Results 11 to 20 of about 7,233 (216)

«Como si tocara el piano». Narrativas y procesos asistenciales de la enfermedad de Huntington en Italia [PDF]

Antropólogos Iberoamericanos en Red, 2020
Este trabajo tiene el objetivo de explorar la experiencia vivida por los cuidadores de enfermos de Huntington y profundizar la relación con los profesionales a partir del análisis etnográfico de un grupo de cuidadores que asisten a un grupo de autoayuda ...
Nicoletta Castagna
doaj   +1 more source

Early prediction of Alzheimer's disease and related dementias using real‐world electronic health records

Alzheimer's &Dementia, Volume 19, Issue 8, Page 3506-3518, August 2023., 2023
Abstract Introduction This study aims to explore machine learning (ML) methods for early prediction of Alzheimer's disease (AD) and related dementias (ADRD) using the real‐world electronic health records (EHRs). Methods A total of 23,835 ADRD and 1,038,643 control patients were identified from the OneFlorida+ Research Consortium.
Qian Li, Xi Yang, Jie Xu, Yi Guo, Xing He, Hui Hu, Tianchen Lyu, David Marra, Amber Miller, Glenn Smith, Steven DeKosky, Richard D. Boyce, Karen Schliep, Elizabeth Shenkman, Demetrius Maraganore, Yonghui Wu, Jiang Bian   +16 more
wiley   +1 more source

Modified Periodic Acid‐Schiff (PAS) Is an Alternative to Safranin O for Discriminating Bone–Cartilage Interfaces

JBMR Plus, Volume 7, Issue 6, June 2023., 2023
Safranin O is a commonly used dye that binds to proteoglycans in cartilage and is routinely used to assess growth plate dynamics and/or fracture repair at bone–cartilage interfaces. Decalcification and processing methods can deplete proteoglycans, rendering weak or absent safranin O staining with indiscriminate cartilage boundaries.
Kelsey M Kjosness, Philip L Reno, Maria A Serrat   +2 more
wiley   +1 more source

The role of STING signaling in central nervous system infection and neuroinflammatory disease

WIREs Mechanisms of Disease, Volume 15, Issue 3, May/June 2023., 2023
Following brain injury, cGAS‐STING signaling in resident microglia is activated, producing interferons and chemokines that result in the infilitration of peripheral immune cells. Abstract The cyclic guanosine monophosphate–adenosine monophosphate (GMP‐AMP) synthase‐Stimulator of Interferon Genes (cGAS‐STING) pathway is a critical innate immune ...
Lauren E. Fritsch, Colin Kelly, Alicia M. Pickrell   +2 more
wiley   +1 more source

Expanded and Independent Spanish Validation of the MDS‐Non Motor Rating Scale

Movement Disorders Clinical Practice, Volume 10, Issue 4, Page 586-595, April 2023., 2023
Abstract Background The Movement Disorder Society‐sponsored Non‐motor Rating Scale (MDS‐NMS) assess the severity and disability caused by non‐motor symptoms (NMS) in Parkinson's disease (PD). Objective This article encapsulates the formal process for completing this program and the data on the first officially approved non‐English version of the MDS ...
Esther Cubo, Sheng Luo, Pablo Martínez‐Martín, Glenn T. Stebbins, Jeffrey Lin, Dongrak Choi, Alvaro García‐Bustillo, Pablo Mir, Diego Santos‐Garcia, Marcos Serrano‐Dueñas, Mayela Rodriguez‐Violante, Carlos Singer, and the Spanish MDS‐NMS Validation Study Group, Carmen Borrue Fernández, Marina Mata Alvarez‐Santullano, Iria Cabo, Inés Legarda Ramírez, María Fuensanta Valero García, Bárbara Vives Pastor, Anna Planas, Nuria Caballol Pons, Asunción Ávila, Nuria López Ariztegui, Mª. Isabel Morales Casado, Mar Sierra Peña, María Victoria Sánchez Peláez, Sonia Escalante Arroyo, Lidia Binela Lara Lezama, María Álvarez Sauco, Gustavo Fernández Pajarín, Fernando Alonso Frech, Víctor Gómez Mayordomo, Álvaro Sánchez Ferro, David Seoane Fernández, Carmen Gasca Salas, Elena, Natera Villalba, Dra Samaniego‐Toro, Jorge Hernández‐Vara, Nelida Garretto, Tomoko Arakaki, Henry Moore, Ingrid Estrada‐Bellmann, Ivonne Pedroso, Oscar Bernal   +44 more
wiley   +1 more source

The manifold role of octapeptide repeats in prion protein assembly

Peptide Science, Volume 115, Issue 2, March 2023., 2023
Abstract Prion protein misfolding is associated with fatal neurodegenerative disorders such as kuru, Creutzfeldt–Jakob disease, and several animal encephalopathies. While the C‐terminal 106–126 peptide has been well studied for its role in prion replication and toxicity, the octapeptide repeat (OPR) sequence found within the N‐terminal domain has been ...
Amy H. Guadagno, Scott H. Medina
wiley   +1 more source

La enfermedad de Huntington en Asturias. 1996 - 2008

, 2014
Antecedentes/Objetivos: La Enfermedad de Huntington es una dramática enfermedad neurológica afectada por un considerable determinismo biológico y una evolución desfavorable que conlleva una gran carga de enfermedad y una afectación en generaciones anteriores y posteriores a los casos que puede ser evitada con consejo genético.
Margolles, Pedro, Margolles, Mario
  +5 more sources

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 more
wiley   +1 more source

Endocannabinoid signaling in brain diseases: Emerging relevance of glial cells

Glia, Volume 71, Issue 1, Page 103-126, January 2023., 2023
Main Points Endocannabinoids modulate glial cells. Targeting glial cells with endocannabinoids is a therapeutic option in neurological disorders. Efficacious endocannabinoid‐based therapies require analysis of cell‐type and disease‐specific mechanisms.
Ana Bernal‐Chico, Vanja Tepavcevic, Andrea Manterola, Carmen Utrilla, Carlos Matute, Susana Mato   +5 more
wiley   +1 more source

Shedding light on motor premanifest myotonic dystrophy type 1: A molecular, muscular and central nervous system follow‐up study

European Journal of Neurology, Volume 30, Issue 1, Page 215-223, January 2023., 2023
Abstract Background and purpose Myotonic dystrophy type 1 (DM1) is a hereditary and multisystemic disease that is characterized by heterogeneous manifestations. Although muscular impairment is central to DM1, a premanifest DM1 form has been proposed for those characterized by the absence of muscle signs in precursory phases.
Joana Garmendia, Garazi Labayru, Miren Zulaica, Jorge Villanúa, Adolfo López de Munain, Andone Sistiaga   +5 more
wiley   +1 more source