Literature DB >> 33567614

Special Issue "Genetic Advances in Neuromuscular Disorders: From Gene Identification to Gene Therapy".

Virginia Arechavala-Gomeza1,2, Lidia Gonzalez-Quereda3.   

Abstract

Since the gene responsible for Duchenne muscular dystrophy was first described in 1987 [...].

Entities:  

Mesh：

Year:  2021        PMID： 33567614      PMCID： PMC7915748          DOI： 10.3390/genes12020242

Source DB:  PubMed          Journal:  Genes (Basel)        ISSN： 2073-4425            Impact factor:   4.096


  17 in total

1.  The Need for Establishing a Universal CTG Sizing Method in Myotonic Dystrophy Type 1.

Authors:  Alfonsina Ballester-Lopez; Ian Linares-Pardo; Emma Koehorst; Judit Núñez-Manchón; Guillem Pintos-Morell; Jaume Coll-Cantí; Miriam Almendrote; Giuseppe Lucente; Andrea Arbex; Jonathan J Magaña; Nadia M Murillo-Melo; Alejandro Lucia; Darren G Monckton; Sarah A Cumming; Alba Ramos-Fransi; Alicia Martínez-Piñeiro; Gisela Nogales-Gadea
Journal:  Genes (Basel)       Date:  2020-07-07       Impact factor: 4.096

2.  Four Individuals with a Homozygous Mutation in Exon 1f of the PLEC Gene and Associated Myasthenic Features.

Authors:  Magdalena Mroczek; Hacer Durmus; Ana Töpf; Yesim Parman; Volker Straub
Journal:  Genes (Basel)       Date:  2020-06-27       Impact factor: 4.096

3.  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

4.  Preliminary Findings on CTG Expansion Determination in Different Tissues from Patients with Myotonic Dystrophy Type 1.

Authors:  Alfonsina Ballester-Lopez; Emma Koehorst; Ian Linares-Pardo; Judit Núñez-Manchón; Miriam Almendrote; Giuseppe Lucente; Andrea Arbex; Carles Puente; Alejandro Lucia; Darren G Monckton; Sarah A Cumming; Guillem Pintos-Morell; Jaume Coll-Cantí; Alba Ramos-Fransi; Alicia Martínez-Piñeiro; Gisela Nogales-Gadea
Journal:  Genes (Basel)       Date:  2020-11-07       Impact factor: 4.096

5.  Two New Cases of Hypertrophic Cardiomyopathy and Skeletal Muscle Features Associated with ALPK3 Homozygous and Compound Heterozygous Variants.

Authors:  John Jorholt; Yulia Formicheva; Tatyana Vershinina; Artem Kiselev; Alexey Muravyev; Elena Demchenko; Petr Fedotov; Anna Zlotina; Anton Rygkov; Elena Vasichkina; Thomas Sejersen; Anna Kostareva
Journal:  Genes (Basel)       Date:  2020-10-15       Impact factor: 4.096

6.  LMNA Mutations G232E and R482L Cause Dysregulation of Skeletal Muscle Differentiation, Bioenergetics, and Metabolic Gene Expression Profile.

Authors:  Elena V Ignatieva; Oksana A Ivanova; Margarita Y Komarova; Natalia V Khromova; Dmitrii E Polev; Anna A Kostareva; Alexey Sergushichev; Renata I Dmitrieva
Journal:  Genes (Basel)       Date:  2020-09-07       Impact factor: 4.096

Review 7.  Therapeutic Strategies for Duchenne Muscular Dystrophy: An Update.

Authors:  Chengmei Sun; Luoan Shen; Zheng Zhang; Xin Xie
Journal:  Genes (Basel)       Date:  2020-07-23       Impact factor: 4.096

8.  Circulating miR-206 as a Biomarker for Patients Affected by Severe Limb Girdle Muscle Dystrophies.

Authors:  Valentina Pegoraro; Corrado Angelini
Journal:  Genes (Basel)       Date:  2021-01-12       Impact factor: 4.096

Review 9.  CRISPR-Generated Animal Models of Duchenne Muscular Dystrophy.

Authors:  Kenji Rowel Q Lim; Quynh Nguyen; Kasia Dzierlega; Yiqing Huang; Toshifumi Yokota
Journal:  Genes (Basel)       Date:  2020-03-24       Impact factor: 4.096

10.  A Novel Missense Variant Associated with A Splicing Defect in A Myopathic Form of PGK1 Deficiency in The Spanish Population.

Authors:  Virginia Garcia-Solaesa; Pablo Serrano-Lorenzo; Maria Antonia Ramos-Arroyo; Alberto Blázquez; Inmaculada Pagola-Lorz; Mercè Artigas-López; Joaquín Arenas; Miguel A Martín; Ivonne Jericó-Pascual
Journal:  Genes (Basel)       Date:  2019-10-10       Impact factor: 4.096
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