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- [11] A Deleterious Mutation in DNAJC6 Encoding the Neuronal-Specific Clathrin-Uncoating Co-Chaperone Auxilin, Is Associated with Juvenile ParkinsonismPLOS ONE, 2012, 7 (05):Edvardson, Simon论文数: 0 引用数: 0 h-index: 0机构: Hebrew Univ Jerusalem, Med Ctr, Monique & Jacques Roboh Dept Genet Res, Jerusalem, Israel Hebrew Univ Jerusalem, Med Ctr, Monique & Jacques Roboh Dept Genet Res, Jerusalem, IsraelCinnamon, Yuval论文数: 0 引用数: 0 h-index: 0机构: Hebrew Univ Jerusalem, Med Ctr, Monique & Jacques Roboh Dept Genet Res, Jerusalem, Israel Hebrew Univ Jerusalem, Med Ctr, Monique & Jacques Roboh Dept Genet Res, Jerusalem, IsraelTa-Shma, Asaf论文数: 0 引用数: 0 h-index: 0机构: Hebrew Univ Jerusalem, Med Ctr, Monique & Jacques Roboh Dept Genet Res, Jerusalem, Israel Hebrew Univ Jerusalem, Med Ctr, Monique & Jacques Roboh Dept Genet Res, Jerusalem, IsraelShaag, Avraham论文数: 0 引用数: 0 h-index: 0机构: Hebrew Univ Jerusalem, Med Ctr, Monique & Jacques Roboh Dept Genet Res, Jerusalem, Israel Hebrew Univ Jerusalem, Med Ctr, Monique & Jacques Roboh Dept Genet Res, Jerusalem, IsraelYim, Yang-In论文数: 0 引用数: 0 h-index: 0机构: NHLBI, Cell Biol Lab, NIH, Bethesda, MD 20892 USA Hebrew Univ Jerusalem, Med Ctr, Monique & Jacques Roboh Dept Genet Res, Jerusalem, IsraelZenvirt, Shamir论文数: 0 引用数: 0 h-index: 0机构: Hebrew Univ Jerusalem, Med Ctr, Monique & Jacques Roboh Dept Genet Res, Jerusalem, Israel Hebrew Univ Jerusalem, Med Ctr, Monique & Jacques Roboh Dept Genet Res, Jerusalem, IsraelJalas, Chaim论文数: 0 引用数: 0 h-index: 0机构: Ctr Rare Jewish Genet Disorders, Brooklyn, NY USA Hebrew Univ Jerusalem, Med Ctr, Monique & Jacques Roboh Dept Genet Res, Jerusalem, IsraelLesage, Suzanne论文数: 0 引用数: 0 h-index: 0机构: Univ Paris 06, Hosp Pitie Salpetriere, CNRS UMR 7225, CRICM,INSERM,UMR S975, Paris, France Hebrew Univ Jerusalem, Med Ctr, Monique & Jacques Roboh Dept Genet Res, Jerusalem, IsraelBrice, Alexis论文数: 0 引用数: 0 h-index: 0机构: Univ Paris 06, Hosp Pitie Salpetriere, CNRS UMR 7225, CRICM,INSERM,UMR S975, Paris, France Hebrew Univ Jerusalem, Med Ctr, Monique & Jacques Roboh Dept Genet Res, Jerusalem, IsraelTaraboulos, Albert论文数: 0 引用数: 0 h-index: 0机构: Hebrew Univ Jerusalem, Hadassah Med Sch, IMRIC, IL-91010 Jerusalem, Israel Hebrew Univ Jerusalem, Med Ctr, Monique & Jacques Roboh Dept Genet Res, Jerusalem, IsraelKaestner, Klaus H.论文数: 0 引用数: 0 h-index: 0机构: Univ Penn, Sch Med, Dept Genet, Inst Diabet Obes & Metab, Philadelphia, PA 19104 USA Hebrew Univ Jerusalem, Med Ctr, Monique & Jacques Roboh Dept Genet Res, Jerusalem, IsraelGreene, Lois E.论文数: 0 引用数: 0 h-index: 0机构: NHLBI, Cell Biol Lab, NIH, Bethesda, MD 20892 USA Hebrew Univ Jerusalem, Med Ctr, Monique & Jacques Roboh Dept Genet Res, Jerusalem, IsraelElpeleg, Orly论文数: 0 引用数: 0 h-index: 0机构: Hebrew Univ Jerusalem, Med Ctr, Monique & Jacques Roboh Dept Genet Res, Jerusalem, Israel Hebrew Univ Jerusalem, Med Ctr, Monique & Jacques Roboh Dept Genet Res, Jerusalem, Israel
- [12] Juvenile dystonia-parkinsonism and dementia caused by a novel ATP13A2 frameshift mutationPARKINSONISM & RELATED DISORDERS, 2011, 17 (02) : 135 - 138Crosiers, David论文数: 0 引用数: 0 h-index: 0机构: VIB, Dept Mol Genet, Neurodegenerat Brain Dis Grp, Antwerp, Belgium Inst Born Bunge, Neurobiol Lab, Antwerp, Belgium Univ Antwerp Hosp, Dept Neurol & Child Neurol, Antwerp, Belgium Univ Antwerp, Antwerp, Belgium Univ Antwerp VIB, CDE, Dept Mol Genet, B-2610 Antwerp, Belgium论文数: 引用数: h-index:机构:Meeus, Bram论文数: 0 引用数: 0 h-index: 0机构: VIB, Dept Mol Genet, Neurodegenerat Brain Dis Grp, Antwerp, Belgium Univ Antwerp, Antwerp, Belgium Inst Born Bunge, Neurogenet Lab, Antwerp, Belgium Univ Antwerp VIB, CDE, Dept Mol Genet, B-2610 Antwerp, BelgiumNuytemans, Karen论文数: 0 引用数: 0 h-index: 0机构: VIB, Dept Mol Genet, Neurodegenerat Brain Dis Grp, Antwerp, Belgium Univ Antwerp, Antwerp, Belgium Inst Born Bunge, Neurogenet Lab, Antwerp, Belgium Univ Antwerp VIB, CDE, Dept Mol Genet, B-2610 Antwerp, BelgiumPals, Philippe论文数: 0 引用数: 0 h-index: 0机构: Univ Antwerp Hosp, Dept Neurol & Child Neurol, Antwerp, Belgium Univ Antwerp, Antwerp, Belgium Univ Antwerp VIB, CDE, Dept Mol Genet, B-2610 Antwerp, BelgiumVan Broeckhoven, Christine论文数: 0 引用数: 0 h-index: 0机构: Univ Antwerp VIB, CDE, Dept Mol Genet, B-2610 Antwerp, Belgium VIB, Dept Mol Genet, Neurodegenerat Brain Dis Grp, Antwerp, Belgium Inst Born Bunge, Neurogenet Lab, Antwerp, Belgium Univ Antwerp VIB, CDE, Dept Mol Genet, B-2610 Antwerp, Belgium论文数: 引用数: h-index:机构:论文数: 引用数: h-index:机构:
- [13] Juvenile onset dystonia-parkinsonism associated with cerebral folate deficiencyMOVEMENT DISORDERS, 2010, 25 (07) : S229 - S229Baratelli, E.论文数: 0 引用数: 0 h-index: 0Edwards, M.论文数: 0 引用数: 0 h-index: 0Carecchio, M.论文数: 0 引用数: 0 h-index: 0Jarman, P. R.论文数: 0 引用数: 0 h-index: 0Heales, S. J. R.论文数: 0 引用数: 0 h-index: 0Bhatia, K. P.论文数: 0 引用数: 0 h-index: 0
- [14] A novel homozygous PLA2G6 mutation causes dystonia-parkinsonismPARKINSONISM & RELATED DISORDERS, 2015, 21 (03) : 337 - 339Malaguti, M. C.论文数: 0 引用数: 0 h-index: 0机构: Santa Chiara Hosp, Dept Neurol, Trento, Italy Santa Chiara Hosp, Dept Neurol, Trento, ItalyMelzi, V.论文数: 0 引用数: 0 h-index: 0机构: Univ Milan, Dept Pathophysiol & Transplantat, IRCCS Fdn Ca Granda Osped Maggiore Policlin, Dino Ferrari Ctr,Neurosci Sect, Milan, Italy Santa Chiara Hosp, Dept Neurol, Trento, ItalyDi Giacopo, R.论文数: 0 引用数: 0 h-index: 0机构: Univ Trento, Ctr Mind Brain Sci CIMEC, Ctr Riabilitaz Neurocognit CeRiN, Trento, Italy Santa Chiara Hosp, Dept Neurol, Trento, ItalyMonfrini, E.论文数: 0 引用数: 0 h-index: 0机构: Univ Milan, Dept Pathophysiol & Transplantat, IRCCS Fdn Ca Granda Osped Maggiore Policlin, Dino Ferrari Ctr,Neurosci Sect, Milan, Italy Santa Chiara Hosp, Dept Neurol, Trento, ItalyDi Biase, E.论文数: 0 引用数: 0 h-index: 0机构: Univ Milan, Dept Pathophysiol & Transplantat, IRCCS Fdn Ca Granda Osped Maggiore Policlin, Dino Ferrari Ctr,Neurosci Sect, Milan, Italy Santa Chiara Hosp, Dept Neurol, Trento, ItalyFranco, G.论文数: 0 引用数: 0 h-index: 0机构: Univ Milan, Dept Pathophysiol & Transplantat, IRCCS Fdn Ca Granda Osped Maggiore Policlin, Dino Ferrari Ctr,Neurosci Sect, Milan, Italy Santa Chiara Hosp, Dept Neurol, Trento, Italy论文数: 引用数: h-index:机构:论文数: 引用数: h-index:机构:Compagnoni, G. Monzio论文数: 0 引用数: 0 h-index: 0机构: Univ Milan, Dept Pathophysiol & Transplantat, IRCCS Fdn Ca Granda Osped Maggiore Policlin, Dino Ferrari Ctr,Neurosci Sect, Milan, Italy Santa Chiara Hosp, Dept Neurol, Trento, ItalyFortis, P.论文数: 0 引用数: 0 h-index: 0机构: Univ Trento, Ctr Mind Brain Sci CIMEC, Ctr Riabilitaz Neurocognit CeRiN, Trento, Italy Santa Chiara Hosp, Dept Neurol, Trento, ItalyFeraco, P.论文数: 0 引用数: 0 h-index: 0机构: Santa Chiara Hosp, Dept Radiol, SS Neuroradiol, Trento, Italy Santa Chiara Hosp, Dept Neurol, Trento, ItalyOrrico, D.论文数: 0 引用数: 0 h-index: 0机构: Santa Chiara Hosp, Dept Neurol, Trento, Italy Santa Chiara Hosp, Dept Neurol, Trento, ItalyCucurachi, L.论文数: 0 引用数: 0 h-index: 0机构: Santa Chiara Hosp, Dept Neurol, Trento, Italy Santa Chiara Hosp, Dept Neurol, Trento, ItalyDonner, D.论文数: 0 引用数: 0 h-index: 0机构: Santa Chiara Hosp, Dept Nucl Med, Trento, Italy Santa Chiara Hosp, Dept Neurol, Trento, ItalyRizzuti, M.论文数: 0 引用数: 0 h-index: 0机构: Univ Milan, Dept Pathophysiol & Transplantat, IRCCS Fdn Ca Granda Osped Maggiore Policlin, Dino Ferrari Ctr,Neurosci Sect, Milan, Italy Santa Chiara Hosp, Dept Neurol, Trento, ItalyRonchi, D.论文数: 0 引用数: 0 h-index: 0机构: Univ Milan, Dept Pathophysiol & Transplantat, IRCCS Fdn Ca Granda Osped Maggiore Policlin, Dino Ferrari Ctr,Neurosci Sect, Milan, Italy Santa Chiara Hosp, Dept Neurol, Trento, ItalyBonato, S.论文数: 0 引用数: 0 h-index: 0机构: Univ Milan, Dept Pathophysiol & Transplantat, IRCCS Fdn Ca Granda Osped Maggiore Policlin, Dino Ferrari Ctr,Neurosci Sect, Milan, Italy Santa Chiara Hosp, Dept Neurol, Trento, Italy论文数: 引用数: h-index:机构:Corti, S.论文数: 0 引用数: 0 h-index: 0机构: Univ Milan, Dept Pathophysiol & Transplantat, IRCCS Fdn Ca Granda Osped Maggiore Policlin, Dino Ferrari Ctr,Neurosci Sect, Milan, Italy Santa Chiara Hosp, Dept Neurol, Trento, ItalyComi, G. P.论文数: 0 引用数: 0 h-index: 0机构: Univ Milan, Dept Pathophysiol & Transplantat, IRCCS Fdn Ca Granda Osped Maggiore Policlin, Dino Ferrari Ctr,Neurosci Sect, Milan, Italy Santa Chiara Hosp, Dept Neurol, Trento, ItalyDi Fonzo, A.论文数: 0 引用数: 0 h-index: 0机构: Univ Milan, Dept Pathophysiol & Transplantat, IRCCS Fdn Ca Granda Osped Maggiore Policlin, Dino Ferrari Ctr,Neurosci Sect, Milan, Italy Santa Chiara Hosp, Dept Neurol, Trento, Italy
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- [16] Parkinsonism mutations in DNAJC6 cause lipid defects and neurodegeneration that are rescued by Synj1NPJ PARKINSONS DISEASE, 2023, 9 (01)Jacquemyn, Julie论文数: 0 引用数: 0 h-index: 0机构: KU Leuven VIB, Ctr Brain & Dis Res, B-3000 Leuven, Belgium Katholieke Univ Leuven, Leuven Brain Inst, Dept Neurosci, Mission Lucid, B-3000 Leuven, Belgium Univ Alberta, Neurosci & Mental Hlth Inst, Dept Physiol, Dept Cell Biol,Grp Mol & Cell Biol Lipids, Edmonton, AB, Canada KU Leuven VIB, Ctr Brain & Dis Res, B-3000 Leuven, BelgiumKuenen, Sabine论文数: 0 引用数: 0 h-index: 0机构: KU Leuven VIB, Ctr Brain & Dis Res, B-3000 Leuven, Belgium Katholieke Univ Leuven, Leuven Brain Inst, Dept Neurosci, Mission Lucid, B-3000 Leuven, Belgium KU Leuven VIB, Ctr Brain & Dis Res, B-3000 Leuven, BelgiumSwerts, Jef论文数: 0 引用数: 0 h-index: 0机构: KU Leuven VIB, Ctr Brain & Dis Res, B-3000 Leuven, Belgium Katholieke Univ Leuven, Leuven Brain Inst, Dept Neurosci, Mission Lucid, B-3000 Leuven, Belgium KU Leuven VIB, Ctr Brain & Dis Res, B-3000 Leuven, BelgiumPavie, Benjamin论文数: 0 引用数: 0 h-index: 0机构: KU Leuven VIB, Ctr Brain & Dis Res, B-3000 Leuven, Belgium Katholieke Univ Leuven, Leuven Brain Inst, Dept Neurosci, Mission Lucid, B-3000 Leuven, Belgium Bioimaging Core VIB, B-3000 Leuven, Belgium KU Leuven VIB, Ctr Brain & Dis Res, B-3000 Leuven, BelgiumVijayan, Vinoy论文数: 0 引用数: 0 h-index: 0机构: KU Leuven VIB, Ctr Brain & Dis Res, B-3000 Leuven, Belgium Katholieke Univ Leuven, Leuven Brain Inst, Dept Neurosci, Mission Lucid, B-3000 Leuven, Belgium KU Leuven VIB, Ctr Brain & Dis Res, B-3000 Leuven, BelgiumKilic, Ayse论文数: 0 引用数: 0 h-index: 0机构: KU Leuven VIB, Ctr Brain & Dis Res, B-3000 Leuven, Belgium Katholieke Univ Leuven, Leuven Brain Inst, Dept Neurosci, Mission Lucid, B-3000 Leuven, Belgium KU Leuven VIB, Ctr Brain & Dis Res, B-3000 Leuven, BelgiumChabot, Dries论文数: 0 引用数: 0 h-index: 0机构: KU Leuven VIB, Ctr Brain & Dis Res, B-3000 Leuven, Belgium Katholieke Univ Leuven, Leuven Brain Inst, Dept Neurosci, Mission Lucid, B-3000 Leuven, Belgium KU Leuven VIB, Ctr Brain & Dis Res, B-3000 Leuven, BelgiumWang, Yu-Chun论文数: 0 引用数: 0 h-index: 0机构: KU Leuven VIB, Ctr Brain & Dis Res, B-3000 Leuven, Belgium Katholieke Univ Leuven, Leuven Brain Inst, Dept Neurosci, Mission Lucid, B-3000 Leuven, Belgium VIB, VIB Technol Watch, Technol Innovat Lab, Ghent, Belgium KU Leuven VIB, Ctr Brain & Dis Res, B-3000 Leuven, BelgiumSchoovaerts, Nils论文数: 0 引用数: 0 h-index: 0机构: KU Leuven VIB, Ctr Brain & Dis Res, B-3000 Leuven, Belgium Katholieke Univ Leuven, Leuven Brain Inst, Dept Neurosci, Mission Lucid, B-3000 Leuven, Belgium KU Leuven VIB, Ctr Brain & Dis Res, B-3000 Leuven, BelgiumCorthout, Nikky论文数: 0 引用数: 0 h-index: 0机构: KU Leuven VIB, Ctr Brain & Dis Res, B-3000 Leuven, Belgium Katholieke Univ Leuven, Leuven Brain Inst, Dept Neurosci, Mission Lucid, B-3000 Leuven, Belgium Bioimaging Core VIB, B-3000 Leuven, Belgium KU Leuven VIB, Ctr Brain & Dis Res, B-3000 Leuven, BelgiumVerstreken, Patrik论文数: 0 引用数: 0 h-index: 0机构: KU Leuven VIB, Ctr Brain & Dis Res, B-3000 Leuven, Belgium Katholieke Univ Leuven, Leuven Brain Inst, Dept Neurosci, Mission Lucid, B-3000 Leuven, Belgium KU Leuven VIB, Ctr Brain & Dis Res, B-3000 Leuven, Belgium
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