Literature DB >> 15789136

A new LMNA mutation causing limb girdle muscular dystrophy 1B.

Simone Spuler, Christian Geier, Karl Josef Osterziel, Matthias Gutberlet, Janine Genschel, Thomas-Nicolas Lehmann, Sophie Zinn-Justin, Bernard Gilquin, Hartmut Schmidt.   

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Year:  2005        PMID： 15789136     DOI： 10.1007/s00415-005-0719-x

Source DB:  PubMed          Journal:  J Neurol        ISSN： 0340-5354            Impact factor:   4.849


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  14 in total

1.  Lamin a truncation in Hutchinson-Gilford progeria.

Authors:  Annachiara De Sandre-Giovannoli; Rafaëlle Bernard; Pierre Cau; Claire Navarro; Jeanne Amiel; Irène Boccaccio; Stanislas Lyonnet; Colin L Stewart; Arnold Munnich; Martine Le Merrer; Nicolas Lévy
Journal:  Science       Date:  2003-04-17       Impact factor: 47.728

2.  LMNA, encoding lamin A/C, is mutated in partial lipodystrophy.

Authors:  S Shackleton; D J Lloyd; S N Jackson; R Evans; M F Niermeijer; B M Singh; H Schmidt; G Brabant; S Kumar; P N Durrington; S Gregory; S O'Rahilly; R C Trembath
Journal:  Nat Genet       Date:  2000-02       Impact factor: 38.330

3.  A synonymous codon change in the LMNA gene alters mRNA splicing and causes limb girdle muscular dystrophy type 1B.

Authors:  A Todorova; B Halliger-Keller; M C Walter; M-C Dabauvalle; H Lochmüller; C R Müller
Journal:  J Med Genet       Date:  2003-10       Impact factor: 6.318

4.  The Ig-like structure of the C-terminal domain of lamin A/C, mutated in muscular dystrophies, cardiomyopathy, and partial lipodystrophy.

Authors:  Isabelle Krimm; Cecilia Ostlund; Bernard Gilquin; Joël Couprie; Paul Hossenlopp; Jean-Paul Mornon; Gisèle Bonne; Jean-Claude Courvalin; Howard J Worman; Sophie Zinn-Justin
Journal:  Structure       Date:  2002-06       Impact factor: 5.006

5.  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-Giovannoli; Malika Chaouch; Serguei Kozlov; Jean-Michel Vallat; Meriem Tazir; Nadia Kassouri; Pierre Szepetowski; Tarik Hammadouche; Antoon Vandenberghe; Colin L Stewart; Djamel Grid; Nicolas Lévy
Journal:  Am J Hum Genet       Date:  2002-01-17       Impact factor: 11.025

6.  Relationship of MRI delayed contrast enhancement to irreversible injury, infarct age, and contractile function.

Authors:  R J Kim; D S Fieno; T B Parrish; K Harris; E L Chen; O Simonetti; J Bundy; J P Finn; F J Klocke; R M Judd
Journal:  Circulation       Date:  1999-11-09       Impact factor: 29.690

7.  A missense mutation in the exon 8 of lamin A/C gene in a Japanese case of autosomal dominant limb-girdle muscular dystrophy and cardiac conduction block.

Authors:  T Kitaguchi; S Matsubara; M Sato; K Miyamoto; S Hirai; K Schwartz; G Bonne
Journal:  Neuromuscul Disord       Date:  2001-09       Impact factor: 4.296

8.  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

9.  Mutations in the gene encoding lamin A/C cause autosomal dominant Emery-Dreifuss muscular dystrophy.

Authors:  G Bonne; M R Di Barletta; S Varnous; H M Bécane; E H Hammouda; L Merlini; F Muntoni; C R Greenberg; F Gary; J A Urtizberea; D Duboc; M Fardeau; D Toniolo; K Schwartz
Journal:  Nat Genet       Date:  1999-03       Impact factor: 38.330

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.  LMNA mutations, skeletal muscle lipid metabolism, and insulin resistance.

Authors:  Michael Boschmann; Stefan Engeli; Cedric Moro; Angelika Luedtke; Frauke Adams; Kerstin Gorzelniak; Gabriele Rahn; Anja Mähler; Kerstin Dobberstein; Antje Krüger; Saskia Schmidt; Simone Spuler; Friedrich C Luft; Steven R Smith; Hartmut H-J Schmidt; Jens Jordan
Journal:  J Clin Endocrinol Metab       Date:  2010-02-03       Impact factor: 5.958
  1 in total

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