José Eduardo Portugal Leal de Loureiro


AuthID: R-000-89F

Confirmed Publications: 18



1
TITLE: Alteration of Ganglioside Biosynthesis Responsible for Complex Hereditary Spastic Paraplegia
AUTHORS: Amir Boukhris; Rebecca Schule; Jose L Loureiro ; Charles Marques Lourenco; Emeline Mundwiller; Michael A Gonzalez; Perrine Charles; Julie Gauthier; Imen Rekik; Rafael F A Acosta Lebrigio; Marion Gaussen; Fiorella Speziani; Andreas Ferbert; Imed Feki; Andres Caballero Oteyza; Alexandre Dionne Laporte; Mohamed Amri; Anne Noreau; Sylvie Forlani; Vitor T Cruz ; Fanny Mochel; Paula Coutinho ; Patrick Dion; Chokri Mhiri; Ludger Schols; Jean Pouget; Frederic Darios; Guy A Rouleau; Wilson Marques; Alexis Brice; Alexandra Durr; Stephan Zuchner; Giovanni Stevanin; ...More
PUBLISHED: 2013, SOURCE: AMERICAN JOURNAL OF HUMAN GENETICS, VOLUME: 93, ISSUE: 1
INDEXED IN: Scopus WOS CrossRef: 145
IN MY: ORCID | ResearcherID
2
TITLE: Anterior biopercular syndrome caused by unilateral infarction [Sindrome biopercular anterior devido a enfarte unilateral]
AUTHORS: Brandao, E; Ferreira, A; Leal Loureiro, J ;
PUBLISHED: 2013, SOURCE: Acta Medica Portuguesa, VOLUME: 26, ISSUE: 2
INDEXED IN: Scopus
IN MY: ORCID
3
TITLE: Autosomal Dominant Spastic Paraplegias A Review of 89 Families Resulting From a Portuguese Survey. A Review of 89 Families Resulting From a Portuguese Survey
AUTHORS: Loureiro, JL ; Brandao, E; Ruano, L ; Brandao, AF; Lopes, AM; Thieleke Matos, C; Miller Fleming, L; Cruz, VT ; Barbosa, M; Silveira, I ; Stevanin, G; Pinto Basto, J; Sequeiros, J ; Alonso, I ; Coutinho, P ;
PUBLISHED: 2013, SOURCE: JAMA NEUROLOGY, VOLUME: 70, ISSUE: 4
INDEXED IN: Scopus WOS CrossRef: 46
IN MY: ORCID | ResearcherID
4
5
TITLE: Loss of Function of Glucocerebrosidase GBA2 Is Responsible for Motor Neuron Defects in Hereditary Spastic Paraplegia
AUTHORS: Elodie Martin; Rebecca Schuele; Katrien Smets; Agnes Rastetter; Amir Boukhris; Jose L Loureiro ; Michael A Gonzalez; Emeline Mundwiller; Tine Deconinck; Marc Wessner; Ludmila Jornea; Andres Caballero Oteyza; Alexandra Durr; Jean Jacques Martin; Ludger Schoels; Chokri Mhiri; Foudil Lamari; Stephan Zuechner; Peter De Jonghe; Edor Kabashi; Alexis Brice; Giovanni Stevanin; ...More
PUBLISHED: 2013, SOURCE: AMERICAN JOURNAL OF HUMAN GENETICS, VOLUME: 92, ISSUE: 2
INDEXED IN: Scopus WOS CrossRef
IN MY: ORCID | ResearcherID
6
TITLE: PLEKHG5 deficiency leads to an intermediate form of autosomal-recessive CharcotMarieTooth disease
AUTHORS: Hamid Azzedine; Petra Zavadakova; Violaine Plante Bordeneuve; Maria Vaz Pato; Nuno Pinto; Luca Bartesaghi; Jennifer Zenker; Olivier Poirot; Nathalie Bernard Marissal; Estelle Arnaud Gouttenoire; Romain Cartoni; Alexandra Title; Giulia Venturini; Jean Jacques Medard; Edward Makowski; Ludger Schoels; Kristl G Claeys; Claudia Stendel; Andreas Roos; Joachim Weis; Odile Dubourg; Jose Leal Loureiro ; Giovanni Stevanin; Gerard Said; Anthony Amato; Jay Baraban; Eric LeGuern; Jan Senderek; Carlo Rivolta; Roman Chrast; ...More
PUBLISHED: 2013, SOURCE: HUMAN MOLECULAR GENETICS, VOLUME: 22, ISSUE: 20
INDEXED IN: Scopus WOS CrossRef: 10
IN MY: ORCID | ResearcherID
7
8
TITLE: Novel SPG3A and SPG4 mutations in dominant spastic paraplegia families  Full Text
AUTHORS: Loureiro, JL ; Miller Fleming, L; Thieleke Matos, C; Magalhaes, P; Cruz, VT ; Coutinho, P ; Sequeiros, J ; Silveira, I ;
PUBLISHED: 2009, SOURCE: ACTA NEUROLOGICA SCANDINAVICA, VOLUME: 119, ISSUE: 2
INDEXED IN: Scopus WOS CrossRef: 14
IN MY: ORCID | ResearcherID
9
TITLE: SPG15 is the second most common cause of hereditary spastic paraplegia with thin corpus callosum
AUTHORS: Goizet, C; Boukhris, A; Maltete, D; Guyant Marechal, L; Truchetto, J; Mundwiller, E; Hanein, S; Jonveaux, P; Roelens, F; Loureiro, J ; Godet, E; Forlani, S; Melki, J; Auer Grumbach, M; Fernandez, JC; Martin Hardy, P; Sibon, I; Sole, G; Orignac, I; Mhiri, C; Coutinho, P ; Durr, A; Brice, A; Stevanin, G; ...More
PUBLISHED: 2009, SOURCE: NEUROLOGY, VOLUME: 73, ISSUE: 14
INDEXED IN: Scopus WOS CrossRef
IN MY: ORCID | ResearcherID
10
TITLE: Mutations in SPG11 are frequent in autosomal recessive spastic paraplegia with thin corpus callosum, cognitive decline and lower motor neuron degeneration  Full Text
AUTHORS: Giovanni Stevanin; Hamid Azzedine; Paola Denora; Amir Boukhris; Meriem Tazir; Alexander Lossos; Alberto Luis Rosa; Israela Lerer; Abdelmadjid Hamri; Paulo Alegria; Jose Loureiro ; Masayoshi Tada; Didier Hannequin; Mathieu Anheim; Cyril Goizet; Victoria Gonzalez Martinez; Isabelle Le Ber; Sylvie Forlani; Kiyoshi Iwabuchi; Vardiela Meiner; Goekhan Uyanik; Anne Kjersti Erichsen; Imed Feki; Florence Pasquier; Soreya Belarbi; Vitor T Cruz ; Christel Depienne; Jeremy Truchetto; Guillaume Garrigues; Chantal Tallaksen; Christine Tranchant; Masatoyo Nishizawa; Jose Vale; Paula Coutinho ; Filippo M Santorelli; Chokri Mhiri; Alexis Brice; Alexandra Durr; ...More
PUBLISHED: 2008, SOURCE: BRAIN, VOLUME: 131, ISSUE: 3
INDEXED IN: Scopus WOS CrossRef: 180
IN MY: ORCID | ResearcherID
Page 1 of 2. Total results: 18.

footer slogan

Useful Links

Get Help

© 2024 CRACS & Inesc TEC - All Rights Reserved Privacy Policy | Terms of Service