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Items: 1 to 20 of 114

1.

Limb-girdle muscular dystrophy type 2a with mutation in CAPN3: the first report in Taiwan.

Wang CH, Liang WC, Minami N, Nishino I, Jong YJ.

Pediatr Neonatol. 2015 Feb;56(1):62-5. doi: 10.1016/j.pedneo.2013.01.018. Epub 2013 Mar 7.

2.

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
3.

Entire CAPN3 gene deletion in a patient with limb-girdle muscular dystrophy type 2A.

Jaka O, Azpitarte M, Paisán-Ruiz C, Zulaika M, Casas-Fraile L, Sanz R, Trevisiol N, Levy N, Bartoli M, Krahn M, López de Munain A, Sáenz A.

Muscle Nerve. 2014 Sep;50(3):448-53. doi: 10.1002/mus.24263. Epub 2014 Aug 5.

PMID:
24715573
4.

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
5.

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
6.

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
7.

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
8.

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.

9.

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
10.

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.

11.

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
12.

Limb girdle muscular dystrophy in a sibling pair with a homozygous Ser606Leu mutation in the alternatively spliced IS2 region of calpain 3.

Jenne DE, Kley RA, Vorgerd M, Schröder JM, Weis J, Reimann H, Albrecht B, Nürnberg P, Thiele H, Müller CR, Meng G, Witt CC, Labeit S.

Biol Chem. 2005 Jan;386(1):61-7.

PMID:
15843148
13.

[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
14.

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
15.

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.

16.

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
17.

Limb-girdle muscular dystrophy 2A.

Gallardo E, Saenz A, Illa I.

Handb Clin Neurol. 2011;101:97-110. doi: 10.1016/B978-0-08-045031-5.00006-2. Review.

PMID:
21496626
18.

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.

19.

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.

20.

Extensive scanning of the calpain-3 gene broadens the spectrum of LGMD2A phenotypes.

Piluso G, Politano L, Aurino S, Fanin M, Ricci E, Ventriglia VM, Belsito A, Totaro A, Saccone V, Topaloglu H, Nascimbeni AC, Fulizio L, Broccolini A, Canki-Klain N, Comi LI, Nigro G, Angelini C, Nigro V.

J Med Genet. 2005 Sep;42(9):686-93.

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