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Items: 1 to 20 of 128

1.

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.

2.

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.

3.

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
4.

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
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.

[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
7.

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
8.

ANO5 gene analysis in a large cohort of patients with anoctaminopathy: confirmation of male prevalence and high occurrence of the common exon 5 gene mutation.

Sarkozy A, Hicks D, Hudson J, Laval SH, Barresi R, Hilton-Jones D, Deschauer M, Harris E, Rufibach L, Hwang E, Bashir R, Walter MC, Krause S, van den Bergh P, Illa I, Pénisson-Besnier I, De Waele L, Turnbull D, Guglieri M, Schrank B, Schoser B, Seeger J, Schreiber H, Gläser D, Eagle M, Bailey G, Walters R, Longman C, Norwood F, Winer J, Muntoni F, Hanna M, Roberts M, Bindoff LA, Brierley C, Cooper RG, Cottrell DA, Davies NP, Gibson A, Gorman GS, Hammans S, Jackson AP, Khan A, Lane R, McConville J, McEntagart M, Al-Memar A, Nixon J, Panicker J, Parton M, Petty R, Price CJ, Rakowicz W, Ray P, Schapira AH, Swingler R, Turner C, Wagner KR, Maddison P, Shaw PJ, Straub V, Bushby K, Lochmüller H.

Hum Mutat. 2013 Aug;34(8):1111-8. doi: 10.1002/humu.22342. Epub 2013 Jun 12.

PMID:
23606453
9.

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.

10.

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.

11.

Robust genotyping tool for autosomal recessive type of limb-girdle muscular dystrophies.

Inashkina I, Jankevics E, Stavusis J, Vasiljeva I, Viksne K, Micule I, Strautmanis J, Naudina MS, Cimbalistiene L, Kucinskas V, Krumina A, Utkus A, Burnyte B, Matuleviciene A, Lace B.

BMC Musculoskelet Disord. 2016 May 4;17:200. doi: 10.1186/s12891-016-1058-z.

12.

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.

13.

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
14.

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
15.

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
16.

A novel autosomal recessive limb-girdle muscular dystrophy with quadriceps atrophy maps to 11p13-p12.

Jarry J, Rioux MF, Bolduc V, Robitaille Y, Khoury V, Thiffault I, Tétreault M, Loisel L, Bouchard JP, Brais B.

Brain. 2007 Feb;130(Pt 2):368-80. Epub 2006 Sep 28.

PMID:
17008331
17.

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
18.

A novel finding of anoctamin 5 expression in the rodent gastrointestinal tract.

Song HY, Tian YM, Zhang YM, Zhou L, Lian H, Zhu JX.

Biochem Biophys Res Commun. 2014 Aug 22;451(2):258-62. doi: 10.1016/j.bbrc.2014.07.121. Epub 2014 Aug 2.

PMID:
25094048
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.

Next generation sequencing on patients with LGMD and nonspecific myopathies: Findings associated with ANO5 mutations.

Savarese M, Di Fruscio G, Tasca G, Ruggiero L, Janssens S, De Bleecker J, Delpech M, Musumeci O, Toscano A, Angelini C, Sacconi S, Santoro L, Ricci E, Claes K, Politano L, Nigro V.

Neuromuscul Disord. 2015 Jul;25(7):533-41. doi: 10.1016/j.nmd.2015.03.011. Epub 2015 Mar 30.

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