Literature DB >> 25572245

First report of a novel LMNA mutation in a Chinese family with limb-girdle muscular dystrophy.

Guo Hong1, Zhou Dan, Dai Limeng, Chi Luxiang, Yun Bai.   

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Year:  2014        PMID： 25572245     DOI： 10.1007/s12041-014-0445-1

Source DB:  PubMed          Journal:  J Genet        ISSN： 0022-1333            Impact factor:   1.166


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  12 in total

1.  Clinical and molecular genetic spectrum of autosomal dominant Emery-Dreifuss muscular dystrophy due to mutations of the lamin A/C gene.

Authors:  G Bonne; E Mercuri; A Muchir; A Urtizberea; H M Bécane; D Recan; L Merlini; M Wehnert; R Boor; U Reuner; M Vorgerd; E M Wicklein; B Eymard; D Duboc; I Penisson-Besnier; J M Cuisset; X Ferrer; I Desguerre; D Lacombe; K Bushby; C Pollitt; D Toniolo; M Fardeau; K Schwartz; F Muntoni
Journal:  Ann Neurol       Date:  2000-08       Impact factor: 10.422

2.  Novel LMNA mutations in patients with Emery-Dreifuss muscular dystrophy and functional characterization of four LMNA mutations.

Authors:  Juergen Scharner; Charlotte A Brown; Matthew Bower; Susan T Iannaccone; Ismail A Khatri; Diana Escolar; Erynn Gordon; Kevin Felice; Carol A Crowe; Carla Grosmann; Matthew N Meriggioli; Alexander Asamoah; Ora Gordon; Viola F Gnocchi; Juliet A Ellis; Jerry R Mendell; Peter S Zammit
Journal:  Hum Mutat       Date:  2011-01-25       Impact factor: 4.878

Review 3.  Nuclear lamins and laminopathies.

Authors:  Howard J Worman
Journal:  J Pathol       Date:  2011-11-14       Impact factor: 7.996

Review 4.  Human laminopathies: nuclei gone genetically awry.

Authors:  Brian C Capell; Francis S Collins
Journal:  Nat Rev Genet       Date:  2006-12       Impact factor: 53.242

5.  Identification of mutations in the gene encoding lamins A/C in autosomal dominant limb girdle muscular dystrophy with atrioventricular conduction disturbances (LGMD1B).

Authors:  A Muchir; G Bonne; A J van der Kooi; M van Meegen; F Baas; P A Bolhuis; M de Visser; K Schwartz
Journal:  Hum Mol Genet       Date:  2000-05-22       Impact factor: 6.150

6.  Targeted gene correction of laminopathy-associated LMNA mutations in patient-specific iPSCs.

Authors:  Guang-Hui Liu; Keiichiro Suzuki; Jing Qu; Ignacio Sancho-Martinez; Fei Yi; Mo Li; Sachin Kumar; Emmanuel Nivet; Jessica Kim; Rupa Devi Soligalla; Ilir Dubova; April Goebl; Nongluk Plongthongkum; Ho-Lim Fung; Kun Zhang; Jeanne F Loring; Louise C Laurent; Juan Carlos Izpisua Belmonte
Journal:  Cell Stem Cell       Date:  2011-05-19       Impact factor: 24.633

Review 7.  Update on the genetics of limb girdle muscular dystrophy.

Authors:  Satomi Mitsuhashi; Peter B Kang
Journal:  Semin Pediatr Neurol       Date:  2012-12       Impact factor: 1.636

8.  Novel LMNA mutation in a Taiwanese family with autosomal dominant Emery-Dreifuss muscular dystrophy.

Authors:  Wen-Chen Liang; Chung-Yee Yuo; Chun-Ya Liu; Chee-Siong Lee; Kanako Goto; Yukiko K Hayashi; Yuh-Jyh Jong
Journal:  J Formos Med Assoc       Date:  2007-02       Impact factor: 3.282

9.  Primer3--new capabilities and interfaces.

Authors:  Andreas Untergasser; Ioana Cutcutache; Triinu Koressaar; Jian Ye; Brant C Faircloth; Maido Remm; Steven G Rozen
Journal:  Nucleic Acids Res       Date:  2012-06-22       Impact factor: 16.971

10.  Mutation analysis of the lamin A/C gene (LMNA) among patients with different cardiomuscular phenotypes.

Authors:  M Vytopil; S Benedetti; E Ricci; G Galluzzi; A Dello Russo; L Merlini; G Boriani; M Gallina; L Morandi; L Politano; M Moggio; L Chiveri; I Hausmanova-Petrusewicz; R Ricotti; S Vohanka; J Toman; D Toniolo
Journal:  J Med Genet       Date:  2003-12       Impact factor: 6.318
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  1 in total

1.  Three new cases of dilated cardiomyopathy caused by mutations in LMNA gene.

Authors:  Larysa N Sivitskaya; Nina G Danilenko; Tatiyana G Vaikhanskaya; Tatsiyana V Kurushka; Oleg G Davydenko
Journal:  Acta Myol       Date:  2017-12-01
  1 in total

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