot-Marie-Tooth Families.

Authors:  Yongzhi Xie; Zhiqiang Lin; Xiaobo Li; Lei Liu; Shunxiang Huang; Huadong Zhao; Binghao Wang; Wanqian Cao; Zhengmao Hu; Jifeng Guo; Lu Shen; Beisha Tang; Ruxu Zhang
Journal:  Front Neurol       Date:  2022-01-28       Impact factor: 4.003

6.  Genetic Spectrum of Inherited Neuropathies in India.

Authors:  Shivani Sharma; Periyasamy Govindaraj; Yasha T Chickabasaviah; Ramesh Siram; Akhilesh Shroti; Doniparthi V Seshagiri; Monojit Debnath; Parayil S Bindu; Arun B Taly; Madhu Nagappa
Journal:  Ann Indian Acad Neurol       Date:  2022-06-14       Impact factor: 1.714

7.  Scaling up oligogenic diseases research with OLIDA: the Oligogenic Diseases Database.

Authors:  Charlotte Nachtegael; Barbara Gravel; Arnau Dillen; Guillaume Smits; Ann Nowé; Sofia Papadimitriou; Tom Lenaerts
Journal:  Database (Oxford)       Date:  2022-04-12       Impact factor: 4.462

Review 8.  Iron homeostasis in peripheral nervous system, still a black box?

Authors:  Sonia Levi; Carla Taveggia
Journal:  Antioxid Redox Signal       Date:  2014-03-13       Impact factor: 8.401

9.  Burden of Rare Variants in ALS and Axonal Hereditary Neuropathy Genes Influence Survival in ALS: Insights from a Next Generation Sequencing Study of an Italian ALS Cohort.

Authors:  Stefania Scarlino; Teuta Domi; Laura Pozzi; Alessandro Romano; Giovanni Battista Pipitone; Yuri Matteo Falzone; Lorena Mosca; Silvana Penco; Christian Lunetta; Valeria Sansone; Lucio Tremolizzo; Raffaella Fazio; Federica Agosta; Massimo Filippi; Paola Carrera; Nilo Riva; Angelo Quattrini
Journal:  Int J Mol Sci       Date:  2020-05-08       Impact factor: 5.923
  9 in total

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