Concepedia

C. Jimenez‐Mallebrera

CJ

58

Publications

3.6K

Citations

33

H-Index

1991

Active since

Affiliations

Hospital Sant Joan de Déu Barcelona(Current)

Centre for Biomedical Network Research on Rare Diseases

Instituto de Salud Carlos III

Universitat de Barcelona

Hammersmith Hospital

C. Jimenez‐Mallebrera is an author at Hospital Sant Joan de Déu Barcelona specializing in medicine, pathology, and cell biology.

ORCID

Top concepts

Publications per year

1991–2023

58

Publications

58

Refining genotype phenotype correlations in muscular dystrophies with defective glycosylation of dystroglycan

C. Godfrey, Emma Clement, R. Mein et al. · Brain · 2007 · 433 citations · Full text

GDF-15 Is Elevated in Children with Mitochondrial Diseases and Is Induced by Mitochondrial Dysfunction

Raquel Montero, Dèlia Yubero, Joan Villarroya et al. · PLoS ONE · 2016 · 172 citations · Full text

Hexosamine Biosynthetic Pathway Mutations Cause Neuromuscular Transmission Defect

Jan Senderek, Juliane Müller, Marina Dusl et al. · The American Journal of Human Genetics · 2011 · 171 citations · Full text

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Natural history of Ullrich congenital muscular dystrophy

Amélie Nadeau, Maria Kinali, Marion Main et al. · Neurology · 2009 · 158 citations

<i>Fukutin</i> gene mutations in steroid‐responsive limb girdle muscular dystrophy

Caroline Godfrey, Diana M. Escolar, Martin Brockington et al. · Annals of Neurology · 2006 · 158 citations

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