المساهمون: Yuri Seo, Hyun Taek Lim, Byung Joo Lee, Jinu Han, Seo, Yuri

مصطلحات موضوعية: ATPases Associated with Diverse Cellular Activities / genetics, Adolescent, Humans, Male, Metalloendopeptidases / genetics, Mutation, Optic Atrophy* / diagnosis, Optic Atrophy* / genetics, Optic Atrophy* / pathology, Optic Atrophy, Autosomal Dominant, Paraplegia / genetics, Phenotype, Spastic Paraplegia, Hereditary* / complications, Hereditary* / diagnosis, Hereditary* / genetics, SPG7, autosomal dominant optic atrophy, infantile nystagmus syndrome

العلاقة: AMERICAN JOURNAL OF MEDICAL GENETICS PART A; J00091; OAK-2023-00601; OAK-2023-00602; https://ir.ymlib.yonsei.ac.kr/handle/22282913/194059Test; T202301866; AMERICAN JOURNAL OF MEDICAL GENETICS PART A, Vol.191(2) : 582-585, 2023-02

الإتاحة: https://doi.org/10.1002/ajmg.a.63037Test
https://ir.ymlib.yonsei.ac.kr/handle/22282913/194059Test

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, SPATAX network

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: ATPases Associated with Diverse Cellular Activities, Adolescent, Adult, Age of Onset, Aged, 80 and over, Calcium Channels, Cerebellar Ataxia, Channelopathies, Child, Preschool, Cohort Studies, Female, Genes, Dominant, Genotype, Humans, Male, Metalloendopeptidases, Middle Aged, Phenotype, Young Adult, CACNA1A, SPG7

العلاقة: boreal:204630; http://hdl.handle.net/2078.1/204630Test; info:pmid/28444220; urn:ISSN:0006-8950; urn:EISSN:1460-2156

الإتاحة: https://doi.org/10.1093/brain/awx081Test
http://hdl.handle.net/2078.1/204630Test

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, SPATAX network

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: ATPases Associated with Diverse Cellular Activities, Adolescent, Adult, Age of Onset, Aged, 80 and over, Calcium Channels, Cerebellar Ataxia, Channelopathies, Child, Preschool, Cohort Studies, Female, Genes, Dominant, Genotype, Humans, Male, Metalloendopeptidases, Middle Aged, Phenotype, Young Adult, CACNA1A, SPG7

العلاقة: boreal:204630; http://hdl.handle.net/2078.1/204630Test; info:pmid/28444220; urn:ISSN:0006-8950; urn:EISSN:1460-2156

الإتاحة: https://doi.org/10.1093/brain/awx081Test
http://hdl.handle.net/2078.1/204630Test

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: 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