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Birgitt Schuele
Birgitt Schuele
Associate Professor, Stanford University School of Medicine
Verified email at stanford.edu - Homepage
Title
Cited by
Cited by
Year
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
8742011
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
5112013
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
4872007
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
4262016
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
4212017
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
3322011
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
3202015
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
2822014
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
2592003
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
2222009
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
1952013
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
1862002
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
1812011
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
1762018
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
1732019
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
1722005
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
1702005
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
1612015
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
1532017
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
1502004
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