Format
Sort by
Items per page

Send to

Choose Destination

Links from PubMed

Items: 1 to 20 of 93

1.

Corrigendum to "A homozygous DPM3 mutation in a patient with alpha-dystroglycan-related limb girdle muscular dystrophy" [Neuromuscular disorders 27/11 (2017) 1043-1046].

Van den Bergh PYK, Sznajer Y, Van Parys V, van Tol W, Wevers RA, Lefeber DJ, Xu L, Lek M, MacArthur DG, Johnson K, Phillips L, Töpf A, Straub V.

Neuromuscul Disord. 2018 Jan;28(1):101. doi: 10.1016/j.nmd.2017.11.012. Epub 2017 Dec 12. No abstract available.

PMID:
29246662
2.

Dilated cardiomyopathy and limb-girdle muscular dystrophy-dystroglycanopathy due to novel pathogenic variants in the DPM3 gene.

Svahn J, Laforêt P, Vial C, Streichenberger N, Romero N, Bouchet-Séraphin C, Bruneel A, Dupré T, Seta N, Menassa R, Michel-Calemard L, Stojkovic T.

Neuromuscul Disord. 2019 Jul;29(7):497-502. doi: 10.1016/j.nmd.2019.05.004. Epub 2019 May 9.

PMID:
31266720
3.

Limb girdle muscular dystrophy type 2I: No correlation between clinical severity, histopathology and glycosylated α-dystroglycan levels in patients homozygous for common FKRP mutation.

Alhamidi M, Brox V, Stensland E, Liset M, Lindal S, Nilssen Ø.

Neuromuscul Disord. 2017 Jul;27(7):619-626. doi: 10.1016/j.nmd.2017.02.015. Epub 2017 Mar 4.

PMID:
28479227
4.

A dystroglycan mutation associated with limb-girdle muscular dystrophy.

Hara Y, Balci-Hayta B, Yoshida-Moriguchi T, Kanagawa M, Beltrán-Valero de Bernabé D, Gündeşli H, Willer T, Satz JS, Crawford RW, Burden SJ, Kunz S, Oldstone MB, Accardi A, Talim B, Muntoni F, Topaloğlu H, Dinçer P, Campbell KP.

N Engl J Med. 2011 Mar 10;364(10):939-46. doi: 10.1056/NEJMoa1006939.

5.

Mild POMGnT1 mutations underlie a novel limb-girdle muscular dystrophy variant.

Clement EM, Godfrey C, Tan J, Brockington M, Torelli S, Feng L, Brown SC, Jimenez-Mallebrera C, Sewry CA, Longman C, Mein R, Abbs S, Vajsar J, Schachter H, Muntoni F.

Arch Neurol. 2008 Jan;65(1):137-41. doi: 10.1001/archneurol.2007.2.

PMID:
18195152
6.

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
7.

A new monoclonal antibody DAG-6F4 against human alpha-dystroglycan reveals reduced core protein in some, but not all, dystroglycanopathy patients.

Humphrey EL, Lacey E, Le LT, Feng L, Sciandra F, Morris CR, Hewitt JE, Holt I, Brancaccio A, Barresi R, Sewry CA, Brown SC, Morris GE.

Neuromuscul Disord. 2015 Jan;25(1):32-42. doi: 10.1016/j.nmd.2014.09.005. Epub 2014 Sep 16.

PMID:
25387694
8.

Clinical and molecular characterization of patients with limb-girdle muscular dystrophy type 2I.

Boito CA, Melacini P, Vianello A, Prandini P, Gavassini BF, Bagattin A, Siciliano G, Angelini C, Pegoraro E.

Arch Neurol. 2005 Dec;62(12):1894-9.

PMID:
16344347
9.

Glucocorticoid Steroid and Alendronate Treatment Alleviates Dystrophic Phenotype with Enhanced Functional Glycosylation of α-Dystroglycan in Mouse Model of Limb-Girdle Muscular Dystrophy with FKRPP448L Mutation.

Wu B, Shah SN, Lu P, Richardson SM, Bollinger LE, Blaeser A, Madden KL, Sun Y, Luckie TM, Cox MD, Sparks S, Harper AD, Lu QL.

Am J Pathol. 2016 Jun;186(6):1635-48. doi: 10.1016/j.ajpath.2016.02.015. Epub 2016 Apr 22.

PMID:
27109613
10.

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
11.

POMT2 gene mutation in limb-girdle muscular dystrophy with inflammatory changes.

Biancheri R, Falace A, Tessa A, Pedemonte M, Scapolan S, Cassandrini D, Aiello C, Rossi A, Broda P, Zara F, Santorelli FM, Minetti C, Bruno C.

Biochem Biophys Res Commun. 2007 Nov 30;363(4):1033-7. Epub 2007 Sep 25.

PMID:
17923109
12.

A New Mouse Model of Limb-Girdle Muscular Dystrophy Type 2I Homozygous for the Common L276I Mutation Mimicking the Mild Phenotype in Humans.

Krag TO, Vissing J.

J Neuropathol Exp Neurol. 2015 Dec;74(12):1137-46. doi: 10.1097/NEN.0000000000000260.

PMID:
26574668
13.

Abnormalities in alpha-dystroglycan expression in MDC1C and LGMD2I muscular dystrophies.

Brown SC, Torelli S, Brockington M, Yuva Y, Jimenez C, Feng L, Anderson L, Ugo I, Kroger S, Bushby K, Voit T, Sewry C, Muntoni F.

Am J Pathol. 2004 Feb;164(2):727-37.

14.

TRAPPC11 and GOSR2 mutations associate with hypoglycosylation of α-dystroglycan and muscular dystrophy.

Larson AA, Baker PR 2nd, Milev MP, Press CA, Sokol RJ, Cox MO, Lekostaj JK, Stence AA, Bossler AD, Mueller JM, Prematilake K, Tadjo TF, Williams CA, Sacher M, Moore SA.

Skelet Muscle. 2018 May 31;8(1):17. doi: 10.1186/s13395-018-0163-0.

15.

Limb-girdle muscular dystrophy type 2A resulting from homozygous G2338C transversion mutation in the calpain-3 gene.

Peddareddygari LR, Surgan V, Grewal RP.

J Clin Neuromuscul Dis. 2010 Dec;12(2):62-5. doi: 10.1097/CND.0b013e3181f3dbd3.

PMID:
21386772
16.

A novel homozygous ISPD gene mutation causing phenotype variability in a consanguineous family.

Baranello G, Saredi S, Sansanelli S, Savadori P, Canioni E, Chiapparini L, Balestri P, Malandrini A, Arnoldi MT, Pantaleoni C, Morandi L, Mora M.

Neuromuscul Disord. 2015 Jan;25(1):55-9. doi: 10.1016/j.nmd.2014.08.007. Epub 2014 Sep 10.

PMID:
25444434
17.

A new mutation of the fukutin gene causing late-onset limb girdle muscular dystrophy.

Riisager M, Duno M, Hansen FJ, Krag TO, Vissing CR, Vissing J.

Neuromuscul Disord. 2013 Jul;23(7):562-7. doi: 10.1016/j.nmd.2013.04.006. Epub 2013 Jun 6.

PMID:
23746544
18.

Deficiency of Dol-P-Man synthase subunit DPM3 bridges the congenital disorders of glycosylation with the dystroglycanopathies.

Lefeber DJ, Schönberger J, Morava E, Guillard M, Huyben KM, Verrijp K, Grafakou O, Evangeliou A, Preijers FW, Manta P, Yildiz J, Grünewald S, Spilioti M, van den Elzen C, Klein D, Hess D, Ashida H, Hofsteenge J, Maeda Y, van den Heuvel L, Lammens M, Lehle L, Wevers RA.

Am J Hum Genet. 2009 Jul;85(1):76-86. doi: 10.1016/j.ajhg.2009.06.006. Epub 2009 Jul 2.

19.

Dissociation of the dystroglycan complex in caveolin-3-deficient limb girdle muscular dystrophy.

Herrmann R, Straub V, Blank M, Kutzick C, Franke N, Jacob EN, Lenard HG, Kröger S, Voit T.

Hum Mol Genet. 2000 Sep 22;9(15):2335-40.

PMID:
11001938
20.

Childhood Activity on Progression in Limb Girdle Muscular Dystrophy 2I.

Brun BN, Mockler SR, Laubscher KM, Stephan CM, Collison JA, Zimmerman MB, Mathews KD.

J Child Neurol. 2017 Feb;32(2):204-209. doi: 10.1177/0883073816677680. Epub 2016 Nov 22.

Supplemental Content

Support Center