Giovanni Stevanin
AuthID: R-00F-F45
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TITLE: Mutational Origin of Machado-Joseph Disease in the Australian Aboriginal Communities of Groote Eylandt and Yirrkala
AUTHORS: Sandra Martins ; Bing Wen Soong; Virginia C N Wong; Paola Giunti; Giovanni Stevanin; Laura P W Ranum; Hidenao Sasaki; Olaf Riess; Shoji Tsuji; Paula Coutinho ; Amorim, Antonio ; Jorge Sequeiros ; Garth A Nicholson;
PUBLISHED: 2012, SOURCE: ARCHIVES OF NEUROLOGY, VOLUME: 69, ISSUE: 6
AUTHORS: Sandra Martins ; Bing Wen Soong; Virginia C N Wong; Paola Giunti; Giovanni Stevanin; Laura P W Ranum; Hidenao Sasaki; Olaf Riess; Shoji Tsuji; Paula Coutinho ; Amorim, Antonio ; Jorge Sequeiros ; Garth A Nicholson;
PUBLISHED: 2012, SOURCE: ARCHIVES OF NEUROLOGY, VOLUME: 69, ISSUE: 6
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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; ...More
PUBLISHED: 2009, SOURCE: NEUROLOGY, VOLUME: 73, ISSUE: 14
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; ...More
PUBLISHED: 2009, SOURCE: NEUROLOGY, VOLUME: 73, ISSUE: 14
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TITLE: CYP7B1 mutations in pure and complex forms of hereditary spastic paraplegia type 5 Full Text
AUTHORS: Cyril Goizet; Amir Boukhris; Alexandra Durr; Christian Beetz; Jeremy Truchetto; Christelle Tesson; Maria Tsaousidou; Sylvie Forlani; Lucie Guyant Marechal; Bertrand Fontaine; Joao Guimaraes; Bertrand Isidor; Olivier Chazouilleres; Dominique Wendum; Djamel Grid; Francoise Chevy; Patrick F Chinnery; Paula Coutinho ; Jean Philippe Azulay; Imed Feki; ...More
PUBLISHED: 2009, SOURCE: BRAIN, VOLUME: 132, ISSUE: 6
AUTHORS: Cyril Goizet; Amir Boukhris; Alexandra Durr; Christian Beetz; Jeremy Truchetto; Christelle Tesson; Maria Tsaousidou; Sylvie Forlani; Lucie Guyant Marechal; Bertrand Fontaine; Joao Guimaraes; Bertrand Isidor; Olivier Chazouilleres; Dominique Wendum; Djamel Grid; Francoise Chevy; Patrick F Chinnery; Paula Coutinho ; Jean Philippe Azulay; Imed Feki; ...More
PUBLISHED: 2009, SOURCE: BRAIN, VOLUME: 132, ISSUE: 6
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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; ...More
PUBLISHED: 2008, SOURCE: BRAIN, VOLUME: 131, ISSUE: 3
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; ...More
PUBLISHED: 2008, SOURCE: BRAIN, VOLUME: 131, ISSUE: 3
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TITLE: Asian origin for the worldwide-spread mutational event in Machado-Joseph disease
AUTHORS: Sandra Martins ; Francesc Calafell; Claudia Gaspar; Virginia C N Wong; Isabel Silveira ; Garth A Nicholson; Ewout R Brunt; Lisbeth Tranebjaerg; Giovanni Stevanin; Mingli Hsieh; Bing Wen Soong; Leal Loureiro; Alexandra Duerr; Shoji Tsuji; Mitsunori Watanabe; Laura B Jardim; Paola Giunti; Olaf Riess; Laura P W Ranum; Alexis Brice; ...More
PUBLISHED: 2007, SOURCE: ARCHIVES OF NEUROLOGY, VOLUME: 64, ISSUE: 10
AUTHORS: Sandra Martins ; Francesc Calafell; Claudia Gaspar; Virginia C N Wong; Isabel Silveira ; Garth A Nicholson; Ewout R Brunt; Lisbeth Tranebjaerg; Giovanni Stevanin; Mingli Hsieh; Bing Wen Soong; Leal Loureiro; Alexandra Duerr; Shoji Tsuji; Mitsunori Watanabe; Laura B Jardim; Paola Giunti; Olaf Riess; Laura P W Ranum; Alexis Brice; ...More
PUBLISHED: 2007, SOURCE: ARCHIVES OF NEUROLOGY, VOLUME: 64, ISSUE: 10
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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; ...More
PUBLISHED: 2007, SOURCE: NATURE GENETICS, VOLUME: 39, ISSUE: 3
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; ...More
PUBLISHED: 2007, SOURCE: NATURE GENETICS, VOLUME: 39, ISSUE: 3
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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; ...More
PUBLISHED: 2006, SOURCE: NEUROGENETICS, VOLUME: 7, ISSUE: 3
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; ...More
PUBLISHED: 2006, SOURCE: NEUROGENETICS, VOLUME: 7, ISSUE: 3
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TITLE: Atlastin1 mutations are frequent in young-onset autosomal dominant spastic paraplegia
AUTHORS: Durr, A; Camuzat, AS; Colin, E; Tallaksen, C; Hannequin, D; Coutinho, P ; Fontaine, B; Rossi, A; Gil, R; Rousselle, C; Ruberg, M; Stevanin, G; Brice, A;
PUBLISHED: 2004, SOURCE: ARCHIVES OF NEUROLOGY, VOLUME: 61, ISSUE: 12
AUTHORS: Durr, A; Camuzat, AS; Colin, E; Tallaksen, C; Hannequin, D; Coutinho, P ; Fontaine, B; Rossi, A; Gil, R; Rousselle, C; Ruberg, M; Stevanin, G; Brice, A;
PUBLISHED: 2004, SOURCE: ARCHIVES OF NEUROLOGY, VOLUME: 61, ISSUE: 12
INDEXED IN: 
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TITLE: Frequency and phenotypic spectrum of ataxia with oculomotor apraxia 2: a clinical and genetic study in 18 patients Full Text
AUTHORS: Le Ber, I; Bouslam, N; Rivaud Pechoux, S; Guimaraes, J; Benomar, A; Chamayou, C; Goizet, C; Moreira, MC; Klur, S; Yahyaoui, M; Agid, Y; Koenig, M; Stevanin, G; Brice, A; Durr, A;
PUBLISHED: 2004, SOURCE: BRAIN, VOLUME: 127, ISSUE: 4
AUTHORS: Le Ber, I; Bouslam, N; Rivaud Pechoux, S; Guimaraes, J; Benomar, A; Chamayou, C; Goizet, C; Moreira, MC; Klur, S; Yahyaoui, M; Agid, Y; Koenig, M; Stevanin, G; Brice, A; Durr, A;
PUBLISHED: 2004, SOURCE: BRAIN, VOLUME: 127, ISSUE: 4
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TITLE: Senataxin, the ortholog of a yeast RNA helicase, is mutant in ataxia-ocular apraxia 2 Full Text
AUTHORS: Moreira, MC; Klur, S; Watanabe, M; Nemeth, AH; Le Ber, I; Moniz, JC; Tranchant, C; Aubourg, P; Tazir, M; Schols, L; Pandolfo, M; Schulz, JB; Pouget, J; Calvas, P; Shizuka Ikeda, M; Shoji, M; Tanaka, M; Izatt, L; Shaw, CE; M'Zahem, A; ...More
PUBLISHED: 2004, SOURCE: NATURE GENETICS, VOLUME: 36, ISSUE: 3
AUTHORS: Moreira, MC; Klur, S; Watanabe, M; Nemeth, AH; Le Ber, I; Moniz, JC; Tranchant, C; Aubourg, P; Tazir, M; Schols, L; Pandolfo, M; Schulz, JB; Pouget, J; Calvas, P; Shizuka Ikeda, M; Shoji, M; Tanaka, M; Izatt, L; Shaw, CE; M'Zahem, A; ...More
PUBLISHED: 2004, SOURCE: NATURE GENETICS, VOLUME: 36, ISSUE: 3
