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Literature DB >> 23468559

Congenital myasthenic syndromes: an update.

Sarah Finlayson¹, David Beeson, Jacqueline Palace.

Abstract

Entities: Disease

Mesh：

Year: 2013 PMID： 23468559 DOI： 10.1136/practneurol-2012-000404

Source DB: PubMed Journal: Pract Neurol ISSN： 1474-7758

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Cited

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20 in total

1. Salbutamol modifies the neuromuscular junction in a mouse model of ColQ myasthenic syndrome.

Authors: Grace M McMacken; Sally Spendiff; Roger G Whittaker; Emily O'Connor; Rachel M Howarth; Veronika Boczonadi; Rita Horvath; Clarke R Slater; Hanns Lochmüller
Journal: Hum Mol Genet Date: 2019-07-15 Impact factor: 6.150

2. Defective fast inactivation recovery of Nav 1.4 in congenital myasthenic syndrome.

Authors: W David Arnold; Daniel H Feldman; Sandra Ramirez; Liuyuan He; Darine Kassar; Adam Quick; Tara L Klassen; Marian Lara; Joanna Nguyen; John T Kissel; Christoph Lossin; Ricardo A Maselli
Journal: Ann Neurol Date: 2015-03-27 Impact factor: 10.422

Review 3. The role of muscle-specific tyrosine kinase (MuSK) and mystery of MuSK myasthenia gravis.

Authors: Inga Koneczny; Judith Cossins; Angela Vincent
Journal: J Anat Date: 2013-03-04 Impact factor: 2.610

4. A common CHRNE mutation in Brazilian patients with congenital myasthenic syndrome.

Authors: Eduardo de Paula Estephan; Cláudia Ferreira da Rosa Sobreira; André Clériston José Dos Santos; Pedro José Tomaselli; Wilson Marques; Roberta Paiva Magalhães Ortega; Marcela Câmara Machado Costa; André Macedo Serafim da Silva; Rodrigo Holanda Mendonça; Vitor Marques Caldas; Antonio Alberto Zambon; Osório Abath Neto; Paulo Eurípedes Marchiori; Carlos Otto Heise; Umbertina Conti Reed; Yoshiteru Azuma; Ana Töpf; Hanns Lochmüller; Edmar Zanoteli
Journal: J Neurol Date: 2018-01-30 Impact factor: 4.849

5. Vesicular acetylcholine transporter defect underlies devastating congenital myasthenia syndrome.

Authors: Adi Aran; Reeval Segel; Kota Kaneshige; Suleyman Gulsuner; Paul Renbaum; Scott Oliphant; Tomer Meirson; Ariella Weinberg-Shukron; Yair Hershkovitz; Sharon Zeligson; Ming K Lee; Abraham O Samson; Stanley M Parsons; Mary-Claire King; Ephrat Levy-Lahad; Tom Walsh
Journal: Neurology Date: 2017-02-10 Impact factor: 9.910

6. Muscle magnetic resonance imaging in congenital myasthenic syndromes.

Authors: Sarah Finlayson; Jasper M Morrow; Pedro M Rodriguez Cruz; Christopher D J Sinclair; Arne Fischmann; John S Thornton; Steve Knight; Ray Norbury; Mel White; Michal Al-Hajjar; Nicola Carboni; Sandeep Jayawant; Stephanie A Robb; Tarek A Yousry; David Beeson; Jacqueline Palace
Journal: Muscle Nerve Date: 2016-02-22 Impact factor: 3.217

Congenital myasthenic syndromes: an update.

1. Salbutamol modifies the neuromuscular junction in a mouse model of ColQ myasthenic syndrome.

2. Defective fast inactivation recovery of Nav 1.4 in congenital myasthenic syndrome.

Review 3. The role of muscle-specific tyrosine kinase (MuSK) and mystery of MuSK myasthenia gravis.

4. A common CHRNE mutation in Brazilian patients with congenital myasthenic syndrome.

5. Vesicular acetylcholine transporter defect underlies devastating congenital myasthenia syndrome.

6. Muscle magnetic resonance imaging in congenital myasthenic syndromes.

7. Salbutamol and ephedrine in the treatment of severe AChR deficiency syndromes.

Review 8. Neuromuscular disorders in zebrafish: state of the art and future perspectives.

9. Congenital Myasthenic Syndromes with Predominant Limb Girdle Weakness.

Review 10. Inherited disorders of the neuromuscular junction: an update.