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Items: 1 to 20 of 165

1.

Asian patients with limb girdle muscular dystrophy 2I (LGMD2I).

Hong D, Zhang W, Wang W, Wang Z, Yuan Y.

J Clin Neurosci. 2011 Apr;18(4):494-9. doi: 10.1016/j.jocn.2010.08.010. Epub 2011 Feb 5.

PMID:
21296577
2.

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
3.

A novel FKRP gene mutation in a Taiwanese patient with limb-girdle muscular dystrophy 2I.

Lin YC, Murakami T, Hayashi YK, Nishino I, Nonaka I, Yuo CY, Jong YJ.

Brain Dev. 2007 May;29(4):234-8. Epub 2006 Oct 20.

PMID:
17055682
4.

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.

5.

LGMD 2I due to the common mutation 826C>A in the FKRP gene presenting as myopathy with vacuoles and paired-helical filaments.

Reilich P, Petersen JA, Vielhaber S, Mawrin C, Schneider-Gold C, Sommer C, Reiners K, Deschauer M, Pongratz D, Lochmüller H, Walter MC.

Acta Myol. 2006 Oct;25(2):73-6.

PMID:
18593008
6.

Clinical and mutational spectrum of limb-girdle muscular dystrophy type 2I in 11 French patients.

Bourteel H, Vermersch P, Cuisset JM, Maurage CA, Laforet P, Richard P, Stojkovic T.

J Neurol Neurosurg Psychiatry. 2009 Dec;80(12):1405-8. doi: 10.1136/jnnp.2007.141804.

PMID:
19917824
7.

High prevalence and phenotype-genotype correlations of limb girdle muscular dystrophy type 2I in Denmark.

Sveen ML, Schwartz M, Vissing J.

Ann Neurol. 2006 May;59(5):808-15.

PMID:
16634037
8.

Abnormalities in alpha-dystroglycan expression in MDC1C and LGMD2I muscular dystrophies.

Brown SC, Torelli S, Brockington M, Yuva Y, Jimenez C, Feng L, Anderson L, Ugo I, Kroger S, Bushby K, Voit T, Sewry C, Muntoni F.

Am J Pathol. 2004 Feb;164(2):727-37.

9.

The phenotype of limb-girdle muscular dystrophy type 2I.

Poppe M, Cree L, Bourke J, Eagle M, Anderson LV, Birchall D, Brockington M, Buddles M, Busby M, Muntoni F, Wills A, Bushby K.

Neurology. 2003 Apr 22;60(8):1246-51.

PMID:
12707425
10.

[Phenotypic aspects of FKRP-linked muscular dystrophy type 2I in a series of eleven patients].

Bourteel H, Stojkovic T, Cuisset JM, Maurage CA, Laforet P, Richard P, Vermersch P.

Rev Neurol (Paris). 2007 Feb;163(2):189-96. French.

PMID:
17351538
11.

Inflammation and response to steroid treatment in limb-girdle muscular dystrophy 2I.

Darin N, Kroksmark AK, Ahlander AC, Moslemi AR, Oldfors A, Tulinius M.

Eur J Paediatr Neurol. 2007 Nov;11(6):353-7. Epub 2007 Apr 18.

PMID:
17446099
12.

The most common mutation in FKRP causing limb girdle muscular dystrophy type 2I (LGMD2I) may have occurred only once and is present in Hutterites and other populations.

Frosk P, Greenberg CR, Tennese AA, Lamont R, Nylen E, Hirst C, Frappier D, Roslin NM, Zaik M, Bushby K, Straub V, Zatz M, de Paula F, Morgan K, Fujiwara TM, Wrogemann K.

Hum Mutat. 2005 Jan;25(1):38-44.

PMID:
15580560
13.

[The clinical spectrum of limb-girdle muscular dystrophies type 2I in cases of a mutation in the "fukutin-related- protein"-gene].

Krasnianski M, Neudecker S, Deschauer M, Zierz S.

Nervenarzt. 2004 Aug;75(8):770-5. German.

PMID:
15221067
14.

Biochemical and ultrastructural evidence of endoplasmic reticulum stress in LGMD2I.

Boito CA, Fanin M, Gavassini BF, Cenacchi G, Angelini C, Pegoraro E.

Virchows Arch. 2007 Dec;451(6):1047-55. Epub 2007 Oct 20.

PMID:
17952692
15.

Prevalence, mutation spectrum and phenotypic variability in Norwegian patients with Limb Girdle Muscular Dystrophy 2I.

Stensland E, Lindal S, Jonsrud C, Torbergsen T, Bindoff LA, Rasmussen M, Dahl A, Thyssen F, Nilssen Ø.

Neuromuscul Disord. 2011 Jan;21(1):41-6. doi: 10.1016/j.nmd.2010.08.008. Epub 2010 Oct 18.

PMID:
20961759
16.

FKRP gene mutations cause congenital muscular dystrophy, mental retardation, and cerebellar cysts.

Topaloglu H, Brockington M, Yuva Y, Talim B, Haliloglu G, Blake D, Torelli S, Brown SC, Muntoni F.

Neurology. 2003 Mar 25;60(6):988-92.

PMID:
12654965
17.

Limb-girdle muscular dystrophy 2I: phenotypic variability within a large consanguineous Bedouin family associated with a novel FKRP mutation.

Harel T, Goldberg Y, Shalev SA, Chervinski I, Ofir R, Birk OS.

Eur J Hum Genet. 2004 Jan;12(1):38-43.

18.

Muscle protein alterations in LGMD2I patients with different mutations in the Fukutin-related protein gene.

Yamamoto LU, Velloso FJ, Lima BL, Fogaça LL, de Paula F, Vieira NM, Zatz M, Vainzof M.

J Histochem Cytochem. 2008 Nov;56(11):995-1001. doi: 10.1369/jhc.2008.951772. Epub 2008 Jul 21.

19.

Episodes of exercise-induced dark urine and myalgia in LGMD 2I.

Lindberg C, Sixt C, Oldfors A.

Acta Neurol Scand. 2012 Apr;125(4):285-7. doi: 10.1111/j.1600-0404.2011.01608.x. Epub 2011 Oct 27.

PMID:
22029705
20.

Limb-girdle muscular dystrophy type 2I is not rare in Taiwan.

Liang WC, Hayashi YK, Ogawa M, Wang CH, Huang WT, Nishino I, Jong YJ.

Neuromuscul Disord. 2013 Aug;23(8):675-81. doi: 10.1016/j.nmd.2013.05.010. Epub 2013 Jun 22.

PMID:
23800702
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