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2024
Mark Structural and Functional Characterization of the Most Frequent Pathogenic PRKN Substitution p.R275W
Bustillos, Bernardo A. ; Cocker, Liam T. ; Coban, Mathew A. ; Weber, Caleb A. ; Bredenberg, Jenny M. ; Boneski, Paige K. ; Siuda, Joanna ; Slawek, Jaroslaw ; Puschmann, Andreas ^LU and Narendra, Derek P. , et al. (2024) In Cells 13(18).
- Contribution to journal › Article
2023
Mark Substitution of PINK1 Gly411 modulates substrate receptivity and turnover
Fiesel, Fabienne C. ; Fričová, Dominika ; Hayes, Caleb S. ; Coban, Mathew A. ; Hudec, Roman ; Bredenberg, Jenny M. ; Broadway, Benjamin J. ; Markham, Briana N. ; Yan, Tingxiang and Boneski, Paige K. , et al. (2023) In Autophagy 19(6). p.1711-1732
- Contribution to journal › Article
2020
Mark Pathogenic Huntingtin Repeat Expansions in Patients with Frontotemporal Dementia and Amyotrophic Lateral Sclerosis
Dewan, Ramita ; Chia, Ruth ; Ding, Jinhui ; Hickman, Richard A. ; Stein, Thor D. ; Abramzon, Yevgeniya ; Ahmed, Sarah ; Sabir, Marya S. ; Portley, Makayla K. and Tucci, Arianna , et al. (2020) In Neuron
- Contribution to journal › Article
2019
Mark Low prevalence of known pathogenic mutations in dominant PD genes : A Swedish multicenter study
Puschmann, Andreas ^LU ; Jiménez-Ferrer, Itzia ^LU ; Lundblad-Andersson, Elin ^LU ; Mårtensson, Emma ^LU ; Hansson, Oskar ^LU ; Odin, Per ^LU ; Widner, Håkan ^LU ; Brolin, Kajsa ^LU ; Mzezewa, Ropafadzo and Kristensen, Jonas ^LU , et al. (2019) In Parkinsonism and Related Disorders 66. p.158-165
- Contribution to journal › Article
2018
Mark Investigating the genetic architecture of dementia with Lewy bodies : a two-stage genome-wide association study
Guerreiro, Rita ; Ross, Owen A. ; Kun-Rodrigues, Celia ; Hernandez, Dena G. ; Orme, Tatiana ; Eicher, John D. ; Shepherd, Claire E. ; Parkkinen, Laura ; Darwent, Lee and Heckman, Michael G. , et al. (2018) In The Lancet Neurology 17(1). p.64-74
- Contribution to journal › Article
2017
Mark Reply: Heterozygous PINK1 p.G411S in rapid eye movement sleep behaviour disorder
Puschmann, Andreas ^LU ; Fiesel, Fabienne C ; Caulfield, Thomas R ; Hudec, Roman ; Ando, Maya ; Truban, Dominika ; Hou, Xu ; Ogaki, Kotaro ; Heckman, Michael G. and James, Elle D , et al. (2017) In Brain 140(6). p.33-33
- Contribution to journal › Letter
Mark Heterozygous PINK1 p.G411S increases risk of Parkinson's disease via a dominant-negative mechanism
Puschmann, Andreas ^LU ; Fiesel, Fabienne C ; Caulfield, Thomas R ; Hudec, Roman ; Ando, Maya ; Truban, Dominika ; Hou, Xu ; Ogaki, Kotaro ; Heckman, Michael G. and James, Elle D , et al. (2017) In Brain 140(1). p.98-117
- Contribution to journal › Article
Mark Analysis of C9orf72 repeat expansions in a large international cohort of dementia with Lewy bodies
Kun-Rodrigues, Celia ; Ross, Owen A. ; Orme, Tatiana ; Shepherd, Claire ; Parkkinen, Laura ; Darwent, Lee ; Hernandez, Dena ; Ansorge, Olaf ; Clark, Lorraine N. and Honig, Lawrence S. , et al. (2017) In Neurobiology of Aging 49.
- Contribution to journal › Article
2016
Mark Autosomal dominant Parkinson's disease caused by SNCA duplications.
Konno, Takuya ; Ross, Owen A ; Puschmann, Andreas ^LU ; Dickson, Dennis W and Wszolek, Zbigniew K (2016) In Parkinsonism & Related Disorders 22(sep 3). p.1-6
- Contribution to journal › Article
Mark Genome-wide analysis of genetic correlation in dementia with Lewy bodies, Parkinson's and Alzheimer's diseases.
Guerreiro, Rita ; Escott-Price, Valentina ; Darwent, Lee ; Parkkinen, Laura ; Ansorge, Olaf ; Hernandez, Dena G ; Nalls, Michael A ; Clark, Lorraine ; Honig, Lawrence and Marder, Karen , et al. (2016) In Neurobiology of Aging 38. p.7-214
- Contribution to journal › Article

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