Results 111 to 120 of about 253,299 (294)

What can developmental disorders tell us about the neurocomputational constraints that shape development? the case of Williams syndrome [PDF]

, 2003
The uneven cognitive phenotype in the adult outcome of Williams syndrome has led some researchers to make strong claims about the modularity of the brain and the purported genetically determined, innate specification of cognitive modules.
Karmiloff-Smith, Annette, Thomas, Michael S.C.   +1 more
core   +3 more sources

Practice Recommendations for Genetic Testing of Ataxias

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Over the past decade, significant advances in genetic testing for ataxia have improved diagnostic accuracy, informed clinical trial eligibility, guided treatment decisions, and enabled cascade testing of at‐risk relatives. While guidance exists for other neurogenetic conditions, there are no standardized guidelines on genetic ...
Sharan R. Srinivasan, Amy D. Mook, Michelle Rochman, Jin Yun Helen Chen, Weiyi Mu, George R. Wilmot, Liana S. Rosenthal, Wendy R. Uhlmann   +7 more
wiley   +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

Plasma Glial Fibrillary Acidic Protein Correlates With Brain Metal Burden in Wilson's Disease

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Neuroinflammation driven by extracellular copper contributes to neuronal damage in Wilson's disease (WD). This study investigated the relationship between brain metal burden and peripheral neuroinflammation markers in WD. Methods We conducted a cross‐sectional study involving 89 participants, including patients with WD (n = 63 ...
Sung‐Pin Fan, Ya‐Fang Chen, Cheng‐Hsuan Li, Yih‐Chih Kuo, Ni‐Chung Lee, Yin‐Hsiu Chien, Wuh‐Liang Hwu, Tai‐Chung Tseng, Tung‐Hung Su, Chien‐Ting Hsu, Huey‐Ling Chen, Chin‐Hsien Lin, Yen‐Hsuan Ni   +12 more
wiley   +1 more source

Neural correlates of phonological processing: Disrupted in children with dyslexia and enhanced in musically trained children

Developmental Cognitive Neuroscience, 2018
Phonological processing has been postulated as a core area of deficit among children with dyslexia. Reduced brain activation during phonological processing in children with dyslexia has been observed in left-hemispheric temporoparietal regions.
Jennifer Zuk, Meaghan V. Perdue, Bryce Becker, Xi Yu, Michelle Chang, Nora Maria Raschle, Nadine Gaab   +6 more
doaj   +1 more source

Oral motor deficits in speech-impaired children with autism [PDF]

, 2013
Absence of communicative speech in autism has been presumed to reflect a fundamental deficit in the use of language, but at least in a subpopulation may instead stem from motor and oral motor issues.
Lisa eGeorge, Matthew K Belmonte, Matthew K Belmonte, Matthew K Belmonte, Prathibha eKaranth, Reema eMuneer, Ruth eCherian, Tanushree eSaxena-Chandhok   +7 more
core   +2 more sources

Similarities in face and voice cerebral processing [PDF]

, 2017
In this short paper I illustrate by a few selected examples several compelling similarities in the functional organization of face and voice cerebral processing: (1) Presence of cortical areas selective to face or voice stimuli, also observed in non ...
Belin, Pascal
core   +2 more sources

Longitudinal Study of Salivary Biomarkers in the Definition of Clinico‐Molecular Progression of Parkinson's Disease

Annals of Clinical and Translational Neurology, EarlyView.
Longitudinal changes in salivary biomarkers in Parkinson’s disease (PD) from early (T0) to 4‐year follow‐up (T1), quantified by ELISA: oligomeric and total α‐synuclein, total and phosphorylated tau, MAP1LC3B (autophagy), and TNFa (inflammation). Blue arrows indicate direction of change at T1 vs T0 (up = increase; down = decrease).
Maria Ilenia De Bartolo, Daniele Belvisi, Matteo Costanzo, Claudia Caturano, Francesco Emanuele Bellomi, Carolina Cutrona, Flavia Aiello, Giorgio Leodori, Massimo Marano, Romina Mancinelli, Antonella Conte, Giovanni Fabbrini, Alfredo Berardelli, Giorgio Vivacqua   +13 more
wiley   +1 more source

Action video games improve reading abilities and visual-to-auditory attentional shifting in English-speaking children with dyslexia

Scientific Reports, 2017
Dyslexia is characterized by difficulties in learning to read and there is some evidence that action video games (AVG), without any direct phonological or orthographic stimulation, improve reading efficiency in Italian children with dyslexia.
Sandro Franceschini, Piergiorgio Trevisan, Luca Ronconi, Sara Bertoni, Susan Colmar, Kit Double, Andrea Facoetti, Simone Gori   +7 more
doaj   +1 more source

Assessing a Mitochondrial Disease Treatment via a Novel Statistical Technique for Accelerometer Data

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Therapeutic development for mitochondrial diseases, rare genetic disorders with pathogenic defects of oxidative phosphorylation, is hindered by unsatisfactory outcome measures. To address this problem, we provide the first clinical application of a novel, bias‐adjusted outcome measure of acceleration across a range of subjects ...
Ian W. McKeague, Kristin Engelstad, Yue Ge, Amber Tucker, Shufang Li, Jasim Uddin, Ziwei Zhao, John L. P. Thompson, Michio Hirano   +8 more
wiley   +1 more source