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Embracing Monogenic Parkinson's Disease: The MJFF Global Genetic PD Cohort
Movement Disorders, Volume 38, Issue 2, Page 286-303, February 2023., 2023 Abstract Background
As gene‐targeted therapies are increasingly being developed for Parkinson's disease (PD), identifying and characterizing carriers of specific genetic pathogenic variants is imperative. Only a small fraction of the estimated number of subjects with monogenic PD worldwide are currently represented in the literature and availability of Eva‐Juliane Vollstedt, Susen Schaake, Katja Lohmann, Shalini Padmanabhan, Alexis Brice, Suzanne Lesage, Christelle Tesson, Marie Vidailhet, Isabel Wurster, Faycel Hentati, Anat Mirelman, Nir Giladi, Karen Marder, Cheryl Waters, Stanley Fahn, Meike Kasten, Norbert Brüggemann, Max Borsche, Tatiana Foroud, Eduardo Tolosa, Alicia Garrido, Grazia Annesi, Monica Gagliardi, Maria Bozi, Leonidas Stefanis, Joaquim J. Ferreira, Leonor Correia Guedes, Micol Avenali, Simona Petrucci, Lorraine Clark, Ekaterina Y. Fedotova, Natalya Y. Abramycheva, Victoria Alvarez, Manuel Menéndez‐González, Silvia Jesús Maestre, Pilar Gómez‐Garre, Pablo Mir, Andrea Carmine Belin, Caroline Ran, Chin‐Hsien Lin, Ming‐Che Kuo, David Crosiers, Zbigniew K. Wszolek, Owen A. Ross, Joseph Jankovic, Kenya Nishioka, Manabu Funayama, Jordi Clarimon, Caroline H. Williams‐Gray, Marta Camacho, Mario Cornejo‐Olivas, Luis Torres‐Ramirez, Yih‐Ru Wu, Guey‐Jen Lee‐Chen, Ana Morgadinho, Teeratorn Pulkes, Pichet Termsarasab, Daniela Berg, Gregor Kuhlenbäumer, Andrea A. Kühn, Friederike Borngräber, Giuseppe de Michele, Anna De Rosa, Alexander Zimprich, Andreas Puschmann, George D. Mellick, Jolanta Dorszewska, Jonathan Carr, Rosangela Ferese, Stefano Gambardella, Bruce Chase, Katerina Markopoulou, Wataru Satake, Tatsushi Toda, Malco Rossi, Marcelo Merello, Timothy Lynch, Diana A. Olszewska, Shen‐Yang Lim, Azlina Ahmad‐Annuar, Ai Huey Tan, Bashayer Al‐Mubarak, Hasmet Hanagasi, Dariusz Koziorowski, Sibel Ertan, Gençer Genç, Patricia de Carvalho Aguiar, Melinda Barkhuizen, Marcia M.G. Pimentel, Rachel Saunders‐Pullman, Bart van de Warrenburg, Susan Bressman, Mathias Toft, Silke Appel‐Cresswell, Anthony E. Lang, Matej Skorvanek, Agnita J.W. Boon, Rejko Krüger, Esther M. Sammler, Vitor Tumas, Bao‐rong Zhang, Gaetan Garraux, Sun Ju Chung, Yun Joong Kim, Juliane Winkelmann, Carolyn M. Sue, Eng‐King Tan, Joana Damásio, Péter Klivényi, Vladimir S. Kostic, David Arkadir, Mika Martikainen, Vanderci Borges, Jens Michael Hertz, Laura Brighina, Mariana Spitz, Oksana Suchowersky, Olaf Riess, Parimal Das, Brit Mollenhauer, Emilia M. Gatto, Maria Skaalum Petersen, Nobutaka Hattori, Ruey‐Meei Wu, Sergey N. Illarioshkin, Enza Maria Valente, Jan O. Aasly, Anna Aasly, Roy N. Alcalay, Avner Thaler, Matthew J. Farrer, Kathrin Brockmann, Jean‐Christophe Corvol, Christine Klein, and on behalf of the MJFF Global Genetic Parkinson's Disease Study Group, Anna Aasly, Jan O. Aasly, Natalya Y. Abramycheva, Azlina Ahmad‐Annuar, Alberto Albanese, Roy N. Alcalay, Amaal Aldakheel, Thamer Alkhairallah, Bashayer Al‐Mubarak, Nada Al‐tassan, Victoria Alvarez, Paolo Amami, Grazia Annesi, Silke Appel‐Cresswell, Marco Antonio Araujo Leite, David Arkadir, Micol Avenali, Henrique Ballalai Ferraz, Soraya Bardien, Melinda Barkhuizen, Matthew J. Barrett, A. Nazlı Başak, Daniela Berg, Basar Bilgic, Bastiaan R. Bloem, Vincenzo Bonifati, Agnita J. W. Boon, Vanderci Borges, Friederike Borngräber, Max Borsche, Maria Bozi, Susan Bressman, Alexis Brice, Laura Brighina, Kathrin Brockmann, Norbert Brüggemann, Marta Camacho, Andrea Carmine Belin, Jonathan Carr, Martin Emiliano Cesarini, Mario Cornejo‐Olivas, Bruce Chase, Sun Ju Chung, Leonor Correia Guedes, Jordi Clarimon, Lorraine Clark, Jean‐Christophe Corvol, David Crosiers, Parimal Das, Patricia de Carvalho Aguiar, Joana Damásio, Giuseppe de Michele, Anna De Rosa, Elena Dieguez, Jolanta Dorszewska, Sibel Ertan, Stanley Fahn, Matthew J. Farrer, Ekaterina Y. Fedotova, Rosangela Ferese, Joaquim J. Ferreira, Tatiana Foroud, Manabu Funayama, Victor S. C. Fung, Monica Gagliardi, Stefano Gambardella, Gaetan Garraux, Alicia Garrido, Emilia M. Gatto, Gençer Genç, Nir Giladi, Pilar Gómez‐Garre, Hasmet Hanagasi, Nobutaka Hattori, Faycel Hentati, Jens Michael Hertz, Sergey N. Illarioshkin, Joseph Jankovic, Cristina Januario, Silvia Jesús Maestre, Valtteri Kaasinen, Meike Kasten, Hiroshi Kataoka, Anneke A. Kievit, Yun Joong Kim, Christine Klein, Péter Klivényi, Vladimir S. Kostic, Dariusz Koziorowski, Rejko Krüger, Andrea A. Kühn, Gregor Kuhlenbäumer, Ming‐Che Kuo, Anthony E. Lang, Guey‐Jen Lee‐Chen, Suzanne Lesage, Jia Lun Lim, Shen‐Yang Lim, Chin‐Hsien Lin, Katja Lohmann, Timothy Lynch, Karen Marder, Katerina Markopoulou, Mika Martikainen, Patrick May, Allan McCarthy, George D. Mellick, Manuel Menéndez‐González, Marcelo Merello, Pablo Mir, Anat Mirelman, Brit Mollenhauer, Hugo Morales Briceno, Ana Morgadinho, Huw Morris, Alexandra Mosejova, Kenya Nishioka, Özgür Öztop Çakmak, Diana A. Olszewska, Avi Orr‐Urtreger, Sinthuja Pachchek, Shalini Padmanabhan, Maria Teresa Periñán, Simona Petrucci, Marcia M. G. Pimentel, Radha Procopio, Teeratorn Pulkes, Andreas Puschmann, Caroline Ran, Olaf Riess, Owen A. Ross, Malco Rossi, Javier Ruiz‐Martinez, Esther M. Sammler, João Santos Pereira, Wataru Satake, Rachel Saunders‐Pullman, Susen Schaake, Maria Skaalum Petersen, Matej Skorvanek, Leonidas Stefanis, Alexandra I. Soto‐Beasley, Mário Sousa, Mariana Spitz, Oksana Suchowersky, Carolyn M. Sue, Ai Huey Tan, Eng‐King Tan, Avner Thaler, Fatih Tepgeç, Pichet Termsarasab, Christelle Tesson, Tatsushi Toda, Mathias Toft, Eduardo Tolosa, Luis Torres‐Ramirez, Vitor Tumas, Oya Uyguner, Enza Maria Valente, Bart van de Warrenburg, Marie Vidailhet, Eva‐Juliane Vollstedt, Ronald L. Walton, Cheryl Waters, Caroline H. Williams‐Gray, Juliane Winkelmann, Yih‐Ru Wu, Isabel Wurster, Zbigniew K. Wszolek, Ruey‐Meei Wu, Bao‐rong Zhang, Alexander Zimprich +306 morewiley +1 more sourceDirectly Discriminatory Algorithms
The Modern Law Review, Volume 86, Issue 1, Page 144-175, January 2023., 2023 Discriminatory bias in algorithmic systems is widely documented. How should the law respond? A broad consensus suggests approaching the issue principally through the lens of indirect discrimination, focusing on algorithmic systems’ impact. In this article, we set out to challenge this analysis, arguing that while indirect discrimination law has an ...Jeremias Adams‐Prassl, Reuben Binns, Aislinn Kelly‐Lyth +2 morewiley +1 more sourceCardiac contractility modulation therapy improves health status in patients with heart failure with preserved ejection fraction: a pilot study (CCM‐HFpEF)
European Journal of Heart Failure, Volume 24, Issue 12, Page 2275-2284, December 2022., 2022 The study primary endpoint – Kansas City Cardiomyopathy Questionnaire (KCCQ) overall summary score at baseline and 24‐week follow‐up and change from baseline. CCM, cardiac contractility modulation; HFpEF, heart failure with preserved ejection fraction; LVEF, left ventricular ejection fraction; CSS, clinical summary score; TSS, total symptom score ...Cecilia Linde, Marcin Grabowski, Piotr Ponikowski, Ishu Rao, Angela Stagg, Carsten Tschöpe +5 morewiley +1 more sourceIs it possible to change the human voice? - analysis of the medical review on the example of people facing gender dysphoria
Journal of Education, Health and Sport, 2023
Introduction
The term gender dysphoria has been known to humanity for a long time. Transsexuality has many definitions, but each of them leads to the same conclusions.Justyna Branewska, Kacper Kołodziejczyk, Barbara Ostrowska, Izabela Hop, Mikołaj Matysek, Anna Olszanicka, Jan Imioło, Anna Maciąg, Rafał Niemiec, Adam Galas +9 moredoaj +1 more sourceFarnesoid X receptor agonist for the treatment of chronic hepatitis B: A safety study
Journal of Viral Hepatitis, Volume 28, Issue 12, Page 1690-1698, December 2021., 2021 Abstract
The nuclear farnesoid X receptor (FXR) regulates bile acid homeostasis and is a drug target for metabolic liver diseases. FXR also plays an important role in hepatitis B virus (HBV) DNA transcription. In vitro and in mice, FXR agonist treatment leads to inhibition of viral replication and a decline in viral proteins, pregenomic RNA (pgRNA) and Robin Erken, Patrice Andre, Elise Roy, Neeltje Kootstra, Noelie Barzic, Hugo Girma, Christian Laveille, Pauline Radreau‐Pierini, Raphael Darteil, Jacky Vonderscher, Pietro Scalfaro, Pisit Tangkijvanich, Robert Flisiak, Henk Reesink +13 morewiley +1 more sourceErythritol: Evaluation of its Potential Therapeutic Applications and Discussion on Safety Issues - A Review
Journal of Education, Health and Sport, 2023
Introduction: Erythritol is a sugar alcohol that has become increasingly popular as a low-calorie sweetener due to its unique characteristics. It is a naturally occurring substance that is found in various foods such as fruits and vegetables.Mikołaj Matysek, Adam Galas, Rafał Niemiec, Justyna Branewska, Anna Olszanicka, Kacper Kołodziejczyk, Anna Maciąg, Izabela Hop, Jan Imioło, Barbara Ostrowska +9 moredoaj +1 more sourceCO2 ablative fractional laser - mechanism of action and assessment of safety, effectiveness in the treatment and possible side effects based on a review of scientific literature
Journal of Education, Health and Sport, 2023
Introduction: Laser therapy has been used in medicine for many years. One of the most willingly used is the fractional ablative CO2 laser. As a result of its use, the improvement of pigmentation, skin texture and signs of aging are achieved.Kacper Kołodziejczyk, Izabela Hop, Justyna Branewska, Barbara Ostrowska, Mikołaj Matysek, Anna Olszanicka, Jan Imioło, Anna Maciąg, Rafał Niemiec, Adam Galas +9 moredoaj +1 more source