J
José Leal Loureiro
Researcher at University of Porto
Publications - 32
Citations - 2034
José Leal Loureiro is an academic researcher from University of Porto. The author has contributed to research in topics: Hereditary spastic paraplegia & Population. The author has an hindex of 19, co-authored 32 publications receiving 1746 citations. Previous affiliations of José Leal Loureiro include Institute of Business & Medical Careers & Instituto de Biologia Molecular e Celular.
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Journal ArticleDOI
Mutations in SPG11, encoding spatacsin, are a major cause of spastic paraplegia with thin corpus callosum
Giovanni Stevanin,Filippo M. Santorelli,Hamid Azzedine,Hamid Azzedine,Paula Coutinho,Jacques Chomilier,Paola S. Denora,Elodie Martin,Elodie Martin,Anne Marie Ouvrard-Hernandez,Alessandra Tessa,Naima Bouslam,Naima Bouslam,Alexander Lossos,Perrine Charles,José Leal Loureiro,N. Elleuch,N. Elleuch,Christian Confavreux,Vítor Tedim Cruz,Merle Ruberg,Merle Ruberg,Eric LeGuern,Eric LeGuern,D. Grid,Meriem Tazir,Bertrand Fontaine,Bertrand Fontaine,Alessandro Filla,Enrico Bertini,Alexandra Durr,Alexandra Durr,Alexis Brice +32 more
TL;DR: Ten mutations in a previously unidentified gene expressed ubiquitously in the nervous system but most prominently in the cerebellum, cerebral cortex, hippocampus and pineal gland are identified, suggesting a loss-of-function mechanism in ARHSP.
Journal Article
Correlation between CAG repeat length and clinical features in Machado-Joseph disease
Patrícia Maciel,Patrícia Maciel,Claudia Gaspar,Claudia Gaspar,Anita L. DeStefano,Isabel Silveira,Isabel Silveira,Paula Coutinho,João Radvany,David M. Dawson,David M. Dawson,Lewis Sudarsky,Lewis Sudarsky,João Guimarães,José Leal Loureiro,Marjan M. Nezarati,Lee I. Corwin,Iscia Lopes-Cendes,Karen Rooke,Roger N. Rosenberg,Patrick MacLeod,Lindsay A. Farrer,Jorge Sequeiros,Guy A. Rouleau +23 more
TL;DR: There is mild instability of the CAG tract length with transmission of the expanded alleles; both increase and decrease in size between parents and progeny occur, with larger variations in male than in female transmissions.
Journal ArticleDOI
Mutations in SPG11 are frequent in autosomal recessive spastic paraplegia with thin corpus callosum, cognitive decline and lower motor neuron degeneration.
Giovanni Stevanin,Hamid Azzedine,Paola S. Denora,Amir Boukhris,Meriem Tazir,Alexander Lossos,Alberto Luis Rosa,Israela Lerer,Abdelmadjid Hamri,Paulo Alegria,José Leal Loureiro,Masayoshi Tada,Didier Hannequin,Mathieu Anheim,Cyril Goizet,Victoria Gonzalez-Martinez,Isabelle Le Ber,Sylvie Forlani,Kiyoshi Iwabuchi,Vardiela Meiner,G. Uyanik,Anne Kjersti Erichsen,Imed Feki,Florence Pasquier,Soreya Belarbi,Vítor Tedim Cruz,Christel Depienne,Jeremy Truchetto,Guillaume Garrigues,Chantal M. E. Tallaksen,Christine Tranchant,Masatoyo Nishizawa,José Vale,Paula Coutinho,Filippo M. Santorelli,Chokri Mhiri,Alexis Brice,Alexandra Durr +37 more
TL;DR: The study reveals the high frequency of SPG11 mutations in patients with HSP, a TCC and cognitive impairment, including in isolated patients, and extends the associated phenotype.
Journal ArticleDOI
Loss of Function of Glucocerebrosidase GBA2 Is Responsible for Motor Neuron Defects in Hereditary Spastic Paraplegia
Elodie Martin,Rebecca Schüle,Katrien Smets,Agnès Rastetter,Amir Boukhris,José Leal Loureiro,Michael A. Gonzalez,Emeline Mundwiller,Tine Deconinck,Marc Wessner,Ludmila Jornea,Ludmila Jornea,Ludmila Jornea,Andrés Caballero Oteyza,Alexandra Durr,Jean Jacques Martin,Ludger Schöls,Chokri Mhiri,Foudil Lamari,Stephan Züchner,Peter De Jonghe,Edor Kabashi,Edor Kabashi,Edor Kabashi,Alexis Brice,Giovanni Stevanin +25 more
TL;DR: The role of ceramide metabolism in HSP pathology is highlighted, with next-generation sequencing in three independent families finding four different mutations in GBA2 (three truncating variants and one missense variant) found to cosegregate with the disease and were absent in controls.
Journal ArticleDOI
Alteration of Ganglioside Biosynthesis Responsible for Complex Hereditary Spastic Paraplegia
Amir Boukhris,Amir Boukhris,Rebecca Schüle,José Leal Loureiro,Charles Marques Lourenço,Emeline Mundwiller,Michael A. Gonzalez,Perrine Charles,Julie Gauthier,Imen Rekik,Rafael F. Acosta Lebrigio,Marion Gaussen,Fiorella Speziani,Andreas Ferbert,Imed Feki,Andrés Caballero-Oteyza,Alexandre Dionne-Laporte,Mohamed Amri,Anne Noreau,Sylvie Forlani,Sylvie Forlani,Sylvie Forlani,Vítor Tedim Cruz,Fanny Mochel,Paula Coutinho,Patrick A. Dion,Patrick A. Dion,Chokri Mhiri,Ludger Schöls,Jean Pouget,Frédéric Darios,Frédéric Darios,Frédéric Darios,Guy A. Rouleau,Wilson Marques,Alexis Brice,Alexandra Durr,Stephan Züchner,Giovanni Stevanin +38 more
TL;DR: Interestingly, although the catabolism of gangliosides is implicated in a variety of neurological diseases, SPG26 is only the second human disease involving defects of their biosynthesis, and these findings confirm the increasing interest of lipid metabolism in HSPs.