Literature DB >> 33257164

The 2021 version of the gene table of neuromuscular disorders (nuclear genome).

Louise Benarroch1, Gisèle Bonne2, François Rivier3, Dalil Hamroun4.   

Abstract

Entities:  

Year:  2020        PMID： 33257164     DOI： 10.1016/j.nmd.2020.11.009

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


× No keyword cloud information.
  12 in total

1.  Single-nucleus cross-tissue molecular reference maps toward understanding disease gene function.

Authors:  Gökcen Eraslan; Eugene Drokhlyansky; Shankara Anand; Evgenij Fiskin; Ayshwarya Subramanian; Michal Slyper; Jiali Wang; Ayellet V Segrè; François Aguet; Orit Rozenblatt-Rosen; Kristin G Ardlie; Aviv Regev; Nicholas Van Wittenberghe; John M Rouhana; Julia Waldman; Orr Ashenberg; Monkol Lek; Danielle Dionne; Thet Su Win; Michael S Cuoco; Olena Kuksenko; Alexander M Tsankov; Philip A Branton; Jamie L Marshall; Anna Greka; Gad Getz
Journal:  Science       Date:  2022-05-13       Impact factor: 63.714

2.  Rapid Molecular Diagnosis of Genetically Inherited Neuromuscular Disorders Using Next-Generation Sequencing Technologies.

Authors:  Sofia Barbosa-Gouveia; Maria Eugenia Vázquez-Mosquera; Emiliano González-Vioque; Álvaro Hermida-Ameijeiras; Paula Sánchez-Pintos; Maria José de Castro; Soraya Ramiro León; Belén Gil-Fournier; Cristina Domínguez-González; Ana Camacho Salas; Luis Negrão; Isabel Fineza; Francisco Laranjeira; Maria Luz Couce
Journal:  J Clin Med       Date:  2022-05-12       Impact factor: 4.964

Review 3.  The Increasing Impact of Translational Research in the Molecular Diagnostics of Neuromuscular Diseases.

Authors:  Dèlia Yubero; Daniel Natera-de Benito; Jordi Pijuan; Judith Armstrong; Loreto Martorell; Guerau Fernàndez; Joan Maynou; Cristina Jou; Mònica Roldan; Carlos Ortez; Andrés Nascimento; Janet Hoenicka; Francesc Palau
Journal:  Int J Mol Sci       Date:  2021-04-20       Impact factor: 5.923

4.  Myoparr-Associated and -Independent Multiple Roles of Heterogeneous Nuclear Ribonucleoprotein K during Skeletal Muscle Cell Differentiation.

Authors:  Keisuke Hitachi; Yuri Kiyofuji; Masashi Nakatani; Kunihiro Tsuchida
Journal:  Int J Mol Sci       Date:  2021-12-22       Impact factor: 5.923

Review 5.  Psychopharmacological Treatments for Mental Disorders in Patients with Neuromuscular Diseases: A Scoping Review.

Authors:  Chiara Brusa; Giulio Gadaleta; Rossella D'Alessandro; Guido Urbano; Martina Vacchetti; Chiara Davico; Benedetto Vitiello; Federica S Ricci; Tiziana E Mongini
Journal:  Brain Sci       Date:  2022-01-28

6.  Involvement of muscle satellite cell dysfunction in neuromuscular disorders: Expanding the portfolio of satellite cell-opathies.

Authors:  Massimo Ganassi; Peter S Zammit
Journal:  Eur J Transl Myol       Date:  2022-03-18

Review 7.  Aquatic Therapy for Persons with Neuromuscular Diseases - A Scoping Review.

Authors:  Anna Ogonowska-Slodownik; Ana Angélica R de Lima; Luciana Cordeiro; Natalia Morgulec-Adamowicz; María Alonso-Fraile; Javier Güeita-Rodríguez
Journal:  J Neuromuscul Dis       Date:  2022

Review 8.  Novel copy number variation of COLQ gene in a Moroccan patient with congenital myasthenic syndrome: a case report and review of the literature.

Authors:  Youssef El Kadiri; Ilham Ratbi; Abdelaziz Sefiani; Jaber Lyahyai
Journal:  BMC Neurol       Date:  2022-08-05       Impact factor: 2.903

9.  Genetic Distribution of Five Spinocerebellar Ataxia Microsatellite Loci in Mexican Native American Populations and Its Impact on Contemporary Mestizo Populations.

Authors:  Rocío Gómez; Yessica S Tapia-Guerrero; Bulmaro Cisneros; Lorena Orozco; César Cerecedo-Zapata; Elvia Mendoza-Caamal; Gerardo Leyva-Gómez; Norberto Leyva-García; Luis Velázquez-Pérez; Jonathan J Magaña
Journal:  Genes (Basel)       Date:  2022-01-16       Impact factor: 4.096

10.  A 20-year Clinical and Genetic Neuromuscular Cohort Analysis in Lebanon: An International Effort.

Authors:  Andre Megarbane; Sami Bizzari; Asha Deepthi; Sandra Sabbagh; Hicham Mansour; Eliane Chouery; Ghassan Hmaimess; Rosette Jabbour; Cybel Mehawej; Saada Alame; Abeer Hani; Dana Hasbini; Ismat Ghanem; Salam Koussa; Mahmoud Taleb Al-Ali; Marc Obeid; Diana Bou Talea; Gerard Lefranc; Nicolas Lévy; France Leturcq; Stephany El Hayek; Valérie Delague; J Andoni Urtizberea
Journal:  J Neuromuscul Dis       Date:  2022
View more

北京卡尤迪生物科技股份有限公司 © 2022-2023.