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Items: 1 to 20 of 136

1.

Two siblings with limb-girdle muscular dystrophy type 2E responsive to deflazacort.

Wong-Kisiel LC, Kuntz NL.

Neuromuscul Disord. 2010 Feb;20(2):122-4. doi: 10.1016/j.nmd.2009.11.005. Epub 2010 Jan 13.

PMID:
20071171
2.

The first case of primary alpha-sarcoglycanopathy identified in Albania, in two siblings with homozygous alpha-sarcoglycan mutation.

Babameto-Laku A, Tabaku M, Tashko V, Cikuli M, Mokini V.

Genet Couns. 2011;22(4):377-83.

PMID:
22303798
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.

Genetic heterogeneity within a consanguineous family involving the LGMD 2D and the LGMD 2C genes.

Fendri K, Kefi M, Hentati F, Amouri R.

Neuromuscul Disord. 2006 May;16(5):316-20. Epub 2006 Apr 17.

PMID:
16616845
5.

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
6.

Phenotype and sarcoglycan expression in Tunisian LGMD 2C patients sharing the same del521-T mutation.

Kefi M, Amouri R, Driss A, Ben Hamida C, Ben Hamida M, Kunkel LM, Hentati F.

Neuromuscul Disord. 2003 Dec;13(10):779-87.

PMID:
14678800
7.

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
8.

Mutations in the delta-sarcoglycan gene are a rare cause of autosomal recessive limb-girdle muscular dystrophy (LGMD2).

Duggan DJ, Manchester D, Stears KP, Mathews DJ, Hart C, Hoffman EP.

Neurogenetics. 1997 May;1(1):49-58.

PMID:
10735275
9.

Eosinophilic myositis as presenting symptom in gamma-sarcoglycanopathy.

Baumeister SK, Todorovic S, Milić-Rasić V, Dekomien G, Lochmüller H, Walter MC.

Neuromuscul Disord. 2009 Feb;19(2):167-71. doi: 10.1016/j.nmd.2008.11.010. Epub 2009 Jan 23.

PMID:
19167890
10.

Lack of toxicity of alpha-sarcoglycan overexpression supports clinical gene transfer trial in LGMD2D.

Rodino-Klapac LR, Lee JS, Mulligan RC, Clark KR, Mendell JR.

Neurology. 2008 Jul 22;71(4):240-7. doi: 10.1212/01.wnl.0000306309.85301.e2. Epub 2008 Jun 4.

PMID:
18525034
11.

Genomic screening for beta-sarcoglycan gene mutations: missense mutations may cause severe limb-girdle muscular dystrophy type 2E (LGMD 2E).

Bönnemann CG, Passos-Bueno MR, McNally EM, Vainzof M, de Sá Moreira E, Marie SK, Pavanello RC, Noguchi S, Ozawa E, Zatz M, Kunkel LM.

Hum Mol Genet. 1996 Dec;5(12):1953-61.

PMID:
8968749
12.

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
13.

A phase I trial of adeno-associated virus serotype 1-γ-sarcoglycan gene therapy for limb girdle muscular dystrophy type 2C.

Herson S, Hentati F, Rigolet A, Behin A, Romero NB, Leturcq F, Laforêt P, Maisonobe T, Amouri R, Haddad H, Audit M, Montus M, Masurier C, Gjata B, Georger C, Cheraï M, Carlier P, Hogrel JY, Herson A, Allenbach Y, Lemoine FM, Klatzmann D, Sweeney HL, Mulligan RC, Eymard B, Caizergues D, Voït T, Benveniste O.

Brain. 2012 Feb;135(Pt 2):483-92. doi: 10.1093/brain/awr342. Epub 2012 Jan 11.

PMID:
22240777
14.

Myostatin blockade improves function but not histopathology in a murine model of limb-girdle muscular dystrophy 2C.

Bogdanovich S, McNally EM, Khurana TS.

Muscle Nerve. 2008 Mar;37(3):308-16.

PMID:
18041051
15.

Homozygous microdeletion of chromosome 4q11-q12 causes severe limb-girdle muscular dystrophy type 2E with joint hyperlaxity and contractures.

Kaindl AM, Jakubiczka S, Lücke T, Bartsch O, Weis J, Stoltenburg-Didinger G, Aksu F, Oexle K, Koehler K, Huebner A.

Hum Mutat. 2005 Sep;26(3):279-80.

PMID:
16088906
16.

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
17.

Abnormalities in alpha-, beta- and gamma-sarcoglycan in patients with limb-girdle muscular dystrophy.

Sewry CA, Taylor J, Anderson LV, Ozawa E, Pogue R, Piccolo F, Bushby K, Dubowitz V, Muntoni F.

Neuromuscul Disord. 1996 Dec;6(6):467-74.

PMID:
9027857
18.

Sarcolemmal alpha and gamma sarcoglycan protein deficiencies in Turkish siblings with a novel missense mutation in the alpha sarcoglycan gene.

Diniz G, Tosun Yildirim H, Akinci G, Hazan F, Ozturk A, Yararbas K, Tukun A.

Pediatr Neurol. 2014 Jun;50(6):640-7. doi: 10.1016/j.pediatrneurol.2013.12.024. Epub 2014 Jan 25.

PMID:
24742800
19.

Homozygous alpha-sarcoglycan mutation in two siblings: one asymptomatic and one steroid-responsive mild limb-girdle muscular dystrophy patient.

Angelini C, Fanin M, Menegazzo E, Freda MP, Duggan DJ, Hoffman EP.

Muscle Nerve. 1998 Jun;21(6):769-75.

PMID:
9585331
20.

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

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