Literature DB >> 14985400

A new mutation of the lamin A/C gene leading to autosomal dominant axonal neuropathy, muscular dystrophy, cardiac disease, and leuconychia.

C Goizet, R Ben Yaou, L Demay, P Richard, S Bouillot, M Rouanet, E Hermosilla, G Le Masson, A Lagueny, G Bonne, X Ferrer.   

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Year:  2004        PMID： 14985400      PMCID： PMC1735710          DOI： 10.1136/jmg.2003.013383

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


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  18 in total

Review 1.  Inner nuclear membrane proteins: impact on human disease.

Authors:  Iván Méndez-López; Howard J Worman
Journal:  Chromosoma       Date:  2012-02-04       Impact factor: 4.316

Review 2.  Laminopathies: multiple disorders arising from defects in nuclear architecture.

Authors:  Veena K Parnaik; Kaliyaperumal Manju
Journal:  J Biosci       Date:  2006-09       Impact factor: 1.826

Review 3.  Adult stem cell maintenance and tissue regeneration in the ageing context: the role for A-type lamins as intrinsic modulators of ageing in adult stem cells and their niches.

Authors:  Vanja Pekovic; Christopher J Hutchison
Journal:  J Anat       Date:  2008-07       Impact factor: 2.610

Review 4.  The nuclear envelope: an intriguing focal point for neurogenetic disease.

Authors:  Howard J Worman; William T Dauer
Journal:  Neurotherapeutics       Date:  2014-10       Impact factor: 7.620

Review 5.  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

Review 6.  Beyond membrane channelopathies: alternative mechanisms underlying complex human disease.

Authors:  Konstantinos Dean Boudoulas; Peter J Mohler
Journal:  Acta Pharmacol Sin       Date:  2011-06       Impact factor: 6.150

Review 7.  Lamin A/C Cardiomyopathies: Current Understanding and Novel Treatment Strategies.

Authors:  Xi Wang; Allyson Zabell; Wonshill Koh; W H Wilson Tang
Journal:  Curr Treat Options Cardiovasc Med       Date:  2017-03

8.  Behavioral and molecular exploration of the AR-CMT2A mouse model Lmna (R298C/R298C).

Authors:  Yannick Poitelon; Serguei Kozlov; Jerôme Devaux; Jean-Michel Vallat; Marc Jamon; Pierre Roubertoux; Sitraka Rabarimeriarijaona; Cécile Baudot; Tarik Hamadouche; Colin L Stewart; Nicolas Levy; Valérie Delague
Journal:  Neuromolecular Med       Date:  2012-02-14       Impact factor: 3.843

9.  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

Review 10.  "Laminopathies": a wide spectrum of human diseases.

Authors:  Howard J Worman; Gisèle Bonne
Journal:  Exp Cell Res       Date:  2007-03-30       Impact factor: 3.905
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