11
TITLE: A new locus for autosomal recessive spastic paraplegia (SPG32) on chromosome 14q12-q21
AUTHORS: Stevanin, G; Paternotte, C; Coutinho, P ; Klebe, S; Elleuch, N; Loureiro, JL ; Denis, E; Cruz, VT ; Durr, A; Prud'homme, JF; Weissenbach, J; Brice, A; Hazan, J;
PUBLISHED: 2007, SOURCE: NEUROLOGY, VOLUME: 68, ISSUE: 21
INDEXED IN: Scopus WOS CrossRef
12
TITLE: Chapter 16 Overview on Hereditary Spastic Paraplegias
AUTHORS: Coutinho, P ; Loureiro, JL ;
PUBLISHED: 2007, SOURCE: Blue Books of Neurology, VOLUME: 31, ISSUE: C
INDEXED IN: Scopus CrossRef
IN MY: ORCID
13
TITLE: Chapter 19 Recessive Spastic Paraplegias
AUTHORS: Coutinho, P ; Loureiro, JL ;
PUBLISHED: 2007, SOURCE: Blue Books of Neurology, VOLUME: 31, ISSUE: C
INDEXED IN: Scopus CrossRef
IN MY: ORCID
14
TITLE: Mutations in SPG11, encoding spatacsin, are a major cause of spastic paraplegia with thin corpus callosum  Full Text
AUTHORS: Giovanni Stevanin; Filippo M Santorelli; Hamid Azzedine; Paula Coutinho ; Jacques Chomilier; Paola S Denora; Elodie Martin; Anne Marie Ouvrard Hernandez; Alessandra Tessa; Naima Bouslam; Alexander Lossos; Perrine Charles; Jose L Loureiro ; Nizar Elleuch; Christian Confavreux; Vitor T Cruz ; Merle Ruberg; Eric Leguern; Djamel Grid; Meriem Tazir; Bertrand Fontaine; Alessandro Filla; Enrico Bertini; Alexandra Durr; Alexis Brice; ...More
PUBLISHED: 2007, SOURCE: NATURE GENETICS, VOLUME: 39, ISSUE: 3
INDEXED IN: Scopus WOS CrossRef: 260
15
TITLE: Spastic paraplegia with thin corpus callosum: description of 20 new families, refinement of the SPG11 locus, candidate gene analysis and evidence of genetic heterogeneity  Full Text
AUTHORS: Giovanni Stevanin; Giorgia Montagna; Hamid Azzedine; Enza Maria Valente; Alexandra Durr; Valentina Scarano; Naima Bouslam; Denise Cassandrini; Paola S Denora; Chiara Criscuolo; Soraya Belarbi; Antonio Orlacchio; Philippe Jonveaux; Gabriella Silvestri; Anne Marie O Ouvrad Hernandez; Giuseppe De Michele; Meriem Tazir; Caterina Mariotti; Knut Brockmann; Alessandro Malandrini; Marjo S van der Knapp; Marcella Neri; Hassan Tonekaboni; Mariarosa A B Melone; Alessandra Tessa; Teresa T Dotti; Michela Tosetti; Flavia Pauri; Antonio Federico; Carlo Casali; Vitor T Cruz ; Jos L Loureiro ; Federico Zara; Sylvie Forlani; Enrico Bertini; Paula Coutinho ; Alessandro Filla; Alexis Brice; Filippo M Santorelli; ...More
PUBLISHED: 2006, SOURCE: NEUROGENETICS, VOLUME: 7, ISSUE: 3
INDEXED IN: Scopus WOS CrossRef: 35
16
TITLE: Clinical heterogeneity of autosomal recessive spastic paraplegias - Analysis of 106 patients in 46 families. Analysis of 106 Patients in 46 Families
AUTHORS: Coutinho, P ; Barros, José ; Zemmouri, R; Guimaraes, J; Alves, C; Chorao, R; Lourenco, E; Ribeiro, P; Loureiro, JL ; Santos, JV; Hamri, A; Paternotte, C; Hazan, J; Silva, MC ; Prud'homme, JF; Grid, D;
PUBLISHED: 1999, SOURCE: ARCHIVES OF NEUROLOGY, VOLUME: 56, ISSUE: 8
INDEXED IN: Scopus WOS CrossRef: 59
17
TITLE: CORRELATION BETWEEN CAG REPEAT LENGTH AND CLINICAL-FEATURES IN MACHADO-JOSEPH DISEASE
AUTHORS: MACIEL, P ; GASPAR, C; DESTEFANO, AL; SILVEIRA, I ; COUTINHO, P ; RADVANY, J; DAWSON, DM; SUDARSKY, L; GUIMARAES, J; LOUREIRO, JEL ; NEZARATI, MM; CORWIN, LI; LOPESCENDES, I; ROOKE, K; ROSENBERG, R; MACLEOD, P; FARRER, LA; SEQUEIROS, J ; ROULEAU, GA;
PUBLISHED: 1995, SOURCE: AMERICAN JOURNAL OF HUMAN GENETICS, VOLUME: 57, ISSUE: 1
INDEXED IN: Scopus WOS
18
TITLE: MACHADO-JOSEPH DISEASE IS GENETICALLY DIFFERENT FROM HOLGUIN DOMINANT ATAXIA (SCA2)  Full Text
AUTHORS: SILVEIRA, I ; MANAIA, A; MELKI, J; MAGARINO, C; LUNKES, A; HERNANDEZ, A; GISPERT, S; BURLET, P; ROZET, JM; COUTINHO, P ; LOUREIRO, JEL ; GUIMARAES, J; AUBURGER, G; MUNNICH, A; SEQUEIROS, J ;
PUBLISHED: 1993, SOURCE: GENOMICS, VOLUME: 17, ISSUE: 3
INDEXED IN: Scopus WOS
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