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Items: 16

1.

Germline and somatic mutations in cortical malformations: Molecular defects in Argentinean patients with neuronal migration disorders.

González-Morón D, Vishnopolska S, Consalvo D, Medina N, Marti M, Córdoba M, Vazquez-Dusefante C, Claverie S, Rodríguez-Quiroga SA, Vega P, Silva W, Kochen S, Kauffman MA.

PLoS One. 2017 Sep 27;12(9):e0185103. doi: 10.1371/journal.pone.0185103. eCollection 2017.

2.

A role for dystroglycan in the pathophysiology of acute leukemic cells.

Alonso-Rangel L, Benítez-Guerrero T, Martínez-Vieyra I, Cisneros B, Martínez-Tovar A, Winder SJ, Cerecedo D.

Life Sci. 2017 Aug 1;182:1-9. doi: 10.1016/j.lfs.2017.06.004. Epub 2017 Jun 4.

PMID:
28591567
3.

Comprehensive target capture/next-generation sequencing as a second-tier diagnostic approach for congenital muscular dystrophy in Taiwan.

Liang WC, Tian X, Yuo CY, Chen WZ, Kan TM, Su YN, Nishino I, Wong LC, Jong YJ.

PLoS One. 2017 Feb 9;12(2):e0170517. doi: 10.1371/journal.pone.0170517. eCollection 2017. Erratum in: PLoS One. 2017 Aug 10;12 (8):e0183406.

4.

Gallus gallus orthologous to human alpha-dystroglycanopathies candidate genes: Gene expression and characterization during chicken embryogenesis.

Izquierdo-Lahuerta A, de Luis O, Gómez-Esquer F, Cruces J, Coloma A.

Biochem Biophys Res Commun. 2016 Sep 23;478(3):1043-8. doi: 10.1016/j.bbrc.2016.08.027. Epub 2016 Aug 20.

PMID:
27553274
5.

Functional Similarities between the Protein O-Mannosyltransferases Pmt4 from Bakers' Yeast and Human POMT1.

Bausewein D, Engel J, Jank T, Schoedl M, Strahl S.

J Biol Chem. 2016 Aug 19;291(34):18006-15. doi: 10.1074/jbc.M116.739128. Epub 2016 Jun 29.

6.

Analysis of phenotype, enzyme activity and genotype of Chinese patients with POMT1 mutation.

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

J Hum Genet. 2016 Aug;61(8):753-9. doi: 10.1038/jhg.2016.42. Epub 2016 May 19.

PMID:
27193224
7.

Protein O-mannosylation is crucial for human mesencyhmal stem cells fate.

Ragni E, Lommel M, Moro M, Crosti M, Lavazza C, Parazzi V, Saredi S, Strahl S, Lazzari L.

Cell Mol Life Sci. 2016 Jan;73(2):445-58. doi: 10.1007/s00018-015-2007-y. Epub 2015 Aug 6.

PMID:
26245304
8.

Whole-exome sequencing diagnosis of two autosomal recessive disorders in one family.

Takeichi T, Nanda A, Aristodemou S, McMillan JR, Lee J, Akiyama M, Al-Ajmi H, Simpson MA, McGrath JA.

Br J Dermatol. 2015;172(5):1407-11. doi: 10.1111/bjd.13473. Epub 2015 Mar 7.

PMID:
25308318
9.

Psycho-organic symptoms as early manifestation of adult onset POMT1-related limb girdle muscular dystrophy.

Haberlova J, Mitrović Z, Zarković K, Lovrić D, Barić V, Berlengi L, Bilić K, Fumić K, Kranz K, Huebner A, von der Hagen M, Barresi R, Bushby K, Straub V, Barić I, Lochmüller H.

Neuromuscul Disord. 2014 Nov;24(11):990-2. doi: 10.1016/j.nmd.2014.06.440. Epub 2014 Jul 3.

PMID:
25088310
10.

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

Nigro V, Savarese M.

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

11.

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
12.

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.

13.

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
14.

A novel missense mutation in POMT1 modulates the severe congenital muscular dystrophy phenotype associated with POMT1 nonsense mutations.

Wallace SE, Conta JH, Winder TL, Willer T, Eskuri JM, Haas R, Patterson K, Campbell KP, Moore SA, Gospe SM Jr.

Neuromuscul Disord. 2014 Apr;24(4):312-20. doi: 10.1016/j.nmd.2014.01.001. Epub 2014 Jan 11.

15.

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
16.

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.

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