Zobrazeno 1 - 10
of 214
pro vyhledávání: '"Jan O, Aasly"'
Autor:
Carolin Gabbert, Susen Schaake, Theresa Lüth, Christoph Much, Christine Klein, Jan O. Aasly, Matthew J. Farrer, Joanne Trinh
Publikováno v:
BMC Genomics, Vol 24, Iss 1, Pp 1-8 (2023)
Abstract Background GBA1 variants are the strongest genetic risk factor for Parkinson’s disease (PD). However, the pathogenicity of GBA1 variants concerning PD is still not fully understood. Additionally, the frequency of GBA1 variants varies widel
Externí odkaz:
https://doaj.org/article/66c0687e8cf4413393014cc3043ff3b4
Publikováno v:
Journal of Movement Disorders, Vol 14, Iss 3, Pp 214-220 (2021)
Objective Few studies have followed Parkinson’s disease (PD) patients from the time of diagnosis to the date of death. This study compared mortality in the Trondheim PD cohort to the general population, investigated causes of death and analyzed the
Externí odkaz:
https://doaj.org/article/f8ef12484ad742058355fe23e986ef72
Autor:
Nour K. Majbour, Jan O. Aasly, Eldbjørg Hustad, Mercy A. Thomas, Nishant N. Vaikath, Naser Elkum, Wilma D. J. van de Berg, Takahiko Tokuda, Brit Mollenhauer, Henk W. Berendse, Omar M. A. El-Agnaf
Publikováno v:
Translational Neurodegeneration, Vol 9, Iss 1, Pp 1-10 (2020)
Abstract Background Asymptomatic carriers of leucine-rich repeat kinase 2 (LRRK2) gene mutations constitute an ideal population for discovering prodromal biomarkers of Parkinson’s disease (PD). In this study, we aim to identify CSF candidate risk b
Externí odkaz:
https://doaj.org/article/ee5ec5df964e4d5e95f941a5372ac1af
Autor:
Jan O. Aasly
Publikováno v:
Journal of Movement Disorders, Vol 13, Iss 2, Pp 81-96 (2020)
Parkinson’s disease (PD) is a progressive neurodegenerative disorder that affects 1–2% of people by the age of 70 years. Age is the most important risk factor, and most cases are sporadic without any known environmental or genetic causes. Since t
Externí odkaz:
https://doaj.org/article/60d50397e98d497fbc4c674a9ac79d94
Autor:
Jan O. Aasly
Publikováno v:
Frontiers in Neuroscience, Vol 15 (2021)
The first families with LRRK2 related Parkinson’s disease (PD) were presented around 15 years ago and numerous papers have described the characteristics of the LRRK2 phenotype. The prevalence of autosomal dominant PD varies around the world mainly
Externí odkaz:
https://doaj.org/article/43882ce9cb6c40d7afdc57239ff5456b
Autor:
Anna Aasly, Jan O. Aasly
Publikováno v:
Behavioural Neurology, Vol 2021 (2021)
Parkinson’s disease (PD) patients may have a specific personality profile, which includes being introvert, cautious and devoted to hard work. The evaluation of psychological characteristics must be evaluated according to methods for assessments of
Externí odkaz:
https://doaj.org/article/b5377e5af39b4a73bca049541b6cc950
Autor:
Sylvie Delcambre, Jenny Ghelfi, Nassima Ouzren, Léa Grandmougin, Catherine Delbrouck, Philip Seibler, Kobi Wasner, Jan O. Aasly, Christine Klein, Joanne Trinh, Sandro L. Pereira, Anne Grünewald
Publikováno v:
Frontiers in Neurology, Vol 11 (2020)
Several mutations in leucine-rich repeat kinase-2 (LRRK2) have been associated with Parkinson's disease (PD). The most common substitution, G2019S, interferes with LRRK2 kinase activity, which is regulated by autophosphorylation. Yet, the penetrance
Externí odkaz:
https://doaj.org/article/1ebd40586a1b4db891732da8ccc4aff2
Autor:
Eldbjørg Hustad, Jan O. Aasly
Publikováno v:
Frontiers in Neurology, Vol 11 (2020)
The diagnosis of Parkinson's disease (PD) relies on the clinical effects of dopamine deficiency, including bradykinesia, rigidity and tremor, usually manifesting asymmetrically. Misdiagnosis is common, due to overlap of symptoms with other neurodegen
Externí odkaz:
https://doaj.org/article/50824f01d22c4b2bb54d6e42ea6bc5bd
Autor:
Carolin Gabbert, Susen Schaake, Theresa Lüth, Christoph Much, Christine Klein, Jan O. Aasly, Matthew J. Farrer, Joanne Trinh
BackgroundGBAvariants are the strongest genetic risk factor for Parkinson’s disease (PD). However, the pathogenicity ofGBAvariants concerning PD is still not fully understood. Additionally, the frequency ofGBAvariants varies widely across populatio
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::8aa24a9003be808eba99124020944433
https://doi.org/10.1101/2023.02.03.23285410
https://doi.org/10.1101/2023.02.03.23285410
Autor:
Athina Simitsi, Grazia Annesi, Hirotaka Matsuo, Leonor Correia Guedes, Mario Ezquerra, Kenya Nishioka, Ashwin Ashok Kumar Sreelatha, Simona Petrucci, Dimitri Krainc, Angela Deutschländer, Ekaterina Rogaeva, Lasse Pihlstrøm, Manu Sharma, Thomas Gasser, Mathias Toft, Jan O. Aasly, Cloé Domenighetti, Monica Diez-Fairen, Milena Radivojkov-Blagojevic, Sandeep Grover, Andrew B. Singleton, Bart P.C. van de Warrenburg, Yun Joong Kim, Andrea Quattrone, Sun Ju Chung, Gianni Pezzoli, Pierre-Emmanuel Sugier, Sulev Kõks, Lena F. Burbulla, Jonathan Carr, Walter Pirker, Efthimos Dardiotis, Karin Wirdefeldt, George D. Mellick, Jean-Christophe Corvol, Dheeraj Reddy Bobbili, Anthony E. Lang, Eugénie Mutez, Georges M. Hadjigeorgiou, Anna Zecchinelli, Laura Brighina, Connor Edsall, Océane Mohamed, Berta Portugal, Andreas Puschmann, Nancy L. Pedersen, Alexander Zimprich, Patrick May, Matthew J. Farrer, Leonidas Stefanis, Yusuke Kawamura, Eduardo Tolosa, Claudia Schulte, Alexis Brice, Caroline Ran, Manuela Tan, Pille Taba, Peter Lichtner, Alexis Elbaz, Dena G. Hernandez, Monica Gagliardi, Andrea Carmine Belin, Joaquim J. Ferreira, Suzanne Lesage, Pierre Kolber, Kathrin Brockmann, Marie-Christine Chartier-Harlin, Carl E Clarke, Karen E. Morrison, Nobutaka Hattori, Stefano Duga, Letizia Straniero, Rejko Krüger, Carlo Ferrarese, Pau Pastor, Soraya Bardien, Clara Hellberg, Bastiaan R. Bloem, Enza Maria Valente
Publikováno v:
J Parkinsons Dis
Journal of Parkinson's Disease, 12, 267-282
Journal of Parkinson's Disease, 12, 1, pp. 267-282
Comprehensive Unbiaised Risk Factor Assessment for Genetics and Environment in Parkinson’s Disease (COURAGE-PD) consortium 2021, ' Mendelian Randomisation Study of Smoking, Alcohol, and Coffee Drinking in Relation to Parkinson's Disease ', Journal of Parkinson's disease . https://doi.org/10.3233/JPD-212851
Journal of Parkinson's Disease 12(1), 267-282 (2022). doi:10.3233/JPD-212851
Journal of Parkinson's disease
12 (2022): 267–282. doi:10.3233/JPD-212851
info:cnr-pdr/source/autori:Cloé Domenighetti; Pierre-Emmanuel Sugier; Ashwin Ashok Kumar Sreelatha; Claudia Schulte; Sandeep Grover; Océane Mohamed; Berta Portugal; Patrick May; Dheeraj R Bobbili; Milena Radivojkov-Blagojevic; Peter Lichtner; Andrew B Singleto; Dena G Hernandez; Connor Edsall; George D Mellick; Alexander Zimprich; Walter Pirker; Ekaterina Rogaeva; Anthony E Lang; Sulev Koks; Pille Taba; Suzanne Lesage; Alexis Brice; Jean-Christophe Corvol; Marie-Christine Chartier-Harlin; Eugénie Mutez; Kathrin Brockmann; Angela B Deutschländer; Georges M Hadjigeorgiou; Efthimos Dardiotis; Leonidas Stefanis; Athina Maria Simitsi; Enza Maria Valente; Simona Petrucci; Stefano Duga; Letizia Straniero; Anna Zecchinelli; Gianni Pezzoli; Laura Brighina; Carlo Ferrarese; Grazia Annesi; Andrea Quattrone; Monica Gagliardi; Hirotaka Matsuo; Yusuke Kawamura; Nobutaka Hattori; Kenya Nishioka; Sun Ju Chung; Yun Joong Kim; Pierre Kolber; Bart Pc van de Warrenburg; Bastiaan R Bloem; Jan Aasly; Mathias Toft; Lasse Pihlstrøm; Leonor Correia Guedes; Joaquim J Ferreira; Soraya Bardien; Jonathan Carr: Eduardo Tolosa; Mario Ezquerra; Pau Pastor; Monica Diez-Fairen; Karin Wirdefeldt; Nancy L Pedersen; Caroline Ran; Andrea C Belin; Andreas Puschmann; Clara Hellberg; Carl E Clarke; Karen E Morrison; Manuela Tan; Dimitri Krainc; Lena F Burbulla; Matt J Farrer; Rejko Krüger; Thomas Gasser; Manu Sharma; Alexis Elbaz; Comprehensive Unbiaised Risk Factor Assessment for Genetics and Environment in Parkinson's Disease (Courage-PD) consortium./titolo:Mendelian Randomisation Study of Smoking, Alcohol, and Coffee Drinking in Relation to Parkinson's Disease/doi:10.3233%2FJPD-212851/rivista:Journal of Parkinson's disease (Print)/anno:2022/pagina_da:267/pagina_a:282/intervallo_pagine:267–282/volume:12
Journal of Parkinson's Disease, 12, 267-282
Journal of Parkinson's Disease, 12, 1, pp. 267-282
Comprehensive Unbiaised Risk Factor Assessment for Genetics and Environment in Parkinson’s Disease (COURAGE-PD) consortium 2021, ' Mendelian Randomisation Study of Smoking, Alcohol, and Coffee Drinking in Relation to Parkinson's Disease ', Journal of Parkinson's disease . https://doi.org/10.3233/JPD-212851
Journal of Parkinson's Disease 12(1), 267-282 (2022). doi:10.3233/JPD-212851
Journal of Parkinson's disease
12 (2022): 267–282. doi:10.3233/JPD-212851
info:cnr-pdr/source/autori:Cloé Domenighetti; Pierre-Emmanuel Sugier; Ashwin Ashok Kumar Sreelatha; Claudia Schulte; Sandeep Grover; Océane Mohamed; Berta Portugal; Patrick May; Dheeraj R Bobbili; Milena Radivojkov-Blagojevic; Peter Lichtner; Andrew B Singleto; Dena G Hernandez; Connor Edsall; George D Mellick; Alexander Zimprich; Walter Pirker; Ekaterina Rogaeva; Anthony E Lang; Sulev Koks; Pille Taba; Suzanne Lesage; Alexis Brice; Jean-Christophe Corvol; Marie-Christine Chartier-Harlin; Eugénie Mutez; Kathrin Brockmann; Angela B Deutschländer; Georges M Hadjigeorgiou; Efthimos Dardiotis; Leonidas Stefanis; Athina Maria Simitsi; Enza Maria Valente; Simona Petrucci; Stefano Duga; Letizia Straniero; Anna Zecchinelli; Gianni Pezzoli; Laura Brighina; Carlo Ferrarese; Grazia Annesi; Andrea Quattrone; Monica Gagliardi; Hirotaka Matsuo; Yusuke Kawamura; Nobutaka Hattori; Kenya Nishioka; Sun Ju Chung; Yun Joong Kim; Pierre Kolber; Bart Pc van de Warrenburg; Bastiaan R Bloem; Jan Aasly; Mathias Toft; Lasse Pihlstrøm; Leonor Correia Guedes; Joaquim J Ferreira; Soraya Bardien; Jonathan Carr: Eduardo Tolosa; Mario Ezquerra; Pau Pastor; Monica Diez-Fairen; Karin Wirdefeldt; Nancy L Pedersen; Caroline Ran; Andrea C Belin; Andreas Puschmann; Clara Hellberg; Carl E Clarke; Karen E Morrison; Manuela Tan; Dimitri Krainc; Lena F Burbulla; Matt J Farrer; Rejko Krüger; Thomas Gasser; Manu Sharma; Alexis Elbaz; Comprehensive Unbiaised Risk Factor Assessment for Genetics and Environment in Parkinson's Disease (Courage-PD) consortium./titolo:Mendelian Randomisation Study of Smoking, Alcohol, and Coffee Drinking in Relation to Parkinson's Disease/doi:10.3233%2FJPD-212851/rivista:Journal of Parkinson's disease (Print)/anno:2022/pagina_da:267/pagina_a:282/intervallo_pagine:267–282/volume:12
Contains fulltext : 248871.pdf (Publisher’s version ) (Open Access) BACKGROUND: Previous studies showed that lifestyle behaviors (cigarette smoking, alcohol, coffee) are inversely associated with Parkinson's disease (PD). The prodromal phase of PD