Format
Sort by
Items per page

Send to

Choose Destination

Links from PubMed

Items: 1 to 20 of 212

1.

Muscle MRI findings in limb girdle muscular dystrophy type 2L.

Sarkozy A, Deschauer M, Carlier RY, Schrank B, Seeger J, Walter MC, Schoser B, Reilich P, Leturq F, Radunovic A, Behin A, Laforet P, Eymard B, Schreiber H, Hicks D, Vaidya SS, Gläser D, Carlier PG, Bushby K, Lochmüller H, Straub V.

Neuromuscul Disord. 2012 Oct 1;22 Suppl 2:S122-9. doi: 10.1016/j.nmd.2012.05.012.

PMID:
22980763
2.

Comparing clinical data and muscle imaging of DYSF and ANO5 related muscular dystrophies.

Ten Dam L, van der Kooi AJ, Rövekamp F, Linssen WH, de Visser M.

Neuromuscul Disord. 2014 Dec;24(12):1097-102. doi: 10.1016/j.nmd.2014.07.004. Epub 2014 Aug 1.

PMID:
25176504
3.

Muscle MRI findings in patients with limb girdle muscular dystrophy with calpain 3 deficiency (LGMD2A) and early contractures.

Mercuri E, Bushby K, Ricci E, Birchall D, Pane M, Kinali M, Allsop J, Nigro V, Sáenz A, Nascimbeni A, Fulizio L, Angelini C, Muntoni F.

Neuromuscul Disord. 2005 Feb;15(2):164-71. Epub 2004 Nov 26.

PMID:
15694138
4.

Novel ANO5 mutations causing hyper-CK-emia, limb girdle muscular weakness and Miyoshi type of muscular dystrophy.

Schessl J, Kress W, Schoser B.

Muscle Nerve. 2012 May;45(5):740-2. doi: 10.1002/mus.23281.

PMID:
22499103
5.

Eight new mutations and the expanding phenotype variability in muscular dystrophy caused by ANO5.

Penttilä S, Palmio J, Suominen T, Raheem O, Evilä A, Muelas Gomez N, Tasca G, Waddell LB, Clarke NF, Barboi A, Hackman P, Udd B.

Neurology. 2012 Mar 20;78(12):897-903. doi: 10.1212/WNL.0b013e31824c4682. Epub 2012 Mar 7. Erratum in: Neurology. 2013 Jan 8;80(2):226.

PMID:
22402862
6.

Reliability and accuracy of skeletal muscle imaging in limb-girdle muscular dystrophies.

ten Dam L, van der Kooi AJ, van Wattingen M, de Haan RJ, de Visser M.

Neurology. 2012 Oct 16;79(16):1716-23. doi: 10.1212/WNL.0b013e31826e9b73. Epub 2012 Oct 3.

PMID:
23035061
7.

Isolated semitendinosus involvement in the initial stages of limb-girdle muscular dystrophy 2L.

Tasca G, Evilä A, Pane M, Monforte M, Graziano A, Hackman P, Mercuri E, Udd B.

Neuromuscul Disord. 2014 Dec;24(12):1118-9. doi: 10.1016/j.nmd.2014.06.442. Epub 2014 Jul 9. No abstract available.

PMID:
25149668
8.

ANO5 mutations in the Dutch limb girdle muscular dystrophy population.

van der Kooi AJ, Ten Dam L, Frankhuizen WS, Straathof CS, van Doorn PA, de Visser M, Ginjaar IB.

Neuromuscul Disord. 2013 Jun;23(6):456-60. doi: 10.1016/j.nmd.2013.03.012. Epub 2013 Apr 19.

PMID:
23607914
9.

Pattern of skeletal muscle involvement in primary dysferlinopathies: a whole-body 3.0-T magnetic resonance imaging study.

Kesper K, Kornblum C, Reimann J, Lutterbey G, Schröder R, Wattjes MP.

Acta Neurol Scand. 2009 Aug;120(2):111-8. doi: 10.1111/j.1600-0404.2008.01129.x. Epub 2008 Dec 22.

PMID:
19154541
10.

Novel mutations in the Anoctamin 5 gene (ANO5) associated with limb-girdle muscular dystrophy 2L.

Little AA, McKeever PE, Gruis KL.

Muscle Nerve. 2013 Feb;47(2):287-91. doi: 10.1002/mus.23542. Epub 2012 Nov 21.

11.

Frequency and characterisation of anoctamin 5 mutations in a cohort of Italian limb-girdle muscular dystrophy patients.

Magri F, Del Bo R, D'Angelo MG, Sciacco M, Gandossini S, Govoni A, Napoli L, Ciscato P, Fortunato F, Brighina E, Bonato S, Bordoni A, Lucchini V, Corti S, Moggio M, Bresolin N, Comi GP.

Neuromuscul Disord. 2012 Nov;22(11):934-43. doi: 10.1016/j.nmd.2012.05.001. Epub 2012 Jun 27.

12.

A founder mutation in Anoctamin 5 is a major cause of limb-girdle muscular dystrophy.

Hicks D, Sarkozy A, Muelas N, Köehler K, Huebner A, Hudson G, Chinnery PF, Barresi R, Eagle M, Polvikoski T, Bailey G, Miller J, Radunovic A, Hughes PJ, Roberts R, Krause S, Walter MC, Laval SH, Straub V, Lochmüller H, Bushby K.

Brain. 2011 Jan;134(Pt 1):171-182. doi: 10.1093/brain/awq294.

13.

Redefining dysferlinopathy phenotypes based on clinical findings and muscle imaging studies.

Paradas C, Llauger J, Diaz-Manera J, Rojas-García R, De Luna N, Iturriaga C, Márquez C, Usón M, Hankiewicz K, Gallardo E, Illa I.

Neurology. 2010 Jul 27;75(4):316-23. doi: 10.1212/WNL.0b013e3181ea1564. Epub 2010 Jun 23.

PMID:
20574037
14.

Muscle imaging analogies in a cohort of patients with different clinical phenotypes caused by LMNA gene mutations.

Carboni N, Mura M, Marrosu G, Cocco E, Marini S, Solla E, Mateddu A, Maioli MA, Piras R, Mallarini G, Mercuro G, Porcu M, Marrosu MG.

Muscle Nerve. 2010 Apr;41(4):458-63. doi: 10.1002/mus.21514.

PMID:
19882644
15.

LAMA2-related myopathy: Frequency among congenital and limb-girdle muscular dystrophies.

Løkken N, Born AP, Duno M, Vissing J.

Muscle Nerve. 2015 Oct;52(4):547-53. doi: 10.1002/mus.24588. Epub 2015 Aug 13.

PMID:
25663498
16.

Limb girdle muscular dystrophy type 2L presenting as necrotizing myopathy.

Schneider I, Stoltenburg G, Deschauer M, Winterholler M, Hanisch F.

Acta Myol. 2014 May;33(1):19-21.

17.

Diagnostic value of muscle MRI in differentiating LGMD2I from other LGMDs.

Fischer D, Walter MC, Kesper K, Petersen JA, Aurino S, Nigro V, Kubisch C, Meindl T, Lochmüller H, Wilhelm K, Urbach H, Schröder R.

J Neurol. 2005 May;252(5):538-47. Epub 2005 Feb 23.

PMID:
15726252
18.

Recessive mutations in the putative calcium-activated chloride channel Anoctamin 5 cause proximal LGMD2L and distal MMD3 muscular dystrophies.

Bolduc V, Marlow G, Boycott KM, Saleki K, Inoue H, Kroon J, Itakura M, Robitaille Y, Parent L, Baas F, Mizuta K, Kamata N, Richard I, Linssen WH, Mahjneh I, de Visser M, Bashir R, Brais B.

Am J Hum Genet. 2010 Feb 12;86(2):213-21. doi: 10.1016/j.ajhg.2009.12.013. Epub 2010 Jan 21.

19.

Muscle MRI in Ullrich congenital muscular dystrophy and Bethlem myopathy.

Mercuri E, Lampe A, Allsop J, Knight R, Pane M, Kinali M, Bonnemann C, Flanigan K, Lapini I, Bushby K, Pepe G, Muntoni F.

Neuromuscul Disord. 2005 Apr;15(4):303-10.

PMID:
15792870
20.

Clinical and genetic features of anoctaminopathy in Saudi Arabia.

Bohlega S, Monies DM, Abulaban AA, Murad HN, Alhindi HN, Meyer BF.

Neurosciences (Riyadh). 2015 Apr;20(2):173-7. doi: 10.17712/nsj.2015.2.20140547.

Supplemental Content

Support Center