Giovanni Stevanin

Loop profile ORCID

Publication Activity (10 Years)

Years Active: 2018-2024
Publications (10 Years): 17

Top Venues

Molecular psychiatry

European journal of human genetics : EJHG

Neurogenetics

Brain : a journal of neurology

Assistance Publique - Hôpitaux de Paris

Université Pierre et Marie Curie (PHD)

This page only lists publications with an associated author ORCID identifier.

Affiliation History

Assistance Publique - Hôpitaux de Paris Mar 01 2015

France

Contractuel Interface chercheur :: DRCD

École Pratique des Hautes Études Nov 01 2011

France

Directeur d'Etudes Cumulant (Professor) :: Sciences de la Vie et de la Terre

Ecole Supérieure des Techniques de Biologie Appliquée Jun 01 2010

France

Responsable pédagogique :: Bioindustriel

INSERM Sep 01 2000

France

Directeur de Recherches

Education History

Université Pierre et Marie Curie Sep 01 1994 - Sep 22 1998

France

PHD

Université Pierre et Marie Curie Sep 01 1993 - Aug 31 1994

France

MSC

École Pratique des Hautes Études Sep 01 1991 - Aug 31 1993

France

MSC :: SVT

Ecole Supérieure des Techniques de Biologie Appliquée Sep 01 1990 - Aug 31 1991

France

BSC :: Bioindustriel

Publications

Dévina C Ung, Nicolas Pietrancosta, Elena Baz Badillo, Brigitt Raux, Daniel Tapken, Andjela Zlatanovic, Adrien Doridant, Ben Pode-Shakked, Annick Raas-Rothschild, Orly Elpeleg, Bassam Abu-Libdeh, Nasrin Hamed, Marie-Amélie Papon, Sylviane Marouillat, Rose-Anne Thépault, Giovanni Stevanin, Jonathan Elegheert, Mathieu Letellier, Michael Hollmann, Bertrand Lambolez, Ludovic Tricoire, Annick Toutain, Régine Hepp, Frédéric Laumonnier
GRID1/GluD1 homozygous variants linked to intellectual disability and spastic paraplegia impair mGlu1/5 receptor signaling and excitatory synapses. Molecular psychiatry 29 (4) (2024)
Dévina C Ung, Nicolas Pietrancosta, Elena Baz Badillo, Brigitt Raux, Daniel Tapken, Andjela Zlatanovic, Adrien Doridant, Ben Pode-Shakked, Annick Raas-Rothschild, Orly Elpeleg, Bassam Abu-Libdeh, Nasrin Hamed, Marie-Amélie Papon, Sylviane Marouillat, Rose-Anne Thépault, Giovanni Stevanin, Jonathan Elegheert, Mathieu Letellier, Michael Hollmann, Bertrand Lambolez, Ludovic Tricoire, Annick Toutain, Régine Hepp, Frédéric Laumonnier
GRID1/GluD1 homozygous variants linked to intellectual disability and spastic paraplegia impair mGlu1/5 receptor signaling and excitatory synapses. Molecular psychiatry (2024)
Dévina C Ung, Nicolas Pietrancosta, Elena Baz Badillo, Brigitt Raux, Daniel Tapken, Andjela Zlatanovic, Adrien Doridant, Ben Pode-Shakked, Annick Raas-Rothschild, Orly Elpeleg, Bassam Abu-Libdeh, Nasrin Hamed, Marie-Amélie Papon, Sylviane Marouillat, Rose-Anne Thépault, Giovanni Stevanin, Jonathan Elegheert, Mathieu Letellier, Michael Hollmann, Bertrand Lambolez, Ludovic Tricoire, Annick Toutain, Régine Hepp, Frédéric Laumonnier
GRID1/GluD1 homozygous variants linked to intellectual disability and spastic paraplegia impair mGlu1/5 receptor signaling and excitatory synapses. Molecular psychiatry (2024)
Dévina C Ung, Nicolas Pietrancosta, Elena Baz Badillo, Brigitt Raux, Daniel Tapken, Andjela Zlatanovic, Adrien Doridant, Ben Pode-Shakked, Annick Raas-Rothschild, Orly Elpeleg, Bassam Abu-Libdeh, Nasrin Hamed, Marie-Amélie Papon, Sylviane Marouillat, Rose-Anne Thépault, Giovanni Stevanin, Jonathan Elegheert, Mathieu Letellier, Michael Hollmann, Bertrand Lambolez, Ludovic Tricoire, Annick Toutain, Régine Hepp, Frédéric Laumonnier
GRID1/GluD1 homozygous variants linked to intellectual disability and spastic paraplegia impair mGlu1/5 receptor signaling and excitatory synapses. Molecular psychiatry (2024)
Dévina C Ung, Nicolas Pietrancosta, Elena Baz Badillo, Brigitt Raux, Daniel Tapken, Andjela Zlatanovic, Adrien Doridant, Ben Pode-Shakked, Annick Raas-Rothschild, Orly Elpeleg, Bassam Abu-Libdeh, Nasrin Hamed, Marie-Amélie Papon, Sylviane Marouillat, Rose-Anne Thépault, Giovanni Stevanin, Jonathan Elegheert, Mathieu Letellier, Michael Hollmann, Bertrand Lambolez, Ludovic Tricoire, Annick Toutain, Régine Hepp, Frédéric Laumonnier
GRID1/GluD1 homozygous variants linked to intellectual disability and spastic paraplegia impair mGlu1/5 receptor signaling and excitatory synapses. Molecular psychiatry 29 (4) (2024)
Dévina C Ung, Nicolas Pietrancosta, Elena Baz Badillo, Brigitt Raux, Daniel Tapken, Andjela Zlatanovic, Adrien Doridant, Ben Pode-Shakked, Annick Raas-Rothschild, Orly Elpeleg, Bassam Abu-Libdeh, Nasrin Hamed, Marie-Amélie Papon, Sylviane Marouillat, Rose-Anne Thépault, Giovanni Stevanin, Jonathan Elegheert, Mathieu Letellier, Michael Hollmann, Bertrand Lambolez, Ludovic Tricoire, Annick Toutain, Régine Hepp, Frédéric Laumonnier
GRID1/GluD1 homozygous variants linked to intellectual disability and spastic paraplegia impair mGlu1/5 receptor signaling and excitatory synapses. Molecular psychiatry 29 (4) (2024)
Dévina C Ung, Nicolas Pietrancosta, Elena Baz Badillo, Brigitt Raux, Daniel Tapken, Andjela Zlatanovic, Adrien Doridant, Ben Pode-Shakked, Annick Raas-Rothschild, Orly Elpeleg, Bassam Abu-Libdeh, Nasrin Hamed, Marie-Amélie Papon, Sylviane Marouillat, Rose-Anne Thépault, Giovanni Stevanin, Jonathan Elegheert, Mathieu Letellier, Michael Hollmann, Bertrand Lambolez, Ludovic Tricoire, Annick Toutain, Régine Hepp, Frédéric Laumonnier
GRID1/GluD1 homozygous variants linked to intellectual disability and spastic paraplegia impair mGlu1/5 receptor signaling and excitatory synapses. Molecular psychiatry 29 (4) (2024)
Sandra Martins, Ashraf Yahia, Inês P D Costa, Hassab E Siddig, Rayan Abubaker, Mahmoud E Koko, Marc Corral-Juan, Antoni Matilla-Dueñas, Alexis Brice, Alexandra Dürr, Eric Leguern, Laura P W Ranum, Antonio Amorim, Liena E O Elsayed, Giovanni Stevanin, Leonor Correia Guedes
Machado-Joseph disease in a Sudanese family links East Africa to Portuguese families and allows reestimation of ancestral age of the Machado lineage. Human genetics (2023)
Ashraf Yahia, Ahlam A A Hamed, Inaam N Mohamed, Maha A Elseed, Mustafa A Salih, Sarah M El-Sadig, Hassab Elrasoul Siddig, Ali Elsir Musa Nasreldien, Mohamed Ahmed Abdullah, Maha Elzubair, Farouk Yassen Omer, Aisha Motwakil Bakhiet, Rayan Abubaker, Fatima Abozar, Rawaa Adil, Sara Emad, Mhammed Alhassan Musallam, Isra Z M Eltazi, Zulfa Omer, Hiba Malik, Mayada O E Mohamed, Ali A Elhassan, Eman O E Mohamed, Ahmed K M A Ahmed, Elhami A A Ahmed, Esraa Eltaraifee, Bidour K Hussein, Amal S I Abd Allah, Lina Salah, Mohammed Nimir, Omnia M Tag Elseed, Tasneem E A Elhassan, Abubakr Elbashier, Esraa S A Alfadul, Moneeb Fadul, Khalil F Ali, Shaimaa Omer M A Taha, Elfatih E Bushara, Mutaz Amin, Mahmoud E Koko, Muntaser E Ibrahim, Ammar E Ahmed, Liena E O Elsayed, Giovanni Stevanin
Clinical phenotyping and genetic diagnosis of a large cohort of Sudanese families with hereditary spinocerebellar degenerations. European journal of human genetics : EJHG (2023)
Jean-Loup Méreaux, Guillaume Banneau, Mélanie Papin, Giulia Coarelli, Rémi Valter, Laure Raymond, Bophara Kol, Olivier Ariste, Livia Parodi, Laurène Tissier, Mathilde Mairey, Samia Ait Said, Celia Gautier, Marine Guillaud-Bataille, null null, Sylvie Forlani, Pierre de la Grange, Alexis Brice, Giovanni Vazza, Alexandra Durr, Eric Leguern, Giovanni Stevanin
Clinical and genetic spectra of 1550 index patients with hereditary spastic paraplegia. Brain : a journal of neurology 145 (3) (2022)
Mathieu Barbier, Melanie Bahlo, Alessandra Pennisi, Maxime Jacoupy, Rick M Tankard, Claire Ewenczyk, Kayli C Davies, Patricia Lino-Coulon, Claire Colace, Haloom Rafehi, Nicolas Auger, Brendan Robert E Ansell, Ivo van der Stelt, Katherine B Howell, Marie Coutelier, David J Amor, Emeline Mundwiller, Lena Guillot-Noël, Elsdon Storey, R J McKinlay Gardner, Mathew J Wallis, Alfredo Brusco, Olga Corti, Agnes Rotig, Richard J Leventer, Alexis Brice, Martin B Delatycki, Giovanni Stevanin, Paul J Lockhart, Alexandra Dürr
Heterozygous PNPT1 Variants Cause Spinocerebellar Ataxia Type 25. Annals of neurology 92 (1) (2022)
Claire Pujol, Anne Legrand, Livia Parodi, Priscilla Thomas, Fanny Mochel, Dario Saracino, Giulia Coarelli, Marijana Croon, Milica Popovic, Manon Valet, Nicolas Villain, Shahira Elshafie, Mahmoud Y Issa, Stéphane Zuily, Mathilde Renaud, Cécilia Marelli-Tosi, Marine Legendre, Aurélien Trimouille, Isabelle Kemlin, Sophie Mathieu, Joseph G Gleeson, Foudil Lamari, Daniele Galatolo, Rana Alkouri, Chantal Tse, Diana Rodriguez, Claire Ewenczyk, Florence Fellmann, Thierry Kuntzer, Emilie Blond, Khalid Hamid El Hachimi, Frédéric Darios, Alexandre Seyer, Anastasia D Gazi, Patrick Giavalisco, Silvina Perin, Jean-Luc Boucher, Laurent Le Corre, Filippo Maria Santorelli, Cyril Goizet, Maha Saad Zaki, Serge Picaud, Arnaud Mourier, Sophie Marie Steculorum, Mignot Cyril, Alexandra Dürr, Aleksandra Trifunovic, Giovanni Stevanin
Implication of folate deficiency in CYP2U1 loss of function. The Journal of experimental medicine 218 (11) (2021)
Liriopé Toupenet Marchesi, Marion Leblanc, Giovanni Stevanin
Current Knowledge of Endolysosomal and Autophagy Defects in Hereditary Spastic Paraplegia. Cells 10 (7) (2021)
Marianthi Breza, Jennifer Hirst, Viorica Chelban, Guillaume Banneau, Laurène Tissier, Bophara Kol, Thomas Bourinaris, Samia A Said, Yann Péréon, Anna Heinzmann, Rabab Debs, Raul Juntas-Morales, Victoria G Martinez, Jean P Camdessanche, Clarisse Scherer-Gagou, Jean-Médard Zola, Alkyoni Athanasiou-Fragkouli, Stephanie Efthymiou, George Vavougios, Georgios Velonakis, Maria Stamelou, John Tzartos, Constantin Potagas, Thomas Zambelis, Caterina Mariotti, Craig Blackstone, Jana Vandrovcova, Theodoros Mavridis, Chrisoula Kartanou, Leonidas Stefanis, Nicholas Wood, Georgia Karadima, Eric LeGuern, Georgios Koutsis, Henry Houlden, Giovanni Stevanin
Expanding the Spectrum of AP5Z1-Related Hereditary Spastic Paraplegia (HSP-SPG48): A Multicenter Study on a Rare Disease. Movement disorders : official journal of the Movement Disorder Society 36 (4) (2021)
Chloé Angélini, Cyril Goizet, Samia Ait Said, William Camu, Christel Depienne, Bénédicte Heron, Bophara Kol, Marine Guillaud-Bataille, Perrine Pennamen, Caroline Rooryck, Clarisse Scherer-Gagou, Laurène Tissier, Giovanni Stevanin, Eric Leguern, Guillaume Banneau
Evidence of mosaicism in SPAST variant carriers in four French families. European journal of human genetics : EJHG 29 (7) (2021)
Jean-Loup Méreaux, Cristina Firanescu, Giulia Coarelli, Malin Kvarnung, Rita Rodrigues, Elena Pegoraro, Meriem Tazir, Frédéric Taithe, Rémi Valter, Vincent Huin, Kristina Lidström, Guillaume Banneau, Sara Morais, Livia Parodi, Marie Coutelier, Mélanie Papin, Per Svenningsson, Jean-Philippe Azulay, Isabel Alonso, Daniel Nilsson, Alexis Brice, Eric Le Guern, Rayomand Press, Giovanni Vazza, José Leal Loureiro, Cyril Goizet, Alexandra Durr, Martin Paucar, Giovanni Stevanin
Increasing involvement of CAPN1 variants in spastic ataxias and phenotype-genotype correlations. Neurogenetics 22 (1) (2021)
Amandine Duchesne, Anne Vaiman, Magali Frah, Sandrine Floriot, Sabrina Legoueix-Rodriguez, Anne Desmazières, Sébastien Fritz, Christian Beauvallet, Olivier Albaric, Eric Venot, Maud Bertaud, Romain Saintilan, Raphaël Guatteo, Diane Esquerré, Julien Branchu, Anaïs Fleming, Alexis Brice, Frédéric Darios, Jean-Luc Vilotte, Giovanni Stevanin, Didier Boichard, Khalid Hamid El Hachimi
Progressive ataxia of Charolais cattle highlights a role of KIF1C in sustainable myelination. PLoS genetics 14 (8) (2018)

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Publication Activity (10 Years)

Top Topics

Top Venues

Giovanni Stevanin