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Deficiency of Anoctamin 5/TMEM16E causes nuclear positioning defect and impairs Ca(2+) signaling of differentiated C2C12 myotubes
Phuong TTT, An J, Park SH, et al.
The Korean journal of physiology & pharmacology : official journal of the Korean Physiological Society and the Korean Society of Pharmacology, 2019, 23, 6, p 539
Diagnostic anoctamin-5 protein defect in patients with ANO5-mutated muscular dystrophy
Vihola A, Luque H, Savarese M, et al.
Neuropathology and applied neurobiology, 2018, 44, 5, p 441
Anoctaminopathies : les formes cliniques les moins sévères sont particulièrement fréquentes
Urtizberea JA
2017
Characterization of isolated amyloid myopathy
Liewluck T, Milone M
European journal of neurology, 2017, 24, 12, p 1437
HyperCKemia and myalgia are a common presentation of Anoctamin-5 (ANO5)-related myopathy in French patients
Papadopoulos C, Laforêt P, Nectoux J, et al.
Muscle & Nerve, 2017, 56, 6, p 1096
Robust genotyping tool for autosomal recessive type of limb-girdle muscular dystrophies
Inashkina I, Jankevics E, Stavusis J, et al.
BMC musculoskeletal disorders, 2016, 17
Genetic disruption of Ano5 in mice does not recapitulate human ANO5-deficient muscular dystrophy
Xu J, El Refaey M, Xu L, et al.
Skeletal Muscle, 2015, 5
Autosomal recessive limb-girdle muscular dystrophies in the Czech Republic
Stehlikova K, Skálová D, Zídková J, et al.
BMC neurology, 2014, 14
Novel ANO5 homozygous microdeletion causing myalgia and unprovoked rhabdomyolysis in an Arabic man
Lahoria R, Winder TL, Lui J, et al.
Muscle & Nerve, 2014, 50, 4, p 610
ANO5-muscular dystrophy : clinical, pathological and molecular findings
Liewluck T, Winder TL, Dimberg EL, et al.
European journal of neurology, 2013, 20, 10, p. 1383-1389
Long-term follow-up study on patients with Miyoshi phenotype of distal muscular dystrophy
Linssen WHJP, de Voogt WG, Krahn M, et al.
European journal of neurology, 2013, 20, 6, p. 968-974
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, et al.
Human mutation, 2013, 34, 8, p. 1111-1118
Anoctamin 5 muscular dystrophy in Denmark : prevalence, genotypes, phenotypes, cardiac findings, and muscle protein expression
Witting N, Duno M, Petri H, et al.
Journal of neurology, 2013, 260, 8, p. 2084-2093
Novel mutations in the anoctamin 5 gene (ANO5) associated with limb-girdle muscular dystrophy 2L
Little AA, McKeever PE, Gruis KL
Muscle & Nerve, 2013, 47, 2, p. 287-291
ANO5 mutations in the Dutch limb girdle muscular dystrophy population
van der Kooi AJ, Ten Dam L, Frankhuizen WS, et al.
Neuromuscular disorders : NMD, 2013, 23, 6, p. 456-460
Myopathy caused by anoctamin 5 mutations and necrotizing vasculitis
Pénisson-Besnier I, Saint-Andre JP, Hicks D, et al.
Journal of neurology, 2012, 259, 9, p. 1988-1990
LGMD2L with bone affection : overlapping phenotype of dominant and recessive ANO5-induced disease
Witting N, Duno M, Born AP, et al.
Muscle & Nerve, 2012, 46, 5, p. 829-830
Amyloidosis and exercise intolerance in ANO5 muscular dystrophy
Milone M, Liewluck T, Winder TL, et al.
Neuromuscular disorders : NMD, 2012, 22, 1, p. 13-15
Frequency and characterisation of anoctamin 5 mutations in a cohort of Italian limb-girdle muscular dystrophy patients
Magri F, Bo RD, D'Angelo MG, et al.
Neuromuscular disorders : NMD, 2012, 22, 11, p. 934-943
Selective pattern of muscle involvement seen in distal muscular dystrophy associated with anoctamin 5 mutations : a follow-up muscle MRI study
Mahjneh I, Bashir R, Kiuru-Enari S, et al.
Neuromuscular disorders : NMD, 2012, 22, Suppl 2, p. S130-136
Anoctamin 5 mutations cause aproximal LGMD2L and distal MMD3
Bolduc V, Conte TC, Marlow G, et al.
Congrès : 4th International Congress of Myology, 4ème colloque international de Myologie (9-13 mai 2011; Lille (France))
2011, p. 22
A founder mutation in anoctamin 5 is a major cause of limb-girdle muscular dystrophy
Hicks D, Sarkozy A, Muelas N, et al.
Brain, 2011, 134, 1, p. 171-182
Other limb-girdle muscular dystrophies
Amato AA
Handbook of Clinical Neurology (Muscular Dystrophies), 2011, 101, 3rd series, cha, p. 119-124, p. 8
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, et al.
American journal of human genetics (The), 2010, 86, 2, p. 213-221
