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Literature DB >> 27563712

The 2016 version of the gene table of monogenic neuromuscular disorders (nuclear genome).

Jean-Claude Kaplan¹, Dalil Hamroun².

Abstract

Entities: Disease

Mesh：

Year: 2015 PMID： 27563712 DOI： 10.1016/j.nmd.2015.10.010

Source DB: PubMed Journal: Neuromuscul Disord ISSN： 0960-8966 Impact factor: 4.296

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12 in total

1. Genetic regulatory variation in populations informs transcriptome analysis in rare disease.

Authors: Pejman Mohammadi; Stephane E Castel; Beryl B Cummings; Jonah Einson; Christina Sousa; Paul Hoffman; Sandra Donkervoort; Zhuoxun Jiang; Payam Mohassel; A Reghan Foley; Heather E Wheeler; Hae Kyung Im; Carsten G Bonnemann; Daniel G MacArthur; Tuuli Lappalainen
Journal: Science Date: 2019-10-10 Impact factor: 47.728

2. NeuroMuscleDB: a Database of Genes Associated with Muscle Development, Neuromuscular Diseases, Ageing, and Neurodegeneration.

Authors: Mohammad Hassan Baig; Iliyas Rashid; Prachi Srivastava; Khurshid Ahmad; Arif Tasleem Jan; Gulam Rabbani; Dukhwan Choi; George E Barreto; Ghulam Md Ashraf; Eun Ju Lee; Inho Choi
Journal: Mol Neurobiol Date: 2019-01-25 Impact factor: 5.590

3. Utility of a next-generation sequencing-based gene panel investigation in German patients with genetically unclassified limb-girdle muscular dystrophy.

Authors: Marius Kuhn; Dieter Gläser; Pushpa Raj Joshi; Stephan Zierz; Stephan Wenninger; Benedikt Schoser; Marcus Deschauer
Journal: J Neurol Date: 2016-02-17 Impact factor: 4.849

4. 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

5. Report on the 3rd Ottawa International Conference on Neuromuscular Biology, Disease and Therapy - September 24-26, 2015, Ottawa, Canada.

Authors: Jodi Warman Chardon; Bernard J Jasmin; Rashmi Kothary; Robin J Parks
Journal: J Neuromuscul Dis Date: 2016-08-30

6. Clinical and Pathologic Findings of Korean Patients with RYR1-Related Congenital Myopathy.

Authors: Ha Neul Jeong; Hyung Jun Park; Jung Hwan Lee; Ha Young Shin; Se Hoon Kim; Seung Min Kim; Young Chul Choi
Journal: J Clin Neurol Date: 2018-01 Impact factor: 3.077

7. Large-Scale Expansion of Human iPSC-Derived Skeletal Muscle Cells for Disease Modeling and Cell-Based Therapeutic Strategies.

Authors: Erik van der Wal; Pablo Herrero-Hernandez; Raymond Wan; Mike Broeders; Stijn L M In 't Groen; Tom J M van Gestel; Wilfred F J van IJcken; Tom H Cheung; Ans T van der Ploeg; Gerben J Schaaf; W W M Pim Pijnappel
Journal: Stem Cell Reports Date: 2018-05-03 Impact factor: 7.765