Literature DB >> 28669131

Congenital Muscular Dystrophies and Myopathies: An Overview and Update.

David C Schorling1, Janbernd Kirschner1, Carsten G Bönnemann2.   

Abstract

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Year:  2017        PMID: 28669131     DOI: 10.1055/s-0037-1604154

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


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  7 in total

1.  ASC-1 Is a Cell Cycle Regulator Associated with Severe and Mild Forms of Myopathy.

Authors:  Rocío N Villar-Quiles; Fabio Catervi; Eva Cabet; Raul Juntas-Morales; Casie A Genetti; Teresa Gidaro; Asuman Koparir; Adnan Yüksel; Sandra Coppens; Nicolas Deconinck; Emma Pierce-Hoffman; Xavière Lornage; Julien Durigneux; Jocelyn Laporte; John Rendu; Norma B Romero; Alan H Beggs; Laurent Servais; Mireille Cossée; Montse Olivé; Johann Böhm; Isabelle Duband-Goulet; Ana Ferreiro
Journal:  Ann Neurol       Date:  2019-12-27       Impact factor: 10.422

2.  Targeted Next-Generation Sequencing in a Large Cohort of Genetically Undiagnosed Patients with Neuromuscular Disorders in Spain.

Authors:  Lidia Gonzalez-Quereda; Maria Jose Rodriguez; Jordi Diaz-Manera; Jorge Alonso-Perez; Eduard Gallardo; Andres Nascimento; Carlos Ortez; Daniel Natera-de Benito; Montse Olive; Laura Gonzalez-Mera; Adolfo Lopez de Munain; Miren Zulaica; Juan Jose Poza; Ivonne Jerico; Laura Torne; Pau Riera; Jose Milisenda; Aurora Sanchez; Gloria Garrabou; Isabel Llano; Marcos Madruga-Garrido; Pia Gallano
Journal:  Genes (Basel)       Date:  2020-05-11       Impact factor: 4.096

3.  BET1 variants establish impaired vesicular transport as a cause for muscular dystrophy with epilepsy.

Authors:  Sandra Donkervoort; Niklas Krause; Mykola Dergai; Pomi Yun; Judith Koliwer; Svetlana Gorokhova; Janelle Geist Hauserman; Beryl B Cummings; Ying Hu; Rosemarie Smith; Prech Uapinyoying; Vijay S Ganesh; Partha S Ghosh; Kristin G Monaghan; Seby L Edassery; Pia E Ferle; Sarah Silverstein; Katherine R Chao; Molly Snyder; Sara Ellingwood; Diana Bharucha-Goebel; Susan T Iannaccone; Matteo Dal Peraro; A Reghan Foley; Jeffrey N Savas; Véronique Bolduc; Dirk Fasshauer; Carsten G Bönnemann; Michael Schwake
Journal:  EMBO Mol Med       Date:  2021-11-15       Impact factor: 12.137

Review 4.  Inherited Defects of the ASC-1 Complex in Congenital Neuromuscular Diseases.

Authors:  Justine Meunier; Rocio-Nur Villar-Quiles; Isabelle Duband-Goulet; Ana Ferreiro
Journal:  Int J Mol Sci       Date:  2021-06-03       Impact factor: 5.923

5.  Sarcomeric myopathies associated with tremor: new insights and perspectives.

Authors:  Janis Stavusis; Janelle Geist; Aikaterini Kontrogianni-Konstantopoulos
Journal:  J Muscle Res Cell Motil       Date:  2019-10-16       Impact factor: 3.352

Review 6.  What's new in pontocerebellar hypoplasia? An update on genes and subtypes.

Authors:  Tessa van Dijk; Frank Baas; Peter G Barth; Bwee Tien Poll-The
Journal:  Orphanet J Rare Dis       Date:  2018-06-15       Impact factor: 4.123

7.  Novel SPEG variant cause centronuclear myopathy in China.

Authors:  Jia Tang; Wei Ma; Yangran Chen; Runze Jiang; Qinlong Zeng; Jieliang Tan; Hongqing Jiang; Qing Li; Victor W Zhang; Jing Wang; Hui Tang; Liangping Luo
Journal:  J Clin Lab Anal       Date:  2019-10-18       Impact factor: 2.352

  7 in total

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