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Select item 103167711.

Mitochondrial DNA heteroplasmy distinguishes disease manifestation in PINK1/PRKN-linked Parkinson’s disease

Joanne Trinh, Andrew A Hicks, Inke R König, Sylvie Delcambre, Theresa Lüth, Susen Schaake, Kobi Wasner, Jenny Ghelfi, Max Borsche, Carles Vilariño-Güell, Faycel Hentati, Elisabeth L Germer, Peter Bauer, Masashi Takanashi, Vladimir Kostić, Anthony E Lang, Norbert Brüggemann, Peter P Pramstaller, Irene Pichler, Alex Rajput, Nobutaka Hattori, Matthew J Farrer, Katja Lohmann, Hansi Weissensteiner, Patrick May, Christine Klein, Anne Grünewald

Brain. 2023 Jul; 146(7): 2753–2765. Published online 2022 Dec 7. doi: 10.1093/brain/awac464

PMCID:: PMC10316771

Article PDF–648K

Select item 90705622.

Genotype–Phenotype Relations for the Atypical Parkinsonism Genes:MDSGene Systematic Review

Christina Wittke, Sonja Petkovic, Valerija Dobricic, Susen Schaake, MDS-endorsed PSP Study Group, Gesine Respondek, Anne Weissbach, Harutyun Madoev, Joanne Trinh, Eva-Juliane Vollstedt, Neele Kuhnke, Katja Lohmann, Marija Dulovic Mahlow, Connie Marras, Inke R. König, Maria Stamelou, Vincenzo Bonifati, Christina M. Lill, Meike Kasten, Hans-Jürgen Huppertz, Günter Höglinger, Christine Klein

Mov Disord. Author manuscript; available in PMC 2022 Jul 1.

Published in final edited form as: Mov Disord. 2021 Jul; 36(7): 1499–1510. Published online 2021 Mar 19. doi: 10.1002/mds.28517

PMCID:: PMC9070562

Article PDF–1.3M

Select item 89508883.

Monogenic Parkinson’s Disease: Genotype, Phenotype, Pathophysiology, and Genetic Testing

Fangzhi Jia, Avi Fellner, Kishore Raj Kumar

Genes (Basel) 2022 Mar; 13(3): 471. Published online 2022 Mar 7. doi: 10.3390/genes13030471

PMCID:: PMC8950888

Article PDF–737K

Select item 82032294.

Therapies for Genetic Forms of Parkinson’s Disease: Systematic Literature Review

Laura Over, Norbert Brüggemann, Katja Lohmann

J Neuromuscul Dis. 2021; 8(3): 341–356. Prepublished online 2021 Jan 11. Published online 2021 May 13. doi: 10.3233/JND-200598

PMCID:: PMC8203229

Article PDF–2.7M

Select item 74972895.

The Human Gene Mutation Database (HGMD^®): optimizing its use in a clinical diagnostic or research setting

Peter D. Stenson, Matthew Mort, Edward V. Ball, Molly Chapman, Katy Evans, Luisa Azevedo, Matthew Hayden, Sally Heywood, David S. Millar, Andrew D. Phillips, David N. Cooper

Hum Genet. 2020; 139(10): 1197–1207. Published online 2020 Jun 28. doi: 10.1007/s00439-020-02199-3

PMCID:: PMC7497289

Article PDF–2.5M

Select item 72361336.

Comprehensive assessment of PINK1 variants in Parkinson’s disease

Lynne Krohn, Francis P. Grenn, Mary B. Makarious, Jonggeol Jeffrey Kim, Sara Bandres-Ciga, Dorien A. Roosen, Ziv Gan-Or, Mike A. Nalls, Andrew B. Singleton, Cornelis Blauwendraat

Neurobiol Aging. Author manuscript; available in PMC 2021 Jul 1.

Published in final edited form as: Neurobiol Aging. 2020 Jul; 91: 168.e1–168.e5. Published online 2020 Mar 10. doi: 10.1016/j.neurobiolaging.2020.03.003

PMCID:: PMC7236133

Article PDF–461K

Select item 71091837.

Deep brain stimulation for monogenic Parkinson’s disease: a systematic review

Tomi Kuusimäki, Jaana Korpela, Eero Pekkonen, Mika H. Martikainen, Angelo Antonini, Valtteri Kaasinen

J Neurol. 2020; 267(4): 883–897. Published online 2019 Jan 18. doi: 10.1007/s00415-019-09181-8

PMCID:: PMC7109183

Article PDF–1003K

Select item 58080588.

LRRK2 Expression Is Deregulated in Fibroblasts and Neurons from Parkinson Patients with Mutations in PINK1

Garikoitz Azkona, Rakel López de Maturana, Patricia del Rio, Amaya Sousa, Nerea Vazquez, Amaia Zubiarrain, Daniel Jimenez-Blasco, Juan P. Bolaños, Blas Morales, Georg Auburger, José Matias Arbelo, Rosario Sánchez-Pernaute

Mol Neurobiol. 2018; 55(1): 506–516. Published online 2016 Dec 14. doi: 10.1007/s12035-016-0303-7

PMCID:: PMC5808058

Article PDF–4.8M

Select item 53798629.

Heterozygous PINK1 p.G411S increases risk of Parkinson’s disease via a dominant-negative mechanism

Andreas Puschmann, Fabienne C Fiesel, Thomas R Caulfield, Roman Hudec, Maya Ando, Dominika Truban, Xu Hou, Kotaro Ogaki, Michael G Heckman, Elle D James, Maria Swanberg, Itzia Jimenez-Ferrer, Oskar Hansson, Grzegorz Opala, Joanna Siuda, Magdalena Boczarska-Jedynak, Andrzej Friedman, Dariusz Koziorowski, Monika Rudzińska-Bar, Jan O Aasly, Timothy Lynch, George D Mellick, Megha Mohan, Peter A Silburn, Yanosh Sanotsky, Carles Vilariño-Güell, Matthew J Farrer, Li Chen, Valina L Dawson, Ted M Dawson, Zbigniew K Wszolek, Owen A Ross, Wolfdieter Springer

Brain. 2017 Jan; 140(1): 98–117. Published online 2016 Nov 2. doi: 10.1093/brain/aww261

Correction in:: Brain. 2017 Jun; 140(6): e37.

PMCID:: PMC5379862

Article PDF–1.0M

Select item 534696510.

Cardiolipin promotes electron transport between ubiquinone and complex I to rescue PINK1 deficiency

Melissa Vos, Ann Geens, Claudia Böhm, Liesbeth Deaulmerie, Jef Swerts, Matteo Rossi, Katleen Craessaerts, Elvira P. Leites, Philip Seibler, Aleksandar Rakovic, Thora Lohnau, Bart De Strooper, Sarah-Maria Fendt, Vanessa A. Morais, Christine Klein, Patrik Verstreken

J Cell Biol. 2017 Mar 6; 216(3): 695–708. doi: 10.1083/jcb.201511044

PMCID:: PMC5346965

Article PDF–2.4M

Select item 506346911.

Parkin and PINK1 Patient iPSC-Derived Midbrain Dopamine Neurons Exhibit Mitochondrial Dysfunction and α-Synuclein Accumulation

Sun Young Chung, Sarah Kishinevsky, Joseph R. Mazzulli, John Graziotto, Ana Mrejeru, Eugene V. Mosharov, Lesly Puspita, Parvin Valiulahi, David Sulzer, Teresa A. Milner, Tony Taldone, Dimitri Krainc, Lorenz Studer, Jae-won Shim

Stem Cell Reports. 2016 Oct 11; 7(4): 664–677. Published online 2016 Sep 15. doi: 10.1016/j.stemcr.2016.08.012

PMCID:: PMC5063469

Article PDF–4.3M

Select item 476499712.

The Roles of PINK1, Parkin and Mitochondrial Fidelity in Parkinson's Disease

Alicia M. Pickrell, Richard J. Youle

Neuron. Author manuscript; available in PMC 2016 Feb 24.

Published in final edited form as: Neuron. 2015 Jan 21; 85(2): 257–273. doi: 10.1016/j.neuron.2014.12.007

PMCID:: PMC4764997

Article PDF–1.6M

Select item 454475313.

Standards and Guidelines for the Interpretation of Sequence Variants: A Joint Consensus Recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology

Sue Richards, Nazneen Aziz, Sherri Bale, David Bick, Soma Das, Julie Gastier-Foster, Wayne W. Grody, Madhuri Hegde, Elaine Lyon, Elaine Spector, Karl Voelkerding, Heidi L. Rehm

Genet Med. Author manuscript; available in PMC 2015 Nov 1.

Published in final edited form as: Genet Med. 2015 May; 17(5): 405–424. Published online 2015 Mar 5. doi: 10.1038/gim.2015.30

PMCID:: PMC4544753

Article PDF–960K

Select item 402228414.

PINK1 heterozygous mutations induce subtle alterations in dopamine-dependent synaptic plasticity

G. Madeo, T. Schirinzi, G. Martella, E.C. Latagliata, F. Puglisi, J. Shen, E.M. Valente, M. Federici, N.B. Mercuri, S. Puglisi-Allegra, P. Bonsi, A. Pisani

Mov Disord. Author manuscript; available in PMC 2015 Jan 1.

Published in final edited form as: Mov Disord. 2014 Jan; 29(1): 41–53. Published online 2013 Oct 25. doi: 10.1002/mds.25724

PMCID:: PMC4022284

Article PDF–1.3M

Select item 372062215.

Dopaminergic Neuronal Imaging in Genetic Parkinson's Disease: Insights into Pathogenesis

Alisdair McNeill, Ruey-Meei Wu, Kai-Yuan Tzen, Patricia C. Aguiar, Jose M. Arbelo, Paolo Barone, Kailash Bhatia, Orlando Barsottini, Vincenzo Bonifati, Sevasti Bostantjopoulou, Rodrigo Bressan, Giovanni Cossu, Pietro Cortelli, Andre Felicio, Henrique B. Ferraz, Joanna Herrera, Henry Houlden, Marcelo Hoexter, Concepcion Isla, Andrew Lees, Oswaldo Lorenzo-Betancor, Niccolo E. Mencacci, Pau Pastor, Sabina Pappata, Maria Teresa Pellecchia, Laura Silveria-Moriyama, Andrea Varrone, Tom Foltynie, Anthony H. V. Schapira

PLoS One. 2013; 8(7): e69190. Published online 2013 Jul 23. doi: 10.1371/journal.pone.0069190