Results 101 to 110 of about 5,300,714 (382)

Understanding intellectual disability through RASopathies [PDF]

, 2014
Intellectual disability, commonly known as mental retardation in the International Classification of Disease from World Health Organization, is the term that describes an intellectual and adaptive cognitive disability that begins in early life during the
Pagani, Mario Rafael, San Martín, Alvaro   +1 more
core   +1 more source

Functional Connectivity Associations With Markers of Disease Progression in GRN Pathogenic Variant Carriers

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Autosomal dominant progranulin (GRN) pathogenic variants are a genetic cause of frontotemporal lobar degeneration. Though clinical trials for GRN‐related therapies are underway, there is an unmet need for biomarkers that can predict symptom onset and track disease progression.
Taru M. Flagan, Stephanie A. Chu, Suvi Häkkinen, Liwen Zhang, David McFall, Jonathan D. Rohrer, Jesse A. Brown, Alex J. Lee, Kristen Fernhoff, Lorenzo Pasquini, Katherine P. Rankin, Maria Luisa Mandelli, Maria Luisa Gorno‐Tempini, Jennifer S. Yokoyama, Virginia E. Sturm, Brian Appleby, Bradford C. Dickerson, Kimiko Domoto‐Reilly, Tatiana Foroud, Daniel H. Geschwind, Nupur Ghoshal, Neill R. Graff‐Radford, Ging‐Yuek Robin Hsiung, Eric J. Huang, Edward Huey, Kejal Kantarci, Irene Litvan, Ian R. Mackenzie, Mario F. Mendez, Chiadi U. Onyike, Leonard Petrucelli, Eliana Marisa Ramos, Erik D. Roberson, Julio C. Rojas, Maria Carmela Tartaglia, Arthur W. Toga, Sandra Weintraub, Leah K. Forsberg, Hilary W. Heuer, Brad F. Boeve, Adam L. Boxer, Howard J. Rosen, Bruce L. Miller, Fermin Moreno, William W. Seeley, Suzee E. Lee, on behalf of the ALLFTD Consortium   +46 more
wiley   +1 more source

Prominent tauopathy and intracellular β-amyloid accumulation triggered by genetic deletion of cathepsin D: implications for Alzheimer disease pathogenesis

Alzheimer’s Research & Therapy
Background Cathepsin D (CatD) is a lysosomal protease that degrades both the amyloid-β protein (Aβ) and the microtubule-associated protein, tau, which accumulate pathognomonically in Alzheimer disease (AD), but few studies have examined the role of CatD ...
Heather M. Terron, Sagar J. Parikh, Samer O. Abdul-Hay, Tomoko Sahara, Dongcheul Kang, Dennis W. Dickson, Paul Saftig, Frank M. LaFerla, Shelley Lane, Malcolm A. Leissring   +9 more
doaj   +1 more source

A novel de novo nonsense mutation in ZC4H2 causes Wieacker‐Wolff Syndrome

Molecular Genetics & Genomic Medicine, 2020
Background Wieacker‐Wolff syndrome (WWS) is a congenital X‐linked neuromuscular disorder, which was firstly reported in 1985. Zinc finger C4H2‐type containing (ZC4H2) gene has been found to be associated with the disease pathogenesis.
Dan Wang, Dongjie Hu, Zhichao Guo, Rong Hu, Qunxian Wang, Yannan Liu, Mingjing Liu, Zijun Meng, Huan Yang, Yun Zhang, Fang Cai, Weihui Zhou, Weihong Song   +12 more
doaj   +1 more source

Modeling neurocognitive and neurobiological recovery in addiction [PDF]

, 2019
This book focuses on "what to know" and "how to apply" information, prioritizing novel principles and delineating cutting-edge assessment, phenotyping and treatment ...
Abé, Agartz, Aharonovich, Almeida, Anderson, Bae, Bates, Bernardin, Blaine, Block, Bolla, Brody, Buhler, Cardenas, Cardenas, Cavazos-Rehg, Chang, Chang, Charlet, Crews, Crews, de Wit, Demirakca, Di Sclafani, Dlugos, Dom, Dominguez-Salas, Duka, Durazzo, Durazzo, Durazzo, Durazzo, Durazzo, Durazzo, Durazzo, Durazzo, Durazzo, Durazzo, Durazzo, Durazzo, Durazzo, Durazzo, Durazzo, Durazzo, Durazzo, Durazzo, Durazzo, Eldreth, Ernst, Ernst, Ernst, Ersche, Ersche, Fein, Fein, Fein, Fernandez-Serrano, Fernandez-Serrano, Franklin, Gansler, Gazdzinski, Gazdzinski, Gazdzinski, Gazdzinski, Giorgi, Glass, Goldstein, Goldstein, Hanlon, Hasin, Heinz, Hermann, Hirsiger, Hoefer, Holman, Humphreys, Hwang, Iudicello, Kalman, Ke, Kim, Klein, Koob, Le Berre, Licata, Loeber, Mackey, Matochik, Matochik, Medina, Meyerhoff, Meyerhoff, Meyerhoff, Meyerhoff, Meyerhoff, Meyerhoff, Meyerhoff, Mon, Mon, Mon, Moorman, Morales, Moreno-Alcázar, Moss, Murray, Murray, Nader, Nicolas, Nordahl, Noyan, O'Neill, Oishi, Oscar-Berman, Oscar-Berman, Parks, Parvaz, Passetti, Pennington, Pennington, Pfefferbaum, Prescot, Prescot, Rabin, Rando, Rezapour, Rogers, Rourke, Rupp, Sailasuta, Salo, Schmidt, Schulte, Segobin, Seo, Seo, Simon, Sneider, Sorg, Stavro, Stevens, Streeter, Sullivan, Sullivan, Sullivan, Sullivan, Thompson, Tunving, van Eijk, Verdejo-Garcia, Verdejo-Garcia, Verdejo-Garcia, Volkow, Volkow, Volkow, Volkow, Volkow, Volkow, Volkow, Volkow, Vonmoos, Walitzer, Wang, Wang, Wang, Weber, Weinberger, Weinberger, Weinberger, Williams, Witkiewitz, Xiao, Yang, Yeh, Yoon, Younger, Yucel, Zahr, Zahr, Zatorre, Zou   +179 more
core   +1 more source

Chronic Pain in Parkinson’s Disease: Prevalence, Sex Differences, Regional Anatomy and Comorbidities

Annals of Clinical and Translational Neurology, EarlyView.
Chronic pain affected 66.2% of 10,631 individuals with Parkinson's disease, with higher prevalence and severity in females. Pain most often involved the buttocks, lower back, neck, and knees, and was linked to depression, sleep disorders, and osteoarthritis.
Natalia S. Ogonowski, Freddy Chafota, Fangyuan Cao, Amanda Wei Yin Lim, Victor Flores‐Ocampo, Santiago Díaz‐Torres, Zuriel Ceja, Luis M. García‐Marín, Scott F. Farrell, Kishore R. Kumar, Jane Alty, George D. Mellick, Trung Thành Ngô, Miguel E. Rentería   +13 more
wiley   +1 more source

Great nature’s second course: Introduction to the special issue on the behavioral neuroscience of sleep [PDF]

, 2016
Sleep is necessary for normal psychological functioning, and psychological function in turn affects sleep integrity. Recent investigations delineate the relation of sleep to a broad array of processes ranging from learning and memory to emotional ...
Cronin-Golomb, Alice
core   +1 more source

Maternal IL-6 during pregnancy can be estimated from newborn brain connectivity and predicts future working memory in offspring

Nature Neuroscience, 2018
Several lines of evidence support the link between maternal inflammation during pregnancy and increased likelihood of neurodevelopmental and psychiatric disorders in offspring. This longitudinal study seeks to advance understanding regarding implications
Marc D. Rudolph, A. Graham, E. Feczko, Oscar Miranda-Dominguez, J. Rasmussen, Rahel Nardos, S. Entringer, P. Wadhwa, C. Buss, D. Fair   +9 more
semanticscholar   +1 more source

Genetic Modifiers of Parkinson's Disease: A Case–Control Study

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective To examine the associations of LRRK2 p.G2019S, GBA1 p.N409S, polygenic risk scores (PRS), and APOE E4 on PD penetrance, risk, and symptoms. Methods We conducted a US‐based observational case–control study using data from the 23andMe Inc. and Fox Insight Genetic Substudy (FIGS) databases.
Matthew J. Kmiecik, Michael V. Holmes, Pierre Fontanillas, Giulietta M. Riboldi, Ruth B. Schneider, Jingchunzi Shi, Anna Guan, Susana Tat, Steven Micheletti, Keaton Stagaman, Josh Gottesman, David A. Hinds, Joyce Y. Tung, 23andMe Research Team, Stella Aslibekyan, Lucy Norcliffe‐Kaufmann   +15 more
wiley   +1 more source

Association between periodontal disease and age-related cognitive impairment: a narrative review

BMC Oral Health
Background Previous studies have shown associations between periodontal disease and age-related cognitive impairment. However, little is known about the different cognitive functions that may be affected in patients with periodontal disease.
Naoki Saji, Kenji Matsushita, Akinori Takeda, Takashi Sakurai   +3 more
doaj   +1 more source