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: 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: Claudia Crimella, Giacomo P. Comi, Giovanni Meola, Maria Teresa Bassi, Andrea Martinuzzi, Consiglia Pacelli, Manuela Sironi, Alessandra Tonelli, Uberto Pozzoli, Nereo Bresolin, F. Crippa, Maria Grazia D'Angelo, Anna Carla Turconi, Gaetano Villani, Francesca Redaelli, Alessandra Renieri, Alessia Arnoldi, Chris Panzeri

المصدر: Human mutation. 29(4)

مصطلحات موضوعية: Adult, Male, DNA, Complementary, Adolescent, Hereditary spastic paraplegia, Mutant, DNA Mutational Analysis, Molecular Sequence Data, Genes, Recessive, Mitochondrion, Biology, medicine.disease_cause, Cohort Studies, Genetics, medicine, Humans, Point Mutation, Child, Gene, Genetics (clinical), Sequence Deletion, Mutation, Electron Transport Complex I, Paraplegin, Base Sequence, Spastic Paraplegia, Hereditary, Point mutation, Haplotype, Metalloendopeptidases, Fibroblasts, Middle Aged, medicine.disease, Mitochondria, Muscle, Pedigree, paraplegin, SPG7, mitochondria, hereditary spastic paraplegia, complex I, Haplotypes, Italy, Codon, Nonsense, Child, Preschool, ATPases Associated with Diverse Cellular Activities, Settore MED/26 - Neurologia, Female

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::49caf9a4b7016e74421070b821c05bd2Test
https://pubmed.ncbi.nlm.nih.gov/18200586Test