The Genetic Landscape of Dystrophin Mutations in Italy: A Nationwide Study-Reference-Cited by-同舟云学术

The Genetic Landscape of Dystrophin Mutations in Italy: A Nationwide Study

Published:2020-03-03 Issue: Volume:11 Page:
ISSN:1664-8021
Container-title:Frontiers in Genetics
language:
Short-container-title:Front. Genet.

Author:

Neri Marcella,Rossi Rachele,Trabanelli Cecilia,Mauro Antonio,Selvatici Rita,Falzarano Maria Sofia,Spedicato Noemi,Margutti Alice,Rimessi Paola,Fortunato Fernanda,Fabris Marina,Gualandi Francesca,Comi Giacomo,Tedeschi Silvana,Seia Manuela,Fiorillo Chiara,Traverso Monica,Bruno Claudio,Giardina Emiliano,Piemontese Maria Rosaria,Merla Giuseppe,Cau Milena,Marica Monica,Scuderi Carmela,Borgione Eugenia,Tessa Alessandra,Astrea Guia,Santorelli Filippo Maria,Merlini Luciano,Mora Marina,Bernasconi Pia,Gibertini Sara,Sansone Valeria,Mongini Tiziana,Berardinelli Angela,Pini Antonella,Liguori Rocco,Filosto Massimiliano,Messina Sonia,Vita Gianluca,Toscano Antonio,Vita Giuseppe,Pane Marika,Servidei Serenella,Pegoraro Elena,Bello Luca,Travaglini Lorena,Bertini Enrico,D'Amico Adele,Ergoli Manuela,Politano Luisa,Torella Annalaura,Nigro Vincenzo,Mercuri Eugenio,Ferlini Alessandra

Publisher

Frontiers Media SA

Subject

Genetics(clinical),Genetics,Molecular Medicine

Reference54 articles.

1. Entries in the Leiden Duchenne muscular dystrophy mutation database: an overview of mutation types and paradoxical cases that confirm the reading-frame rule;Aartsma-Rus;Muscle Nerve,2006

2. The importance of genetic diagnosis for Duchenne muscular dystrophy;Aartsma-Rus;J. Med. Genet.,2016

3. Development of exon skipping therapies for duchenne muscular dystrophy: a critical review and a perspective on the outstanding issues;Aartsma-Rus;Nucleic Acid Ther.,2017

4. Best practice guidelines on molecular diagnostics in Duchenne/Becker muscular dystrophies;Abbs;Neuromuscul. Disord.,2010

5. Correction to: splicing mutations in human genetic disorders: examples, detection, and confirmation;Abramowicz;J. Appl. Genet.,2019

Cited by 54 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. The Dutch Dystrophinopathy Database: A National Registry with Standardized Patient and Clinician Reported Real-World Data;Journal of Neuromuscular Diseases;2024-09-03

2. Métodos diagnósticos moleculares en enfermedades neuromusculares y neurodegenerativas de origen genético;Pediatría;2024-03-30

3. The complex landscape of DMD mutations: moving towards personalized medicine;Frontiers in Genetics;2024-03-26

4. A novel deep intronic variant introduce dystrophin pseudoexon in Becker muscular dystrophy: A case report;Heliyon;2024-03

5. Revision of splicing variants in theDMDgene;2024-02-02