Warning: Undefined array key "mm" in /www/wwwroot/www.ai-bt.com/si.php on line 10 Deprecated: trim(): Passing null to parameter #1 ($string) of type string is deprecated in /www/wwwroot/www.ai-bt.com/si.php on line 10 Phenotype of a patient with recessive centronuclear myopathy and a novel BIN1 mutation.

Literature DB >> 20142620

Phenotype of a patient with recessive centronuclear myopathy and a novel BIN1 mutation.

K G Claeys¹, T Maisonobe, J Böhm, J Laporte, M Hezode, N B Romero, G Brochier, M Bitoun, R Y Carlier, T Stojkovic.

Abstract

Entities: Disease Gene Mutation Species

Mesh：

Substances：

Year: 2010 PMID： 20142620 DOI： 10.1212/WNL.0b013e3181cef7f9

Source DB: PubMed Journal: Neurology ISSN： 0028-3878 Impact factor: 9.910

Keyword Cloud
Cited

× No keyword cloud information.

30 in total

1. Clinical utility gene card for: Centronuclear and myotubular myopathies.

Authors: Valérie Biancalana; Alan H Beggs; Soma Das; Heinz Jungbluth; Wolfram Kress; Ichizo Nishino; Kathryn North; Norma B Romero; Jocelyn Laporte
Journal: Eur J Hum Genet Date: 2012-05-23 Impact factor: 4.246

2. A Roma founder BIN1 mutation causes a novel phenotype of centronuclear myopathy with rigid spine.

Authors: Macarena Cabrera-Serrano; Fabiola Mavillard; Valerie Biancalana; Eloy Rivas; Bharti Morar; Aurelio Hernández-Laín; Montse Olive; Nuria Muelas; Eduardo Khan; Alejandra Carvajal; Pablo Quiroga; Jordi Diaz-Manera; Mark Davis; Rainiero Ávila; Cristina Domínguez; Norma Beatriz Romero; Juan J Vílchez; David Comas; Nigel G Laing; Jocelyn Laporte; Luba Kalaydjieva; Carmen Paradas
Journal: Neurology Date: 2018-06-27 Impact factor: 9.910

3. Dstac is required for normal circadian activity rhythms in Drosophila.

Authors: I-Uen Hsu; Jeremy W Linsley; Jade E Varineau; Orie T Shafer; John Y Kuwada
Journal: Chronobiol Int Date: 2018-04-05 Impact factor: 2.877

4. Endplate structure and parameters of neuromuscular transmission in sporadic centronuclear myopathy associated with myasthenia.

Authors: Teerin Liewluck; Xin-Ming Shen; Margherita Milone; Andrew G Engel
Journal: Neuromuscul Disord Date: 2011-04-08 Impact factor: 4.296

Phenotype of a patient with recessive centronuclear myopathy and a novel BIN1 mutation.

1. Clinical utility gene card for: Centronuclear and myotubular myopathies.

2. A Roma founder BIN1 mutation causes a novel phenotype of centronuclear myopathy with rigid spine.

3. Dstac is required for normal circadian activity rhythms in Drosophila.

4. Endplate structure and parameters of neuromuscular transmission in sporadic centronuclear myopathy associated with myasthenia.

Review 5. Current status of the congenital myasthenic syndromes.

Review 6. New horizons for congenital myasthenic syndromes.

7. Tubulation by amphiphysin requires concentration-dependent switching from wedging to scaffolding.

Review 8. Loss of motor function in preclinical Alzheimer's disease.

9. Bridging integrator 1 (Bin1) deficiency in zebrafish results in centronuclear myopathy.

Review 10. Amphiphysin 2 (BIN1) in physiology and diseases.