Zobrazeno 1 - 10
of 11
pro vyhledávání: '"Mehdi Benkirane"'
Autor:
Heba Morsy, Mehdi Benkirane, Elisa Cali, Clarissa Rocca, Kristina Zhelcheska, Valentina Cipriani, Evangelia Galanaki, Reza Maroofian, Stephanie Efthymiou, David Murphy, Mary O’Driscoll, Mohnish Suri, Siddharth Banka, Jill Clayton-Smith, Thomas Wright, Melody Redman, Jennifer A. Bassetti, Mathilde Nizon, Benjamin Cogne, Rami Abu Jamra, Tobias Bartolomaeus, Marion Heruth, Ilona Krey, Janina Gburek-Augustat, Dagmar Wieczorek, Felix Gattermann, Meriel Mcentagart, Alice Goldenberg, Lucie Guyant-Marechal, Hector Garcia-Moreno, Paola Giunti, Brigitte Chabrol, Severine Bacrot, Roger Buissonnière, Virginie Magry, Vykuntaraju K. Gowda, Varunvenkat M. Srinivasan, Béla Melegh, András Szabó, Katalin Sümegi, Mireille Cossée, Monica Ziff, Russell Butterfield, David Hunt, Georgina Bird-Lieberman, Michael Hanna, Michel Koenig, Michael Stankewich, Jana Vandrovcova, Henry Houlden, J.C. Ambrose, P. Arumugam, E.L. Baple, M. Bleda, F. Boardman-Pretty, J.M. Boissiere, C.R. Boustred, H. Brittain, M.J. Caulfield, G.C. Chan, C.E.H. Craig, L.C. Daugherty, A. de Burca, A. Devereau, G. Elgar, R.E. Foulger, T. Fowler, P. Furió-Tarí, J.M. Hackett, D. Halai, A. Hamblin, S. Henderson, J.E. Holman, T.J.P. Hubbard, K. Ibáñez, R. Jackson, L.J. Jones, D. Kasperaviciute, M. Kayikci, L. Lahnstein, K. Lawson, S.E.A. Leigh, I.U.S. Leong, F.J. Lopez, F. Maleady-Crowe, J. Mason, E.M. McDonagh, L. Moutsianas, M. Mueller, N. Murugaesu, A.C. Need, C.A. Odhams, C. Patch, D. Perez-Gil, D. Polychronopoulos, J. Pullinger, T. Rahim, A. Rendon, P. Riesgo-Ferreiro, T. Rogers, M. Ryten, K. Savage, K. Sawant, R.H. Scott, A. Siddiq, A. Sieghart, D. Smedley, K.R. Smith, A. Sosinsky, W. Spooner, H.E. Stevens, A. Stuckey, R. Sultana, E.R.A. Thomas, S.R. Thompson, C. Tregidgo, A. Tucci, E. Walsh, S.A. Watters, M.J. Welland, E. Williams, K. Witkowska, S.M. Wood, M. Zarowiecki
Publikováno v:
Genetics in Medicine
Genetics in Medicine, 2022, ⟨10.1016/j.gim.2022.09.013⟩
Queen Square Genomics 2023, ' Expanding SPTAN1 monoallelic variant associated disorders : From epileptic encephalopathy to pure spastic paraplegia and ataxia ', Genetics in medicine : official journal of the American College of Medical Genetics, vol. 25, no. 1, pp. 76-89 . https://doi.org/10.1016/j.gim.2022.09.013
Genetics in Medicine, 2022, ⟨10.1016/j.gim.2022.09.013⟩
Queen Square Genomics 2023, ' Expanding SPTAN1 monoallelic variant associated disorders : From epileptic encephalopathy to pure spastic paraplegia and ataxia ', Genetics in medicine : official journal of the American College of Medical Genetics, vol. 25, no. 1, pp. 76-89 . https://doi.org/10.1016/j.gim.2022.09.013
On behalf of Queen Square Genomics On behalf of Genomics England Research Consortium; International audience; Purpose: Nonerythrocytic αII-spectrin (SPTAN1) variants have been previously associated with intellectual disability and epilepsy. We condu
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::98bed7407f3676cdb65ab360030ed566
https://hal.science/hal-03840317/document
https://hal.science/hal-03840317/document
Autor:
Mathilde Guibert, Mehdi Benkirane, Mathieu Kuchenbuch, Solène Frismand, Helene Vincent, Calina Todosi, Mathilde Renaud
Publikováno v:
Revue Neurologique. 179:S60
Autor:
Mehdi Benkirane, Dylan Da Cunha, Cecilia Marelli, Lise Larrieu, Mathilde Renaud, Jessica Varilh, Morgane Pointaux, David Baux, Olivier Ardouin, Charles Vangoethem, Magali Taulan, Benjamin Daumas Duport, Anne Bergougnoux, Anne-Gaelle Corbillé, Mireille Cossée, Raul Juntas Morales, Sylvie Tuffery-Giraud, Michel Koenig, Bertrand Isidor, Marie-Claire Vincent
Publikováno v:
Brain : a journal of neurology. 145(11)
Cerebellar ataxia, neuropathy and vestibular areflexia syndrome (CANVAS) is an inherited late-onset neurological disease caused by bi-allelic AAGGG pentanucleotide expansions within intron 2 of RFC1. Despite extensive studies, the pathophysiological
Autor:
Ibrahim Oncel, Haluk Topaloglu, Kristin Baraῆano, Robert S. Molday, Mireille Claustres, Lise Larrieu, Patrick Calvas, Maria Iascone, Romano Tenconi, Anna Chassevent, Michel Koenig, Mehdi Benkirane, Nesibe Eroglu-Ertugrul, Elif Acar Arslan, Alexander N Harrison, Claire Guissart
Publikováno v:
Journal of Neurology
Journal of Neurology, 2020, 267 (1), pp.203-213. ⟨10.1007/s00415-019-09579-4⟩
Journal of Neurology, Springer Verlag, 2020, 267 (1), pp.203-213. ⟨10.1007/s00415-019-09579-4⟩
Journal of Neurology, 2020, 267 (1), pp.203-213. ⟨10.1007/s00415-019-09579-4⟩
Journal of Neurology, Springer Verlag, 2020, 267 (1), pp.203-213. ⟨10.1007/s00415-019-09579-4⟩
International audience; ATP8A2-related disorders are autosomal recessive conditions that associate encephalopathy with or without hypotonia, psychomotor delay, abnormal movements, chorea, tremor, optic atrophy and cerebellar atrophy (CARMQ4). Through
Autor:
Jean-Louis Guéant, Lise Larrieu, Louise Tyvaert, Mehdi Benkirane, Jean-Marie Ravel, Nadège Calmels, Fabienne Ory-Magne, Philippe Casenave, Laetitia Lambert, Nathalie Drouot, Mathieu Anheim, Christine Tranchant, Morgane Pointaux, Guillaume Pisché, Yosra Halleb, Cecilia Marelli, Claire Ewenczyk, Carine Bossenmeyer-Pourié, Bruno Leheup, Mathilde Renaud, Abderrahim Oussalah, Michel Koenig, Annabelle Chaussenot, Solène Frismand, François Tison, Céline Bonnet, Jamel Chelly, Claire Lecocq
Publikováno v:
Journal of Neurology
Journal of Neurology, Springer Verlag, 2021, 268 (5), pp.1927-1937. ⟨10.1007/s00415-020-10348-x⟩
Journal of Neurology, Springer Verlag, 2021, 268 (5), pp.1927-1937. ⟨10.1007/s00415-020-10348-x⟩
STUB1 has been first associated with autosomal recessive (SCAR16, MIM# 615768) and later with dominant forms of ataxia (SCA48, MIM# 618093). Pathogenic variations in STUB1 are now considered a frequent cause of cerebellar ataxia. We aimed to improve
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::637efe2c78a1cf1f9d85c19d40ecb50f
https://hal.archives-ouvertes.fr/hal-03359686
https://hal.archives-ouvertes.fr/hal-03359686
Autor:
Naïg Gueguen, Pascal Amedro, Julie Piarroux, Pascal Reynier, Guy Lenaers, Isabelle Meunier, Mehdi Benkirane, Michel Koenig, Nicolas Leboucq, Cécile Delettre, Pierre Meyer, Agathe Roubertie, Emmanuelle Sarzi, Gaël Manes
Publikováno v:
Mitochondrion
Mitochondrion, Elsevier, 2021, pp.169-174. ⟨10.1016/j.mito.2021.05.002⟩
Mitochondrion, Elsevier, 2021, pp.169-174. ⟨10.1016/j.mito.2021.05.002⟩
Mitochondrial complex I (CI) deficiencies (OMIM 252010) are the commonest inherited mitochondrial disorders in children. Acyl-CoA dehydrogenase 9 (ACAD9) is a flavoenzyme involved chiefly in CI assembly and possibly in fatty acid oxidation. Biallelic
Autor:
Aleksandra Nadaj-Pakleza, Lucas Corti, Hélène Puccio, Mathieu Anheim, Jamel Chelly, Cecilia Marelli, Julien Tarabeux, Nicolas Dondaine, Nadège Diedhiou, Odile Gebus, Marilyne Almeras, Pauline Fahrer, Cécile Cauquil, Jean-Baptiste Chanson, Béatrice Lannes, Laura Robelin, Marie Claire Vincent, Mehdi Benkirane, Guillaume Taieb, Christine Tranchant, Gabrielle Rudolf, Matthieu Canuet, Andoni Echaniz-Laguna, Lise Larrieu, Solveig Montaut, Benoit Lhermitte
Publikováno v:
Journal of Neurology.
Cerebellar ataxia with neuropathy and vestibular areflexia syndrome (CANVAS) is a recessively inherited multisystem ataxia compromising cerebellar, vestibular, and sensory nerves, which has been associated to a pathogenic AAGGG(n) biallelic expansion
Autor:
Agatha Schlüter, Cyril Goizet, Miquel Raspall-Chaure, Almudena Chacón, Mehdi Benkirane, Lisa Pavinato, Agustí Rodríguez-Palmero, Isabelle Rouvet, Irene de la Calle, Francesco Saettini, Carlos Casasnovas, Michel Koenig, Vincent Michaud, Júlia Sala-Coromina, Melanie O’Leary, Emily O'Heir, Aurora Pujol, Alfons Macaya, Chiara Fossati, Precilla de Souza, Alfredo Brusco, David R. Adams, Heather C Mefford, Luis González Gutiérrez-Solana, Valentina Vélez-Santamaría, Maria Iascone, Estibaliz Barredo, Agathe Roubertie, Francesco Canonico, Anna Marcé-Grau, Giorgia Mandrile, Edgard Verdura, Heidi L. Rehm, Montserrat Ruiz, Laura Planas-Serra
Publikováno v:
Brain
r-IGTP. Repositorio Institucional de Producción Científica del Instituto de Investigación Germans Trias i Pujol
instname
Brain-A Journal of Neurology
Brain-A Journal of Neurology, Oxford University Press (OUP), 2021, ⟨10.1093/brain/awab124⟩
Dipòsit Digital de la UB
Universidad de Barcelona
Scientia
r-IGTP. Repositorio Institucional de Producción Científica del Instituto de Investigación Germans Trias i Pujol
instname
Brain-A Journal of Neurology
Brain-A Journal of Neurology, Oxford University Press (OUP), 2021, ⟨10.1093/brain/awab124⟩
Dipòsit Digital de la UB
Universidad de Barcelona
Scientia
Phosphoinositides are lipids that play a critical role in processes such as cellular signalling, ion channel activity and membrane trafficking. When mutated, several genes that encode proteins that participate in the metabolism of these lipids give r
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9b1969607f15890df5b654bdfd6ef362
https://fundanet.igtp.cat/Publicaciones/ProdCientif/PublicacionFrw.aspx?id=1769
https://fundanet.igtp.cat/Publicaciones/ProdCientif/PublicacionFrw.aspx?id=1769
Autor:
Sylvain Vergnet, Jean Phillipe Azulay, Isabelle Meunier, Audrey Riquet, Olivier Patat, Anna Castrioto, Laurent Pasquier, Cyril Charlin, Lena Damaj, Cécile Acquaviva, Nicolas Lebouc, Bérénice Doray, Cecilia Marelli, Morgane Pointaux, Pierre Meyer, Perrine Charles, Danielle Cuntz-Shadfar, Caroline Tillikete, Frederic Villega, Cathy Lieutard-Haag, Michel Koenig, François Rivier, Idriss Bousquet, Ganaëlle Remerand, Ulrike Walther-Louvier, Clarisse Carra-Dalliere, Victoria Gonzales, Alexandre Eusebio, Brigitte Chabrol, Emilie Carme, Pierre Labauge, Adrian Degardin, Elise Brischoux-Boucher, Brice Laurens, Laurent Kremer, Giovanni Castelnovo, Mélanie Fradin, Mehdi Benkirane, Karine Nguyen, Jean-Marie Ravel, Vincent Laugel, Emilien Bernard, Claire Guissart, Cyril Goizet, Samira Sissaoui, Agathe Roubertie, Christine Francannet, Sylvie Odent, Yosra Halleb, Xavier Ayrignac, Shahram Attarian, Fabienne Ory Magne, David Geneviève, Joel Victor Fluss, Alain Verloes, Anne Rolland, Martial Mallaret, Lydia Abou Haidar, Nadia Bahi-Buisson, David Baux, Catherine Sarret, Nicolas Carrière, Christine Coubes, Mathilde Renaud, Claire Ewenczyk, Patrick Calvas, Solène Frismand, Leila Lazaro, Bertrand Isidor, Annabelle Chaussenot, Sophie Julia, Valerie Fraix, Elsa Kaphan, Tatiana Witjas, Frédérique Fluchère, Mathieu Anheim, Christine Tranchant, William Camu, Eric Thouvenot, Lise Larrieu, Eric Bieth, Ariane Choumert, Raoul Morales, Marinha Costa Moreira, Elizabeth Ollagnon
Publikováno v:
Genetics in Medicine
Genetics in Medicine, Nature Publishing Group, In press, ⟨10.1038/s41436-021-01250-6⟩
Genetics in Medicine, Nature Publishing Group, 2021, ⟨10.1038/s41436-021-01250-6⟩
Genetics in Medicine, Nature Publishing Group, In press, ⟨10.1038/s41436-021-01250-6⟩
Genetics in Medicine, Nature Publishing Group, 2021, ⟨10.1038/s41436-021-01250-6⟩
International audience; Purpose: Diagnosis of inherited ataxia and related diseases represents a real challenge given the tremendous heterogeneity and clinical overlap of the various causes. We evaluated the efficacy of molecular diagnosis of these d
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::babfbeb68f31ca6afb2b34ab5e5a2e4e
https://hal.archives-ouvertes.fr/hal-03282716
https://hal.archives-ouvertes.fr/hal-03282716
Autor:
Solveig, Montaut, Nadège, Diedhiou, Pauline, Fahrer, Cécilia, Marelli, Benoit, Lhermitte, Laura, Robelin, Marie Claire, Vincent, Lucas, Corti, Guillaume, Taieb, Odile, Gebus, Gabrielle, Rudolf, Julien, Tarabeux, Nicolas, Dondaine, Matthieu, Canuet, Marilyne, Almeras, Mehdi, Benkirane, Lise, Larrieu, Jean-Baptiste, Chanson, Aleksandra, Nadaj-Pakleza, Andoni, Echaniz-Laguna, Cécile, Cauquil, Béatrice, Lannes, Jamel, Chelly, Mathieu, Anheim, Hélène, Puccio, Christine, Tranchant
Publikováno v:
Journal of neurology. 268(9)
Cerebellar ataxia with neuropathy and vestibular areflexia syndrome (CANVAS) is a recessively inherited multisystem ataxia compromising cerebellar, vestibular, and sensory nerves, which has been associated to a pathogenic AAGGG(n) biallelic expansion