LRRK2 mutant iPSC-derived DA neurons demonstrate increased susceptibility to oxidative stress HN Nguyen, B Byers, B Cord, A Shcheglovitov, J Byrne, P Gujar, K Kee, ... Cell stem cell 8 (3), 267-280, 2011 | 887 | 2011 |
Identification and rescue of α-synuclein toxicity in Parkinson patient–derived neurons CY Chung, V Khurana, PK Auluck, DF Tardiff, JR Mazzulli, F Soldner, ... Science 342 (6161), 983-987, 2013 | 516 | 2013 |
Phenotypic variation in a large Swedish pedigree due to SNCA duplication and triplication J Fuchs, C Nilsson, J Kachergus, M Munz, EM Larsson, B Schule, ... Neurology 68 (12), 916-922, 2007 | 493 | 2007 |
β2-Adrenoreceptor is a regulator of the α-synuclein gene driving risk of Parkinson’s disease S Mittal, K Bjørnevik, DS Im, A Flierl, X Dong, JJ Locascio, KM Abo, ... Science 357 (6354), 891-898, 2017 | 438 | 2017 |
Functional impairment in miro degradation and mitophagy is a shared feature in familial and sporadic Parkinson’s disease CH Hsieh, A Shaltouki, AE Gonzalez, AB da Cruz, LF Burbulla, ... Cell stem cell 19 (6), 709-724, 2016 | 437 | 2016 |
SNCA triplication Parkinson's patient's iPSC-derived DA neurons accumulate α-synuclein and are susceptible to oxidative stress B Byers, B Cord, HN Nguyen, B Schüle, L Fenno, PC Lee, K Deisseroth, ... PloS one 6 (11), e26159, 2011 | 337 | 2011 |
Clinical correlations with Lewy body pathology in LRRK2-related Parkinson disease LV Kalia, AE Lang, LN Hazrati, S Fujioka, ZK Wszolek, DW Dickson, ... JAMA neurology 72 (1), 100-105, 2015 | 324 | 2015 |
LRRK2 mutations cause mitochondrial DNA damage in iPSC-derived neural cells from Parkinson's disease patients: reversal by gene correction LH Sanders, J Laganière, O Cooper, SK Mak, BJ Vu, YA Huang, ... Neurobiology of disease 62, 381-386, 2014 | 287 | 2014 |
Alterations in the common fragile site gene Parkin in ovarian and other cancers SR Denison, F Wang, NA Becker, B Schüle, N Kock, LA Phillips, C Klein, ... Oncogene 22 (51), 8370-8378, 2003 | 259 | 2003 |
Alpha-synuclein-glucocerebrosidase interactions in pharmacological Gaucher models: a biological link between Gaucher disease and parkinsonism AB Manning-Boğ, B Schüle, JW Langston Neurotoxicology 30 (6), 1127-1132, 2009 | 224 | 2009 |
Skin punch biopsy explant culture for derivation of primary human fibroblasts M Vangipuram, D Ting, S Kim, R Diaz, B Schüle JoVE (Journal of Visualized Experiments), e3779, 2013 | 203 | 2013 |
A pathway for Parkinson’s Disease LRRK2 kinase to block primary cilia and Sonic hedgehog signaling in the brain HS Dhekne, I Yanatori, RC Gomez, F Tonelli, F Diez, B Schüle, M Steger, ... Elife 7, e40202, 2018 | 191 | 2018 |
Phenotype in parkinsonian and nonparkinsonian LRRK2 G2019S mutation carriers C Marras, B Schüle, RP Munhoz, E Rogaeva, JW Langston, M Kasten, ... Neurology 77 (4), 325-333, 2011 | 184 | 2011 |
Evidence that paternal expression of the ε-sarcoglycan gene accounts for reduced penetrance in myoclonus-dystonia B Müller, K Hedrich, N Kock, N Dragasevic, M Svetel, J Garrels, O Landt, ... The American Journal of Human Genetics 71 (6), 1303-1311, 2002 | 184 | 2002 |
LRRK2 modifies α-syn pathology and spread in mouse models and human neurons G Bieri, M Brahic, L Bousset, J Couthouis, NJ Kramer, R Ma, L Nakayama, ... Acta neuropathologica 137, 961-980, 2019 | 182 | 2019 |
Inactivating mutations in ESCO2 cause SC phocomelia and Roberts syndrome: no phenotype-genotype correlation B Schüle, A Oviedo, K Johnston, S Pai, U Francke The American Journal of Human Genetics 77 (6), 1117-1128, 2005 | 174 | 2005 |
PINK1, Parkin, and DJ-1 mutations in Italian patients with early-onset parkinsonism C Klein, A Djarmati, K Hedrich, N Schäfer, C Scaglione, R Marchese, ... European journal of human genetics 13 (9), 1086-1093, 2005 | 173 | 2005 |
Elevated α-synuclein caused by SNCA gene triplication impairs neuronal differentiation and maturation in Parkinson's patient-derived induced pluripotent stem cells LMA Oliveira, LJ Falomir-Lockhart, G Botelho, KH Lin, P Wales, JC Koch, ... Cell Death and Disease 6, e1994, 2015 | 170 | 2015 |
Penetrance estimate of LRRK2 p.G2019S mutation in individuals of non‐Ashkenazi Jewish ancestry AJ Lee, Y Wang, RN Alcalay, H Mejia‐Santana, R Saunders‐Pullman, ... Movement Disorders 32 (10), 1432-1438, 2017 | 162 | 2017 |
Parkin gene alterations in hepatocellular carcinoma F Wang, S Denison, JP Lai, LA Philips, D Montoya, N Kock, B Schüle, ... Genes, Chromosomes and Cancer 40 (2), 85-96, 2004 | 151 | 2004 |