%0 Journal Article
%A Lesage, Suzanne
%A Drouet, Valérie
%A Majounie, Elisa
%A Deramecourt, Vincent
%A Jacoupy, Maxime
%A Nicolas, Aude
%A Cormier-Dequaire, Florence
%A Hassoun, Sidi Mohamed
%A Pujol, Claire
%A Ciura, Sorana
%A Erpapazoglou, Zoi
%A Usenko, Tatiana
%A Maurage, Claude-Alain
%A Sahbatou, Mourad
%A Liebau, Stefan
%A Ding, Jinhui
%A Bilgic, Basar
%A Emre, Murat
%A Erginel-Unaltuna, Nihan
%A Guven, Gamze
%A Tison, François
%A Tranchant, Christine
%A Vidailhet, Marie
%A Corvol, Jean-Christophe
%A Krack, Paul
%A Leutenegger, Anne-Louise
%A Nalls, Michael A
%A Hernandez, Dena G
%A Heutink, Peter
%A Gibbs, J Raphael
%A Hardy, John
%A Wood, Nicholas W
%A Gasser, Thomas
%A Durr, Alexandra
%A Deleuze, Jean-François
%A Tazir, Meriem
%A Destée, Alain
%A Lohmann, Ebba
%A Kabashi, Edor
%A Singleton, Andrew
%A Corti, Olga
%A Brice, Alexis
%A Study, French Parkinson's Disease Genetics
%A Consortium, International Parkinson's Disease Genomics
%A Lesage, Suzanne
%A Tison, François
%A Vidailhet, Marie
%A Corvol, Jean-Christophe
%A Agid, Yves
%A Anheim, Mathieu
%A Bonnet, Anne-Marie
%A Borg, Michel
%A Broussolle, Emmanuel
%A Damier, Philippe
%A Destée, Alain
%A Durif, Franck
%A Krack, Paul
%A Klebe, Stephan
%A Martinez, Maria
%A Pollak, Pierre
%A Rascol, Olivier
%A Tranchant, Christine
%A Vérin, Marc
%A Viallet, François
%A Brice, Alexis
%A Lesage, Suzanne
%A Majounie, Elisa
%A Tison, François
%A Vidailhet, Marie
%A Corvol, Jean Christophe
%A Nalls, Michael A
%A Gibbs, J Raphael
%A Arepalli, Sampath
%A Barker, Roger A
%A Bettella, Francesco
%A Bhatia, Kailash
%A de Bie, Rob M A
%A Biffi, Alessandro
%A Bloem, Bastiaan R
%A Bochdanovits, Zoltan
%A Bonin, Michael
%A Lesage, Suzanne
%A Tison, François
%A Vidailhet, Marie
%A Corvol, Jean-Christophe
%A Agid, Yves
%A Anheim, Mathieu
%A Bonnet, Anne-Marie
%A Borg, Michel
%A Broussolle, Emmanuel
%A Damier, Philippe
%A Destée, Alain
%A Durif, Franck
%A Krack, Paul
%A Klebe, Stephan
%A Martinez, Maria
%A Pollak, Pierre
%A Rascol, Olivier
%A Tranchant, Christine
%A Vérin, Marc
%A Bras, Jose M
%A Brooks, Janet
%A Burn, David J
%A Charlesworth, Gavin
%A Chen, Honglei
%A Chinnery, Patrick F
%A Chong, Sean
%A Clarke, Carl E
%A Cookson, Mark R
%A Counsell, Carl
%A Damier, Philippe
%A Dartigues, Jean-François
%A Deloukas, Panos
%A Deuschl, Günther
%A Dexter, David T
%A van Dijk, Karin D
%A Dillman, Allissa
%A Dong, Jing
%A Durif, Frank
%A Edkins, Sarah
%A Escott-Price, Valentina
%A Evans, Jonathan R
%A Foltynie, Thomas
%A Gao, Jianjun
%A Gardner, Michelle
%A Goate, Alison
%A Gray, Emma
%A Guerreiro, Rita
%A Harris, Clare
%A van Hilten, Jacobus J
%A Hofman, Albert
%A Hollenbeck, Albert
%A Holmans, Peter
%A Holton, Janice
%A Hu, Michèle
%A Huang, Xuemei
%A Hudson, Gavin
%A Hunt, Sarah E
%A Huttenlocher, Johanna
%A Illig, Thomas
%A Jónsson, Pálmi V
%A Kilarski, Laura L
%A Lambert, Jean-Charles
%A Langford, Cordelia
%A Lees, Andrew
%A Lichtner, Peter
%A Limousin, Patricia
%A Lopez, Grisel
%A Lorenz, Delia
%A Lubbe, Steven
%A Lungu, Codrin
%A Martinez, María
%A Mätzler, Walter
%A McNeill, Alisdair
%A Moorby, Catriona
%A Moore, Matthew
%A Morrison, Karen E
%A Mudanohwo, Ese
%A O'Sullivan, Sean S
%A Owen, Michael J
%A Pearson, Justin
%A Perlmutter, Joel S
%A Pétursson, Hjörvar
%A Plagnol, Vincent
%A Pollak, Pierre
%A Post, Bart
%A Potter, Simon
%A Ravina, Bernard
%A Revesz, Tamas
%A Riess, Olaf
%A Rivadeneira, Fernando
%A Ryten, Mina
%A Saad, Mohamad
%A Simón-Sánchez, Javier
%A Sawcer, Stephen
%A Schapira, Anthony
%A Scheffer, Hans
%A Shaw, Karen
%A Sheerin, Una-Marie
%A Shoulson, Ira
%A Shulman, Joshua
%A Sidransky, Ellen
%A Spencer, Chris C A
%A Stefánsson, Hreinn
%A Stefánsson, Kári
%A Stockton, Joanna D
%A Strange, Amy
%A Talbot, Kevin
%A Tanner, Carlie M
%A Tashakkori-Ghanbaria, Avazeh
%A Trabzuni, Daniah
%A Traynor, Bryan J
%A Uitterlinden, André G
%A Velseboer, Daan
%A Walker, Robert
%A van de Warrenburg, Bart
%A Wickremaratchi, Mirdhu
%A Williams-Gray, Caroline H
%A Winder-Rhodes, Sophie
%A Williams, Nigel
%A Morris, Huw R
%A Hardy, John
%A Wood, Nicholas W
%A Singleton, Andrew B
%A Brice, Alexis
%T Loss of VPS13C Function in Autosomal-Recessive Parkinsonism Causes Mitochondrial Dysfunction and Increases PINK1/Parkin-Dependent Mitophagy.
%J The American journal of human genetics
%V 98
%N 3
%@ 0002-9297
%C New York, NY
%I Elsevier
%M DZNE-2020-04778
%P 500-513
%D 2016
%X Autosomal-recessive early-onset parkinsonism is clinically and genetically heterogeneous. The genetic causes of approximately 50
%K Adult
%K Aged
%K Animals
%K COS Cells
%K Case-Control Studies
%K Consanguinity
%K Female
%K Gene Silencing
%K Genetic Heterogeneity
%K HEK293 Cells
%K Heterozygote
%K Homozygote
%K Humans
%K Male
%K Middle Aged
%K Mitophagy: genetics
%K Parkinsonian Disorders: diagnosis
%K Parkinsonian Disorders: genetics
%K Pedigree
%K Phenotype
%K Protein Kinases: genetics
%K Protein Kinases: metabolism
%K Proteins: genetics
%K Proteins: metabolism
%K Reproducibility of Results
%K Turkey
%K Ubiquitin-Protein Ligases: genetics
%K Ubiquitin-Protein Ligases: metabolism
%K Proteins (NLM Chemicals)
%K VPS13C protein, human (NLM Chemicals)
%K Ubiquitin-Protein Ligases (NLM Chemicals)
%K parkin protein (NLM Chemicals)
%K Protein Kinases (NLM Chemicals)
%K PTEN-induced putative kinase (NLM Chemicals)
%F PUB:(DE-HGF)16
%9 Journal Article
%$ pmid:26942284
%2 pmc:PMC4800038
%R 10.1016/j.ajhg.2016.01.014
%U https://pub.dzne.de/record/138456