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Items: 1 to 20 of 195

1.

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
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.

3.

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
4.

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
5.

Analysis of histopathologic and molecular pathologic findings in Czech LGMD2A patients.

Hermanová M, Zapletalová E, Sedlácková J, Chrobáková T, Letocha O, Kroupová I, Zámecník J, Vondrácek P, Mazanec R, Maríková T, Vohánka S, Fajkusová L.

Muscle Nerve. 2006 Mar;33(3):424-32.

PMID:
16372320
6.

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.

7.

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.

8.

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.

9.

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
10.

Protein and genetic diagnosis of limb girdle muscular dystrophy type 2A: The yield and the pitfalls.

Fanin M, Angelini C.

Muscle Nerve. 2015 Aug;52(2):163-73. doi: 10.1002/mus.24682. Epub 2015 May 29. Review.

PMID:
25900067
11.

[Diagnostic procedure of limb girdle muscular dystrophies 2A or calpainopathies: French cohort from a neuromuscular center (Bordeaux)].

Perez F, Vital A, Martin-Negrier ML, Ferrer X, Sole G.

Rev Neurol (Paris). 2010 May;166(5):502-8. doi: 10.1016/j.neurol.2009.10.015. Epub 2009 Dec 30. French.

PMID:
20044116
12.

Robust genotyping tool for autosomal recessive type of limb-girdle muscular dystrophies.

Inashkina I, Jankevics E, Stavusis J, Vasiljeva I, Viksne K, Micule I, Strautmanis J, Naudina MS, Cimbalistiene L, Kucinskas V, Krumina A, Utkus A, Burnyte B, Matuleviciene A, Lace B.

BMC Musculoskelet Disord. 2016 May 4;17:200. doi: 10.1186/s12891-016-1058-z.

13.

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.

14.

A heterozygous 21-bp deletion in CAPN3 causes dominantly inherited limb girdle muscular dystrophy.

Vissing J, Barresi R, Witting N, Van Ghelue M, Gammelgaard L, Bindoff LA, Straub V, Lochmüller H, Hudson J, Wahl CM, Arnardottir S, Dahlbom K, Jonsrud C, Duno M.

Brain. 2016 Aug;139(Pt 8):2154-63. doi: 10.1093/brain/aww133. Epub 2016 Jun 3.

PMID:
27259757
15.

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
16.

Limb-Girdle Muscular Dystrophy Type 2A Resulting From c.C479G and c.G1818A Mutations in the Calpain-3 Gene.

Ramos E, Pardo S, Mas Rodríguez MF, Vélez J.

J Clin Neuromuscul Dis. 2015 Dec;17(2):59-62. doi: 10.1097/CND.0000000000000097.

PMID:
26583491
17.

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
18.

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
19.

Autosomal recessive limb-girdle muscular dystrophies in the Czech Republic.

Stehlíková K, Skálová D, Zídková J, Mrázová L, Vondráček P, Mazanec R, Voháňka S, Haberlová J, Hermanová M, Zámečník J, Souček O, Ošlejšková H, Dvořáčková N, Solařová P, Fajkusová L.

BMC Neurol. 2014 Aug 19;14:154. doi: 10.1186/s12883-014-0154-7.

20.

Quantitative analysis of CAPN3 transcripts in LGMD2A patients: involvement of nonsense-mediated mRNA decay.

Stehlíková K, Zapletalová E, Sedlácková J, Hermanová M, Vondrácek P, Maríková T, Mazanec R, Zámecník J, Vohánka S, Fajkus J, Fajkusová L.

Neuromuscul Disord. 2007 Feb;17(2):143-7. Epub 2006 Dec 8.

PMID:
17157502

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