Concepedia

Laura Martí‐Sánchez

LM

8

Publications

298

Citations

8

H-Index

2017

Active since

Affiliations

Hospital Sant Joan de Déu Barcelona(Current)

Universitat Autònoma de Barcelona

Universitat de Barcelona

Instituto de Salud Carlos III

Vall d'Hebron Hospital Universitari

Laura Martí‐Sánchez is an author at Hospital Sant Joan de Déu Barcelona specializing in health sciences, movement disorders, and motor control.

ORCID

Top concepts

Publications per year

2017–2022

8

Publications

8

Genetic, Phenotypic, and Interferon Biomarker Status in ADAR1-Related Neurological Disease

Gillian Rice, Naoki Kitabayashi, Magalie Barth et al. · Neuropediatrics · 2017 · 90 citations · Full text

Hypermanganesemia due to mutations in SLC39A14: further insights into Mn deposition in the central nervous system

Laura Martí‐Sánchez, Juan Darío Ortigoza‐Escobar, Alejandra Darling et al. · Orphanet Journal of Rare Diseases · 2018 · 68 citations · Full text

Delineating the neurological phenotype in children with defects in the <scp><i>ECHS1</i></scp> or <scp><i>HIBCH</i></scp> gene

Laura Martí‐Sánchez, Heidy Baide‐Mairena, Anna Marcé‐Grau et al. · Journal of Inherited Metabolic Disease · 2020 · 38 citations

Clinical rating scale for pantothenate kinase‐associated neurodegeneration: A pilot study

Alejandra Darling, Cristina Tello, M. J. Martí et al. · Movement Disorders · 2017 · 28 citations · Full text

CPEB alteration and aberrant transcriptome-polyadenylation lead to a treatable SLC19A3 deficiency in Huntington’s disease

Sara Picó, Alberto Parras, María Santos‐Galindo et al. · Science Translational Medicine · 2021 · 27 citations

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