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Results: 1 to 20 of 110

1.

Clinical and molecular characterization of limb-girdle muscular dystrophy due to LAMA2 mutations.

Gavassini BF, Carboni N, Nielsen JE, Danielsen ER, Thomsen C, Svenstrup K, Bello L, Maioli MA, Marrosu G, Ticca AF, Mura M, Marrosu MG, Soraru G, Angelini C, Vissing J, Pegoraro E.

Muscle Nerve. 2011 Nov;44(5):703-9. doi: 10.1002/mus.22132. Epub 2011 Sep 26.

PMID:
21953594
[PubMed - indexed for MEDLINE]
2.

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
3.

POMT2 gene mutation in limb-girdle muscular dystrophy with inflammatory changes.

Biancheri R, Falace A, Tessa A, Pedemonte M, Scapolan S, Cassandrini D, Aiello C, Rossi A, Broda P, Zara F, Santorelli FM, Minetti C, Bruno C.

Biochem Biophys Res Commun. 2007 Nov 30;363(4):1033-7. Epub 2007 Sep 25.

PMID:
17923109
[PubMed - indexed for MEDLINE]
4.

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
[PubMed - indexed for MEDLINE]
5.

A splice site mutation in laminin-α2 results in a severe muscular dystrophy and growth abnormalities in zebrafish.

Gupta VA, Kawahara G, Myers JA, Chen AT, Hall TE, Manzini MC, Currie PD, Zhou Y, Zon LI, Kunkel LM, Beggs AH.

PLoS One. 2012;7(8):e43794. doi: 10.1371/journal.pone.0043794. Epub 2012 Aug 27.

PMID:
22952766
[PubMed - indexed for MEDLINE]
Free PMC Article
6.

The expanding phenotype of laminin alpha2 chain (merosin) abnormalities: case series and review.

Jones KJ, Morgan G, Johnston H, Tobias V, Ouvrier RA, Wilkinson I, North KN.

J Med Genet. 2001 Oct;38(10):649-57. Review.

PMID:
11584042
[PubMed - indexed for MEDLINE]
Free PMC Article
7.

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
8.

Laminin alpha2 muscular dystrophy: genotype/phenotype studies of 22 patients.

Pegoraro E, Marks H, Garcia CA, Crawford T, Mancias P, Connolly AM, Fanin M, Martinello F, Trevisan CP, Angelini C, Stella A, Scavina M, Munk RL, Servidei S, Bönnemann CC, Bertorini T, Acsadi G, Thompson CE, Gagnon D, Hoganson G, Carver V, Zimmerman RA, Hoffman EP.

Neurology. 1998 Jul;51(1):101-10.

PMID:
9674786
[PubMed - indexed for MEDLINE]
9.

LAMA2 gene analysis in congenital muscular dystrophy: new mutations, prenatal diagnosis, and founder effect.

Di Blasi C, Piga D, Brioschi P, Moroni I, Pini A, Ruggieri A, Zanotti S, Uziel G, Jarre L, Della Giustina E, Scuderi C, Jonsrud C, Mantegazza R, Morandi L, Mora M.

Arch Neurol. 2005 Oct;62(10):1582-6.

PMID:
16216942
[PubMed - indexed for MEDLINE]
10.

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]
11.

Dystrophinopathy in girls with limb girdle muscular dystrophy phenotype.

Golla S, Agadi S, Burns DK, Marks W, Dev Batish S, del Gaudio D, Iannaccone ST.

J Clin Neuromuscul Dis. 2010 Jun;11(4):203-8. doi: 10.1097/CND.0b013e3181c7f18f.

PMID:
20516809
[PubMed - indexed for MEDLINE]
12.

Limb-girdle muscular dystrophy due to emerin gene mutations.

Ura S, Hayashi YK, Goto K, Astejada MN, Murakami T, Nagato M, Ohta S, Daimon Y, Takekawa H, Hirata K, Nonaka I, Noguchi S, Nishino I.

Arch Neurol. 2007 Jul;64(7):1038-41.

PMID:
17620497
[PubMed - indexed for MEDLINE]
13.

Novel splice site mutation in the caveolin-3 gene leading to autosomal recessive limb girdle muscular dystrophy.

Müller JS, Piko H, Schoser BG, Schlotter-Weigel B, Reilich P, Gürster S, Born C, Karcagi V, Pongratz D, Lochmüller H, Walter MC.

Neuromuscul Disord. 2006 Jul;16(7):432-6. Epub 2006 May 26.

PMID:
16730439
[PubMed - indexed for MEDLINE]
14.

Laminin alpha 2-chain gene mutations in two siblings presenting with limb-girdle muscular dystrophy.

Naom I, D'Alessandro M, Sewry CA, Philpot J, Manzur AY, Dubowitz V, Muntoni F.

Neuromuscul Disord. 1998 Oct;8(7):495-501.

PMID:
9829280
[PubMed - indexed for MEDLINE]
15.

Mild congenital muscular dystrophy in two patients with an internally deleted laminin alpha2-chain.

Allamand V, Sunada Y, Salih MA, Straub V, Ozo CO, Al-Turaiki MH, Akbar M, Kolo T, Colognato H, Zhang X, Sorokin LM, Yurchenco PD, Tryggvason K, Campbell KP.

Hum Mol Genet. 1997 May;6(5):747-52.

PMID:
9158149
[PubMed - indexed for MEDLINE]
Free Article
16.

Novel mutations in the Anoctamin 5 gene (ANO5) associated with limb-girdle muscular dystrophy 2L.

Little AA, McKeever PE, Gruis KL.

Muscle Nerve. 2013 Feb;47(2):287-91. doi: 10.1002/mus.23542. Epub 2012 Nov 21.

PMID:
23169617
[PubMed - indexed for MEDLINE]
17.

Late-onset Pompe disease is prevalent in unclassified limb-girdle muscular dystrophies.

Preisler N, Lukacs Z, Vinge L, Madsen KL, Husu E, Hansen RS, Duno M, Andersen H, Laub M, Vissing J.

Mol Genet Metab. 2013 Nov;110(3):287-9. doi: 10.1016/j.ymgme.2013.08.005. Epub 2013 Aug 15.

PMID:
24011652
[PubMed - indexed for MEDLINE]
18.

Clinical and molecular study in congenital muscular dystrophy with partial laminin alpha 2 (LAMA2) deficiency.

Tezak Z, Prandini P, Boscaro M, Marin A, Devaney J, Marino M, Fanin M, Trevisan CP, Park J, Tyson W, Finkel R, Garcia C, Angelini C, Hoffman EP, Pegoraro E.

Hum Mutat. 2003 Feb;21(2):103-11.

PMID:
12552556
[PubMed - indexed for MEDLINE]
19.

Mutations in the fukutin-related protein gene (FKRP) identify limb girdle muscular dystrophy 2I as a milder allelic variant of congenital muscular dystrophy MDC1C.

Brockington M, Yuva Y, Prandini P, Brown SC, Torelli S, Benson MA, Herrmann R, Anderson LV, Bashir R, Burgunder JM, Fallet S, Romero N, Fardeau M, Straub V, Storey G, Pollitt C, Richard I, Sewry CA, Bushby K, Voit T, Blake DJ, Muntoni F.

Hum Mol Genet. 2001 Dec 1;10(25):2851-9.

PMID:
11741828
[PubMed - indexed for MEDLINE]
Free Article
20.

Limb-girdle muscular dystrophies: heterogeneity of clinical phenotypes and pathogenetic mechanisms.

Angelini C.

Acta Myol. 2004 Dec;23(3):130-6. Review.

PMID:
15938568
[PubMed - indexed for MEDLINE]

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