Concepedia

Lluı̈sa Vilageliu

LV

Statistics

Publications

60

Citations

2.1K

H-Index

30

Active since

1995

Affiliations

Universitat de Barcelona(Current)

Centre for Biomedical Network Research on Rare Diseases

Institut de Biomedicina de la Universitat de Barcelona

Instituto de Investigación de Enfermedades Raras

Institute of Child Health

Lluı̈sa Vilageliu is an author at Universitat de Barcelona specializing in life sciences, medical genetics, and genetics.

Publications per year

1995–2020

60

Publications

60

Glucocerebrosidase mutations confer a greater risk of dementia during Parkinson's disease course

Núria Setó‐Salvia, Javier Pagonabarraga, Henry Houlden et al. · Movement Disorders · 2011 · 155 citations

, , +14

Unusual expression of Gaucher's disease: cardiovascular calcifications in three sibs homozygous for the D409H mutation.

Amparo Chabás, Bru Cormand, Daniel Grinberg et al. · Journal of Medical Genetics · 1995 · 124 citations · Full text

, , +16

Cholesterol regulates Syntaxin 6 trafficking at the TGN-endosomal boundaries

Meritxell Reverter, Carles Rentero, Ana García-Melero et al. · Dipòsit Digital de la Universitat de Barcelona (Universitat de Barcelona) · 2014 · 103 citations · Full text

, , +17

Functional analysis of 13<i>GBA</i>mutant alleles identified in Gaucher disease patients: Pathogenic changes and “modifier” polymorphisms

Magda Montfort, Amparo Chabás, Lluı̈sa Vilageliu et al. · Human Mutation · 2004 · 90 citations · Full text

, , +17

Twenty-one novel mutations in the GLB1 gene identified in a large group of GM1-gangliosidosis and Morquio B patients: possible common origin for the prevalent p.R59H mutation among gypsies

Raül Santamaría, Amparo Chabás, María Josep Coll et al. · Human Mutation · 2006 · 73 citations · Full text

, , +13

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