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José Eduardo Portugal Leal de Loureiro
AuthID:
R-000-89F
Publications
Confirmed
To Validate
Document Source:
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Document Type:
All Document Types
Article (18)
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Order:
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Cit. WOS Dsc
IF WOS Dsc
Cit. Scopus Dsc
IF Scopus Dsc
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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
TITLE:
Hereditary Ataxia and Spastic Paraplegia in Portugal A Population-Based Prevalence Study. A Population-Based Prevalence Study
AUTHORS:
Paula Coutinho
;
Luis Ruano
;
Jose L Loureiro
;
Vitor T Cruz
;
Barros, José
;
Assuncao Tuna
;
Clara Barbot
; Joao Guimaraes;
Isabel Alonso
;
Isabel Silveira
;
Jorge Sequeiros
; Jose Marques Neves; Pedro Serrano;
Carolina Silva
;
PUBLISHED:
2013
,
SOURCE:
JAMA NEUROLOGY,
VOLUME:
70,
ISSUE:
6
INDEXED IN:
Scopus
WOS
CrossRef
:
94
IN MY:
ORCID
|
ResearcherID
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
TITLE:
Alu elements mediate large SPG11 gene rearrangements: further spatacsin mutations
AUTHORS:
Maria Conceicao Pereira
;
Jose Leal Loureiro
;
Jorge Pinto Basto
;
Eva Brandao
;
Ana Margarida Lopes
;
Georgina Neves
; Pureza Dias;
Ruth Geraldes
;
Isabel Pavao Martins
;
Vitor Tedim Cruz
;
Erik Jan Kamsteeg
;
Han G Brunner
;
Paula Coutinho
;
Jorge Sequeiros
;
Isabel Alonso
;
PUBLISHED:
2012
,
SOURCE:
GENETICS IN MEDICINE,
VOLUME:
14,
ISSUE:
1
INDEXED IN:
Scopus
WOS
CrossRef
:
22
IN MY:
ORCID
|
ResearcherID
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
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