Literature DB >> 30119719

Genetic therapies for inherited neuromuscular disorders.

Mariacristina Scoto1, Richard Finkel2, Eugenio Mercuri3, Francesco Muntoni4.   

Abstract

Inherited neuromuscular disorders encompass a broad group of genetic conditions, and the discovery of these underlying genes has expanded greatly in the past three decades. The discovery of such genes has enabled more precise diagnosis of these disorders and the development of specific therapeutic approaches that target the genetic basis and pathophysiological pathways. Such translational research has led to the approval of two genetic therapies by the US Food and Drug Administration: eteplirsen for Duchenne muscular dystrophy and nusinersen for spinal muscular atrophy, which are both antisense oligonucleotides that modify pre-mRNA splicing. In this Review we aim to discuss new genetic therapies and ongoing clinical trials for Duchenne muscular dystrophy, spinal muscular atrophy, and other less common childhood neuromuscular disorders.
Copyright © 2018 Elsevier Ltd. All rights reserved.

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Year:  2018        PMID: 30119719     DOI: 10.1016/S2352-4642(18)30140-8

Source DB:  PubMed          Journal:  Lancet Child Adolesc Health        ISSN: 2352-4642


  14 in total

1.  Reducing the Toxicity of Designer Aminoglycosides as Nonsense Mutation Readthrough Agents for Therapeutic Targets.

Authors:  Michael Popadynec; Alireza Baradaran-Heravi; Benjamin Alford; Scott A Cameron; Keith Clinch; Jennifer M Mason; Phillip M Rendle; Olga V Zubkova; Zhonghong Gan; Hui Liu; Oscar Rebollo; Dennis M Whitfield; Fengyang Yan; Michel Roberge; David A Powell
Journal:  ACS Med Chem Lett       Date:  2021-08-09       Impact factor: 4.632

2.  Pericytes in Muscular Dystrophies.

Authors:  Louise Anne Moyle; Francesco Saverio Tedesco; Sara Benedetti
Journal:  Adv Exp Med Biol       Date:  2019       Impact factor: 2.622

3.  Tumor Necrosis Factor Receptor SF10A (TNFRSF10A) SNPs Correlate With Corticosteroid Response in Duchenne Muscular Dystrophy.

Authors:  Chiara Passarelli; Rita Selvatici; Alberto Carrieri; Francesca Romana Di Raimo; Maria Sofia Falzarano; Fernanda Fortunato; Rachele Rossi; Volker Straub; Katie Bushby; Mojgan Reza; Irina Zharaieva; Adele D'Amico; Enrico Bertini; Luciano Merlini; Patrizia Sabatelli; Paola Borgiani; Giuseppe Novelli; Sonia Messina; Marika Pane; Eugenio Mercuri; Mireille Claustres; Sylvie Tuffery-Giraud; Annemieke Aartsma-Rus; Pietro Spitali; Peter A C T'Hoen; Hanns Lochmüller; Kristin Strandberg; Cristina Al-Khalili; Ekaterina Kotelnikova; Michael Lebowitz; Elena Schwartz; Francesco Muntoni; Chiara Scapoli; Alessandra Ferlini
Journal:  Front Genet       Date:  2020-07-03       Impact factor: 4.599

4.  "Be an ambassador for change that you would like to see": a call to action to all stakeholders for co-creation in healthcare and medical research to improve quality of life of people with a neuromuscular disease.

Authors:  Anna Ambrosini; Ros Quinlivan; Valeria A Sansone; Ingeborg Meijer; Guus Schrijvers; Aad Tibben; George Padberg; Maarten de Wit; Ellen Sterrenburg; Alexandre Mejat; Alexandra Breukel; Michal Rataj; Hanns Lochmüller; Raffaella Willmann
Journal:  Orphanet J Rare Dis       Date:  2019-06-07       Impact factor: 4.123

5.  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

6.  Comparison of the efficacy of MOE and PMO modifications of systemic antisense oligonucleotides in a severe SMA mouse model.

Authors:  Lei Sheng; Frank Rigo; C Frank Bennett; Adrian R Krainer; Yimin Hua
Journal:  Nucleic Acids Res       Date:  2020-04-06       Impact factor: 16.971

7.  Early childhood epilepsies: epidemiology, classification, aetiology, and socio-economic determinants.

Authors:  Joseph D Symonds; Katherine S Elliott; Jay Shetty; Martin Armstrong; Andreas Brunklaus; Ioana Cutcutache; Louise A Diver; Liam Dorris; Sarah Gardiner; Alice Jollands; Shelagh Joss; Martin Kirkpatrick; Ailsa McLellan; Stewart MacLeod; Mary O'Regan; Matthew Page; Elizabeth Pilley; Daniela T Pilz; Elma Stephen; Kirsty Stewart; Houman Ashrafian; Julian C Knight; Sameer M Zuberi
Journal:  Brain       Date:  2021-10-22       Impact factor: 13.501

8.  DMD/BMD prenatal diagnosis and treatment expectation in a single centre in China for 15 years.

Authors:  Xingjian Zhong; Siying Cui; Lina Liu; Yuxia Yang; Xiangdong Kong
Journal:  BMC Med Genomics       Date:  2021-07-08       Impact factor: 3.063

9.  Generation of two genomic-integration-free DMD iPSC lines with mutations affecting all dystrophin isoforms and potentially amenable to exon-skipping.

Authors:  Giulia Ferrari; Francesco Muntoni; Francesco Saverio Tedesco
Journal:  Stem Cell Res       Date:  2020-02-01       Impact factor: 2.020

10.  Editorial: Current and Future Developments in the Therapeutic Management of Neuromuscular Diseases.

Authors:  George K Papadimas; Roser Pons; Johanna Palmio
Journal:  Front Neurol       Date:  2022-01-17       Impact factor: 4.003

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