المؤلفون: Pfeffer, Gerald, Gorman, Gráinne S, Griffin, Helen, Kurzawa-Akanbi, Marzena, Blakely, Emma L, Wilson, Ian, Sitarz, Kamil, Moore, David, Murphy, Julie L, Alston, Charlotte L, Pyle, Angela, Coxhead, Jon, Payne, Brendan, Gorrie, George H, Longman, Cheryl, Hadjivassiliou, Marios, McConville, John, Dick, David, Imam, Ibrahim, Hilton, David, Norwood, Fiona, Baker, Mark R, Jaiser, Stephan R, Yu-Wai-Man, Patrick, Farrell, Michael, McCarthy, Allan, Lynch, Timothy, McFarland, Robert, Schaefer, Andrew M, Turnbull, Douglass M, Horvath, Rita, Taylor, Robert W, Chinnery, Patrick F

مصطلحات موضوعية: SPG7, chronic progressive external ophthalmoplegia, hereditary spastic paraplegia, mtDNA maintenance, paraplegin, ATPases Associated with Diverse Cellular Activities, Aged, Chronic Disease, DNA Mutational Analysis, DNA, Mitochondrial, Electric Stimulation, Electron Transport Complex IV, Evoked Potentials, Motor, Female, Genetic Association Studies, Humans, Magnetic Resonance Imaging, Male, Metalloendopeptidases, Middle Aged, Mitochondrial Diseases, Muscle, Skeletal, Mutation, Ophthalmoplegia, Chronic Progressive External, Phenotype, Reaction Time

وصف الملف: Print-Electronic; application/pdf

العلاقة: https://www.repository.cam.ac.uk/handle/1810/290360Test

الإتاحة: https://doi.org/10.17863/CAM.37590Test
https://www.repository.cam.ac.uk/handle/1810/290360Test

المؤلفون: Coarelli, Giulia, Schule, Rebecca, Schöls, Ludger, Deconinck, Tine, Masrori, Pegah, Fontaine, Bertrand, Klockgether, Thomas, D'Angelo, Maria Grazia, Monin, Marie-Lorraine, De Bleecker, Jan, Migeotte, Isabelle, Charles, Perrine, van de Warrenburg, Bart P C, Bassi, Maria Teresa, Klopstock, Thomas, Mochel, Fanny, Ollagnon-Roman, Elisabeth, D'Hooghe, Marc, Kamm, Christoph, Kurzwelly, Delia, Papin, Melanie, Davoine, Claire-Sophie, Banneau, Guillaume, De Jonghe, Peter, Tezenas du Montcel, Sophie, Seilhean, Danielle, Brice, Alexis, Duyckaerts, Charles, Stevanin, Giovanni, Durr, Alexandra, Ewenczyk, Claire, Martinuzzi, Andrea, Synofzik, Matthis, Hamer, Elisa G, Baets, Jonathan, Anheim, Mathieu

المصدر: Neurology 92(23), e2679-e2690 (2019). doi:10.1212/WNL.0000000000007606

مصطلحات موضوعية: info:eu-repo/classification/ddc/610, White People: genetics, ATPases Associated with Diverse Cellular Activities: genetics, Adult, Cerebellar Ataxia: genetics, Cerebellar Ataxia: physiopathology, Cohort Studies, Electromyography, European Continental Ancestry Group: genetics, Female, Humans, Loss of Function Mutation, Magnetic Resonance Imaging, Male, Metalloendopeptidases: genetics, Middle Aged, Paraplegia: genetics, Paraplegia: physiopathology, Phenotype, Polymorphism, Single Nucleotide, Spastic Paraplegia, Hereditary: genetics, Hereditary: physiopathology, Young Adult, Metalloendopeptidases, SPG7 protein, human, ATPases Associated with Diverse Cellular Activities

جغرافية الموضوع: DE

العلاقة: info:eu-repo/semantics/altIdentifier/issn/1526-632X; info:eu-repo/semantics/altIdentifier/pmid/pmid:31068484; info:eu-repo/semantics/altIdentifier/issn/0028-3878; https://pub.dzne.de/record/140892Test; https://pub.dzne.de/search?p=id:%22DZNE-2020-07214%22Test

الإتاحة: https://doi.org/10.1212/WNL.0000000000007606Test
https://pub.dzne.de/record/140892Test
https://pub.dzne.de/search?p=id:%22DZNE-2020-07214%22Test

المؤلفون: Ludger Schöls, Isabelle Migeotte, Claire Sophie Davoine, Mélanie Papin, Pegah Masrori, Bart P.C. van de Warrenburg, Rebecca Schüle, Mathieu Anheim, Marc D'Hooghe, Elisabeth Ollagnon-Roman, Charles Duyckaerts, Claire Ewenczyk, Andrea Martinuzzi, Jonathan Baets, Marie Lorraine Monin, Giulia Coarelli, T Deconinck, Maria Grazia D'Angelo, Sophie Tezenas du Montcel, Alexis Brice, Thomas Klockgether, Delia Kurzwelly, Fanny Mochel, Perrine Charles, Peter De Jonghe, Elisa E.G. Hamer, Matthis Synofzik, B. Fontaine, Maria Teresa Bassi, Christoph Kamm, Danielle Seilhean, Giovanni Stevanin, Thomas Klopstock, Jan De Bleecker, Alexandra Durr, Guillaume Banneau

المساهمون: 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], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Sorbonne Université (SU)-Centre National de la Recherche Scientifique (CNRS), Service de Neurochirurgie [CHU Pitié-Salpêtrière], CHU Pitié-Salpêtrière [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Hertie-Institute for Clinical Brain Research, Département de Neurologie, CHU Strasbourg, Centre de recherche en Myologie – U974 SU-INSERM, Institut National de la Santé et de la Recherche Médicale (INSERM)-Sorbonne Université (SU), Munich Cluster for systems neurology [Munich] (SyNergy), Technische Universität Munchen - Université Technique de Munich [Munich, Allemagne] (TUM)-Ludwig-Maximilians-Universität München (LMU), Hôpital de la Croix-Rousse [CHU - HCL], Hospices Civils de Lyon (HCL), École pratique des hautes études (EPHE), Université Paris sciences et lettres (PSL), Département de Biostatistique, Santé Publique et Information Médicale [CHU Pitié-Salpêtrière] (BIOSPIM ), Institut Pierre Louis d'Epidémiologie et de Santé Publique (iPLESP), Sorbonne Université (SU)-Institut National de la Santé et de la Recherche Médicale (INSERM), Service de Neuropathologie [CHU Pitié Salpêtrière], Laboratoire de Neuropathologie Raymond Escourolle, Centre de Recherche en Myologie

المصدر: Neurology
Neurology, 92, e2679-e2690
Neurology, American Academy of Neurology, 2019, 92 (23), pp.e2679-e2690. ⟨10.1212/WNL.0000000000007606⟩
Neurology 92(23), e2679-e2690 (2019). doi:10.1212/WNL.0000000000007606
Neurology, 92, 23, pp. e2679-e2690
Neurology, 92 (23

مصطلحات موضوعية: 0301 basic medicine, Male, physiopathology [Paraplegia], Gastroenterology, Cohort Studies, genetics [Metalloendopeptidases], 0302 clinical medicine, Loss of Function Mutation, Spastic, genetics [ATPases Associated with Diverse Cellular Activities], genetics [Cerebellar Ataxia], Metalloendopeptidases, Sensory loss, Middle Aged, Disorders of movement Donders Center for Medical Neuroscience [Radboudumc 3], Magnetic Resonance Imaging, genetics [European Continental Ancestry Group], Phenotype, Cohort, Female, [SDV.NEU]Life Sciences [q-bio]/Neurons and Cognition [q-bio.NC], medicine.symptom, physiopathology [Cerebellar Ataxia], Paraplegia, Adult, medicine.medical_specialty, Ataxia, Cerebellar Ataxia, genetics [White People], SPG7 protein, human, Polymorphism, Single Nucleotide, Article, White People, genetics [Paraplegia], 03 medical and health sciences, Young Adult, Atrophy, Neurologie, Internal medicine, genetics [Spastic Paraplegia, Hereditary], physiopathology [Spastic Paraplegia, Hereditary], medicine, Humans, Spasticity, ddc:610, Cerebellar ataxia, business.industry, Electromyography, Spastic Paraplegia, Hereditary, medicine.disease, 030104 developmental biology, [SDV.GEN.GH]Life Sciences [q-bio]/Genetics/Human genetics, ATPases Associated with Diverse Cellular Activities, Neurology (clinical), Human medicine, business, 030217 neurology & neurosurgery

وصف الملف: 1 full-text file(s): application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ad13a0fe5a53812528a1024662571ae0Test
https://hdl.handle.net/10067/1619380151162165141Test