Literature DB >> 28505670

The Increasing Genetic and Phenotypical Diversity of Congenital Myasthenic Syndromes.

Grace McMacken1, Angela Abicht2, Teresinha Evangelista1, Sally Spendiff1, Hanns Lochmüller1.   

Abstract

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Year:  2017        PMID： 28505670     DOI： 10.1055/s-0037-1602832

Source DB:  PubMed          Journal:  Neuropediatrics        ISSN： 0174-304X            Impact factor:   1.947


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  12 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

Review 2.  Congenital Myasthenic Syndromes: a Clinical and Treatment Approach.

Authors:  Constantine Farmakidis; Mamatha Pasnoor; Richard J Barohn; Mazen M Dimachkie
Journal:  Curr Treat Options Neurol       Date:  2018-07-21       Impact factor: 3.598

3.  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

Review 4.  How to Spot Congenital Myasthenic Syndromes Resembling the Lambert-Eaton Myasthenic Syndrome? A Brief Review of Clinical, Electrophysiological, and Genetics Features.

Authors:  Paulo José Lorenzoni; Rosana Herminia Scola; Claudia Suemi Kamoi Kay; Lineu Cesar Werneck; Rita Horvath; Hanns Lochmüller
Journal:  Neuromolecular Med       Date:  2018-04-25       Impact factor: 3.843

Review 5.  Congenital Myasthenic Syndromes or Inherited Disorders of Neuromuscular Transmission: Recent Discoveries and Open Questions.

Authors:  Sophie Nicole; Yoshiteru Azuma; Stéphanie Bauché; Bruno Eymard; Hanns Lochmüller; Clarke Slater
Journal:  J Neuromuscul Dis       Date:  2017

Review 6.  The Structure of Human Neuromuscular Junctions: Some Unanswered Molecular Questions.

Authors:  Clarke R Slater
Journal:  Int J Mol Sci       Date:  2017-10-19       Impact factor: 5.923

7.  Targeted therapies for congenital myasthenic syndromes: systematic review and steps towards a treatabolome.

Authors:  Rachel Thompson; Gisèle Bonne; Paolo Missier; Hanns Lochmüller
Journal:  Emerg Top Life Sci       Date:  2019-01-28

8.  Modulation of Agrin and RhoA Pathways Ameliorates Movement Defects and Synapse Morphology in MYO9A-Depleted Zebrafish.

Authors:  Emily O'Connor; George Cairns; Sally Spendiff; David Burns; Stefan Hettwer; Armin Mäder; Juliane Müller; Rita Horvath; Clarke Slater; Andreas Roos; Hanns Lochmüller
Journal:  Cells       Date:  2019-08-07       Impact factor: 6.600

9.  Neuromuscular Junction Changes in a Mouse Model of Charcot-Marie-Tooth Disease Type 4C.

Authors:  Silvia Cipriani; Vietxuan Phan; Jean-Jacques Médard; Rita Horvath; Hanns Lochmüller; Roman Chrast; Andreas Roos; Sally Spendiff
Journal:  Int J Mol Sci       Date:  2018-12-17       Impact factor: 5.923

10.  Congenital Myasthenic Syndrome Caused by a Novel Hemizygous CHAT Mutation.

Authors:  Yixia Zhang; Xinru Cheng; Chenghan Luo; Mengyuan Lei; Fengxia Mao; Zanyang Shi; Wenjun Cao; Jingdi Zhang; Qian Zhang
Journal:  Front Pediatr       Date:  2020-04-28       Impact factor: 3.418
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