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Similar articles for PubMed (Select 17021404)

1.

Limb-girdle muscular dystrophy in the United States.

Moore SA, Shilling CJ, Westra S, Wall C, Wicklund MP, Stolle C, Brown CA, Michele DE, Piccolo F, Winder TL, Stence A, Barresi R, King N, King W, Florence J, Campbell KP, Fenichel GM, Stedman HH, Kissel JT, Griggs RC, Pandya S, Mathews KD, Pestronk A, Serrano C, Darvish D, Mendell JR.

J Neuropathol Exp Neurol. 2006 Oct;65(10):995-1003.

PMID:
17021404
2.

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
3.

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
4.

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
5.

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.

6.

Limb-girdle muscular dystrophy: diagnostic evaluation, frequency and clues to pathogenesis.

Lo HP, Cooper ST, Evesson FJ, Seto JT, Chiotis M, Tay V, Compton AG, Cairns AG, Corbett A, MacArthur DG, Yang N, Reardon K, North KN.

Neuromuscul Disord. 2008 Jan;18(1):34-44. Epub 2007 Sep 25.

PMID:
17897828
7.

Limb-Girdle Muscular Dystrophy Overview.

Pegoraro E, Hoffman EP.

In: Pagon RA, Adam MP, Ardinger HH, Wallace SE, Amemiya A, Bean LJH, Bird TD, Dolan CR, Fong CT, Smith RJH, Stephens K, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2015.
2000 Jun 08 [updated 2012 Aug 30].

8.

Sarcoglycanopathies: can muscle immunoanalysis predict the genotype?

Klinge L, Dekomien G, Aboumousa A, Charlton R, Epplen JT, Barresi R, Bushby K, Straub V.

Neuromuscul Disord. 2008 Dec;18(12):934-41. doi: 10.1016/j.nmd.2008.08.003. Epub 2008 Nov 7.

PMID:
18996010
9.

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.

10.

Seven autosomal recessive limb-girdle muscular dystrophies in the Brazilian population: from LGMD2A to LGMD2G.

Passos-Bueno MR, Vainzof M, Moreira ES, Zatz M.

Am J Med Genet. 1999 Feb 19;82(5):392-8.

PMID:
10069710
11.

Clinical and molecular characterization of patients with limb-girdle muscular dystrophy type 2I.

Boito CA, Melacini P, Vianello A, Prandini P, Gavassini BF, Bagattin A, Siciliano G, Angelini C, Pegoraro E.

Arch Neurol. 2005 Dec;62(12):1894-9.

PMID:
16344347
12.

Limb-girdle muscular dystrophy in the Netherlands: gene defect identified in half the families.

van der Kooi AJ, Frankhuizen WS, Barth PG, Howeler CJ, Padberg GW, Spaans F, Wintzen AR, Wokke JH, van Ommen GJ, de Visser M, Bakker E, Ginjaar HB.

Neurology. 2007 Jun 12;68(24):2125-8.

PMID:
17562833
13.

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
14.

Analysis of calpain-3 protein in muscle biopsies of different muscular dystrophies from India.

Renjini R, Gayathri N, Nalini A, Srinivas Bharath MM.

Indian J Med Res. 2012 Jun;135(6):878-86.

15.

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
16.

Dysferlin protein analysis in limb-girdle muscular dystrophies.

Vainzof M, Anderson LV, McNally EM, Davis DB, Faulkner G, Valle G, Moreira ES, Pavanello RC, Passos-Bueno MR, Zatz M.

J Mol Neurosci. 2001 Aug;17(1):71-80.

PMID:
11665864
17.

DYSF mutation analysis in a group of Chinese patients with dysferlinopathy.

Zhao Z, Hu J, Sakiyama Y, Okamoto Y, Higuchi I, Li N, Shen H, Takashima H.

Clin Neurol Neurosurg. 2013 Aug;115(8):1234-7. doi: 10.1016/j.clineuro.2012.11.010. Epub 2012 Dec 14.

PMID:
23254335
18.

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
19.

Muscle protein analysis in the detection of heterozygotes for recessive limb girdle muscular dystrophy type 2B and 2E.

Fanin M, Nascimbeni AC, Angelini C.

Neuromuscul Disord. 2006 Nov;16(11):792-9. Epub 2006 Aug 23.

PMID:
16934466
20.

Molecular and muscle pathology in a series of caveolinopathy patients.

Fulizio L, Nascimbeni AC, Fanin M, Piluso G, Politano L, Nigro V, Angelini C.

Hum Mutat. 2005 Jan;25(1):82-9.

PMID:
15580566
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