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Results: 1 to 20 of 101

1.

Ancestral founder mutations in calpain-3 in the Indian Agarwal community: historical, clinical, and molecular perspective.

Ankala A, Kohn JN, Dastur R, Gaitonde P, Khadilkar SV, Hegde MR.

Muscle Nerve. 2013 Jun;47(6):931-7. doi: 10.1002/mus.23763. Epub 2013 May 11.

PMID:
23666804
[PubMed - indexed for MEDLINE]
2.

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.

PMID:
20739790
[PubMed - indexed for MEDLINE]
Free Article
3.

Frequency of LGMD gene mutations in Italian patients with distinct clinical phenotypes.

Fanin M, Nascimbeni AC, Aurino S, Tasca E, Pegoraro E, Nigro V, Angelini C.

Neurology. 2009 Apr 21;72(16):1432-5. doi: 10.1212/WNL.0b013e3181a1885e.

PMID:
19380703
[PubMed - indexed for MEDLINE]
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
[PubMed - indexed for MEDLINE]
5.

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.

PMID:
17596655
[PubMed - indexed for MEDLINE]
Free PMC Article
6.

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.

PMID:
15689361
[PubMed - indexed for MEDLINE]
Free Article
7.

[Clinical-genetic characteristics of limb girdle-muscular dystrophy type 2A].

Dadali EL, Shagina OA, Ryzhkova OP, Rudenskaia GE, Fedotov VP, Poliakov AV.

Zh Nevrol Psikhiatr Im S S Korsakova. 2010;110(4):79-83. Russian.

PMID:
20517216
[PubMed - indexed for MEDLINE]
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
[PubMed - indexed for MEDLINE]
9.

Muscle pathology in 31 patients with calpain 3 gene mutations..

Nadaj-Pakleza AA, Dorobek M, Nestorowicz K, Ryniewicz B, Szmidt-Sałkowska E, Kamińska AM.

Neurol Neurochir Pol. 2013 May-Jun;47(3):214-22.

PMID:
23821418
[PubMed - indexed for MEDLINE]
10.

A large deletion and novel point mutations in the calpain 3 gene (CAPN3) in Bulgarian LGMD2A patients.

Todorova A, Georgieva B, Tournev I, Todorov T, Bogdanova N, Mitev V, Mueller CR, Kremensky I, Horst J.

Neurogenetics. 2007 Aug;8(3):225-9. Epub 2007 Feb 23.

PMID:
17318636
[PubMed - indexed for MEDLINE]
11.

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.

PMID:
16971480
[PubMed - indexed for MEDLINE]
Free PMC Article
12.

Frequency of calpain-3 c.550delA mutation in limb girdle muscular dystrophy type 2 and isolated hyperCKemia in German patients.

Hanisch F, Müller CR, Grimm D, Xue L, Traufeller K, Merkenschlager A, Zierz S, Deschauer M.

Clin Neuropathol. 2007 Jul-Aug;26(4):157-63.

PMID:
17702496
[PubMed - indexed for MEDLINE]
13.

Clinical, molecular, and protein correlations in a large sample of genetically diagnosed Italian limb girdle muscular dystrophy patients.

Guglieri M, Magri F, D'Angelo MG, Prelle A, Morandi L, Rodolico C, Cagliani R, Mora M, Fortunato F, Bordoni A, Del Bo R, Ghezzi S, Pagliarani S, Lucchiari S, Salani S, Zecca C, Lamperti C, Ronchi D, Aguennouz M, Ciscato P, Di Blasi C, Ruggieri A, Moroni I, Turconi A, Toscano A, Moggio M, Bresolin N, Comi GP.

Hum Mutat. 2008 Feb;29(2):258-66.

PMID:
17994539
[PubMed - indexed for MEDLINE]
14.

How to tackle the diagnosis of limb-girdle muscular dystrophy 2A.

Fanin M, Nascimbeni AC, Tasca E, Angelini C.

Eur J Hum Genet. 2009 May;17(5):598-603. doi: 10.1038/ejhg.2008.193. Epub 2008 Oct 15.

PMID:
18854869
[PubMed - indexed for MEDLINE]
Free PMC Article
15.

Calpain-3 mutations in Turkey.

Balci B, Aurino S, Haliloglu G, Talim B, Erdem S, Akcören Z, Tan E, Caglar M, Richard I, Nigro V, Topaloglu H, Dincer P.

Eur J Pediatr. 2006 May;165(5):293-8. Epub 2006 Jan 13.

PMID:
16411092
[PubMed - indexed for MEDLINE]
16.

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.

PMID:
18055493
[PubMed - indexed for MEDLINE]
Free Article
17.

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
[PubMed - indexed for MEDLINE]
18.

SNP-array based whole genome homozygosity mapping: a quick and powerful tool to achieve an accurate diagnosis in LGMD2 patients.

Papić L, Fischer D, Trajanoski S, Höftberger R, Fischer C, Ströbel T, Schmidt WM, Bittner RE, Schabhüttl M, Gruber K, Pieber TR, Janecke AR, Auer-Grumbach M.

Eur J Med Genet. 2011 May-Jun;54(3):214-9. doi: 10.1016/j.ejmg.2010.12.003. Epub 2010 Dec 21.

PMID:
21172462
[PubMed - indexed for MEDLINE]
Free PMC Article
19.

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.

PMID:
18337726
[PubMed - indexed for MEDLINE]
Free Article
20.

Mutations in LAMA2 and CAPN3 genes associated with genetic and phenotypic heterogeneities within a single consanguineous family involving both congenital and progressive muscular dystrophies.

Hadj Salem I, Kamoun F, Louhichi N, Rouis S, Mziou M, Fendri-Kriaa N, Makni-Ayadi F, Triki C, Fakhfakh F.

Biosci Rep. 2011 Apr;31(2):125-35. doi: 10.1042/BSR20100026.

PMID:
20477750
[PubMed - indexed for MEDLINE]
Free Article

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