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Results: 1 to 20 of 996

1.

New POMT2 mutations causing congenital muscular dystrophy: identification of a founder mutation.

Yanagisawa A, Bouchet C, Van den Bergh PY, Cuisset JM, Viollet L, Leturcq F, Romero NB, Quijano-Roy S, Fardeau M, Seta N, Guicheney P.

Neurology. 2007 Sep 18;69(12):1254-60. Epub 2007 Jul 18.

PMID:
17634419
[PubMed - indexed for MEDLINE]
2.

POMT2 intragenic deletions and splicing abnormalities causing congenital muscular dystrophy with mental retardation.

Yanagisawa A, Bouchet C, Quijano-Roy S, Vuillaumier-Barrot S, Clarke N, Odent S, Rodriguez D, Romero NB, Osawa M, Endo T, Taratuto AL, Seta N, Guicheney P.

Eur J Med Genet. 2009 Jul-Aug;52(4):201-6. doi: 10.1016/j.ejmg.2008.12.004. Epub 2008 Dec 27.

PMID:
19138766
[PubMed - indexed for MEDLINE]
3.

POMT1 and POMT2 mutations in CMD patients: a multicentric Italian study.

Messina S, Mora M, Pegoraro E, Pini A, Mongini T, D'Amico A, Pane M, Aiello C, Bruno C, Biancheri R, Berardinelli A, Boito C, Farina L, Morandi L, Moroni I, Pezzani R, Pichiecchio A, Ricci E, Ruggieri A, Saredi S, Scuderi C, Tessa A, Toscano A, Tortorella G, Trevisan CP, Uggetti C, Santorelli FM, Bertini E, Mercuri E.

Neuromuscul Disord. 2008 Jul;18(7):565-71. doi: 10.1016/j.nmd.2008.04.004. Epub 2008 Jun 2.

PMID:
18513969
[PubMed - indexed for MEDLINE]
4.

Four Caucasian patients with mutations in the fukutin gene and variable clinical phenotype.

Vuillaumier-Barrot S, Quijano-Roy S, Bouchet-Seraphin C, Maugenre S, Peudenier S, Van den Bergh P, Marcorelles P, Avila-Smirnow D, Chelbi M, Romero NB, Carlier RY, Estournet B, Guicheney P, Seta N.

Neuromuscul Disord. 2009 Mar;19(3):182-8. doi: 10.1016/j.nmd.2008.12.005.

PMID:
19179078
[PubMed - indexed for MEDLINE]
5.

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
[PubMed - indexed for MEDLINE]
6.

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
[PubMed - indexed for MEDLINE]
Free Article
7.

POMT2 mutations cause alpha-dystroglycan hypoglycosylation and Walker-Warburg syndrome.

van Reeuwijk J, Janssen M, van den Elzen C, Beltran-Valero de Bernabé D, Sabatelli P, Merlini L, Boon M, Scheffer H, Brockington M, Muntoni F, Huynen MA, Verrips A, Walsh CA, Barth PG, Brunner HG, van Bokhoven H.

J Med Genet. 2005 Dec;42(12):907-12. Epub 2005 May 13.

PMID:
15894594
[PubMed - indexed for MEDLINE]
Free PMC Article
8.

Refining genotype phenotype correlations in muscular dystrophies with defective glycosylation of dystroglycan.

Godfrey C, Clement E, Mein R, Brockington M, Smith J, Talim B, Straub V, Robb S, Quinlivan R, Feng L, Jimenez-Mallebrera C, Mercuri E, Manzur AY, Kinali M, Torelli S, Brown SC, Sewry CA, Bushby K, Topaloglu H, North K, Abbs S, Muntoni F.

Brain. 2007 Oct;130(Pt 10):2725-35. Epub 2007 Sep 18.

PMID:
17878207
[PubMed - indexed for MEDLINE]
Free Article
9.

[Fukuyama congenital muscular dystrophy and related alpha-dystroglycanopathies].

Murakami T, Nishino I.

Brain Nerve. 2008 Oct;60(10):1159-64. Review. Japanese.

PMID:
18975603
[PubMed - indexed for MEDLINE]
10.

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.

PMID:
14652796
[PubMed - indexed for MEDLINE]
Free PMC Article
11.

Correlation of enzyme activity and clinical phenotype in POMT1-associated dystroglycanopathies.

Lommel M, Cirak S, Willer T, Hermann R, Uyanik G, van Bokhoven H, Körner C, Voit T, Barić I, Hehr U, Strahl S.

Neurology. 2010 Jan 12;74(2):157-64. doi: 10.1212/WNL.0b013e3181c919d6.

PMID:
20065251
[PubMed - indexed for MEDLINE]
12.

Merosin-positive congenital muscular dystrophy with mental retardation, microcephaly and central nervous system abnormalities unlinked to the Fukuyama muscular dystrophy and muscular-eye-brain loci: report of three siblings.

Ruggieri V, Lubieniecki F, Meli F, Diaz D, Ferragut E, Saito K, Brockington M, Muntoni F, Fukuyama Y, Taratuto AL.

Neuromuscul Disord. 2001 Sep;11(6-7):570-8.

PMID:
11525887
[PubMed - indexed for MEDLINE]
13.

Congenital muscular dystrophy with muscle inflammation alpha dystroglycan glycosylation defect and no mutation in FKRP gene.

Lamperti C, Cagliani R, Ciscato P, Moroni I, Viri M, Romeo A, Fagiolari G, Prelle A, Comi GP, Bresolin N, Moggio M.

J Neurol Sci. 2006 Apr 15;243(1-2):47-51. Epub 2006 Jan 4.

PMID:
16386759
[PubMed - indexed for MEDLINE]
14.

Skeletal muscle MRI of the lower limbs in congenital muscular dystrophy patients with novel POMT1 and POMT2 mutations.

Hafner P, Bonati U, Fischmann A, Schneider J, Frank S, Morris-Rosendahl DJ, Dumea A, Heinimann K, Fischer D.

Neuromuscul Disord. 2014 Apr;24(4):321-4. doi: 10.1016/j.nmd.2014.01.009. Epub 2014 Jan 28.

PMID:
24556424
[PubMed - indexed for MEDLINE]
15.

POMGnT1, POMT1, and POMT2 mutations in congenital muscular dystrophies.

Endo T, Manya H, Seta N, Guicheney P.

Methods Enzymol. 2010;479:343-52. doi: 10.1016/S0076-6879(10)79019-4.

PMID:
20816175
[PubMed - indexed for MEDLINE]
16.

The expanding phenotype of POMT1 mutations: from Walker-Warburg syndrome to congenital muscular dystrophy, microcephaly, and mental retardation.

van Reeuwijk J, Maugenre S, van den Elzen C, Verrips A, Bertini E, Muntoni F, Merlini L, Scheffer H, Brunner HG, Guicheney P, van Bokhoven H.

Hum Mutat. 2006 May;27(5):453-9.

PMID:
16575835
[PubMed - indexed for MEDLINE]
17.

Molecular heterogeneity in fetal forms of type II lissencephaly.

Bouchet C, Gonzales M, Vuillaumier-Barrot S, Devisme L, Lebizec C, Alanio E, Bazin A, Bessières-Grattagliano B, Bigi N, Blanchet P, Bonneau D, Bonnières M, Carles D, Delahaye S, Fallet-Bianco C, Figarella-Branger D, Gaillard D, Gasser B, Guimiot F, Joubert M, Laurent N, Liprandi A, Loget P, Marcorelles P, Martinovic J, Menez F, Patrier S, Pelluard-Nehmé F, Perez MJ, Rouleau-Dubois C, Triau S, Laquerrière A, Encha-Razavi F, Seta N.

Hum Mutat. 2007 Oct;28(10):1020-7.

PMID:
17559086
[PubMed - indexed for MEDLINE]
18.

Brain involvement in muscular dystrophies with defective dystroglycan glycosylation.

Clement E, Mercuri E, Godfrey C, Smith J, Robb S, Kinali M, Straub V, Bushby K, Manzur A, Talim B, Cowan F, Quinlivan R, Klein A, Longman C, McWilliam R, Topaloglu H, Mein R, Abbs S, North K, Barkovich AJ, Rutherford M, Muntoni F.

Ann Neurol. 2008 Nov;64(5):573-82. doi: 10.1002/ana.21482.

PMID:
19067344
[PubMed - indexed for MEDLINE]
19.

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
[PubMed - indexed for MEDLINE]
20.

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
[PubMed - indexed for MEDLINE]
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