Concepedia

A. Nascimento

AN

Statistics

Publications

90

Citations

4.6K

H-Index

39

Active since

2005

Affiliations

Hospital Sant Joan de Déu Barcelona(Current)

Centre for Biomedical Network Research on Rare Diseases

Instituto de Salud Carlos III

Universitat de Barcelona

Institut de Recerca Sant Joan de Déu

A. Nascimento is an author at Hospital Sant Joan de Déu Barcelona specializing in life sciences, genetics, and genetic disorders.

ORCID

Publications per year

2005–2024

90

Publications

90

De novo <i>LMNA</i> mutations cause a new form of congenital muscular dystrophy

Susana Quijano‐Roy, Blaise Mbieleu, Carsten G. Bönnemann et al. · Annals of Neurology · 2008 · 282 citations

, , +12

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 · 176 citations · Full text

, , +12

Hexosamine Biosynthetic Pathway Mutations Cause Neuromuscular Transmission Defect

Jan Senderek, Juliane Müller, Marina Dusl et al. · The American Journal of Human Genetics · 2011 · 173 citations · Full text

, , +10

Genes for hereditary sensory and autonomic neuropathies: a genotype-phenotype correlation

Annelies Rotthier, Jonathan Baets, Els De Vriendt et al. · Brain · 2009 · 166 citations · Full text

, , +16

Cerebral folate deficiency and leukoencephalopathy caused by a mitochondrial DNA deletion

Merçè Pineda, Aída Ormazábal, Ester López‐Gallardo et al. · Annals of Neurology · 2005 · 158 citations

, , +17

1–5 of 90