المؤلفون: Roberto Ceravolo, Daniela Frosini, Gabriele Bellini, Gabriele Siciliano, E Unti, Eleonora Del Prete

المصدر: BMC Neurology, Vol 21, Iss 1, Pp 1-6 (2021)
BMC Neurology

مصطلحات موضوعية: Adult, Male, Pediatrics, medicine.medical_specialty, Ataxia, Neurological examination, SPG7, Atrophy, Case report, Medicine, Humans, Spasticity, Ataxic Gait, RC346-429, Aged, Nigrostriatal denervation, Dopamine Plasma Membrane Transport Proteins, medicine.diagnostic_test, Cerebellar ataxia, business.industry, Spastic Paraplegia, Hereditary, Limb ataxia, Metalloendopeptidases, General Medicine, Multiple system atrophy, medicine.disease, nervous system diseases, nervous system, DAT-SCAN imaging, ATPases Associated with Diverse Cellular Activities, Neurology (clinical), Neurology. Diseases of the nervous system, medicine.symptom, business, Spastic paraplegia type 7

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e5e76b778643a83aa07ef9ddf7232e08Test
https://doaj.org/article/284fde4240e74a5fab5935c94ba2cd9dTest

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: Marta Ferrero, G. De Michele, Elisa Pozzi, Gabriella Silvestri, L. Pradotto, Elisa Giorgio, Simona Cavalieri, Elisa Rubino, Cecilia Mancini, Filippo M. Santorelli, Antonella Antenora, Anna Rubegni, Alfredo Brusco, Melissa Barghigiani, Siro Bagnoli, Fabio Sirchia, Alessandro Mauro, Alessandro Filla, Patrizia Ferrero, S. Piacentini, Laura Orsi, Maurizio Zibetti, E. Di Gregorio, Paolo Prontera, Pasquale Nigro, Alessandra Tessa, Evelise Riberi

المساهمون: Mancini, C, Giorgio, E, Rubegni, A, Pradotto, L, Bagnoli, S, Rubino, E, Prontera, P, Cavalieri, S, Di Gregorio, E, Ferrero, M, Pozzi, E, Riberi, E, Ferrero, P, Nigro, P, Mauro, A, Zibetti, M, Tessa, A, Barghigiani, M, Antenora, A, Sirchia, F, Piacentini, S, Silvestri, G, De Michele, G, Filla, A, Orsi, L, Santorelli, Fm, Brusco, A

مصطلحات موضوعية: Male, Urinary urgency, hereditary ataxia, SCAR, Ala510Val, SPG7, paraplegin, spastic ataxia, Compound heterozygosity, Gastroenterology, Polymerase Chain Reaction, Cohort Studies, Dysarthria, 0302 clinical medicine, Prevalence, Medicine, 030212 general & internal medicine, Age of Onset, Sanger sequencing, Aged, 80 and over, Paraplegin, Homozygote, Metalloendopeptidases, Middle Aged, Phenotype, Neurology, Italy, symbols, Female, medicine.symptom, congenital, hereditary, and neonatal diseases and abnormalities, medicine.medical_specialty, Heterozygote, Ataxia, Cerebellar Ataxia, 03 medical and health sciences, symbols.namesake, Internal medicine, Humans, Genetic Association Studies, Aged, Ala510Valhereditary ataxiaparapleginautosomal recessive spinocerebellar ataxiasspastic ataxiaSPG7, Cerebellar ataxia, business.industry, Mutation, ATPases Associated with Diverse Cellular Activities, Neurology (clinical), business, 030217 neurology & neurosurgery

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4f22badd62e6dfb7eea28f5a6eeed26eTest
http://hdl.handle.net/2318/1678964Test

المؤلفون: Stephan Klebe, Alain Destée, Michel Clanet, Christel Depienne, Guilhem Solé, Jérôme De Seze, Georges Challe, Perrine Charles, Hélène Dollfus, Elisabeth Ollagnon, Alfredo Brusco, Jean-Michel Mayer, Josseline Kaplan, Giovanni Stevanin, Alexis Brice, Bertrand Fontaine, Sylvie Gerber, Xavier Ferrer, Patrick F. Chinnery, Estelle Fedirko, Julien Cottineau, Cecilia Mancini, Philippe Busson, Alexandra Durr, Cécile Cazeneuve, Elodie Lejeune, Jean-Michel Rozet, Mathieu Anheim

مصطلحات موضوعية: Pathology, Audiology, Optic neuropathy, 0302 clinical medicine, Optic Nerve Diseases, Spastic, HSP, 0303 health sciences, 05 social sciences, Metalloendopeptidases, Middle Aged, 3. Good health, Pedigree, Phenotype, Neurology, Cerebellar atrophy, Spastic paraplegia, SPG7, Optic atrophy, medicine.symptom, Paraplegia, Adult, Spastic gait, medicine.medical_specialty, Adolescent, Mutation, Missense, 050105 experimental psychology, 03 medical and health sciences, Young Adult, Physical medicine and rehabilitation, medicine, Humans, 0501 psychology and cognitive sciences, In patient, Spasticity, 030304 developmental biology, Aged, Cerebellar ataxia, business.industry, Spastic Paraplegia, Hereditary, Original Articles, medicine.disease, Peripheral neuropathy, Mutation, ATPases Associated with Diverse Cellular Activities, Neurology (clinical), business, Optic nerve disorder, 030217 neurology & neurosurgery

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::524f200251390e2c0b112540e286e793Test
http://hdl.handle.net/2318/127652Test