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E. Sammler · SciRah

Researcher profile · Semantic Scholar

E. Sammler

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E. Sammler — researcher profile on SciRah

h-index: 17
Works: 60
Citations: 1,618

Most-cited papers

LRRK2 kinase in Parkinson's disease
D. Alessi, E. Sammler
2018Science292 citations Open access
Semantic Scholar
The Parkinson's disease VPS35[D620N] mutation enhances LRRK2-mediated Rab protein phosphorylation in mouse and human
Rafeeq Mir, F. Tonelli, P. Lis, Thomas J. Macartney +11 more
2018Biochemical Journal167 citations Open access
Semantic Scholar
Discovery of XL01126: A Potent, Fast, Cooperative, Selective, Orally Bioavailable, and Blood–Brain Barrier Penetrant PROTAC Degrader of Leucine-Rich Repeat Kinase 2
Xin-Gui Liu, Alexia F Kalogeropulou, Sofia Domingos, N. Makukhin +9 more
2022Journal of the American Chemical Society149 citations Open access
Semantic Scholar
Interrogating Parkinson's disease LRRK2 kinase pathway activity by assessing Rab10 phosphorylation in human neutrophils
Ying Fan, Andrew J. M. Howden, Adil R. Sarhan, P. Lis +6 more
2017Biochemical Journal148 citations Open access
Semantic Scholar
Impact of 100 LRRK2 variants linked to Parkinson's disease on kinase activity and microtubule binding
Alexia F Kalogeropulou, E. Purlyte, F. Tonelli, S. Lange +5 more
2022bioRxiv112 citations Open access
Semantic Scholar
Relevance of genetic testing in the gene-targeted trial era: the Rostock Parkinson’s disease study
A. Westenberger, V. Skrahina, T. Usnich, C. Beetz +155 more
2024Brain : a journal of neurology98 citations Open access
Semantic Scholar
A blood-based marker of mitochondrial DNA damage in Parkinson’s disease
Rui Qi, E. Sammler, Claudia P. Gonzalez-Hunt, Ivana Barraza +25 more
2023Science Translational Medicine75 citations Open access
Semantic Scholar
Uncovering the genetic basis of Parkinson's disease globally: from discoveries to the clinic.
Shen-Yang Lim, A. Tan, A. Ahmad-Annuar, N. Okubadejo +17 more
2024Lancet Neurology64 citations Open access
Semantic Scholar
R1441G but not G2019S mutation enhances LRRK2 mediated Rab10 phosphorylation in human peripheral blood neutrophils
Ying Fan, R. Nirujogi, Alicia Garrido, J. Ruiz-Martínez +21 more
2021Acta Neuropathologica64 citations Open access
Semantic Scholar
Development of a multiplexed targeted mass spectrometry assay for LRRK2-phosphorylated Rabs and Ser910/Ser935 biomarker sites
R. Nirujogi, F. Tonelli, Matthew Taylor, P. Lis +3 more
2020bioRxiv53 citations Open access
Semantic Scholar
Comprehensive short and long read sequencing analysis for the Gaucher and Parkinson’s disease-associated GBA gene
M. Toffoli, Xiao Chen, F. Sedlazeck, Chiao Lee +9 more
2022Communications Biology52 citations Open access
Semantic Scholar
Embracing Monogenic Parkinson's Disease: The MJFF Global Genetic PD Cohort
Eva-Juliane Vollstedt, S. Schaake, K. Lohmann, S. Padmanabhan +130 more
2023Movement Disorders44 citations Open access
Semantic Scholar
Accurate MS-based Rab10 phosphorylation stoichiometry determination as readout for LRRK2 activity in Parkinson’s disease
Özge Karayel, F. Tonelli, S. V. Winter, P. Geyer +5 more
2019bioRxiv38 citations Open access
Semantic Scholar
Towards a multi-arm multi-stage platform trial of disease modifying approaches in Parkinson’s disease
T. Foltynie, Sonia Gandhi, C. Gonzalez-Robles, M. Zeissler +84 more
2023Brain : a journal of neurology33 citations Open access
Semantic Scholar
Elevated urine BMP phospholipids in LRRK2 and VPS35 mutation carriers with and without Parkinson’s disease
S. Gomes, Alicia Garrido, F. Tonelli, D. Obiang +18 more
2023npj Parkinson's Disease27 citations Open access
Semantic Scholar
LRP10 interacts with SORL1 in the intracellular vesicle trafficking pathway in non-neuronal brain cells and localises to Lewy bodies in Parkinson’s disease and dementia with Lewy bodies
Martyna M. Grochowska, Ana Carreras Mascaro, Valerie Boumeester, Domenico Natale +12 more
2021Acta Neuropathologica20 citations Open access
Semantic Scholar
Accurate MS-based Rab10 Phosphorylation Stoichiometry Determination as Readout for LRRK2 Activity in Parkinson's Disease
Özge Karayel, F. Tonelli, Sebastian Virreira Winter, P. Geyer +5 more
2020Molecular & Cellular Proteomics17 citations Open access
Semantic Scholar
Tagless LysoIP for immunoaffinity enrichment of native lysosomes from clinical samples
Daniel Saarela, P. Lis, Sara Gomes, R. Nirujogi +22 more
2024Journal of Clinical Investigation15 citations Open access
Semantic Scholar
Molecular mechanisms defining penetrance of LRRK2-associated Parkinson’s disease
J. Trinh, E. Schymanski, Semra Smajić, M. Kasten +2 more
2022Medizinische Genetik14 citations Open access
Semantic Scholar
Clinical and functional evidence for the pathogenicity of the LRRK2 p.Arg1067Gln variant
Shen-Yang Lim, T. S. Toh, J. Hor, Jia-Lun Lim +23 more
2025npj Parkinson's Disease13 citations Open access
Semantic Scholar
The R1441C-Lrrk2 mutation induces myeloid immune cell exhaustion in an age- and sex-dependent manner in mice
R. Wallings, Karen N. McFarland, Hannah A. Staley, Noelle K. Neighbarger +7 more
2024Science Translational Medicine13 citations Open access
Semantic Scholar
Treatment Selection and Prioritization for the EJS ACT‐PD MAMS Trial Platform
C. Gonzalez-Robles, D. Athauda, Tom Barber, R. A. Barker +25 more
2025Movement Disorders11 citations Open access
Semantic Scholar
LRRK2 p.G2385R and p.R1628P variants in a multi-ethnic Asian Parkinson’s Cohort: epidemiology and clinical insights
Jun-Wen Goh, Jia-Lun Lim, T. S. Toh, Yan-Ong Rui +28 more
2025npj Parkinson's Disease11 citations Open access
Semantic Scholar
Human Peripheral Blood Neutrophil Isolation for Interrogating the Parkinson's Associated LRRK2 Kinase Pathway by Assessing Rab10 Phosphorylation.
Ying Fan, F. Tonelli, S. Padmanabhan, M. Baptista +6 more
2020Journal of Visualized Experiments11 citations Open access
Semantic Scholar
The New p.F1700L LRRK2 Variant Causes Parkinson's Disease by Extensively Increasing Kinase Activity
M. Borsche, Neringa Pratuseviciute, S. Schaake, F. Hinrichs +7 more
2023Movement Disorders10 citations Open access
Semantic Scholar
LIPAD (LRRK2/Luebeck International Parkinson's Disease) Study Protocol: Deep Phenotyping of an International Genetic Cohort
T. Usnich, Eva-Juliane Vollstedt, Nathalie Schell, V. Skrahina +31 more
2021Frontiers in Neurology8 citations Open access
Semantic Scholar
Tagless LysoIP method for molecular profiling of lysosomal content in clinical samples
Daniel Saarela, P. Lis, Sara Gomes, R. Nirujogi +22 more
2024bioRxiv7 citations Open access
Semantic Scholar
Establishing an online resource to facilitate global collaboration and inclusion of underrepresented populations: Experience from the MJFF Global Genetic Parkinson’s Disease Project
Eva-Juliane Vollstedt, H. Madoev, Anna Aasly, A. Ahmad-Annuar +79 more
2023PLoS ONE7 citations Open access
Semantic Scholar
Comprehensive genetic screening of early-onset dementia patients in an Austrian cohort-suggesting new disease-contributing genes
S. Silvaieh, T. König, R. Wurm, T. Parvizi +8 more
2023Human Genomics6 citations Open access
Semantic Scholar
Accurate MS-based Rab10 Phosphorylation Stoichiometry Determination as Readout for LRRK2 Activity in Parkinson's Disease.
Özge Karayel, F. Tonelli, Sebastian Virreira Winter, P. Geyer +5 more
2020Molecular & Cellular Proteomics6 citations Open access
Semantic Scholar
Inflammation and IL-4 regulate Parkinson’s and Crohn’s disease associated kinase LRRK2
Dina Dikovskaya, Rebecca Pemberton, Matthew Taylor, Anna Tasegian +6 more
2025EMBO Reports5 citations Open access
Semantic Scholar
PPM1M, an LRRK2-counteracting, phosphoRab12-preferring phosphatase with a potential link to Parkinson’s disease
C. A. Chiang, Neringa Pratuseviciute, Yu-En Lin, Ayan Adhikari +20 more
2025Cell Reports5 citations Open access
Semantic Scholar
A mitochondrial blood-based patient stratification candidate biomarker for Parkinson’s disease
Rui Qi, E. Sammler, Claudia P. Gonzalez-Hunt, Nicholas Pena +11 more
2022bioRxiv4 citations Open access
Semantic Scholar
Comprehensive analysis of GBA using a novel algorithm for Illumina whole-genome sequence data or targeted Nanopore sequencing
M. Toffoli, Xiao Chen, F. Sedlazeck, Chiao Lee +9 more
2021medRxiv4 citations Open access
Semantic Scholar
Ex Vivo LRRK2 Activation in Asian G2385R and R1628P Variant Carriers and Idiopathic Parkinson's Disease
T. S. Toh, Cheng-Lit Lei, Shen-Yang Lim, J. Hor +14 more
2026Movement Disorders3 citations Open access
Semantic Scholar
Addressing the Challenges of Translating LRRK2 Biology into Disease‐Modifying Therapies: The LRRK2 Investigative Therapeutics Exchange Initiative
E. Sammler, F. Tonelli, Michelle Durborow, Jim McNasby +9 more
2026Movement Disorders3 citations Open access
Semantic Scholar
A Functional Genetic Atlas of Parkin Resolves Variants of Uncertain Significance and Predicts Parkinson’s Disease Age at Onset
Vahid Aslanzadeh, S. Glendinning, Yustika Sari, Marguerite J Clarke +14 more
2026bioRxiv3 citations Open access
Semantic Scholar
Robust analytical methods for bis(monoacylglycero)phosphate profiling in health and disease.
Wen-Tao Dong, K. Nyame, E. Rawat, Uche N. Medoh +10 more
2026Nature Protocols2 citations Open access
Semantic Scholar
The R1441C-LRRK2 mutation induces myeloid immune cell exhaustion in an age- and sex-dependent manner
R. Wallings, Karen N McFarland, Hannah A. Staley, Noelle K. Neighbarger +7 more
2023bioRxiv2 citations Open access
Semantic Scholar
Lack of Cerebrospinal Fluid α‐Synuclein Seeding in VPS35 D620N‐ and LRRK2 Y1699C‐Linked Parkinson's Disease
Letizia Santinelli, Neringa Pratuseviciute, L. Lange, T. Kleinz +15 more
2026Movement Disorders1 citations Open access
Semantic Scholar
Robust analytical methods for bis(monoacylglycero)phosphate profiling in health and disease
Wen-Tao Dong, K. Nyame, E. Rawat, Uche N. Medoh +10 more
2025bioRxiv1 citations Open access
Semantic Scholar
Biomarkers of LRRK2 and lysosomal dysfunction in Progressive Supranuclear Palsy
Louise-Kristine Nielsen, J. L. Frost, D. Vaughan, R. Real +24 more
2025medRxiv1 citations
Semantic Scholar
Precision Stratification: Kinase Assay in Asian LRRK2 Risk Carriers and Idiopathic Parkinson Disease
T. S. Toh, L. Lit, S.-Y. Lim, J. Hor +14 more
2025medRxiv1 citations Open access
Semantic Scholar
PPM1M, a LRRK2-counteracting, phosphoRab12-preferring phosphatase with potential link to Parkinson’s disease
C. A. Chiang, Neringa Pratuseviciute, Yu-En Lin, Ayan Adhikari +19 more
2025bioRxiv1 citations Open access
Semantic Scholar
Regulation of Leucine-Rich Repeat Kinase 2 by inflammation and IL-4
Dina Dikovskaya, Rebecca Pemberton, Matthew Taylor, Anna Tasegian +5 more
2024bioRxiv1 citations Open access
Semantic Scholar
Correction: Comprehensive genetic screening of early-onset dementia patients in an Austrian cohort-suggesting new disease-contributing genes
S. Silvaieh, T. König, R. Wurm, T. Parvizi +8 more
2023Human Genomics1 citations Open access
Semantic Scholar
Elevated urine BMPs - bis(Monoacylglycerol)Phosphates – in LRRK2 G2019S, R1441G/C and VPS35 D620N mutation carriers with and without Parkinson’s disease
Sara C. Gomes, Alicia Garrido, F. Tonelli, D. Obiang +20 more
20221 citations
Semantic Scholar
Frequency of non-motor symptoms in Parkinson's disease patients carrying the E326K and T369M GBA risk variants.
T. Usnich, Maria Olmedillas, Nathalie Schell, J. J. Paul +17 more
2022Parkinsonism & Related Disorders1 citations
Semantic Scholar
Dundee Research Interest Group (DRIG) 2026 Open Doors Day Event Report
Sarah Patrick, B. Hawdon, Jo Goodburn, E. Sammler +13 more
20260 citations Open access
Semantic Scholar
Large-scale functional annotation establishes a reference framework for human LRRK2 variants
Anthea Cheung, Neringa Pratuseviciute, K. Black, P. Lis +23 more
2026medRxiv0 citations Open access
Semantic Scholar

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