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Results: 1 to 20 of 101

Similar articles for PubMed (Select 22006685)

1.

Does the severity of the LGMD2A phenotype in compound heterozygotes depend on the combination of mutations?

Sáenz A, Ono Y, Sorimachi H, Goicoechea M, Leturcq F, Blázquez L, García-Bragado F, Marina A, Poza JJ, Azpitarte M, Doi N, Urtasun M, Kaplan JC, López de Munain A.

Muscle Nerve. 2011 Nov;44(5):710-4. doi: 10.1002/mus.22194.

PMID:
22006685
2.

LGMD2A: genotype-phenotype correlations based on a large mutational survey on the calpain 3 gene.

Sáenz A, Leturcq F, Cobo AM, Poza JJ, Ferrer X, Otaegui D, Camaño P, Urtasun M, Vílchez J, Gutiérrez-Rivas E, Emparanza J, Merlini L, Paisán C, Goicoechea M, Blázquez L, Eymard B, Lochmuller H, Walter M, Bonnemann C, Figarella-Branger D, Kaplan JC, Urtizberea JA, Martí-Massó JF, López de Munain A.

Brain. 2005 Apr;128(Pt 4):732-42. Epub 2005 Feb 2.

3.

Muscle MRI findings in patients with limb girdle muscular dystrophy with calpain 3 deficiency (LGMD2A) and early contractures.

Mercuri E, Bushby K, Ricci E, Birchall D, Pane M, Kinali M, Allsop J, Nigro V, Sáenz A, Nascimbeni A, Fulizio L, Angelini C, Muntoni F.

Neuromuscul Disord. 2005 Feb;15(2):164-71. Epub 2004 Nov 26.

PMID:
15694138
4.

Genetic variability and clinical spectrum of Chinese patients with limb-girdle muscular dystrophy type 2A.

Luo SS, Xi JY, Zhu WH, Zhao CB, Lu JH, Lin J, Wang Y, Lu J, Qiao K.

Muscle Nerve. 2012 Nov;46(5):723-9. doi: 10.1002/mus.23381. Epub 2012 Aug 24.

PMID:
22926650
5.

New aspect of the research on limb-girdle muscular dystrophy 2A: a molecular biologic and biochemical approach to pathology.

Ono Y, Sorimachi H, Suzuki K.

Trends Cardiovasc Med. 1999 Jul;9(5):114-8. Review.

PMID:
10639725
6.

Mutations of CAPN3 in Korean patients with limb-girdle muscular dystrophy.

Shin JH, Kim HS, Lee CH, Kim CM, Park KH, Kim DS.

J Korean Med Sci. 2007 Jun;22(3):463-9.

7.

Screening of calpain-3 autolytic activity in LGMD muscle: a functional map of CAPN3 gene mutations.

Fanin M, Nascimbeni AC, Angelini C.

J Med Genet. 2007 Jan;44(1):38-43. Epub 2006 Sep 13.

8.

Limb-girdle muscular dystrophy type 2A resulting from homozygous G2338C transversion mutation in the calpain-3 gene.

Peddareddygari LR, Surgan V, Grewal RP.

J Clin Neuromuscul Dis. 2010 Dec;12(2):62-5. doi: 10.1097/CND.0b013e3181f3dbd3.

PMID:
21386772
9.

cDNA analyses of CAPN3 enhance mutation detection and reveal a low prevalence of LGMD2A patients in Denmark.

Duno M, Sveen ML, Schwartz M, Vissing J.

Eur J Hum Genet. 2008 Aug;16(8):935-40. doi: 10.1038/ejhg.2008.47. Epub 2008 Mar 12.

10.

Analysis of the UK diagnostic strategy for limb girdle muscular dystrophy 2A.

Groen EJ, Charlton R, Barresi R, Anderson LV, Eagle M, Hudson J, Koref MS, Straub V, Bushby KM.

Brain. 2007 Dec;130(Pt 12):3237-49.

11.

Functional defects of a muscle-specific calpain, p94, caused by mutations associated with limb-girdle muscular dystrophy type 2A.

Ono Y, Shimada H, Sorimachi H, Richard I, Saido TC, Beckmann JS, Ishiura S, Suzuki K.

J Biol Chem. 1998 Jul 3;273(27):17073-8.

12.

Molecular and cellular basis of calpainopathy (limb girdle muscular dystrophy type 2A).

Kramerova I, Beckmann JS, Spencer MJ.

Biochim Biophys Acta. 2007 Feb;1772(2):128-44. Epub 2006 Jul 15. Review.

13.

A third of LGMD2A biopsies have normal calpain 3 proteolytic activity as determined by an in vitro assay.

Milic A, Daniele N, Lochmüller H, Mora M, Comi GP, Moggio M, Noulet F, Walter MC, Morandi L, Poupiot J, Roudaut C, Bittner RE, Bartoli M, Richard I.

Neuromuscul Disord. 2007 Feb;17(2):148-56. Epub 2007 Jan 22.

PMID:
17236769
14.

Calpain 3 is important for muscle regeneration: evidence from patients with limb girdle muscular dystrophies.

Hauerslev S, Sveen ML, Duno M, Angelini C, Vissing J, Krag TO.

BMC Musculoskelet Disord. 2012 Mar 23;13:43. doi: 10.1186/1471-2474-13-43.

15.

Limb girdle muscular dystrophy type 2A in India: a study based on semi-quantitative protein analysis, with clinical and histopathological correlation.

Pathak P, Sharma MC, Sarkar C, Jha P, Suri V, Mohd H, Singh S, Bhatia R, Gulati S.

Neurol India. 2010 Jul-Aug;58(4):549-54. doi: 10.4103/0028-3886.68675.

16.

Epilepsy and limb girdle muscular dystrophy type 2A: double trouble, serendipitous finding or new phenotype?

Pizzanelli C, Mancuso M, Galli R, Choub A, Fanin M, Nascimbeni AC, Siciliano G, Murri L.

Neurol Sci. 2006 Jun;27(2):134-6.

PMID:
16816913
17.

A unique case of limb-girdle muscular dystrophy type 2A carrying novel compound heterozygous mutations in the human CAPN3 gene.

Matsubara E, Tsuchiya A, Minami N, Nishino I, Pappolla MA, Shoji M, Abe K.

Eur J Neurol. 2007 Jul;14(7):819-22.

PMID:
17594342
18.

Characterization of novel CAPN3 isoforms in white blood cells: an alternative approach for limb-girdle muscular dystrophy 2A diagnosis.

Blázquez L, Azpitarte M, Sáenz A, Goicoechea M, Otaegui D, Ferrer X, Illa I, Gutierrez-Rivas E, Vilchez JJ, López de Munain A.

Neurogenetics. 2008 Jul;9(3):173-82. doi: 10.1007/s10048-008-0129-1. Epub 2008 Jun 19.

PMID:
18563459
19.

Mutations in Czech LGMD2A patients revealed by analysis of calpain3 mRNA and their phenotypic outcome.

Chrobáková T, Hermanová M, Kroupová I, Vondrácek P, Maríková T, Mazanec R, Zámecník J, Stanek J, Havlová M, Fajkusová L.

Neuromuscul Disord. 2004 Oct;14(10):659-65.

PMID:
15351423
20.

Gene expression profiling in limb-girdle muscular dystrophy 2A.

Sáenz A, Azpitarte M, Armañanzas R, Leturcq F, Alzualde A, Inza I, García-Bragado F, De la Herran G, Corcuera J, Cabello A, Navarro C, De la Torre C, Gallardo E, Illa I, López de Munain A.

PLoS One. 2008;3(11):e3750. doi: 10.1371/journal.pone.0003750. Epub 2008 Nov 18.

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