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Items: 1 to 20 of 113

1.

Phenotypic and immunohistochemical characterization of sarcoglycanopathies.

Ferreira AF, Carvalho MS, Resende MB, Wakamatsu A, Reed UC, Marie SK.

Clinics (Sao Paulo). 2011;66(10):1713-9.

2.

Sarcoglycanopathies: a clinico-pathological study.

Meena AK, Sreenivas D, Sundaram C, Rajasekhar R, Sita JS, Borgohain R, Suvarna A, Kaul S.

Neurol India. 2007 Apr-Jun;55(2):117-21.

3.

Sarcoglycanopathies: a clinicopathological study of 13 cases [corrected].

Sharma MC, Mannan R, Singh NG, Gulati S, Kalra V, Sarkar C.

Neurol India. 2004 Dec;52(4):446-9. Erratum in: Neurol India. 2005 Mar;53(1):98.

4.

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
5.

Evaluation of sarcoglycans, vinculin-talin-integrin system and filamin2 in alpha- and gamma-sarcoglycanopathy: an immunohistochemical study.

Anastasi G, Cutroneo G, Trimarchi F, Santoro G, Bruschetta D, Bramanti P, Pisani A, Favaloro A.

Int J Mol Med. 2004 Dec;14(6):989-99.

PMID:
15547664
6.

Sarcoglycanopathies in Dutch patients with autosomal recessive limb girdle muscular dystrophy.

Ginjaar HB, van der Kooi AJ, Ceelie H, Kneppers AL, van Meegen M, Barth PG, Busch HF, Wokke JH, Anderson LV, Bönnemann CG, Jeanpierre M, Bolhuis PA, Moorman AF, de Visser M, Bakker E, Ommen GJ.

J Neurol. 2000 Jul;247(7):524-9.

PMID:
10993494
7.

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.

PMID:
24742800
8.

Immunohistochemistry of sarcolemmal membrane-associated proteins in formalin-fixed and paraffin-embedded skeletal muscle tissue: a promising tool for the diagnostic evaluation of common muscular dystrophies.

Suriyonplengsaeng C, Dejthevaporn C, Khongkhatithum C, Sanpapant S, Tubthong N, Pinpradap K, Srinark N, Waisayarat J.

Diagn Pathol. 2017 Feb 20;12(1):19. doi: 10.1186/s13000-017-0610-y.

9.

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
10.

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
11.

A novel mutation in alpha sarcoglycan gene in an Iranian family with limb girdle muscular dystrophy 2D.

Mojbafan M, Nilipour Y, Tonekaboni SH, Tavakkoly-Bazzaz J, Zeinali S.

Neurol Res. 2016 Mar;38(3):220-3. doi: 10.1080/01616412.2015.1105625.

PMID:
27093116
12.

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.

PMID:
18996010
13.

Autosomal recessive muscular dystrophy and mutations of the sarcoglycan complex.

Duggan DJ, Hoffman EP.

Neuromuscul Disord. 1996 Dec;6(6):475-82.

PMID:
9027858
14.

Spectrum of mutations in sarcoglycan genes in the Mumbai region of western India: high prevalence of 525del T.

Khadilkar SV, Singh RK, Hegde M, Urtizberea A, Love DR, Chong B.

Neurol India. 2009 Jul-Aug;57(4):406-10. doi: 10.4103/0028-3886.55603.

15.

Beta-sarcoglycanopathy (LGMD 2E) in a Spanish family.

Rivas E, Teijeira S, dos Santos MR, Porrit I, Leturcq F, Fernandez JM, Navarro C.

Acta Myol. 2004 Dec;23(3):159-62.

PMID:
15938574
16.

Sarcoglycanopathies are responsible for 68% of severe autosomal recessive limb-girdle muscular dystrophy in the Brazilian population.

Vainzof M, Passos-Bueno MR, Pavanello RC, Marie SK, Oliveira AS, Zatz M.

J Neurol Sci. 1999 Mar 15;164(1):44-9.

PMID:
10385046
17.

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.

PMID:
22240777
18.

Histopathological and genetic features of patients with limb girdle muscular dystrophy type 2C.

Dınız G, Hazan F, Yildirim HT, Unalp A, Polat M, Serdaroğlu G, Güzel O, Bağ O, Seçıl Y, Ozgönül F, Türe S, Akhan G, Tükün A.

Turk Patoloji Derg. 2014;30(2):111-7. doi: 10.5146/tjpath.2014.01239.

19.

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
20.

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.

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