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Items: 1 to 20 of 64

1.

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.

2.

A machine learning classifier trained on cancer transcriptomes detects NF1 inactivation signal in glioblastoma.

Way GP, Allaway RJ, Bouley SJ, Fadul CE, Sanchez Y, Greene CS.

BMC Genomics. 2017 Feb 6;18(1):127. doi: 10.1186/s12864-017-3519-7.

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A POGLUT1 mutation causes a muscular dystrophy with reduced Notch signaling and satellite cell loss.

Servián-Morilla E, Takeuchi H, Lee TV, Clarimon J, Mavillard F, Area-Gómez E, Rivas E, Nieto-González JL, Rivero MC, Cabrera-Serrano M, Gómez-Sánchez L, Martínez-López JA, Estrada B, Márquez C, Morgado Y, Suárez-Calvet X, Pita G, Bigot A, Gallardo E, Fernández-Chacón R, Hirano M, Haltiwanger RS, Jafar-Nejad H, Paradas C.

EMBO Mol Med. 2016 Nov 2;8(11):1289-1309. doi: 10.15252/emmm.201505815.

6.

Biallelic Mutations in TMTC3, Encoding a Transmembrane and TPR-Containing Protein, Lead to Cobblestone Lissencephaly.

Jerber J, Zaki MS, Al-Aama JY, Rosti RO, Ben-Omran T, Dikoglu E, Silhavy JL, Caglar C, Musaev D, Albrecht B, Campbell KP, Willer T, Almuriekhi M, Çağlayan AO, Vajsar J, Bilgüvar K, Ogur G, Abou Jamra R, Günel M, Gleeson JG.

Am J Hum Genet. 2016 Nov 3;99(5):1181-1189. doi: 10.1016/j.ajhg.2016.09.007.

PMID:
27773428
7.

Progressive Dystrophic Pathology in Diaphragm and Impairment of Cardiac Function in FKRP P448L Mutant Mice.

Blaeser A, Awano H, Wu B, Lu QL.

PLoS One. 2016 Oct 6;11(10):e0164187. doi: 10.1371/journal.pone.0164187.

8.

Role of dystroglycan in limiting contraction-induced injury to the sarcomeric cytoskeleton of mature skeletal muscle.

Rader EP, Turk R, Willer T, Beltrán D, Inamori K, Peterson TA, Engle J, Prouty S, Matsumura K, Saito F, Anderson ME, Campbell KP.

Proc Natl Acad Sci U S A. 2016 Sep 27;113(39):10992-7. doi: 10.1073/pnas.1605265113.

9.

LARGE2-dependent glycosylation confers laminin-binding ability on proteoglycans.

Inamori KI, Beedle AM, de Bernabé DB, Wright ME, Campbell KP.

Glycobiology. 2016 Dec;26(12):1284-1296.

10.

Transgenic Rescue of the LARGEmyd Mouse: A LARGE Therapeutic Window?

Hildyard JC, Lacey E, Booler H, Hopkinson M, Wells DJ, Brown SC.

PLoS One. 2016 Jul 28;11(7):e0159853. doi: 10.1371/journal.pone.0159853.

11.

ISPD produces CDP-ribitol used by FKTN and FKRP to transfer ribitol phosphate onto α-dystroglycan.

Gerin I, Ury B, Breloy I, Bouchet-Seraphin C, Bolsée J, Halbout M, Graff J, Vertommen D, Muccioli GG, Seta N, Cuisset JM, Dabaj I, Quijano-Roy S, Grahn A, Van Schaftingen E, Bommer GT.

Nat Commun. 2016 May 19;7:11534. doi: 10.1038/ncomms11534.

12.

Biological function derived from predicted structures in CASP11.

Huwe PJ, Xu Q, Shapovalov MV, Modi V, Andrake MD, Dunbrack RL Jr.

Proteins. 2016 Sep;84 Suppl 1:370-91. doi: 10.1002/prot.24997.

PMID:
27181425
13.

Global serum glycoform profiling for the investigation of dystroglycanopathies & Congenital Disorders of Glycosylation.

Heywood WE, Bliss E, Mills P, Yuzugulen J, Carreno G, Clayton PT, Muntoni F, Worthington VC, Torelli S, Sebire NJ, Mills K, Grunewald S.

Mol Genet Metab Rep. 2016 Apr 17;7:55-62. doi: 10.1016/j.ymgmr.2016.03.002.

14.

The functional O-mannose glycan on α-dystroglycan contains a phospho-ribitol primed for matriglycan addition.

Praissman JL, Willer T, Sheikh MO, Toi A, Chitayat D, Lin YY, Lee H, Stalnaker SH, Wang S, Prabhakar PK, Nelson SF, Stemple DL, Moore SA, Moremen KW, Campbell KP, Wells L.

Elife. 2016 Apr 29;5. pii: e14473. doi: 10.7554/eLife.14473.

15.

Milder forms of muscular dystrophy associated with POMGNT2 mutations.

Endo Y, Dong M, Noguchi S, Ogawa M, Hayashi YK, Kuru S, Sugiyama K, Nagai S, Ozasa S, Nonaka I, Nishino I.

Neurol Genet. 2015 Dec 10;1(4):e33. doi: 10.1212/NXG.0000000000000033.

16.

Cerebral cortex expansion and folding: what have we learned?

Fernández V, Llinares-Benadero C, Borrell V.

EMBO J. 2016 May 17;35(10):1021-44. doi: 10.15252/embj.201593701. Review.

17.

Prenatal muscle development in a mouse model for the secondary dystroglycanopathies.

Kim J, Hopkinson M, Kavishwar M, Fernandez-Fuente M, Brown SC.

Skelet Muscle. 2016 Feb 19;6:3. doi: 10.1186/s13395-016-0073-y.

18.

A Five-Gene Signature Predicts Prognosis in Patients with Kidney Renal Clear Cell Carcinoma.

Zhan Y, Guo W, Zhang Y, Wang Q, Xu XJ, Zhu L.

Comput Math Methods Med. 2015;2015:842784. doi: 10.1155/2015/842784.

19.

ISPD mutations account for a small proportion of Italian Limb Girdle Muscular Dystrophy cases.

Magri F, Colombo I, Del Bo R, Previtali S, Brusa R, Ciscato P, Scarlato M, Ronchi D, D'Angelo MG, Corti S, Moggio M, Bresolin N, Comi GP.

BMC Neurol. 2015 Sep 24;15:172. doi: 10.1186/s12883-015-0428-8.

20.

GMPPB-Associated Dystroglycanopathy: Emerging Common Variants with Phenotype Correlation.

Jensen BS, Willer T, Saade DN, Cox MO, Mozaffar T, Scavina M, Stefans VA, Winder TL, Campbell KP, Moore SA, Mathews KD.

Hum Mutat. 2015 Dec;36(12):1159-63. doi: 10.1002/humu.22898.

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