Translational research in neurogenetic diseases (NRGEN)

Selected publications

• GRID1/GluD1 homozygous variants linked to intellectual disability and spastic paraplegia impair mGlu1/5 receptor signaling and excitatory synapses
  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.
  Mol Psychiatry. 2024-02-28.
  DOI: 10.1038/s41380-024-02469-w
• Clinical and genetic keys to cerebellar ataxia due to FGF14 GAA expansions
  Jean-Loup Méreaux, Claire-Sophie Davoine, David Pellerin, Giulia Coarelli, Marie Coutelier, Claire Ewenczyk, Marie-Lorraine Monin, Mathieu Anheim, Isabelle Le Ber, Stéphane Thobois, Florent Gobert, Léna Guillot-Noël, Sylvie Forlani, Ludmila Jornea, Anna Heinzmann, Aude Sangare, Bertrand Gaymard, Lucie Guyant-Maréchal, Perrine Charles, Cecilia Marelli, Jérôme Honnorat, Bertrand Degos, François Tison, Sophie Sangla, Marion Simonetta-Moreau, François Salachas, Maya Tchikviladzé, Giovanni Castelnovo, Fanny Mochel, Stephan Klebe, Anna Castrioto, Silvia Fenu, Aurélie Méneret, Frédéric Bourdain, Marion Wandzel, Virginie Roth, Céline Bonnet, Florence Riant, Giovanni Stevanin, Sandrine Noël, Anne-Laure Fauret-Amsellem, Melanie Bahlo, Paul J. Lockhart, Bernard Brais, Mathilde Renaud, Alexis Brice, Alexandra Durr.
  eBioMedicine. 2024-01-01. 99 : 104931.
  DOI: 10.1016/j.ebiom.2023.104931
• Machado-Joseph disease in a Sudanese family links East Africa to Portuguese families and allows reestimation of ancestral age of the Machado lineage
  Sandra Martins, Ashraf Yahia, Inês P. D. Costa, Hassab E. Siddig, Rayan Abubaker, Mahmoud Koko, Marc Corral-Juan, Antoni Matilla-Dueñas, Alexis Brice, Alexandra Durr, Eric Leguern, Laura P. W. Ranum, António Amorim, Liena E. O. Elsayed, Giovanni Stevanin, Jorge Sequeiros.
  Hum. Genet.. 2023-11-14. 142 (12) : 1747-1754.
  DOI: 10.1007/s00439-023-02611-8
• Autosomal Dominant MPAN: Mosaicism Expands the Clinical Spectrum to Atypical Late-Onset Phenotypes
  Chloé Angelini, Christelle Marie Durand, Patricia Fergelot, Julie Deforges, Anne Vital, Patrice Menegon, Elizabeth Sarrazin, Rémi Bellance, Stéphane Mathis, Victoria Gonzalez, Mathilde Renaud, Solène Frismand, Emmanuelle Schmitt, Marie Rouanet, Lydie Burglen, Brigitte Chabrol, Béatrice Desnous, Benoît Arveiler, Giovanni Stevanin, Isabelle Coupry, Cyril Goizet.
  Movement Disorders. 2023-08-21. 38 (11) : 2103-2115.
  DOI: 10.1002/mds.29576
• White matter abnormalities in 15 subjects with SPG76
  Abdulrahman Alkhalifa, Shihan Chen, Zehra Isik Hasiloglu, Massimiliano Filosto, Elisa Cali, Henry Houlden, Paulo Sgobbi de Souza, Afagh Alavi, Cyril Goizet, Giovanni Stevanin, Frederic Taithe, Francesco Nicita, Gessica Vasco, Stefano Tozza, Sirio Cocozza, Nicola Carboni, Andrea Figus, Jianjun Wu, A. Nazli Basak, Bernard Brais, Guy Rouleau, Roberta La Piana.
  J Neurol. 2023-08-14. 270 (12) : 5784-5792.
  DOI: 10.1007/s00415-023-11918-5
• Implication of folate deficiency in CYP2U1 loss of function.
  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 Issa, Stephane 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 H. El Hachimi, Frédéric Darios, Alexandre Seyer, Anastasia D. Gazi, Patrick Giavalisco, Silvina Perin, Jean-Luc Boucher, Laurent Le Corre, Filippo M. Santorelli, Cyril Goizet, Maha S. Zaki, Serge Picaud, Arnaud Mourier, Sophie Marie Steculorum, Cyril Mignot, Alexandra Durr, Aleksandra Trifunovic, Giovanni Stevanin.
  Journal of Experimental Medicine. 2021-09-21. 218 (11)
  DOI: 10.1084/jem.20210846
• CYP2U1 activity is altered by missense mutations in hereditary spastic paraplegia 56.
  Christelle M. Durand, Laura Dhers, Christelle Tesson, Alessandra Tessa, Laetitia Fouillen, Stéphanie Jacqueré, Laure Raymond, Isabelle Coupry, Giovanni Benard, Frédéric Darios, Khalid H. El- Hachimi, Guja Astrea, François Rivier, Guillaume Banneau, Claire Pujol, Didier Lacombe, Alexandra Durr, Patrick J. Babin, Filippo M. Santorelli, Nicolas Pietrancosta, Jean-Luc Boucher, Daniel Mansuy, Giovanni Stevanin, Cyril Goizet.
  Human Mutation. 2017-11-11. 39 (1) : 140-151.
  DOI: 10.1002/humu.23359
• Alteration of ornithine metabolism leads to dominant and recessive hereditary spastic paraplegia.
  Marie Coutelier, Cyril Goizet, Alexandra Durr, Florence Habarou, Sara Morais, Alexandre Dionne-Laporte, Feifei Tao, Juliette Konop, Marion Stoll, Perrine Charles, Maxime Jacoupy, Raphaël Matusiak, Isabel Alonso, Chantal Tallaksen, Mathilde Mairey, Marina Kennerson, Marion Gaussen, Rebecca Schule, Maxime Janin, Fanny Morice-Picard, Christelle M. Durand, Christel Depienne, Patrick Calvas, Paula Coutinho, Jean-Marie Saudubray, Guy Rouleau, Alexis Brice, Garth Nicholson, Frédéric Darios, José L. Loureiro, Stephan Zuchner, Chris Ottolenghi, Fanny Mochel, Giovanni Stevanin.
  Brain. 2015-05-29. 138 (8) : 2191-2205.
  DOI: 10.1093/brain/awv143
• Alteration of fatty-acid-metabolizing enzymes affects mitochondrial form and function in hereditary spastic paraplegia.
  Christelle Tesson, Magdalena Nawara, Mustafa A.M. Salih, Rodrigue Rossignol, Maha S. Zaki, Mohammed Al Balwi, Rebecca Schule, Cyril Mignot, Emilie Obre, Ahmed Bouhouche, Filippo M. Santorelli, Christelle M. Durand, Andrés Caballero Oteyza, Khalid H. El-Hachimi, Abdulmajeed Al Drees, Naima Bouslam, Foudil Lamari, Salah A. Elmalik, Mohammad M. Kabiraj, Mohammed Z. Seidahmed, Typhaine Esteves, Marion Gaussen, Marie-Lorraine Monin, Gabor Gyapay, Doris Lechner, Michael Gonzalez, Christel Depienne, Fanny Mochel, Julie Lavie, Ludger Schols, Didier Lacombe, Mohamed Yahyaoui, Ibrahim Al Abdulkareem, Stephan Zuchner, Atsushi Yamashita, Ali Benomar, Cyril Goizet, Alexandra Durr, Joseph G. Gleeson, Frederic Darios, Alexis Brice, Giovanni Stevanin.
  The American Journal of Human Genetics. 2012-12-01. 91 (6) : 1051-1064.
  DOI: 10.1016/j.ajhg.2012.11.001
• REEP1 mutations in SPG31: frequency, mutational spectrum, and potential association with mitochondrial morpho-functional dysfunction.
  Cyril Goizet, Christel Depienne, Giovanni Benard, Amir Boukhris, Emeline Mundwiller, Guilhem Solé, Isabelle Coupry, Julie Pilliod, Marie-Laure Martin-Négrier, Estelle Fedirko, Sylvie Forlani, Cécile Cazeneuve, Didier Hannequin, Perrine Charles, Imed Feki, Jean-François Pinel, Anne-Marie Ouvrard-Hernandez, Stanislas Lyonnet, Elisabeth Ollagnon-Roman, Jacqueline Yaouanq, Annick Toutain, Christelle Dussert, Bertrand Fontaine, Eric Leguern, Didier Lacombe, Alexandra Durr, Rodrigue Rossignol, Alexis Brice, Giovanni Stevanin.
  Hum. Mutat.. 2011-09-09. 32 (10) : 1118-1127.
  DOI: 10.1002/humu.21542
• SPG15 is the second most common cause of hereditary spastic paraplegia with thin corpus callosum
  C. Goizet, A. Boukhris, D. Maltete, L. Guyant-Marechal, J. Truchetto, E. Mundwiller, S. Hanein, P. Jonveaux, F. Roelens, J. Loureiro, E. Godet, S. Forlani, J. Melki, M. Auer-Grumbach, J. C. Fernandez, P. Martin-Hardy, I. Sibon, G. Sole, I. Orignac, C. Mhiri, P. Coutinho, A. Durr, A. Brice, G. Stevanin.
  Neurology. 2009-10-05. 73 (14) : 1111-1119.
  DOI: 10.1212/WNL.0b013e3181bacf59
• CYP7B1 mutations in pure and complex forms of hereditary spastic paraplegia type 5.
  C. Goizet, A. Boukhris, A. Durr, C. Beetz, J. Truchetto, C. Tesson, M. Tsaousidou, S. Forlani, L. Guyant-Marechal, B. Fontaine, J. Guimaraes, B. Isidor, O. Chazouilleres, D. Wendum, D. Grid, F. Chevy, P. F. Chinnery, P. Coutinho, J.-P. Azulay, I. Feki, F. Mochel, C. Wolf, C. Mhiri, A. Crosby, A. Brice, G. Stevanin.
  Brain. 2009-05-12. 132 (6) : 1589-1600.
  DOI: 10.1093/brain/awp073
• Identification of the SPG15 gene, encoding spastizin, as a frequent cause of complicated autosomal-recessive spastic paraplegia, including Kjellin syndrome.
  Sylvain Hanein, Elodie Martin, Amir Boukhris, Paula Byrne, Cyril Goizet, Abdelmadjid Hamri, Ali Benomar, Alexander Lossos, Paola Denora, José Fernandez, Nizar Elleuch, Sylvie Forlani, Alexandra Durr, Imed Feki, Michael Hutchinson, Filippo M. Santorelli, Chokri Mhiri, Alexis Brice, Giovanni Stevanin.
  The American Journal of Human Genetics. 2008-04-01. 82 (4) : 992-1002.
  DOI: 10.1016/j.ajhg.2008.03.004
• Mutations in SPG11, encoding spatacsin, are a major cause of spastic paraplegia with thin corpus callosum.
  Giovanni Stevanin, Filippo M Santorelli, Hamid Azzedine, Paula Coutinho, Jacques Chomilier, Paola S Denora, Elodie Martin, Anne-Marie Ouvrard-Hernandez, Alessandra Tessa, Naïma Bouslam, Alexander Lossos, Perrine Charles, José L Loureiro, Nizar Elleuch, Christian Confavreux, Vítor T Cruz, Merle Ruberg, Eric Leguern, Djamel Grid, Meriem Tazir, Bertrand Fontaine, Alessandro Filla, Enrico Bertini, Alexandra Durr, Alexis Brice.
  Nat Genet. 2007-02-18. 39 (3) : 366-372.
  DOI: 10.1038/ng1980