Giovanni Stevanin
AuthID: R-00F-F45
1
TITLE: Machado-Joseph disease in a Sudanese family links East Africa to Portuguese families and allows reestimation of ancestral age of the Machado lineage Full Text
AUTHORS: Martins, Sandra ; Yahia, Ashraf; Costa, Ines P. D.; Siddig, Hassab E.; Abubaker, Rayan; Koko, Mahmoud; Corral Juan, Marc; Matilla Duenas, Antoni; Brice, Alexis; Durr, Alexandra; Leguern, Eric; Ranum, Laura P. W.; Amorim, Antonio ; Elsayed, Liena E. O.; Stevanin, Giovanni; Sequeiros, Jorge;
PUBLISHED: 2023, SOURCE: HUMAN GENETICS, VOLUME: 142, ISSUE: 12
AUTHORS: Martins, Sandra ; Yahia, Ashraf; Costa, Ines P. D.; Siddig, Hassab E.; Abubaker, Rayan; Koko, Mahmoud; Corral Juan, Marc; Matilla Duenas, Antoni; Brice, Alexis; Durr, Alexandra; Leguern, Eric; Ranum, Laura P. W.; Amorim, Antonio ; Elsayed, Liena E. O.; Stevanin, Giovanni; Sequeiros, Jorge;
PUBLISHED: 2023, SOURCE: HUMAN GENETICS, VOLUME: 142, ISSUE: 12
2
TITLE: Update on the Genetics of Spastic Paraplegias
AUTHORS: Maxime Boutry; Sara Morais; Giovanni Stevanin;
PUBLISHED: 2019, SOURCE: CURRENT NEUROLOGY AND NEUROSCIENCE REPORTS, VOLUME: 19, ISSUE: 4
AUTHORS: Maxime Boutry; Sara Morais; Giovanni Stevanin;
PUBLISHED: 2019, SOURCE: CURRENT NEUROLOGY AND NEUROSCIENCE REPORTS, VOLUME: 19, ISSUE: 4
INDEXED IN: 
WOS
WOS3
TITLE: DNA Repair Pathways Underlie a Common Genetic Mechanism Modulating Onset in Polyglutamine Diseases. DNA Repair Pathways Modify polyQ Disease Onset Full Text
AUTHORS: Conceicao Bettencourt; Davina Hensman Moss; Michael Flower; Sarah Wiethoff; Alexis Brice; Cyril Goizet; Giovanni Stevanin; Georgios Koutsis; Georgia Karadima; Marios Panas; Petra Yescas Gomes; Lizbeth E Esmeralda Garcia Velazquez; Maria E Elisa Alonso Vilatela; Manuela Lima; Mafalda Raposo; Bryan Traynor; Mary Sweeney; Nicholas Wood; Paola Giunti; Alexandra Durr; ...More
PUBLISHED: 2016, SOURCE: ANNALS OF NEUROLOGY, VOLUME: 79, ISSUE: 6
AUTHORS: Conceicao Bettencourt; Davina Hensman Moss; Michael Flower; Sarah Wiethoff; Alexis Brice; Cyril Goizet; Giovanni Stevanin; Georgios Koutsis; Georgia Karadima; Marios Panas; Petra Yescas Gomes; Lizbeth E Esmeralda Garcia Velazquez; Maria E Elisa Alonso Vilatela; Manuela Lima; Mafalda Raposo; Bryan Traynor; Mary Sweeney; Nicholas Wood; Paola Giunti; Alexandra Durr; ...More
PUBLISHED: 2016, SOURCE: ANNALS OF NEUROLOGY, VOLUME: 79, ISSUE: 6
4
TITLE: Alteration of ornithine metabolism leads to dominant and recessive hereditary spastic paraplegia Full Text
AUTHORS: Marie Coutelier; Cyril Goizet; Alexandra Durr; Florence Habarou; Sara Morais; Alexandre Dionne Laporte; Feifei F Tao; Juliette Konop; Marion Stoll; Perrine Charles; Maxime Jacoupy; Raphael Matusiak; Isabel Alonso; Chantal Tallaksen; Mathilde Mairey; Marina Kennerson; Marion Gaussen; Rebecca Schule; Maxime Janin; Fanny Morice Picard; ...More
PUBLISHED: 2015, SOURCE: BRAIN, VOLUME: 138, ISSUE: 8
AUTHORS: Marie Coutelier; Cyril Goizet; Alexandra Durr; Florence Habarou; Sara Morais; Alexandre Dionne Laporte; Feifei F Tao; Juliette Konop; Marion Stoll; Perrine Charles; Maxime Jacoupy; Raphael Matusiak; Isabel Alonso; Chantal Tallaksen; Mathilde Mairey; Marina Kennerson; Marion Gaussen; Rebecca Schule; Maxime Janin; Fanny Morice Picard; ...More
PUBLISHED: 2015, SOURCE: BRAIN, VOLUME: 138, ISSUE: 8
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TITLE: Loss of Association of REEP2 with Membranes Leads to Hereditary Spastic Paraplegia
AUTHORS: Typhaine Esteves; Alexandra Durr; Emeline Mundwiller; Jose L Loureiro; Maxime Boutry; Michael A Gonzalez; Julie Gauthier; Khalid H El Hachimi; Christel Depienne; Marie Paule Muriel; Rafael Acosta A Lebrigio; Marion Gaussen; Anne Noreau; Fiorella Speziani; Alexandre Dionne Laporte; Jean Francois Deleuze; Patrick Dion; Paula Coutinho; Guy A Rouleau; Stephan Zuchner; ...More
PUBLISHED: 2014, SOURCE: AMERICAN JOURNAL OF HUMAN GENETICS, VOLUME: 94, ISSUE: 2
AUTHORS: Typhaine Esteves; Alexandra Durr; Emeline Mundwiller; Jose L Loureiro; Maxime Boutry; Michael A Gonzalez; Julie Gauthier; Khalid H El Hachimi; Christel Depienne; Marie Paule Muriel; Rafael Acosta A Lebrigio; Marion Gaussen; Anne Noreau; Fiorella Speziani; Alexandre Dionne Laporte; Jean Francois Deleuze; Patrick Dion; Paula Coutinho; Guy A Rouleau; Stephan Zuchner; ...More
PUBLISHED: 2014, SOURCE: AMERICAN JOURNAL OF HUMAN GENETICS, VOLUME: 94, ISSUE: 2
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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; ...More
PUBLISHED: 2013, SOURCE: AMERICAN JOURNAL OF HUMAN GENETICS, VOLUME: 92, ISSUE: 2
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; ...More
PUBLISHED: 2013, SOURCE: AMERICAN JOURNAL OF HUMAN GENETICS, VOLUME: 92, ISSUE: 2
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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; ...More
PUBLISHED: 2013, SOURCE: HUMAN MOLECULAR GENETICS, VOLUME: 22, ISSUE: 20
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; ...More
PUBLISHED: 2013, SOURCE: HUMAN MOLECULAR GENETICS, VOLUME: 22, ISSUE: 20
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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 ; ...More
PUBLISHED: 2013, SOURCE: AMERICAN JOURNAL OF HUMAN GENETICS, VOLUME: 93, ISSUE: 1
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 ; ...More
PUBLISHED: 2013, SOURCE: AMERICAN JOURNAL OF HUMAN GENETICS, VOLUME: 93, ISSUE: 1
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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
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
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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
