Lipids in the Physiopathology of Hereditary Spastic Paraplegias

by Frédéric Darios, Frédéric Darios, Frédéric Darios, Frédéric Darios, Fanny Mochel, Fanny Mochel, Fanny Mochel, Fanny Mochel, Fanny Mochel, Giovanni Stevanin, Giovanni Stevanin, Giovanni Stevanin, Giovanni Stevanin, Giovanni Stevanin
Published 2020-02-01

The History of Gene Hunting in Hereditary Spinocerebellar Degeneration: Lessons From the Past and Future Perspectives

by Ashraf Yahia, Ashraf Yahia, Ashraf Yahia, Ashraf Yahia, Giovanni Stevanin, Giovanni Stevanin
Published 2021-03-01

Current Knowledge of Endolysosomal and Autophagy Defects in Hereditary Spastic Paraplegia

by Liriopé Toupenet Marchesi, Marion Leblanc, Giovanni Stevanin
Published 2021-07-01

Editorial: Hereditary Spastic Paraplegias: At the Crossroads of Molecular Pathways and Clinical Options

by Andrea Martinuzzi, Craig Blackstone, Cahir J. O'Kane, Giovanni Stevanin
Published 2021-06-01

Requirement for zebrafish ataxin-7 in differentiation of photoreceptors and cerebellar neurons.

by Constantin Yanicostas, Elisa Barbieri, Masahiko Hibi, Alexis Brice, Giovanni Stevanin, Nadia Soussi-Yanicostas
Published 2012-01-01

Novel Homozygous Missense Mutation in the ARG1 Gene in a Large Sudanese Family

by Liena E. O. Elsayed, Liena E. O. Elsayed, Liena E. O. Elsayed, Inaam N. Mohammed, Ahlam A. A. Hamed, Maha A. Elseed, Mustafa A. M. Salih, Ashraf Yahia, Ashraf Yahia, Ashraf Yahia, Ashraf Yahia, Rayan Abubaker, Mahmoud Koko, Amal S. I. Abd Allah, Mustafa I. Elbashir, Muntaser E. Ibrahim, Alexis Brice, Alexis Brice, Ammar E. Ahmed, Giovanni Stevanin, Giovanni Stevanin, Giovanni Stevanin
Published 2020-10-01

Spatacsin and spastizin act in the same pathway required for proper spinal motor neuron axon outgrowth in zebrafish

by Elodie Martin, Constantin Yanicostas, Agnès Rastetter, Seyedeh Maryam Alavi Naini, Alissia Maouedj, Edor Kabashi, Sophie Rivaud-Péchoux, Alexis Brice, Giovanni Stevanin, Nadia Soussi-Yanicostas
Published 2012-12-01

A heterozygous mutation in the CCDC88C gene likely causes early-onset pure hereditary spastic paraplegia: a case report

by Ashraf Yahia, Zhefan Stephen Chen, Ammar E. Ahmed, Sara Emad, Rawaa Adil, Rayan Abubaker, Shaimaa Omer M. A. Taha, Mustafa A. Salih, Liena Elsayed, Ho Yin Edwin Chan, Giovanni Stevanin
Published 2021-02-01

PML nuclear bodies and neuronal intranuclear inclusion in polyglutamine diseases

by Junko Takahashi, Hiroto Fujigasaki, Kiyoshi Iwabuchi, Amalia C Bruni, Toshiki Uchihara, Khalid H El Hachimi, Giovanni Stevanin, Alexandra Dürr, Anne-Sophie Lebre, Yvon Trottier, Hugues de Thé, Junichi Tanaka, Jean-Jacques Hauw, Charles Duyckaerts, Alexis Brice
Published 2003-08-01

Intra-familial phenotypic heterogeneity in a Sudanese family with DARS2-related leukoencephalopathy, brainstem and spinal cord involvement and lactate elevation: a case report

by Ashraf Yahia, Liena Elsayed, Arwa Babai, Mustafa A. Salih, Sarah Misbah El-Sadig, Mutaz Amin, Mahmoud Koko, Rayan Abubakr, Razaz Idris, Shaimaa Omer M.A. Taha, Salah A. Elmalik, Alexis Brice, Ammar Eltahir Ahmed, Giovanni Stevanin
Published 2018-10-01

Loss of spatacsin function alters lysosomal lipid clearance leading to upper and lower motor neuron degeneration

by Julien Branchu, Maxime Boutry, Laura Sourd, Marine Depp, Céline Leone, Alexandrine Corriger, Maeva Vallucci, Typhaine Esteves, Raphaël Matusiak, Magali Dumont, Marie-Paule Muriel, Filippo M. Santorelli, Alexis Brice, Khalid Hamid El Hachimi, Giovanni Stevanin, Frédéric Darios
Published 2017-06-01

Interrupted CAG expansions in ATXN2 gene expand the genetic spectrum of frontotemporal dementias

by Clémence Fournier, Vincent Anquetil, Agnès Camuzat, Sandrine Stirati-Buron, Véronique Sazdovitch, Laura Molina-Porcel, Sabrina Turbant, Daisy Rinaldi, Raquel Sánchez-Valle, Mathieu Barbier, Morwena Latouche, Neuro-CEB Neuropathology Network, Giovanni Stevanin, Danielle Seilhean, Alexis Brice, Charles Duyckaerts, Isabelle Le Ber
Published 2018-05-01

Case report of a novel homozygous splice site mutation in PLA2G6 gene causing infantile neuroaxonal dystrophy in a Sudanese family

by Liena E. O. Elsayed, Inaam N. Mohammed, Ahlam A. A. Hamed, Maha A. Elseed, Mustafa A. M. Salih, Ashraf Yahia, Rayan A. Siddig, Mutaz Amin, Mahmoud Koko, Mustafa I. Elbashir, Muntaser E. Ibrahim, Alexis Brice, Ammar E. Ahmed, Giovanni Stevanin
Published 2018-05-01

Inhibition of Lysosome Membrane Recycling Causes Accumulation of Gangliosides that Contribute to Neurodegeneration

by Maxime Boutry, Julien Branchu, Céline Lustremant, Claire Pujol, Julie Pernelle, Raphaël Matusiak, Alexandre Seyer, Marion Poirel, Emeline Chu-Van, Alexandre Pierga, Kostantin Dobrenis, Jean-Philippe Puech, Catherine Caillaud, Alexandra Durr, Alexis Brice, Benoit Colsch, Fanny Mochel, Khalid Hamid El Hachimi, Giovanni Stevanin, Frédéric Darios
Published 2018-06-01

A genome-scale DNA repair RNAi screen identifies SPG48 as a novel gene associated with hereditary spastic paraplegia.

by Mikołaj Słabicki, Mirko Theis, Dragomir B Krastev, Sergey Samsonov, Emeline Mundwiller, Magno Junqueira, Maciej Paszkowski-Rogacz, Joan Teyra, Anne-Kristin Heninger, Ina Poser, Fabienne Prieur, Jérémy Truchetto, Christian Confavreux, Cécilia Marelli, Alexandra Durr, Jean Philippe Camdessanche, Alexis Brice, Andrej Shevchenko, M Teresa Pisabarro, Giovanni Stevanin, Frank Buchholz
Published 2010-06-01

Defects in the CAPN1 Gene Result in Alterations in Cerebellar Development and Cerebellar Ataxia in Mice and Humans

by Yubin Wang, Joshua Hersheson, Dulce Lopez, Monia Hammer, Yan Liu, Ka-Hung Lee, Vanessa Pinto, Jeff Seinfeld, Sarah Wiethoff, Jiandong Sun, Rim Amouri, Faycal Hentati, Neema Baudry, Jennifer Tran, Andrew B. Singleton, Marie Coutelier, Alexis Brice, Giovanni Stevanin, Alexandra Durr, Xiaoning Bi, Henry Houlden, Michel Baudry
Published 2016-06-01

Correction: New Findings in a Global Approach to Dissect the Whole Phenotype of PLA2G6 Gene Mutations

by Mustafa A. Salih, Emeline Mundwiller, Arif O. Khan, Abdulmajeed AlDrees, Salah A. Elmalik, Hamdy H. Hassan, Mohammed Al-Owain, Hisham M. S. Alkhalidi, Istvan Katona, Mohammad M. Kabiraj, Roman Chrast, Amal Y. Kentab, Hamad Alzaidan, Richard J. Rodenburg, Thomas M. Bosley, Joachim Weis, Michel Koenig, Giovanni Stevanin, Hamid Azzedine
Published 2013-01-01

Correction: New Findings in a Global Approach to Dissect the Whole Phenotype of Gene Mutations.

by Mustafa A. Salih, Emeline Mundwiller, Arif O. Khan, Abdulmajeed AlDrees, Salah A. Elmalik, Hamdy H. Hassan, Mohammed Al-Owain, Hisham M. S. Alkhalidi, Istvan Katona, Mohammad M. Kabiraj, Roman Chrast, Amal Y. Kentab, Hamad Alzaidan, Richard J. Rodenburg, Thomas M. Bosley, Joachim Weis, Michel Koenig, Giovanni Stevanin, Hamid Azzedine
Published 2013-01-01

New findings in a global approach to dissect the whole phenotype of PLA2G6 gene mutations.

by Mustafa A Salih, Emeline Mundwiller, Arif O Khan, Abdulmajeed AlDrees, Salah A Elmalik, Hamdy H Hassan, Mohammed Al-Owain, Hisham M S Alkhalidi, Istvan Katona, Mohammad M Kabiraj, Roman Chrast, Amal Y Kentab, Hamad Alzaidan, Richard J Rodenburg, Thomas M Bosley, Joachim Weis, Michel Koenig, Giovanni Stevanin, Hamid Azzedine
Published 2013-01-01

Progressive ataxia of Charolais cattle highlights a role of KIF1C in sustainable myelination.

by 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
Published 2018-08-01