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Loss-of-Function Variants in CPT1C: No Support for a Causal Role in Hereditary Spastic Paraplegia Zhu, Rui; Liu, Lang; Estiar, Mehrdad A.; Asayesh, Farnaz; Ahmad, Jamil; Teferra, Meron; Yoon, Grace; Tarnopolsky, Mark; Boycott, Kym M.; Dupre, Nicolas; Dion, Patrick A.; Suchowersky, Oksana; Jordanova, Albena; Lee, Yi-Chung; Stevanin, Giovanni; Zuchner, Stephan; Rouleau, Guy A.; Gan-Or, Ziv Share Save
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Biallelic variants in ERLIN1: a series of 13 individuals with spastic paraparesis Cogan, Guillaume; Zaki, Maha S.; Issa, Mahmoud; Keren, Boris; Guillaud-Bataille, Marine; Renaldo, Florence; Isapof, Arnaud; Lallemant, Pauline; Stevanin, Giovanni; Guillot-Noel, Lena; Courtin, Thomas; Buratti, Julien; Freihuber, Cecile; Gleeson, Joseph G.; Howarth, Robyn; Durr, Alexandra; Agathe, Jean-Madeleine de Sainte; Mignot, Cyril Share Save
Decreasing ganglioside synthesis delays motor and cognitive symptom onset in Spg11 knockout mice Fortier, Manon; Cauhape, Margaux; Buono, Suzie; Becker, Julien; Menuet, Alexia; Branchu, Julien; Ricca, Ivana; Mero, Serena; Dorgham, Karim; El Hachimi, Khalid-Hamid; Dobrenis, Kostantin; Colsch, Benoit; Samaroo, Dominic; Devaux, Morgan; Durr, Alexandra; Stevanin, Giovanni; Santorelli, Filippo M.; Colombo, Sophie; Cowling, Belinda; Darios, Frederic Share Save
GRID1/GluD1 homozygous variants linked to intellectual disability and spastic paraplegia impair mGlu1/5 receptor signaling and excitatory synapses Ung, Devina C.; Pietrancosta, Nicolas; Badillo, Elena Baz; Raux, Brigitt; Tapken, Daniel; Zlatanovic, Andjela; Doridant, Adrien; Pode-Shakked, Ben; Raas-Rothschild, Annick; Elpeleg, Orly; Abu-Libdeh, Bassam; Hamed, Nasrin; Papon, Marie-Amelie; Marouillat, Sylviane; Thepault, Rose-Anne; Stevanin, Giovanni; Elegheert, Jonathan; Letellier, Mathieu; Hollmann, Michael; Lambolez, Bertrand; Tricoire, Ludovic; Toutain, Annick; Hepp, Regine; Laumonnier, Frederic Share Save
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Clinical and genetic keys to cerebellar ataxia due to FGF14 GAA expansions Mereaux, Jean-Loup; Davoine, Claire-Sophie; Pellerin, David; Coarelli, Giulia; Coutelier, Marie; Ewenczyk, Claire; Monin, Marie -Lorraine; Anheim, Mathieu; Le Ber, Isabelle; Thobois, Stephane; Gobert, Florent; Guillot-Noel, Lena; Forlani, Sylvie; Jornea, Ludmila; Heinzmann, Anna; Sangare, Aude; Gaymard, Bertrand; Guyant-Marechal, Lucie; Charles, Perrine; Marelli, Cecilia; Honnorat, Jerome; Degos, Bertrand; Tison, Francois; Sangla, Sophie; Simonetta-Moreau, Marion; Salachas, Francois; Tchikviladze, Maya; Castelnovo, Giovanni; Mochel, Fanny; Klebe, Stephan; Castrioto, Anna; Fenu, Silvia; Meneret, Aurelie; Bourdain, Frederic; Wandzel, Marion; Roth, Virginie; Bonnet, Celine; Riant, Florence; Stevanin, Giovanni; Noel, Sandrine; Fauret-Amsellem, Anne-Laure; Bahlo, Melanie; Lockhart, Paul J.; Brais, Bernard; Renaud, Mathilde; Brice, Alexis; Durra, Alexandra Share Save
IRF2BPL Causes Mild Intellectual Disability Followed by Late-Onset Ataxia Heide, Solveig; Davoine, Claire-Sophie; Cunha, Paulina; Scherer-Gagou, Clarisse; Keren, Boris; Stevanin, Giovanni; Charles, Perrine; Heron, Delphine; Brice, Alexis; Durr, Alexandra Share Save
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Machado-Joseph disease in a Sudanese family links East Africa to Portuguese families and allows reestimation of ancestral age of the Machado lineage 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 Share Save
Autosomal Dominant MPAN: Mosaicism Expands the Clinical Spectrum to Atypical Late-Onset Phenotypes Angelini, Chloe; Durand, Christelle Marie; Fergelot, Patricia; Deforges, Julie; Vital, Anne; Menegon, Patrice; Sarrazin, Elizabeth; Bellance, Remi; Mathis, Stephane; Gonzalez, Victoria; Renaud, Mathilde; Frismand, Solene; Schmitt, Emmanuelle; Rouanet, Marie; Burglen, Lydie; Chabrol, Brigitte; Desnous, Beatrice; Arveiler, Benoit; Stevanin, Giovanni; Coupry, Isabelle; Goizet, Cyril Share Save
Clinical phenotyping and genetic diagnosis of a large cohort of Sudanese families with hereditary spinocerebellar degenerations Yahia, Ashraf; Hamed, Ahlam A. A.; Mohamed, Inaam N.; Elseed, Maha A.; Salih, Mustafa A.; El-sadig, Sarah M.; Siddig, Hassab Elrasoul; Nasreldien, Ali Elsir Musa; Abdullah, Mohamed Ahmed; Elzubair, Maha; Omer, Farouk Yassen; Bakhiet, Aisha Motwakil; Abubaker, Rayan; Abozar, Fatima; Adil, Rawaa; Emad, Sara; Musallam, Mhammed Alhassan; Eltazi, Isra Z. M.; Omer, Zulfa; Malik, Hiba; Mohamed, Mayada O. E.; Elhassan, Ali A.; Mohamed, Eman O. E.; Ahmed, Ahmed K. M. A.; Ahmed, Elhami A. A.; Eltaraifee, Esraa; Hussein, Bidour K.; Abd Allah, Amal S. I.; Salah, Lina; Nimir, Mohamed; Tag Elseed, Omnia M.; Elhassan, Tasneem E. A.; Elbashier, Abubakr; Alfadul, Esraa S. A.; Fadul, Moneeb; Ali, Khalil F.; Taha, Shaimaa Omer M. A.; Bushara, Elfatih E.; Amin, Mutaz; Koko, Mahmoud; Ibrahim, Muntaser E.; Ahmed, Ammar E.; Elsayed, Liena E. O.; Stevanin, Giovanni Share Save
The mitochondrial seryl-tRNA synthetase SARS2 modifies onset in spastic paraplegia type 4 Parodi, Livia; Barbier, Mathieu; Jacoupy, Maxime; Pujol, Claire; Lejeune, Francois-Xavier; Lallemant-Dudek, Pauline; Esteves, Typhaine; Pennings, Maartje; Kamsteeg, Erik-Jan; Guillaud-Bataille, Marine; Banneau, Guillaume; Coarelli, Giulia; Oumoussa, Badreddine Mohand; Fraidakis, Matthew J.; Stevanin, Giovanni; Depienne, Christel; van de Warrenburg, Bart; Brice, Alexis; Durr, Alexandra Share Save
Heterozygous PNPT1 Variants Cause Spinocerebellar Ataxia Type 25 Barbier, Mathieu; Bahlo, Melanie; Pennisi, Alessandra; Jacoupy, Maxime; Tankard, Rick M.; Ewenczyk, Claire; Davies, Kayli C.; Lino-Coulon, Patricia; Colace, Claire; Rafehi, Haloom; Auger, Nicolas; Ansell, Brendan R. E.; van der Stelt, Ivo; Howell, Katherine B.; Coutelier, Marie; Amor, David J.; Mundwiller, Emeline; Guillot-Noel, Lena; Storey, Elsdon; Gardner, R. J. McKinlay; Wallis, Mathew J.; Brusco, Alfredo; Corti, Olga; Rotig, Agnes; Leventer, Richard J.; Brice, Alexis; Delatycki, Martin B.; Stevanin, Giovanni; Lockhart, Paul J.; Durr, Alexandra Share Save
De Novo and Dominantly Inherited SPTAN1 Mutations Cause Spastic Paraplegia and Cerebellar Ataxia Van de Vondel, Liedewei; De Winter, Jonathan; Beijer, Danique; Coarelli, Giulia; Wayand, Melanie; Palvadeau, Robin; Pauly, Martje G.; Klein, Katrin; Rautenberg, Maren; Guillot-Noel, Lena; Deconinck, Tine; Vural, Atay; Ertan, Sibel; Dogu, Okan; Uysal, Hilmi; Brankovic, Vesna; Herzog, Rebecca; Brice, Alexis; Durr, Alexandra; Klebe, Stephan; Stock, Friedrich; Bischoff, Almut Turid; Rattay, Tim W.; Sobrido, Maria-Jesus; De Michele, Giovanna; De Jonghe, Peter; Klopstock, Thomas; Lohmann, Katja; Zanni, Ginevra; Santorelli, Filippo M.; Timmerman, Vincent; Haack, Tobias B.; Zuchner, Stephan; Schuele, Rebecca; Stevanin, Giovanni; Synofzik, Matthis; Basak, A. Nazli; Baets, Jonathan Share Save
Clinical and genetic spectra of 1550 index patients with hereditary spastic paraplegia Mereaux, Jean-Loup; Banneau, Guillaume; Papin, Melanie; Coarelli, Giulia; Valter, Remi; Raymond, Laure; Kol, Bophara; Ariste, Olivier; Parodi, Livia; Tissier, Laurene; Mairey, Mathilde; Said, Samia Ait; Gautier, Celia; Guillaud-Bataille, Marine; Forlani, Sylvie; de la Grange, Pierre; Brice, Alexis; Vazza, Giovanni; Durr, Alexandra; Leguern, Eric; Stevanin, Giovanni Share Save
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