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Similar articles for PubMed (Select 22622166)

1.

Late-onset axial myopathy and camptocormia in a calpainopathy carrier.

Liewluck T, Goodman BP.

J Clin Neuromuscul Dis. 2012 Jun;13(4):209-13. doi: 10.1097/CND.0b013e3182461a9c.

PMID:
22622166
2.

Bent spine syndrome: a phenotype of dysferlinopathy or a symptomatic DYSF gene mutation carrier.

Gáti I, Danielsson O, Gunnarsson C, Vrethem M, Häggqvist B, Fredriksson BA, Landtblom AM.

Eur Neurol. 2012;67(5):300-2. doi: 10.1159/000336265. Epub 2012 Apr 17. No abstract available.

3.

A family with McLeod syndrome and calpainopathy with clinically overlapping diseases.

Starling A, Schlesinger D, Kok F, Passos-Bueno MR, Vainzof M, Zatz M.

Neurology. 2005 Dec 13;65(11):1832-3.

PMID:
16344536
4.

Camptocormia phenotype of FSHD: a clinical and MRI study on six patients.

Jordan B, Eger K, Koesling S, Zierz S.

J Neurol. 2011 May;258(5):866-73. doi: 10.1007/s00415-010-5858-z. Epub 2010 Dec 17.

PMID:
21165637
5.

Camptocormia as presenting sign in myofibrillar myopathy.

Renard D, Castelnovo G, Fernandez C, De Paula AM, Penttilä S, Suominen T, Udd B.

Neuromuscul Disord. 2012 Nov;22(11):987-9. doi: 10.1016/j.nmd.2012.06.004. Epub 2012 Jun 28.

PMID:
22749474
6.

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.

7.

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.

8.

Fatty involution of the gluteus medius muscles: a late-onset girdle myopathy?

Lassoued S, Laroche M.

Semin Arthritis Rheum. 2011 Dec;41(3):477-81. doi: 10.1016/j.semarthrit.2011.02.004. Epub 2011 May 18.

PMID:
21592544
9.

Camptocormia as a late presentation in a manifesting carrier of duchenne muscular dystrophy.

Findlay AR, Lewis S, Sahenk Z, Flanigan KM.

Muscle Nerve. 2013 Jan;47(1):124-7. doi: 10.1002/mus.23497. Epub 2012 Nov 21.

PMID:
23169483
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.

[Case of LGMD2A (calpainopathy) clinically presenting as Miyoshi distal myopathy].

Shirafuji T, Otsuka Y, Kobessho H, Minami N, Hayashi Y, Nishino I, Kanda F.

Rinsho Shinkeigaku. 2008 Sep;48(9):651-5. Japanese.

PMID:
19048948
12.

Axial myopathy--an unrecognised entity.

Mahjneh I, Marconi G, Paetau A, Saarinen A, Salmi T, Somer H.

J Neurol. 2002 Jun;249(6):730-4. Erratum in: J Neurol 2002 Sep;249(9):1335.

PMID:
12111307
13.

Myopathy with lobulated muscle fibers: evidence for heterogeneous etiology and clinical presentation.

Figarella-Branger D, El-Dassouki M, Saenz A, Cobo AM, Malzac P, Tong S, Cassotte E, Azulay JP, Pouget J, Pellissier JF.

Neuromuscul Disord. 2002 Jan;12(1):4-12.

PMID:
11731278
14.

[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
15.

Camptocormia in a patient with Parkinson disease and a myopathy with nemaline rods.

Ozer F, Ozturk O, Meral H, Serdaroglu P, Yayla V.

Am J Phys Med Rehabil. 2007 Jan;86(1):3-6.

PMID:
17304682
16.

Autosomal-dominant distal myopathy with a myotilin S55F mutation: sorting out the phenotype.

Berciano J, Gallardo E, Domínguez-Perles R, Gallardo E, García A, García-Barredo R, Combarros O, Infante J, Illa I.

J Neurol Neurosurg Psychiatry. 2008 Feb;79(2):205-8. Epub 2007 Aug 13.

PMID:
17698502
17.

Calpainopathy: how broad is the spectrum of clinical variability?

Starling A, de Paula F, Silva H, Vainzof M, Zatz M.

J Mol Neurosci. 2003;21(3):233-6.

PMID:
14645990
18.

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
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.

20.

Myopathy phenotype of transgenic mice expressing active site-mutated inactive p94 skeletal muscle-specific calpain, the gene product responsible for limb girdle muscular dystrophy type 2A.

Tagawa K, Taya C, Hayashi Y, Nakagawa M, Ono Y, Fukuda R, Karasuyama H, Toyama-Sorimachi N, Katsui Y, Hata S, Ishiura S, Nonaka I, Seyama Y, Arahata K, Yonekawa H, Sorimachi H, Suzuki K.

Hum Mol Genet. 2000 May 22;9(9):1393-402.

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