about
ANOs 3-7 in the anoctamin/Tmem16 Cl- channel family are intracellular proteinsLimb girdle muscular dystrophy type 2L presenting as necrotizing myopathy.[Muscular dystrophy due to mutations in anoctamin 5: clinical and molecular genetic findings].Anoctamins.Modulating Ca²⁺ signals: a common theme for TMEM16, Ist2, and TMC.ANO5-muscular dystrophy: clinical, pathological and molecular findings.Multiple transcripts of anoctamin genes expressed in the mouse submandibular salivary gland.Next generation sequencing on patients with LGMD and nonspecific myopathies: Findings associated with ANO5 mutationsFrequency and characterisation of anoctamin 5 mutations in a cohort of Italian limb-girdle muscular dystrophy patientsA Role of TMEM16E Carrying a Scrambling Domain in Sperm Motility.Plasma Membrane Repair in Health and DiseaseA novel missense mutation in ANO5/TMEM16E is causative for gnathodiaphyseal dyplasia in a large Italian pedigree.Physiological roles and diseases of Tmem16/Anoctamin proteins: are they all chloride channels?Independent activation of distinct pores in dimeric TMEM16A channelsThe Growing Family of Limb-Girdle Muscular Dystrophies: Old and Newly Identified Members.Hyperckemia and myalgia are common presentations of anoctamin-5-related myopathy in French patients.Novel mutations in the Anoctamin 5 gene (ANO5) associated with limb-girdle muscular dystrophy 2L.Gnathodiaphyseal dysplasia: Severe atypical presentation with novel heterozygous mutation of the anoctamin gene (ANO5).Gain of function of TMEM16E/ANO5 scrambling activity caused by a mutation associated with gnathodiaphyseal dysplasia.Anoctamins/TMEM16 Proteins: Chloride Channels Flirting with Lipids and Extracellular Vesicles.Heterogeneous characteristics of MRI changes of thigh muscles in patients with dysferlinopathy.A case of progressive quadriceps weakness and elevated creatine kinase level mimicking inclusion body myositis.Novel ANO5 mutations causing hyper-CK-emia, limb girdle muscular weakness and Miyoshi type of muscular dystrophy.Development of muscular dystrophy in a CRISPR-engineered mutant rabbit model with frame-disrupting ANO5 mutations.Myopathy caused by anoctamin 5 mutations and necrotizing vasculitisDecreased Aerobic Capacity in ANO5-Muscular Dystrophy
P2860
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P2860
description
2010 nî lūn-bûn
@nan
2010 թուականի Օգոստոսին հրատարակուած գիտական յօդուած
@hyw
2010 թվականի օգոստոսին հրատարակված գիտական հոդված
@hy
2010年の論文
@ja
2010年論文
@yue
2010年論文
@zh-hant
2010年論文
@zh-hk
2010年論文
@zh-mo
2010年論文
@zh-tw
2010年论文
@wuu
name
A new distal myopathy with mutation in anoctamin 5.
@ast
A new distal myopathy with mutation in anoctamin 5.
@en
A new distal myopathy with mutation in anoctamin 5.
@nl
type
label
A new distal myopathy with mutation in anoctamin 5.
@ast
A new distal myopathy with mutation in anoctamin 5.
@en
A new distal myopathy with mutation in anoctamin 5.
@nl
prefLabel
A new distal myopathy with mutation in anoctamin 5.
@ast
A new distal myopathy with mutation in anoctamin 5.
@en
A new distal myopathy with mutation in anoctamin 5.
@nl
P2093
P2860
P50
P1476
A new distal myopathy with mutation in anoctamin 5.
@en
P2093
Antti Lamminen
Mirja Somer
Rumaisa Bashir
Sari Kiuru-Enari
P2860
P304
P356
10.1016/J.NMD.2010.07.270
P577
2010-08-07T00:00:00Z