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Items: 1 to 20 of 322

1.

A biochemical, genetic, and clinical survey of autosomal recessive limb girdle muscular dystrophies in Turkey.

Dinçer P, Leturcq F, Richard I, Piccolo F, Yalnizoglu D, de Toma C, Akçören Z, Broux O, Deburgrave N, Brenguier L, Roudaut C, Urtizberea JA, Jung D, Tan E, Jeanpierre M, Campbell KP, Kaplan JC, Beckmann JS, Topaloglu H.

Ann Neurol. 1997 Aug;42(2):222-9.

PMID:
9266733
2.

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
3.

Main clinical features of the three mapped autosomal recessive limb-girdle muscular dystrophies and estimated proportion of each form in 13 Brazilian families.

Passos-Bueno MR, Moreira ES, Marie SK, Bashir R, Vasquez L, Love DR, Vainzof M, Iughetti P, Oliveira JR, Bakker E, Strachan T, Bushby K, Zatz M.

J Med Genet. 1996 Feb;33(2):97-102.

4.

A common missense mutation in the adhalin gene in three unrelated Brazilian families with a relatively mild form of autosomal recessive limb-girdle muscular dystrophy.

Bueno MR, Moreira ES, Vainzof M, Chamberlain J, Marie SK, Pereira L, Akiyama J, Roberds SL, Campbell KP, Zatz M.

Hum Mol Genet. 1995 Jul;4(7):1163-7.

PMID:
8528203
6.

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
7.

Mutational diversity and hot spots in the alpha-sarcoglycan gene in autosomal recessive muscular dystrophy (LGMD2D).

Carrié A, Piccolo F, Leturcq F, de Toma C, Azibi K, Beldjord C, Vallat JM, Merlini L, Voit T, Sewry C, Urtizberea JA, Romero N, Tomé FM, Fardeau M, Sunada Y, Campbell KP, Kaplan JC, Jeanpierre M.

J Med Genet. 1997 Jun;34(6):470-5.

8.

Understanding the heterogeneity of the limb-girdle muscular dystrophies.

Bushby K.

Biochem Soc Trans. 1996 May;24(2):489-96. Review. No abstract available.

PMID:
8736790
9.

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
10.

Characterization of delta-sarcoglycan, a novel component of the oligomeric sarcoglycan complex involved in limb-girdle muscular dystrophy.

Jung D, Duclos F, Apostol B, Straub V, Lee JC, Allamand V, Venzke DP, Sunada Y, Moomaw CR, Leveille CJ, Slaughter CA, Crawford TO, McPherson JD, Campbell KP.

J Biol Chem. 1996 Dec 13;271(50):32321-9.

11.

The seventh form of autosomal recessive limb-girdle muscular dystrophy is mapped to 17q11-12.

Moreira ES, Vainzof M, Marie SK, Sertié AL, Zatz M, Passos-Bueno MR.

Am J Hum Genet. 1997 Jul;61(1):151-9.

12.

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
13.

[Gamma-sarcoglycanopathy: clinico-pathological and genetic study of 11 cases].

García-García D, Teijeira-Bautista S, Fernández-Rodríguez JM, Flores-Calvete J, Sánchez-Espíldora P, Fernández-Couto D, Cimas-Hernando I, Teijeiro-Ferreira A, Fernández-Hojas R, Brasa-Fernández Fierros J, Martínez de Alegría A, Escribano-Arias JL, Núñez-Delgado M, Navarro-Fernández Balbuena C.

Rev Neurol. 1998 Jun;26(154):905-11. Spanish.

PMID:
9658457
14.

Autosomal recessive limb-girdle muscular dystrophy, LGMD2F, is caused by a mutation in the delta-sarcoglycan gene.

Nigro V, de Sá Moreira E, Piluso G, Vainzof M, Belsito A, Politano L, Puca AA, Passos-Bueno MR, Zatz M.

Nat Genet. 1996 Oct;14(2):195-8.

PMID:
8841194
15.

A novel form of recessive limb girdle muscular dystrophy with mental retardation and abnormal expression of alpha-dystroglycan.

Dinçer P, Balci B, Yuva Y, Talim B, Brockington M, Dinçel D, Torelli S, Brown S, Kale G, Haliloglu G, Gerçeker FO, Atalay RC, Yakicier C, Longman C, Muntoni F, Topaloglu H.

Neuromuscul Disord. 2003 Dec;13(10):771-8.

PMID:
14678799
16.

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
17.

Identification of muscle-specific calpain and beta-sarcoglycan genes in progressive autosomal recessive muscular dystrophies.

Beckmann JS, Richard I, Broux O, Fougerousse F, Allamand V, Chiannilkulchai N, Lim LE, Duclos F, Bourg N, Brenguier L, Pasturaud P, Quétier F, Roudaut C, Sunada Y, Meyer J, Dinçer P, Lefranc G, Merlini L, Topaloglu H, Tomé FM, Cohen D, Jackson CE, Campbell KP, Fardeau M.

Neuromuscul Disord. 1996 Dec;6(6):455-62.

PMID:
9027855
18.

Beta-sarcoglycan: genomic analysis and identification of a novel missense mutation in the LGMD2E Amish isolate.

Duclos F, Broux O, Bourg N, Straub V, Feldman GL, Sunada Y, Lim LE, Piccolo F, Cutshall S, Gary F, Quetier F, Kaplan JC, Jackson CE, Beckmann JS, Campbell KP.

Neuromuscul Disord. 1998 Feb;8(1):30-8.

PMID:
9565988
19.

Beta-sarcoglycan: characterization and role in limb-girdle muscular dystrophy linked to 4q12.

Lim LE, Duclos F, Broux O, Bourg N, Sunada Y, Allamand V, Meyer J, Richard I, Moomaw C, Slaughter C, et al.

Nat Genet. 1995 Nov;11(3):257-65.

PMID:
7581448
20.

Autosomal recessive muscular dystrophy and mutations of the sarcoglycan complex.

Duggan DJ, Hoffman EP.

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

PMID:
9027858

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