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Items: 1 to 20 of 446

1.

Mutations in the fukutin-related protein gene (FKRP) cause a form of congenital muscular dystrophy with secondary laminin alpha2 deficiency and abnormal glycosylation of alpha-dystroglycan.

Brockington M, Blake DJ, Prandini P, Brown SC, Torelli S, Benson MA, Ponting CP, Estournet B, Romero NB, Mercuri E, Voit T, Sewry CA, Guicheney P, Muntoni F.

Am J Hum Genet. 2001 Dec;69(6):1198-209. Epub 2001 Oct 8.

2.

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
3.

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
4.

Mutations in the human LARGE gene cause MDC1D, a novel form of congenital muscular dystrophy with severe mental retardation and abnormal glycosylation of alpha-dystroglycan.

Longman C, Brockington M, Torelli S, Jimenez-Mallebrera C, Kennedy C, Khalil N, Feng L, Saran RK, Voit T, Merlini L, Sewry CA, Brown SC, Muntoni F.

Hum Mol Genet. 2003 Nov 1;12(21):2853-61. Epub 2003 Sep 9.

PMID:
12966029
5.

Selective deficiency of alpha-dystroglycan in Fukuyama-type congenital muscular dystrophy.

Hayashi YK, Ogawa M, Tagawa K, Noguchi S, Ishihara T, Nonaka I, Arahata K.

Neurology. 2001 Jul 10;57(1):115-21.

PMID:
11445638
6.

Substitution of a conserved cysteine-996 in a cysteine-rich motif of the laminin alpha2-chain in congenital muscular dystrophy with partial deficiency of the protein.

Nissinen M, Helbling-Leclerc A, Zhang X, Evangelista T, Topaloglu H, Cruaud C, Weissenbach J, Fardeau M, Tomé FM, Schwartz K, Tryggvason K, Guicheney P.

Am J Hum Genet. 1996 Jun;58(6):1177-84.

7.

Functional requirements for fukutin-related protein in the Golgi apparatus.

Esapa CT, Benson MA, Schröder JE, Martin-Rendon E, Brockington M, Brown SC, Muntoni F, Kröger S, Blake DJ.

Hum Mol Genet. 2002 Dec 15;11(26):3319-31.

PMID:
12471058
8.

Fukutin-related protein gene mutated in the original kindred limb-girdle MD 2I.

Driss A, Noguchi S, Amouri R, Kefi M, Sasaki T, Sugie K, Souilem S, Hayashi YK, Shimizu N, Minoshima S, Kudoh J, Hentati F, Nishino I.

Neurology. 2003 Apr 22;60(8):1341-4.

PMID:
12707439
9.

Secondary reduction of alpha7B integrin in laminin alpha2 deficient congenital muscular dystrophy supports an additional transmembrane link in skeletal muscle.

Cohn RD, Mayer U, Saher G, Herrmann R, van der Flier A, Sonnenberg A, Sorokin L, Voit T.

J Neurol Sci. 1999 Mar 1;163(2):140-52.

PMID:
10371075
10.

Assignment of a form of congenital muscular dystrophy with secondary merosin deficiency to chromosome 1q42.

Brockington M, Sewry CA, Herrmann R, Naom I, Dearlove A, Rhodes M, Topaloglu H, Dubowitz V, Voit T, Muntoni F.

Am J Hum Genet. 2000 Feb;66(2):428-35.

11.

New FKRP mutations causing congenital muscular dystrophy associated with mental retardation and central nervous system abnormalities. Identification of a founder mutation in Tunisian families.

Louhichi N, Triki C, Quijano-Roy S, Richard P, Makri S, Méziou M, Estournet B, Mrad S, Romero NB, Ayadi H, Guicheney P, Fakhfakh F.

Neurogenetics. 2004 Feb;5(1):27-34. Epub 2003 Dec 2.

12.
13.

Glycosylation defects in inherited muscle disease.

Hewitt JE, Grewal PK.

Cell Mol Life Sci. 2003 Feb;60(2):251-8. Review.

PMID:
12678490
14.

Developmental defects in a zebrafish model for muscular dystrophies associated with the loss of fukutin-related protein (FKRP).

Thornhill P, Bassett D, Lochmüller H, Bushby K, Straub V.

Brain. 2008 Jun;131(Pt 6):1551-61. doi: 10.1093/brain/awn078. Epub 2008 May 13.

PMID:
18477595
15.

Localization of merosin-negative congenital muscular dystrophy to chromosome 6q2 by homozygosity mapping.

Hillaire D, Leclerc A, Fauré S, Topaloglu H, Chiannilkulchaï N, Guicheney P, Grinas L, Legos P, Philpot J, Evangelista T, et al.

Hum Mol Genet. 1994 Sep;3(9):1657-61.

PMID:
7833925
16.

Fukuyama-type congenital muscular dystrophy (FCMD) and alpha-dystroglycanopathy.

Toda T, Kobayashi K, Takeda S, Sasaki J, Kurahashi H, Kano H, Tachikawa M, Wang F, Nagai Y, Taniguchi K, Taniguchi M, Sunada Y, Terashima T, Endo T, Matsumura K.

Congenit Anom (Kyoto). 2003 Jun;43(2):97-104. Review.

PMID:
12893968
17.

Novel mutations in LAMA2 gene responsible for a severe phenotype of congenital muscular dystrophy in two Tunisian families.

Louhichi N, Richard P, Triki CH, Meziou M, Ayadi H, Guicheney P, Fakhfakh F.

Arch Inst Pasteur Tunis. 2006;83(1-4):19-23.

PMID:
19388593
18.

Merosin-deficient congenital muscular dystrophy with mental retardation and cerebellar cysts, unlinked to the LAMA2, FCMD, MEB and CMD1B loci, in three Tunisian patients.

Triki C, Louhichi N, Méziou M, Choyakh F, Kéchaou MS, Jlidi R, Mhiri C, Fakhfakh F, Ayadi H.

Neuromuscul Disord. 2003 Jan;13(1):4-12.

PMID:
12467726
19.

[Recent advances in congenital muscular dystrophy research].

Nonaka I.

No To Hattatsu. 2005 Mar;37(2):115-21. Review. Japanese.

PMID:
15773323
20.

Diagnosis and etiology of congenital muscular dystrophy.

Peat RA, Smith JM, Compton AG, Baker NL, Pace RA, Burkin DJ, Kaufman SJ, Lamandé SR, North KN.

Neurology. 2008 Jul 29;71(5):312-21. Epub 2007 Dec 26.

PMID:
18160674

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