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Literature DB >> 22527239

Myopathy caused by anoctamin 5 mutations and necrotizing vasculitis.

Isabelle Pénisson-Besnier, Jean-Paul Saint-André, Debbie Hicks, Anna Sarkozy, Anne Croué, Judith Hudson, Hanns Lochmüller, Frédéric Dubas.

Abstract

Entities: Disease Gene

Mesh：

Substances：

Year: 2012 PMID： 22527239 DOI： 10.1007/s00415-012-6502-x

Source DB: PubMed Journal: J Neurol ISSN： 0340-5354 Impact factor: 4.849

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16 in total

1. Prominent inflammatory changes on muscle biopsy in patients with Miyoshi myopathy.

Authors: J Rowin; M N Meriggioli; E J Cochran; D B Sanders
Journal: Neuromuscul Disord Date: 1999-10 Impact factor: 4.296

2. Inflammation in dysferlin myopathy: immunohistochemical characterization of 13 patients.

Authors: E Gallardo; R Rojas-García; N de Luna; A Pou; R H Brown; I Illa
Journal: Neurology Date: 2001-12-11 Impact factor: 9.910

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

Authors: M Deschauer; P R Joshi; D Gläser; F Hanisch; G Stoltenburg; S Zierz
Journal: Nervenarzt Date: 2011-12 Impact factor: 1.214

Review 4. Physiological roles and diseases of Tmem16/Anoctamin proteins: are they all chloride channels?

Authors: Charity Duran; H Criss Hartzell
Journal: Acta Pharmacol Sin Date: 2011-06 Impact factor: 6.150

5. Novel diagnostic features of dysferlinopathies.

Authors: Xiomara Q Rosales; Julie M Gastier-Foster; Sarah Lewis; Malik Vinod; Devon L Thrush; Caroline Astbury; Robert Pyatt; Shalini Reshmi; Zarife Sahenk; Jerry R Mendell
Journal: Muscle Nerve Date: 2010-07 Impact factor: 3.217

6. Secondary reduction in calpain 3 expression in patients with limb girdle muscular dystrophy type 2B and Miyoshi myopathy (primary dysferlinopathies).

Authors: L V Anderson; R M Harrison; R Pogue; E Vafiadaki; C Pollitt; K Davison; J A Moss; S Keers; A Pyle; P J Shaw; I Mahjneh; Z Argov; C R Greenberg; K Wrogemann; T Bertorini; H H Goebel; J S Beckmann; R Bashir; K M Bushby
Journal: Neuromuscul Disord Date: 2000-12 Impact factor: 4.296

7. Amyloidosis and exercise intolerance in ANO5 muscular dystrophy.

Authors: Margherita Milone; Teerin Liewluck; Thomas L Winder; Paolo T Pianosi
Journal: Neuromuscul Disord Date: 2011-08-04 Impact factor: 4.296

8. Patients with a non-dysferlin Miyoshi myopathy have a novel membrane repair defect.

Authors: Jyoti K Jaiswal; Gareth Marlow; Gillian Summerill; Ibrahim Mahjneh; Sebastian Mueller; Maria Hill; Katsuya Miyake; Hannelore Haase; Louise V B Anderson; Isabelle Richard; Sari Kiuru-Enari; Paul L McNeil; Sanford M Simon; Rumaisa Bashir
Journal: Traffic Date: 2006-11-21 Impact factor: 6.215

Myopathy caused by anoctamin 5 mutations and necrotizing vasculitis.

1. Prominent inflammatory changes on muscle biopsy in patients with Miyoshi myopathy.

2. Inflammation in dysferlin myopathy: immunohistochemical characterization of 13 patients.

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

Review 4. Physiological roles and diseases of Tmem16/Anoctamin proteins: are they all chloride channels?

5. Novel diagnostic features of dysferlinopathies.

6. Secondary reduction in calpain 3 expression in patients with limb girdle muscular dystrophy type 2B and Miyoshi myopathy (primary dysferlinopathies).

7. Amyloidosis and exercise intolerance in ANO5 muscular dystrophy.

8. Patients with a non-dysferlin Miyoshi myopathy have a novel membrane repair defect.

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

10. Splicing mutation in dysferlin produces limb-girdle muscular dystrophy with inflammation.

1. Genetic disruption of Ano5 in mice does not recapitulate human ANO5-deficient muscular dystrophy.

2. Limb girdle muscular dystrophy type 2L presenting as necrotizing myopathy.

3. Clinical and genetic features of anoctaminopathy in Saudi Arabia.

Review 4. Gene Editing in Rabbits: Unique Opportunities for Translational Biomedical Research.