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Nature, ISSN 0028-0836, 10/2015, Volume 526, Issue 7575, pp. 710 - 714
Journal Article
Brain, ISSN 0006-8950, 2017, Volume 140, Issue 2, pp. 287 - 305
Hereditary spastic paraplegias are heterogeneous neurodegenerative disorders characterized by progressive spasticity of the lower limbs due to degeneration of... 
Parkinsonism | Lysosomes | Neuronal ceroid lipofuscinosis | Hereditary spastic paraplegia (HSP) | Kufor-Rakeb syndrome | parkinsonism | CLINICAL SPECTRUM | PARK9 | ALPHA-SYNUCLEIN | hereditary spastic paraplegia (HSP) | neuronal ceroid lipofuscinosis | NEUROSCIENCES | CLINICAL NEUROLOGY | ATPASE ATP13A2 | SPINAL MUSCULAR-ATROPHY | LYSOSOMAL DYSFUNCTION | lysosomes | AUTOSOMAL-DOMINANT | MOTOR ADAPTER | PARKINSONS-DISEASE | Spastic Paraplegia, Hereditary - genetics | Cells, Cultured - cytology | Humans | Middle Aged | Cercopithecus aethiops | Family Health | Male | Mitochondria - ultrastructure | Spastic Paraplegia, Hereditary - diagnostic imaging | Mental Disorders - genetics | Psychiatric Status Rating Scales | Lysosomes - metabolism | Proton-Translocating ATPases - genetics | Cells, Cultured - ultrastructure | Cognition Disorders - etiology | Adult | Mental Disorders - etiology | Lysosomes - drug effects | Genetic Predisposition to Disease - genetics | Gene Expression Regulation - genetics | Enzyme Inhibitors - pharmacology | Cognition Disorders - genetics | Mitochondria - metabolism | Mitochondria - drug effects | Mutation - genetics | Gene Expression Regulation - drug effects | Lysosomes - ultrastructure | Neuropsychological Tests | Leupeptins - pharmacology | Animals | Spastic Paraplegia, Hereditary - complications | 1040 | Original
Journal Article
by van der Zee, Julie and Gijselinck, Ilse and Dillen, Lubina and Van Langenhove, Tim and Theuns, Jessie and Engelborghs, Sebastiaan and Philtjens, Stéphanie and Vandenbulcke, Mathieu and Sleegers, Kristel and Sieben, Anne and Bäumer, Veerle and Maes, Githa and Corsmit, Ellen and Borroni, Barbara and Padovani, Alessandro and Archetti, Silvana and Perneczky, Robert and Diehl‐Schmid, Janine and de Mendonça, Alexandre and Miltenberger‐Miltenyi, Gabriel and Pereira, Sónia and Pimentel, José and Nacmias, Benedetta and Bagnoli, Silvia and Sorbi, Sandro and Graff, Caroline and Chiang, Huei‐Hsin and Westerlund, Marie and Sanchez‐Valle, Raquel and Llado, Albert and Gelpi, Ellen and Santana, Isabel and Almeida, Maria Rosário and Santiago, Beatriz and Frisoni, Giovanni and Zanetti, Orazio and Bonvicini, Cristian and Synofzik, Matthis and Maetzler, Walter and vom Hagen, Jennifer Müller and Schöls, Ludger and Heneka, Michael T and Jessen, Frank and Matej, Radoslav and Parobkova, Eva and Kovacs, Gabor G and Ströbel, Thomas and Sarafov, Stayko and Tournev, Ivailo and Jordanova, Albena and Danek, Adrian and Arzberger, Thomas and Fabrizi, Gian Maria and Testi, Silvia and Salmon, Eric and Santens, Patrick and Martin, Jean‐Jacques and Cras, Patrick and Vandenberghe, Rik and De Deyn, Peter Paul and Cruts, Marc and Van Broeckhoven, Christine and van der Zee, Julie and Gijselinck, Ilse and Dillen, Lubina and Van Langenhove, Tim and Theuns, Jessie and Philtjens, Stéphanie and Sleegers, Kristel and Bäumer, Veerle and Maes, Githa and Corsmit, Ellen and Cruts, Marc and Van Broeckhoven, Christine and van der Zee, Julie and Gijselinck, Ilse and Dillen, Lubina and Van Langenhove, Tim and Philtjens, Stéphanie and Theuns, Jessie and Sleegers, Kristel and Bäumer, Veerle and Maes, Githa and Cruts, Marc and Van Broeckhoven, Christine and Engelborghs, Sebastiaan and De Deyn, Peter P and Cras, Patrick and Engelborghs, Sebastiaan and De Deyn, Peter P and Vandenbulcke, Mathieu and Vandenbulcke, Mathieu and Borroni, Barbara and Padovani, Alessandro and Archetti, Silvana and Perneczky, Robert and Diehl‐Schmid, Janine and Synofzik, Matthis and Maetzler, Walter and Müller vom Hagen, Jennifer and ... and European Early-Onset Dementia EOD and European Early-Onset Dementia Consortium
Human Mutation, ISSN 1059-7794, 02/2013, Volume 34, Issue 2, pp. 363 - 373
Journal Article
Nature Communications, ISSN 2041-1723, 12/2019, Volume 10, Issue 1, pp. 1 - 14
Charcot-Marie-Tooth disease (CMT) is a length-dependent peripheral neuropathy. The aminoacyl-tRNA synthetases constitute the largest protein family implicated... 
Regulators | Phenotypes | Insects | tRNA | Drosophila | Gene regulation | Charcot-Marie-Tooth disease | Mutation | Tyrosine-tRNA ligase | Peripheral neuropathy | Aminoacyl-tRNA ligase
Journal Article
ORPHANET JOURNAL OF RARE DISEASES, ISSN 1750-1172, 08/2019, Volume 14, Issue 1, pp. 197 - 11
Background Charcot-Marie-Tooth (CMT) disease is the most common inherited neuromuscular disorder characterized by wide clinical, genetic and pathomechanistic... 
MEDICINE, RESEARCH & EXPERIMENTAL | Novel | SERVER | DISEASE | MOTOR | GENETICS & HEREDITY | FRAMEWORK | Cluster | PMP2 | CMT | PERONEAL MUSCULAR-ATROPHY | Demyelinating | Crystals | Amino acids | Family | Genetic aspects | Structure | Fatty acids | Neurophysiology
Journal Article
by der Zee, Julie and Gijselinck, Ilse and Mossevelde, Sara and Perrone, Federica and Dillen, Lubina and Heeman, Bavo and Bäumer, Veerle and Engelborghs, Sebastiaan and Bleecker, Jan and Baets, Jonathan and Gelpi, Ellen and Rojas‐García, Ricardo and Clarimón, Jordi and Lleó, Alberto and Diehl‐Schmid, Janine and Alexopoulos, Panagiotis and Perneczky, Robert and Synofzik, Matthis and Just, Jennifer and Schöls, Ludger and Graff, Caroline and Thonberg, Håkan and Borroni, Barbara and Padovani, Alessandro and Jordanova, Albena and Sarafov, Stayko and Tournev, Ivailo and Mendonça, Alexandre and Miltenberger‐Miltényi, Gabriel and Simões do Couto, Frederico and Ramirez, Alfredo and Jessen, Frank and Heneka, Michael T and Gómez‐Tortosa, Estrella and Danek, Adrian and Cras, Patrick and Vandenberghe, Rik and Jonghe, Peter and Deyn, Peter P and Sleegers, Kristel and Cruts, Marc and Broeckhoven, Christine and Goeman, Johan and Nuytten, Dirk and Smets, Katrien and Robberecht, Wim and Damme, Philip Van and Bleecker, Jan De and Santens, Patrick and Dermaut, Bart and Versijpt, Jan and Michotte, Alex and Ivanoiu, Adrian and Deryck, Olivier and Bergmans, Bruno and Delbeck, Jean and Bruyland, Marc and Willems, Christiana and Salmon, Eric and Pastor, Pau and Ortega‐Cubero, Sara and Benussi, Luisa and Ghidoni, Roberta and Binetti, Giuliano and Hernández, Isabel and Boada, Mercè and Ruiz, Agustín and Sorbi, Sandro and Nacmias, Benedetta and Bagnoli, Silvia and Sorbi, Sandro and Sanchez‐Valle, Raquel and Llado, Albert and Santana, Isabel and Rosário Almeida, Maria and Frisoni, Giovanni B and Maetzler, Walter and Matej, Radoslav and Fraidakis, Matthew J and Kovacs, Gabor G and Fabrizi, Gian Maria and Testi, Silvia and Belgian Neurology Consortium and European Early-Onset Dementia Cons
Human Mutation, ISSN 1059-7794, 03/2017, Volume 38, Issue 3, pp. 297 - 309