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

المساهمون: Institut de Génétique et de Biologie Moléculaire et Cellulaire (IGBMC), Université de Strasbourg (UNISTRA)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Institut de génétique et biologie moléculaire et cellulaire (IGBMC), Université Louis Pasteur - Strasbourg I-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Spatax

المصدر: ISSN: 0006-8950.

مصطلحات موضوعية: Adolescent, Adult, Age of Onset, Aged, 80 and over, Calcium Channels/*genetics, Cerebellar Ataxia/*genetics/*physiopathology, Channelopathies/*genetics/*physiopathology, Child, Preschool, Cohort Studies, Female, Genes, Dominant, Genotype, Humans, Male, Metalloendopeptidases/*genetics, Middle Aged, Phenotype, Young Adult, Cacna1a, Spg7, cerebellar ataxia, channelopathies, [SDV.MHEP]Life Sciences [q-bio]/Human health and pathology

العلاقة: hal-03682262; https://hal.science/hal-03682262Test

الإتاحة: https://doi.org/10.1093/brain/awx081Test
https://hal.science/hal-03682262Test