Format
Sort by
Items per page

Send to

Choose Destination

Links from PubMed

Items: 1 to 20 of 231

1.

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
2.

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
3.

Miyoshi-like distal myopathy with mutations in anoctamin 5 gene.

Bouquet F, Cossée M, Béhin A, Deburgrave N, Romero N, Leturcq F, Eymard B.

Rev Neurol (Paris). 2012 Feb;168(2):135-41. doi: 10.1016/j.neurol.2011.10.005. Epub 2012 Feb 13.

PMID:
22336395
4.

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
5.

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.

6.

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
7.

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.

8.

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.

9.

Defective membrane fusion and repair in Anoctamin5-deficient muscular dystrophy.

Griffin DA, Johnson RW, Whitlock JM, Pozsgai ER, Heller KN, Grose WE, Arnold WD, Sahenk Z, Hartzell HC, Rodino-Klapac LR.

Hum Mol Genet. 2016 May 15;25(10):1900-1911. Epub 2016 Feb 23.

10.

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
11.

[Muscular dystrophy due to mutations in anoctamin 5: clinical and molecular genetic findings].

Deschauer M, Joshi PR, Gläser D, Hanisch F, Stoltenburg G, Zierz S.

Nervenarzt. 2011 Dec;82(12):1596-603. doi: 10.1007/s00115-011-3325-4. German.

PMID:
21739273
12.

DYSF mutation analysis in a group of Chinese patients with dysferlinopathy.

Zhao Z, Hu J, Sakiyama Y, Okamoto Y, Higuchi I, Li N, Shen H, Takashima H.

Clin Neurol Neurosurg. 2013 Aug;115(8):1234-7. doi: 10.1016/j.clineuro.2012.11.010. Epub 2012 Dec 14.

PMID:
23254335
13.

Novel ANO5 homozygous microdeletion causing myalgia and unprovoked rhabdomyolysis in an Arabic man.

Lahoria R, Winder TL, Lui J, Al-Owain MA, Milone M.

Muscle Nerve. 2014 Oct;50(4):610-3. doi: 10.1002/mus.24302. Epub 2014 Aug 30.

PMID:
24889862
14.

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.

15.

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.

16.

Novel splice site mutation in the caveolin-3 gene leading to autosomal recessive limb girdle muscular dystrophy.

Müller JS, Piko H, Schoser BG, Schlotter-Weigel B, Reilich P, Gürster S, Born C, Karcagi V, Pongratz D, Lochmüller H, Walter MC.

Neuromuscul Disord. 2006 Jul;16(7):432-6. Epub 2006 May 26.

PMID:
16730439
17.

Autosomal-dominant distal myopathy with a myotilin S55F mutation: sorting out the phenotype.

Berciano J, Gallardo E, Domínguez-Perles R, Gallardo E, García A, García-Barredo R, Combarros O, Infante J, Illa I.

J Neurol Neurosurg Psychiatry. 2008 Feb;79(2):205-8. Epub 2007 Aug 13.

PMID:
17698502
18.

Phenotypic features and genetic findings in 2 chinese families with Miyoshi distal myopathy.

Ro LS, Lee-Chen GJ, Lin TC, Wu YR, Chen CM, Lin CY, Chen ST.

Arch Neurol. 2004 Oct;61(10):1594-9.

PMID:
15477515
19.

Anoctamin 5 muscular dystrophy in Denmark: prevalence, genotypes, phenotypes, cardiac findings, and muscle protein expression.

Witting N, Duno M, Petri H, Krag T, Bundgaard H, Kober L, Vissing J.

J Neurol. 2013 Aug;260(8):2084-93. doi: 10.1007/s00415-013-6934-y. Epub 2013 May 14.

PMID:
23670307
20.

Novel DYSF mutations in Thai patients with distal myopathy.

Liewluck T, Pongpakdee S, Witoonpanich R, Sangruchi T, Pho-Iam T, Limwongse C, Thongnoppakhun W, Boonyapisit K, Sopassathit V, Phudhichareonrat S, Suthiponpaisan U, Raksadawan N, Goto K, Hayashi YK, Nishino I.

Clin Neurol Neurosurg. 2009 Sep;111(7):613-8. doi: 10.1016/j.clineuro.2009.05.001. Epub 2009 Jun 2.

PMID:
19493611

Supplemental Content

Support Center