المؤلفون: Pierre Sarda, Yves Sznajer, Florence Riant, Claire-Sophie Davoine, Christelle Tesson, Cyril Goizet, François Tison, Anthony Behin, Mélanie Fradin, Marie-Lorraine Monin, Giovanni Stevanin, Claire Ewenczyk, Rémi Valter, Pierre Labauge, Marie Coutelier, Urielle Ullmann, Didier Hannequin, Giulia Coarelli, Giovanni Castelnovo, Lionel Van Maldergem, Albert David, Mathieu Anheim, Alexis Brice, Perrine Charles, Alexandra Durr, Juliette Konop, Fanny Mochel

المساهمون: UCL - SSS/DDUV - Institut de Duve, UCL - SSS/IREC/SLUC - Pôle St.-Luc, UCL - (SLuc) Centre de génétique médicale UCL

المصدر: Brain : a journal of neurology, Vol. 140, no.6, p. 1579-1594 (2017)

مصطلحات موضوعية: Adult, Male, 0301 basic medicine, congenital, hereditary, and neonatal diseases and abnormalities, Ataxia, Adolescent, Cerebellar Ataxia, Genotype, Genetic counseling, Biology, CACNA1A, SPG7, Cohort Studies, Young Adult, 03 medical and health sciences, 0302 clinical medicine, Genetic variation, medicine, Humans, Spinocerebellar ataxia type 6, Age of Onset, Child, Aged, Genes, Dominant, Aged, 80 and over, Genetics, Cerebellar ataxia, Metalloendopeptidases, Middle Aged, channelopathies, medicine.disease, Phenotype, 030104 developmental biology, Child, Preschool, Spinocerebellar ataxia, ATPases Associated with Diverse Cellular Activities, Female, Calcium Channels, Neurology (clinical), Age of onset, medicine.symptom, 030217 neurology & neurosurgery

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::73c656bebc0031bd764a0edabd2343d9Test
https://doi.org/10.1093/brain/awx081Test

المؤلفون: Marie Coutelier, Alexandre Dionne-Laporte, Marion Stoll, Alexandra Durr, Perrine Charles, Isabel Alonso, Maxime Jacoupy, Marion Gaussen, Paula Coutinho, Fanny Mochel, Garth A. Nicholson, Fanny Morice-Picard, Stephan Züchner, Giovanni Stevanin, Juliette Konop, Rebecca Schüle, Chris Ottolenghi, Florence Habarou, José Leal Loureiro, Cyril Goizet, Raphaël Matusiak, Alexis Brice, Maxime Janin, S. Sara Morais, Christel Depienne, Guy A. Rouleau, Marina L. Kennerson, Frédéric Darios, Mathilde Mairey, Chantal M. E. Tallaksen, Jean-Marie Saudubray, Feifei Tao, Christelle M. Durand, Patrick Calvas

المساهمون: Université Catholique de Louvain = Catholic University of Louvain (UCL), École pratique des hautes études (EPHE), Université Paris sciences et lettres (PSL), Institut du Cerveau et de la Moëlle Epinière = Brain and Spine Institute (ICM), Institut National de la Santé et de la Recherche Médicale (INSERM)-CHU Pitié-Salpêtrière [AP-HP], Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Centre National de la Recherche Scientifique (CNRS), CHU de Bordeaux Pellegrin [Bordeaux], Université de Bordeaux (UB), CHU Necker - Enfants Malades [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Instituto de Ciências Biomédicas de Abel Salazar (ICBAS), Universidade do Porto, Instituto de Biologia Molecular e Celular - institute for molecular and cell biology [Porto, Portugal] (IBMC), Montreal Neurological Institute and Hospital, McGill University = Université McGill [Montréal, Canada], Dr. John T. Macdonald Foundation [Miami, FL, USA] (Department of Human Genetics), University of Miami [Coral Gables], John P. Hussman Institute for Human Genomics, University of Miami Leonard M. Miller School of Medicine (UMMSM), Sydney Medical School, University of Sydney, Sydney, NSW, 2006, Australia, Instituto de Investigação e Inovação em Saúde (I3S), Eberhard Karls University, CHU Toulouse [Toulouse], Unité différenciation épidermique et auto-immunité rhumatoïde (UDEAR), Université Toulouse III - Paul Sabatier (UT3), Université Fédérale Toulouse Midi-Pyrénées-Université Fédérale Toulouse Midi-Pyrénées-Institut National de la Santé et de la Recherche Médicale (INSERM), Centro Hospitalar de Entre o Douro e Vouga, Hospital, McGill University, Centre d'infectiologie Necker-Pasteur [CHU Necker], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Institut Pasteur [Paris], CARBILLET, Véronique, Institut du Cerveau = Paris Brain Institute (ICM), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Institut National de la Santé et de la Recherche Médicale (INSERM)-CHU Pitié-Salpêtrière [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Sorbonne Université (SU)-Sorbonne Université (SU)-Centre National de la Recherche Scientifique (CNRS), Universidade do Porto = University of Porto, Centre Hospitalier Universitaire de Toulouse (CHU Toulouse), Service de biochimie métabolique [CHU Necker], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-CHU Necker - Enfants Malades [AP-HP]

المصدر: Brain 138(8), 2191-2205 (2015). doi:10.1093/brain/awv143
Brain-A Journal of Neurology
Brain-A Journal of Neurology, Oxford University Press (OUP), 2015, 138 (8), pp.2191-2205. ⟨10.1093/brain/awv143⟩
Brain-A Journal of Neurology, 2015, 138 (8), pp.2191-2205. ⟨10.1093/brain/awv143⟩

مصطلحات موضوعية: Male, Ornithine, Candidate gene, Arginine, medicine.disease_cause, chemistry.chemical_compound, 0302 clinical medicine, [SDV.MHEP.MI]Life Sciences [q-bio]/Human health and pathology/Infectious diseases, Citrulline, Exome sequencing, Genetics, 0303 health sciences, Mutation, ALDH18A1, MESH: Middle Aged, delta-1-pyrroline-5-carboxylate synthase, genetics [Aldehyde Dehydrogenase], Middle Aged, Phenotype, 3. Good health, Pedigree, delta1-pyrroline-5-carboxylate synthase, human, MESH: Spastic Paraplegia, Hereditary / genetics, MESH: Young Adult, [SDV.MHEP.MI] Life Sciences [q-bio]/Human health and pathology/Infectious diseases, Female, metabolism [Ornithine], Adult, Adolescent, Hereditary spastic paraplegia, MESH: Pedigree, metabolism [Arginine], Glutamic Acid, MESH: Ornithine / genetics, genetics [Mutation], MESH: Spastic Paraplegia, Hereditary / metabolism, Biology, MESH: Phenotype, MESH: Aldehyde Dehydrogenase / genetics, 03 medical and health sciences, Young Adult, genetics [Spastic Paraplegia, Hereditary], MESH: Arginine / metabolism, medicine, Humans, ddc:610, hereditary spastic paraplegia, 030304 developmental biology, MESH: Adolescent, genetics [Ornithine], MESH: Humans, Spastic Paraplegia, Hereditary, MESH: Mutation / genetics, MESH: Glutamic Acid / metabolism, metabolism [Glutamic Acid], MESH: Ornithine / metabolism, MESH: Adult, Original Articles, Aldehyde Dehydrogenase, medicine.disease, MESH: Male, chemistry, metabolism [Spastic Paraplegia, Hereditary], citrulline, ornithine, Neurology (clinical), MESH: Female, 030217 neurology & neurosurgery

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::65824196cff904a241c2d95a0e9d0d03Test
https://pub.dzne.de/record/138089Test