Pages that link to "Q33685709"
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The following pages link to A founder mutation in Anoctamin 5 is a major cause of limb-girdle muscular dystrophy (Q33685709):
Displaying 50 items.
- ANOs 3-7 in the anoctamin/Tmem16 Cl- channel family are intracellular proteins (Q24296747) (← links)
- Structure and function of TMEM16 proteins (anoctamins) (Q26851981) (← links)
- A Pore Idea: the ion conduction pathway of TMEM16/ANO proteins is composed partly of lipid (Q28066190) (← links)
- Muscle fatigue, nNOS and muscle fiber atrophy in limb girdle muscular dystrophy (Q28083989) (← links)
- Limb girdle muscular dystrophy type 2L presenting as necrotizing myopathy (Q30317429) (← links)
- Muscular dystrophy due to mutations in anoctamin 5: clinical and molecular genetic findings (Q30318357) (← links)
- Limb-girdle muscular dystrophies: where next after six decades from the first proposal (Review). (Q33608787) (← links)
- Atypical Lipomatous Tumor/Well-Differentiated Liposarcoma Developed in a Patient with Progressive Muscular Dystrophy: A Case Report and Review of the Literature (Q33786885) (← links)
- Limb-girdle muscular dystrophy subtypes: First-reported cohort from northeastern China (Q34094843) (← links)
- Anoctamins (Q34186977) (← links)
- ANO5-muscular dystrophy: clinical, pathological and molecular findings (Q34714751) (← links)
- Autosomal recessive limb-girdle muscular dystrophies in the Czech Republic (Q35227523) (← links)
- Diagnostic evaluation of rhabdomyolysis (Q35624916) (← links)
- Next generation sequencing on patients with LGMD and nonspecific myopathies: Findings associated with ANO5 mutations (Q35852103) (← links)
- Defective membrane fusion and repair in Anoctamin5-deficient muscular dystrophy (Q35934667) (← links)
- Robust genotyping tool for autosomal recessive type of limb-girdle muscular dystrophies. (Q36007760) (← links)
- Genetic disruption of Ano5 in mice does not recapitulate human ANO5-deficient muscular dystrophy. (Q36388825) (← links)
- Frequency and characterisation of anoctamin 5 mutations in a cohort of Italian limb-girdle muscular dystrophy patients (Q36406750) (← links)
- A Role of TMEM16E Carrying a Scrambling Domain in Sperm Motility. (Q36574865) (← links)
- A novel missense mutation in ANO5/TMEM16E is causative for gnathodiaphyseal dyplasia in a large Italian pedigree. (Q36856456) (← links)
- Muscle MRI in muscular dystrophies (Q36876584) (← links)
- Skeletal Muscle Magnetic Resonance Imaging of the Lower Limbs in Late-onset Lipid Storage Myopathy with Electron Transfer Flavoprotein Dehydrogenase Gene Mutations (Q37011336) (← links)
- Physiological roles and diseases of Tmem16/Anoctamin proteins: are they all chloride channels? (Q37130687) (← links)
- Independent activation of distinct pores in dimeric TMEM16A channels (Q37385472) (← links)
- The sensitivity of exome sequencing in identifying pathogenic mutations for LGMD in the United States (Q37607062) (← links)
- Quantitative magnetic resonance imaging in limb-girdle muscular dystrophy 2I: a multinational cross-sectional study (Q37610370) (← links)
- The Classification, Natural History and Treatment of the Limb Girdle Muscular Dystrophies (Q37610524) (← links)
- Functions of volume-sensitive and calcium-activated chloride channels (Q38207549) (← links)
- Genetic basis of limb-girdle muscular dystrophies: the 2014 update (Q38213016) (← links)
- The Growing Family of Limb-Girdle Muscular Dystrophies: Old and Newly Identified Members (Q38528085) (← links)
- Prenatal diagnosis of congenital myopathies and muscular dystrophies. (Q38838661) (← links)
- Hyperckemia and myalgia are common presentations of anoctamin-5-related myopathy in French patients (Q38967024) (← links)
- Late-onset myopathy of the posterior calf muscles mimicking Miyoshi myopathy unrelated to dysferlin mutation: a case report (Q41608436) (← links)
- Myoclonus dystonia and muscular dystrophy: ɛ-sarcoglycan is part of the dystrophin-associated protein complex in brain. (Q41878236) (← links)
- Dupuytren's Contracture Cosegregation with Limb-Girdle Muscle Dystrophy. (Q41899850) (← links)
- Macular dystrophy presenting in one of two siblings with limb-girdle muscular dystrophy type 2L due to mutation of ANO5. (Q42744266) (← links)
- Clinical and genetic features of anoctaminopathy in Saudi Arabia (Q43067341) (← links)
- 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 (Q43975535) (← links)
- Novel mutations in the Anoctamin 5 gene (ANO5) associated with limb-girdle muscular dystrophy 2L. (Q44034913) (← links)
- Anoctamin 5 muscular dystrophy in Denmark: prevalence, genotypes, phenotypes, cardiac findings, and muscle protein expression (Q44039213) (← links)
- Gain of function of TMEM16E/ANO5 scrambling activity caused by a mutation associated with gnathodiaphyseal dysplasia (Q47620257) (← links)
- TMEM16E (GDD1) exhibits protein instability and distinct characteristics in chloride channel/pore forming ability. (Q48030387) (← links)
- Next-Generation Sequencing to Diagnose Muscular Dystrophy, Rhabdomyolysis, and HyperCKemia (Q49574009) (← links)
- Anoctamins/TMEM16 Proteins: Chloride Channels Flirting with Lipids and Extracellular Vesicles (Q50057538) (← links)
- A Novel ANO5 Mutation Causing Gnathodiaphyseal Dysplasia With High Bone Turnover Osteosclerosis. (Q51562025) (← links)
- Heterogeneous characteristics of MRI changes of thigh muscles in patients with dysferlinopathy. (Q51725324) (← links)
- Discovery of pathogenic variants in a large Korean cohort of inherited muscular disorders. (Q53152323) (← links)
- A case of progressive quadriceps weakness and elevated creatine kinase level mimicking inclusion body myositis. (Q54409966) (← links)
- Novel ANO5 mutations causing hyper-CK-emia, limb girdle muscular weakness and Miyoshi type of muscular dystrophy. (Q54517569) (← links)
- Development of muscular dystrophy in a CRISPR-engineered mutant rabbit model with frame-disrupting ANO5 mutations. (Q54970137) (← links)