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Results: 20

1.

Genetic basis of limb-girdle muscular dystrophies: the 2014 update.

Nigro V, Savarese M.

Acta Myol. 2014 May;33(1):1-12. Review.

2.

Dystroglycanopathy with two novel POMT1 mutations in a Chinese boy with developmental delay and muscular dystrophy.

Chong YK, Ma LC, Lo KL, Lee CK, Mak CM, Kan AN, Lam CW.

Eur J Paediatr Neurol. 2014 Jul;18(4):532-5. doi: 10.1016/j.ejpn.2014.03.003. Epub 2014 Mar 12.

PMID:
24657014
3.

Adeno-associated virus-mediated overexpression of LARGE rescues α-dystroglycan function in dystrophic mice with mutations in the fukutin-related protein.

Vannoy CH, Xu L, Keramaris E, Lu P, Xiao X, Lu QL.

Hum Gene Ther Methods. 2014 Jun;25(3):187-96. doi: 10.1089/hgtb.2013.151. Epub 2014 May 2.

4.

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
5.

A fourth case of POMT2-related limb girdle muscle dystrophy with mild reduction of α-dystroglycan glycosylation.

Saredi S, Gibertini S, Ardissone A, Fusco I, Zanotti S, Blasevich F, Morandi L, Moroni I, Mora M.

Eur J Paediatr Neurol. 2014 May;18(3):404-8. doi: 10.1016/j.ejpn.2013.10.005. Epub 2013 Oct 27.

PMID:
24183756
6.

160 kb deletion in ISPD unmasking a recessive mutation in a patient with Walker-Warburg syndrome.

Czeschik JC, Hehr U, Hartmann B, Lüdecke HJ, Rosenbaum T, Schweiger B, Wieczorek D.

Eur J Med Genet. 2013 Dec;56(12):689-94. doi: 10.1016/j.ejmg.2013.09.014. Epub 2013 Oct 10.

PMID:
24120487
7.

Novel cardiovascular findings in association with a POMT2 mutation: three siblings with α-dystroglycanopathy.

Martinez HR, Craigen WJ, Ummat M, Adesina AM, Lotze TE, Jefferies JL.

Eur J Hum Genet. 2014 Apr;22(4):486-91. doi: 10.1038/ejhg.2013.165. Epub 2013 Sep 4.

8.

Novel POMGnT1 mutations cause muscle-eye-brain disease in Chinese patients.

Jiao H, Manya H, Wang S, Zhang Y, Li X, Xiao J, Yang Y, Kobayashi K, Toda T, Endo T, Wu X, Xiong H.

Mol Genet Genomics. 2013 Aug;288(7-8):297-308. doi: 10.1007/s00438-013-0749-5. Epub 2013 May 21.

PMID:
23689641
9.

Molecular diagnosis of congenital muscular dystrophies with defective glycosylation of alpha-dystroglycan using next-generation sequencing technology.

Lim BC, Lee S, Shin JY, Hwang H, Kim KJ, Hwang YS, Seo JS, Kim JI, Chae JH.

Neuromuscul Disord. 2013 Apr;23(4):337-44. doi: 10.1016/j.nmd.2013.01.007. Epub 2013 Mar 1.

PMID:
23453855
10.

Missense mutations in β-1,3-N-acetylglucosaminyltransferase 1 (B3GNT1) cause Walker-Warburg syndrome.

Buysse K, Riemersma M, Powell G, van Reeuwijk J, Chitayat D, Roscioli T, Kamsteeg EJ, van den Elzen C, van Beusekom E, Blaser S, Babul-Hirji R, Halliday W, Wright GJ, Stemple DL, Lin YY, Lefeber DJ, van Bokhoven H.

Hum Mol Genet. 2013 May 1;22(9):1746-54. doi: 10.1093/hmg/ddt021. Epub 2013 Jan 28.

11.

Identification of mutations in TMEM5 and ISPD as a cause of severe cobblestone lissencephaly.

Vuillaumier-Barrot S, Bouchet-Séraphin C, Chelbi M, Devisme L, Quentin S, Gazal S, Laquerrière A, Fallet-Bianco C, Loget P, Odent S, Carles D, Bazin A, Aziza J, Clemenson A, Guimiot F, Bonnière M, Monnot S, Bole-Feysot C, Bernard JP, Loeuillet L, Gonzales M, Socha K, Grandchamp B, Attié-Bitach T, Encha-Razavi F, Seta N.

Am J Hum Genet. 2012 Dec 7;91(6):1135-43. doi: 10.1016/j.ajhg.2012.10.009.

12.

Comparative genomics of neuroglobin reveals its early origins.

Dröge J, Pande A, Englander EW, Makałowski W.

PLoS One. 2012;7(10):e47972. doi: 10.1371/journal.pone.0047972. Epub 2012 Oct 25.

13.

Respiratory and cardiac function in congenital muscular dystrophies with alpha dystroglycan deficiency.

Pane M, Messina S, Vasco G, Foley AR, Morandi L, Pegoraro E, Mongini T, D'Amico A, Bianco F, Lombardo ME, Scalise R, Bruno C, Berardinelli A, Pini A, Moroni I, Mora M, Toscano A, Moggio M, Comi G, Santorelli FM, Bertini E, Muntoni F, Mercuri E.

Neuromuscul Disord. 2012 Aug;22(8):685-9. doi: 10.1016/j.nmd.2012.05.006. Epub 2012 Jun 22.

14.

Novel POMGNT1 point mutations and intragenic rearrangements associated with muscle-eye-brain disease.

Saredi S, Ardissone A, Ruggieri A, Mottarelli E, Farina L, Rinaldi R, Silvestri E, Gandioli C, D'Arrigo S, Salerno F, Morandi L, Grammatico P, Pantaleoni C, Moroni I, Mora M.

J Neurol Sci. 2012 Jul 15;318(1-2):45-50. doi: 10.1016/j.jns.2012.04.008. Epub 2012 May 2.

15.

Different roles of the two components of human protein O-mannosyltransferase, POMT1 and POMT2.

Akasaka-Manya K, Manya H, Hayashi M, Endo T.

Biochem Biophys Res Commun. 2011 Aug 12;411(4):721-5. doi: 10.1016/j.bbrc.2011.07.012. Epub 2011 Jul 18.

PMID:
21782786
16.

Intragenic rearrangements in LARGE and POMGNT1 genes in severe dystroglycanopathies.

Vuillaumier-Barrot S, Bouchet-Seraphin C, Chelbi M, Eude-Caye A, Charluteau E, Besson C, Quentin S, Devisme L, Le Bizec C, Landrieu P, Goldenberg A, Maincent K, Loget P, Boute O, Gilbert-Dussardier B, Encha-Razavi F, Gonzales M, Grandchamp B, Seta N.

Neuromuscul Disord. 2011 Nov;21(11):782-90. doi: 10.1016/j.nmd.2011.06.001. Epub 2011 Jul 2.

PMID:
21727005
17.

Fukutin mutations in non-Japanese patients with congenital muscular dystrophy: less severe mutations predominate in patients with a non-Walker-Warburg phenotype.

Yis U, Uyanik G, Heck PB, Smitka M, Nobel H, Ebinger F, Dirik E, Feng L, Kurul SH, Brocke K, Unalp A, Özer E, Cakmakci H, Sewry C, Cirak S, Muntoni F, Hehr U, Morris-Rosendahl DJ.

Neuromuscul Disord. 2011 Jan;21(1):20-30. doi: 10.1016/j.nmd.2010.08.007. Epub 2010 Oct 18.

PMID:
20961758
18.

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
19.

Heterozygous deletion of a 2-Mb region including the dystroglycan gene in a patient with mild myopathy, facial hypotonia, oral-motor dyspraxia and white matter abnormalities.

Frost AR, Böhm SV, Sewduth RN, Josifova D, Ogilvie CM, Izatt L, Roberts RG.

Eur J Hum Genet. 2010 Jul;18(7):852-5. doi: 10.1038/ejhg.2010.28. Epub 2010 Mar 17.

20.

A comparative study of alpha-dystroglycan glycosylation in dystroglycanopathies suggests that the hypoglycosylation of alpha-dystroglycan does not consistently correlate with clinical severity.

Jimenez-Mallebrera C, Torelli S, Feng L, Kim J, Godfrey C, Clement E, Mein R, Abbs S, Brown SC, Campbell KP, Kröger S, Talim B, Topaloglu H, Quinlivan R, Roper H, Childs AM, Kinali M, Sewry CA, Muntoni F.

Brain Pathol. 2009 Oct;19(4):596-611. doi: 10.1111/j.1750-3639.2008.00198.x. Epub 2008 Aug 7.

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