Ident. | Authors (with country if any) | Title |
---|
000190 (2011) |
Fernando Cardona [Espagne] ; Jose Vicente Sánchez-Mut [Espagne] ; Hernán Dopazo [Espagne] ; Jordi Pérez-Tur [Espagne] | Phylogenetic and in silico structural analysis of the Parkinson disease‐related kinase PINK1 |
000212 (2011) |
Farzaneh Ghazavi [Iran] ; Zeinab Fazlali [Iran] ; Setareh Sadat Banihosseini [Iran] ; Sayed-Rzgar Hosseini [Iran] ; Mohammad Hossein Kazemi [Iran] ; Seyedmehdi Shojaee [Iran] ; Khosro Parsa [Iran] ; Homa Sadeghi [Iran] ; Farzad Sina [Iran] ; Mohammad Rohani [Iran] ; Gholam-Ali Shahidi [Iran] ; Nasser Ghaemi [Iran] ; Mostafa Ronaghi [États-Unis] ; Elahe Elahi [Iran] | PRKN, DJ‐1, and PINK1 screening identifies novel splice site mutation in PRKN and two novel DJ‐1 mutations |
000609 (2010) |
Sven Geisler [Allemagne] ; Kira M. Holmstrm [Allemagne] ; Diana Skujat [Allemagne] ; Fabienne C. Fiesel [Allemagne] ; Oliver C. Rothfuss [Allemagne] ; Philipp J. Kahle [Allemagne] ; Wolfdieter Springer [Allemagne] | PINK1/Parkin-mediated mitophagy is dependent on VDAC1 and p62/SQSTM1 |
000669 (2010) |
Frits Kamp [Allemagne] ; Nicole Exner [Allemagne] ; Anne Kathrin Lutz [Allemagne] ; Nora Wender [Allemagne] ; Jan Hegermann [Allemagne] ; Bettina Brunner [Allemagne] ; Brigitte Nuscher [Allemagne] ; Tim Bartels [Allemagne] ; Armin Giese [Allemagne] ; Klaus Beyer [Allemagne, États-Unis] ; Stefan Eimer [Allemagne] ; Konstanze F. Winklhofer [Allemagne] ; Christian Haass [Allemagne] | Inhibition of mitochondrial fusion by α‐synuclein is rescued by PINK1, Parkin and DJ‐1 |
000704 (2010) |
Karen Nuytemans [Belgique] ; Jessie Theuns [Belgique] ; Marc Cruts [Belgique] ; Christine Van Broeckhoven [Belgique] | Genetic etiology of Parkinson disease associated with mutations in the SNCA, PARK2, PINK1, PARK7, and LRRK2 genes: a mutation update |
000762 (2010) |
Mark R. Cookson [États-Unis] | DJ‐1, PINK1, and their effects on mitochondrial pathways |
000957 (2009) |
J. Gierthmühlen [Allemagne] ; F. Lienau [Allemagne] ; R. Maag [Allemagne] ; J M Hagenah [Allemagne] ; G. Deuschl [Allemagne] ; E. Fritzer [Allemagne] ; C. Klein [Allemagne] ; R. Baron [Allemagne] ; C. Helmchen [Allemagne] | Somatosensory processing in a German family with PINK1 mutations: its potential role in Parkinson disease |
000A06 (2009) |
J. Brooks [États-Unis] ; J. Ding [États-Unis] ; J. Simon-Sanchez [États-Unis] ; C. Paisan-Ruiz [Royaume-Uni] ; A B Singleton [États-Unis] ; S W Scholz [États-Unis, Royaume-Uni] | Parkin and PINK1 mutations in early-onset Parkinson’s disease: comprehensive screening in publicly available cases and control |
000A08 (2009) |
Clecio Godeiro-Junior [Brésil] ; Patricia M. De Carvalho-Aguiar [Brésil] ; Andre C. Felício [Brésil] ; Orlando G. P. Barsottini [Brésil] ; Sonia M. A. Silva [Brésil] ; Vanderci Borges [Brésil] ; Luiz Augusto F. Andrade [Brésil] ; Henrique Ballalai Ferraz [Brésil] | PINK1 mutations in a Brazilian cohort of early‐onset Parkinson's disease patients |
000A12 (2009) |
Alessandro Ferraris [Italie] ; Tamara Ialongo [Italie] ; Giulio Cesare Passali [Italie] ; Maria Teresa Pellecchia [Italie] ; Livia Brusa [Italie] ; Marianna Laruffa [Italie] ; Arianna Guidubaldi [Italie] ; Gaetano Paludetti [Italie] ; Alberto Albanese [Italie] ; Paolo Barone [Italie] ; Bruno Dallapiccola [Italie] ; Enza Maria Valente [Italie] ; Anna Rita Bentivoglio [Italie] | Olfactory dysfunction in Parkinsonism caused by PINK1 mutations |
000A86 (2009) |
Sarah Teixeira Camargos [Brésil] ; Leonardo Oliveira Dornas [Brésil] ; Parastoo Momeni [États-Unis] ; Andrew Lees (neurologue) [Royaume-Uni] ; John Hardy [Royaume-Uni] ; Andrew Singleton [États-Unis] ; Francisco Cardoso [Brésil] | Familial Parkinsonism and early onset Parkinson's disease in a Brazilian movement disorders clinic: Phenotypic characterization and frequency of SNCA, PRKN, PINK1, and LRRK2 mutations |
000B40 (2009) |
Eng-King Tan [Singapour] ; F. Shaffra Refai [Singapour] ; Mobin Siddique [Singapour] ; Karen Yap [Singapour] ; Patrick Ho [Singapour] ; Stephanie Fook-Chong [Singapour] ; Yi Zhao [Singapour] | Clinically reported heterozygous mutations in the PINK1 kinase domain exert a gene dosage effect |
000C22 (2008) |
Helene Plun-Favreau [Royaume-Uni] ; Sonia Gandhi [Royaume-Uni] ; Alison Wood-Kaczmar [Royaume-Uni] ; Emma Deas [Royaume-Uni] ; Zhi Yao [Royaume-Uni] ; Nicholas W. Wood [Royaume-Uni] | What Have PINK1 and HtrA2 Genes Told Us about the Role of Mitochondria in Parkinson's Disease? |
000D20 (2008) |
Roberta Marongiu [Italie] ; Alessandro Ferraris [Italie] ; Tàmara Ialongo [Italie] ; Silvia Michiorri [Italie] ; Francesco Soleti [Italie] ; Francesca Ferrari [Italie] ; Antonio E. Elia [Italie] ; Daniele Ghezzi [Italie] ; Alberto Albanese [Italie] ; Maria Concetta Altavista [Italie] ; Angelo Antonini [Italie] ; Paolo Barone [Italie] ; Livia Brusa [Italie] ; Pietro Cortelli [Italie] ; Paolo Martinelli [Italie] ; Maria Teresa Pellecchia [Italie] ; Gianni Pezzoli [Italie] ; Cesa Scaglione [Italie] ; Paolo Stanzione [Italie] ; Michele Tinazzi [Italie] ; Anna Zecchinelli [Italie] ; Massimo Zeviani [Italie] ; Emanuele Cassetta [Italie] ; Barbara Garavaglia [Italie] ; Bruno Dallapiccola [Italie] ; Anna Rita Bentivoglio [Italie] ; Enza Maria Valente [Italie] | PINK1 heterozygous rare variants: prevalence, significance and phenotypic spectrum |
000D64 (2008) |
Vania Gelmetti [Italie] ; Alessandro Ferraris [Italie] ; Livia Brusa [Italie] ; Francesca Romano [Italie] ; Federica Lombardi [Italie] ; Chiara Barzaghi [Italie] ; Paolo Stanzione [Italie] ; Barbara Garavaglia [Italie] ; Bruno Dallapiccola [Italie] ; Enza Maria Valente [Italie] | Late onset sporadic Parkinson's disease caused by PINK1 mutations: Clinical and functional study |
000F13 (2007) |
Roberta Marongiu [Italie] ; Francesco Brancati [Italie] ; Angelo Antonini [Italie] ; Tamara Ialongo [Italie] ; Caterina Ceccarini [Italie] ; Oronzo Scarciolla [Italie] ; Anna Capalbo [Italie] ; Riccardo Benti [Italie] ; Gianni Pezzoli [Italie] ; Bruno Dallapiccola [Italie] ; Stefano Goldwurm [Italie] ; Enza Maria Valente [Italie] | Whole gene deletion and splicing mutations expand the PINK1 genotypic spectrum |
000F36 (2007) |
Hlne Plun-Favreau [Royaume-Uni] ; Kristina Klupsch [Royaume-Uni] ; Nicoleta Moisoi [Royaume-Uni] ; Sonia Gandhi [Royaume-Uni] ; Svend Kjaer [Royaume-Uni] ; David Frith [Royaume-Uni] ; Kirsten Harvey [Royaume-Uni] ; Emma Deas [Royaume-Uni] ; Robert J. Harvey [Royaume-Uni] ; Neil Mcdonald [Royaume-Uni] ; Nicholas W. Wood [Royaume-Uni] ; L. Miguel Martins [Royaume-Uni] ; Julian Downward [Royaume-Uni] | The mitochondrial protease HtrA2 is regulated by Parkinson's disease-associated kinase PINK1 |
000F95 (2007) |
M. Toft [Norvège] ; R. Myhre [Norvège] ; L. Pielsticker [États-Unis] ; L R White [Norvège] ; J O Aasly [Norvège] ; M J Farrer [États-Unis] | PINK1 mutation heterozygosity and the risk of Parkinson’s disease |
001244 (2006) |
Eng-King Tan [Singapour] ; Kenneth Yew [Singapour] ; Eva Chua [Singapour] ; K. Puvan [Singapour] ; Hui Shen [Singapour] ; Esther Lee [Singapour] ; Kim-Yoong Puong [Singapour] ; Yi Zhao [Singapour] ; Ratnagopal Pavanni [Singapour] ; Meng-Cheong Wong [Singapour] ; Dominic Jamora [Singapour] ; Deidre De Silva [Singapour] ; Kyaw-Thu Moe [Singapour] ; Fung-Peng Woon [Singapour] ; Yih Yuen [Singapour] ; Louis Tan [Singapour] | PINK1 mutations in sporadic early‐onset Parkinson's disease |
001257 (2006) |
Pablo Iba N Ez ; Suzanne Lesage ; Ebba Lohmann ; Ste Phane Thobois ; Giuseppe De Michele [Italie] ; Michel Borg ; Yves Agid [France] ; Alexandra Du Rr ; Alexis Brice | Mutational analysis of the PINK1 gene in early-onset parkinsonism in Europe and North Africa |
001355 (2006) |
Beisha Tang ; Hui Xiong [États-Unis] ; Ping Sun [États-Unis] ; Yuhu Zhang ; Danling Wang [États-Unis] ; Zhengmao Hu ; Zanhua Zhu ; Hong Ma [États-Unis] ; Qian Pan ; Jia-Hui Xia ; Kun Xia ; Zhuohua Zhang [États-Unis] | Association of PINK1 and DJ-1 confers digenic inheritance of early-onset Parkinson's disease |