Category Archives: publication
GRID1/GluD1 homozygous variants linked to intellectual disability and spastic paraplegia impair mGlu1/5 receptor signaling and excitatory synapses by Ung et al, Mol Psy 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; Mol Psy 2024 Background Intellectual disability (ID) and spastic paraplegia (SPG) are clinically
GRID1/GluD1 homozygous variants linked to intellectual disability and spastic paraplegia impair mGlu1/5 receptor signaling and excitatory synapses by Ung et al, Mol Psy 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; Mol Psy 2024 Background Intellectual disability (ID) and spastic paraplegia (SPG) are clinically
Clinical and genetic spectra of 1550 index patients with hereditary spastic paraplegia, Brain 2022
Clinical and genetic spectra of 1550 index patients with hereditary spastic paraplegia by Méreaux & Banneau et al, Brain 2022 Abstract Hereditary spastic paraplegia refers to rare genetic neurodevelopmental and/or neurodegenerative disorders in which spasticity due to length-dependent damage to
Clinical and genetic spectra of 1550 index patients with hereditary spastic paraplegia, Brain 2022
Clinical and genetic spectra of 1550 index patients with hereditary spastic paraplegia by Méreaux & Banneau et al, Brain 2022 Abstract Hereditary spastic paraplegia refers to rare genetic neurodevelopmental and/or neurodegenerative disorders in which spasticity due to length-dependent damage to
Clinical, Genetic, and Pathological Aspects of Hereditary Spastic Paraplegias
Insights into Clinical, Genetic, and Pathological Aspects of Hereditary Spastic Paraplegias: A Comprehensive Overview By Liena E. O. Elsayed, Isra Zuhair Eltazi, Ammar E. Ahmed and Giovanni Stevanin Front. Mol. Biosci., 26 November 2021 | https://doi.org/10.3389/fmolb.2021.690899 Hereditary spastic paraplegias (HSP) are
Clinical, Genetic, and Pathological Aspects of Hereditary Spastic Paraplegias
Insights into Clinical, Genetic, and Pathological Aspects of Hereditary Spastic Paraplegias: A Comprehensive Overview By Liena E. O. Elsayed, Isra Zuhair Eltazi, Ammar E. Ahmed and Giovanni Stevanin Front. Mol. Biosci., 26 November 2021 | https://doi.org/10.3389/fmolb.2021.690899 Hereditary spastic paraplegias (HSP) are
News on SPG56: Implication of folate deficiency in CYP2U1 loss of function. J Exp Med 2021
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,
News on SPG56: Implication of folate deficiency in CYP2U1 loss of function. J Exp Med 2021
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,
Pathogenic variants in ABHD16A cause a novel psychomotor developmental disorder with spastic paraplegia by Yahia et al 2021
Pathogenic variants in ABHD16A cause a novel psychomotor developmental disorder with spastic paraplegia Yahia A, Elsayed LEO, Valter R, Hamed AAA, Mohammed IN, Elseed MA, Salih MA, Esteves T, Auger N, Abubaker R, Koko M, Abozar F, Malik H, Adil
Pathogenic variants in ABHD16A cause a novel psychomotor developmental disorder with spastic paraplegia by Yahia et al 2021
Pathogenic variants in ABHD16A cause a novel psychomotor developmental disorder with spastic paraplegia Yahia A, Elsayed LEO, Valter R, Hamed AAA, Mohammed IN, Elseed MA, Salih MA, Esteves T, Auger N, Abubaker R, Koko M, Abozar F, Malik H, Adil
Current Knowledge of Endolysosomal and Autophagy Defects in Hereditary Spastic Paraplegia, Cells 2021
Toupenet Marchesi, L.; Leblanc, M.; Stevanin, G. Current Knowledge of Endolysosomal and Autophagy Defects in Hereditary Spastic Paraplegia. Cells 2021, 10, 1678. https://doi.org/10.3390/cells10071678 Hereditary spastic paraplegia (HSP) refers to a group of neurological disorders involving the degeneration of motor neurons. Due to their
Current Knowledge of Endolysosomal and Autophagy Defects in Hereditary Spastic Paraplegia, Cells 2021
Toupenet Marchesi, L.; Leblanc, M.; Stevanin, G. Current Knowledge of Endolysosomal and Autophagy Defects in Hereditary Spastic Paraplegia. Cells 2021, 10, 1678. https://doi.org/10.3390/cells10071678 Hereditary spastic paraplegia (HSP) refers to a group of neurological disorders involving the degeneration of motor neurons. Due to their
Variant in PRUNE1 causes a neurodevelopmental syndrome with prominent dystonia by Koko, Yahia and Elsayed et al, Ann Hum Genet 2021
Koko M*, Yahia A*, Elsayed L*, Hamed AA, Mohammed IN, Elseed MA, Hamad MHA, Babai AM, Siddig RA, Abd Allah ASI, Mohamed M, El-Amin M, Esteves T, Altmuller J, Reza Toliat M,Thiele H, Nurnberg P, Salih MA, Ahmed AE, Lerche
Variant in PRUNE1 causes a neurodevelopmental syndrome with prominent dystonia by Koko, Yahia and Elsayed et al, Ann Hum Genet 2021
Koko M*, Yahia A*, Elsayed L*, Hamed AA, Mohammed IN, Elseed MA, Hamad MHA, Babai AM, Siddig RA, Abd Allah ASI, Mohamed M, El-Amin M, Esteves T, Altmuller J, Reza Toliat M,Thiele H, Nurnberg P, Salih MA, Ahmed AE, Lerche
Mosaicism in SPAST variant carriers
Evidence of mosaicism in SPAST variant carriers in four French families. Angelini C, Goizet C, Said SA, Camu W, Depienne C, Heron B, Kol B, Guillaud-Bataille M, Pennamen P, Rooryck C, Scherer-Gagou C, Tissier L, Stevanin G, Leguern E, Banneau G.
Mosaicism in SPAST variant carriers
Evidence of mosaicism in SPAST variant carriers in four French families. Angelini C, Goizet C, Said SA, Camu W, Depienne C, Heron B, Kol B, Guillaud-Bataille M, Pennamen P, Rooryck C, Scherer-Gagou C, Tissier L, Stevanin G, Leguern E, Banneau G.
Soutenance de Thèse d’Ashraf Yahia sur les dégénérescences spinocérébelleuses: 29 avril 2021
Bravo au Docteur Ashraf Yahia qui a brillement soutenu sa thèse de l’université Sorbonne et de l’université de Khartoum le 29 avril 2021 à l’Institut du Cerveau, intitulée : Identifying candidate genes predisposing to hereditaryspinocerebellar degeneration in a cohort of
Soutenance de Thèse d’Ashraf Yahia sur les dégénérescences spinocérébelleuses: 29 avril 2021
Bravo au Docteur Ashraf Yahia qui a brillement soutenu sa thèse de l’université Sorbonne et de l’université de Khartoum le 29 avril 2021 à l’Institut du Cerveau, intitulée : Identifying candidate genes predisposing to hereditaryspinocerebellar degeneration in a cohort of
The EPHE Neurogenetics Team 