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-GiovannoliASAnnachiara De Sandre-Giovannoli
- Malika ChaouchMCMalika Chaouch
- Serguei KozlovSKSerguei Kozlov
- Jean-Michel VallatJVJean-Michel Vallat
- Meriem TazirMTMeriem Tazir
- Nadia KassouriNKNadia Kassouri
- Pierre SzepetowskiPSPierre Szepetowski
- Tarik HammadoucheTHTarik Hammadouche
- Antoon VandenbergheAVAntoon Vandenberghe
- Colin L. StewartCSColin L. Stewart
- Djamel GridDGDjamel Grid
- Nicolas LévyNLNicolas Lévy
Top Cited Papers
- 1 March 2002
- journal article
- Published by Elsevier in The American Journal of Human Genetics
- Vol. 70 (3) , 726-736
Abstract
No abstract availableKeywords
This publication has 37 references indexed in Scilit:
- Segregation of a totally skewed pattern of X chromosome inactivation in four familial cases of Rett syndrome withoutMECP2 mutation: implications for the diseaseJournal of Medical Genetics, 2001
- The myotubularin family: from genetic disease to phosphoinositide metabolismTrends in Genetics, 2001
- A New Variant of Charcot-Marie-Tooth Disease Type 2 Is Probably the Result of a Mutation in the Neurofilament-Light GeneThe American Journal of Human Genetics, 2000
- Review: The Dynamics of the Nuclear Lamins during the Cell Cycle— Relationship between Structure and FunctionJournal of Structural Biology, 2000
- LMNA, encoding lamin A/C, is mutated in partial lipodystrophyNature Genetics, 2000
- Missense Mutations in the Rod Domain of the Lamin A/C Gene as Causes of Dilated Cardiomyopathy and Conduction-System DiseaseNew England Journal of Medicine, 1999
- Neuronal Differentiation of NT2/D1 Teratocarcinoma Cells Is Accompanied by a Loss of Lamin A/C Expression and an Increase in Lamin B1 ExpressionExperimental Neurology, 1999
- A gene mutated in X–linked myotubular myopathy defines a new putative tyrosine phosphatase family conserved in yeastNature Genetics, 1996
- Construction of a mouse model of Charcot-Marie-Tooth disease type 1A by pronuclear injection of human YAC DNAHuman Molecular Genetics, 1996
- Identification and Cloning of an mRNA Coding for a Germ Cell-Specific A-Type Lamin in MiceExperimental Cell Research, 1994