المؤلفون: Koen L.I. van Gassen, Jan H. Veldink, Bart P.C. van de Warrenburg, Leonard H. van den Berg, Charlotte D. C. C. van der Heijden, Hubertus P. H. Kremer, Erik-Jan Kamsteeg, Susanne T. de Bot, Corien C. Verschuuren-Bemelmans, Wilfred F. A. den Dunnen, Hans Scheffer

المساهمون: Molecular Neuroscience and Ageing Research (MOLAR)

المصدر: Brain, 135, 2994-3004
Brain, 135, Pt 10, pp. 2994-3004
Brain, 135, 2994-3004. Oxford University Press
Brain; Vol 135

مصطلحات موضوعية: Pathology, medicine.medical_specialty, Ataxia, Cerebellar Ataxia, Genotype, Hereditary spastic paraplegia, DCN MP - Plasticity and memory, Biology, OPA1, SPG7, Genomic disorders and inherited multi-system disorders DCN MP - Plasticity and memory [IGMD 3], Genomic disorders and inherited multi-system disorders [IGMD 3], Cohort Studies, 03 medical and health sciences, paraplegia, 0302 clinical medicine, Atrophy, MITOCHONDRIA, Optic Nerve Diseases, medicine, Missense mutation, Humans, Spasticity, Angiopoietin-Like Protein 6, Genetic Association Studies, 030304 developmental biology, Netherlands, Genetics, 0303 health sciences, Cerebellar ataxia, MUTATIONS, Spastic Paraplegia, Hereditary, ataxia, M-AAA PROTEASE, spasticity, Metalloendopeptidases, DEGENERATION, IMPAIRMENT, medicine.disease, Angiopoietin-like Proteins, Phenotype, Mutation, Spinocerebellar ataxia, ATPases Associated with Diverse Cellular Activities, Neurology (clinical), medicine.symptom, Spastic paraplegia type 7, Angiopoietins, 030217 neurology & neurosurgery

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1dd98982a16b77e725b17203ccc162d9Test
https://pubmed.ncbi.nlm.nih.gov/22964162Test

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