Results 151 to 160 of about 8,178 (257)

Phenotypic Exploration in Patients with Heterozygous Variant in AFG3L2 Gene: A Case‐Series and Literature Review

Movement Disorders Clinical Practice, EarlyView.
Abstract Background Variants in AFG3‐Like Matrix AAA Peptidase, Subunit 2 (AFG3L2) gene are associated with diverse clinical phenotypes. Here, we describe phenotypic findings of two unrelated children with de novo heterozygous variant and one family with inherited heterozygous variant in AFG3L2 gene.
Sangeetha Yoganathan, Laura Tochen, Jacky Ganguly, Sayoni Roy Chowdhury, Haya S AlFaris, Vivek Pai, Andrea LeBlanc‐Millar, Sara Breitbart, Hrishikesh Kumar, Manohar Shroff, Arun Reginald, Grace Yoon, Alfonso Fasano, George M Ibrahim, Carolina Gorodetsky   +14 more
wiley   +1 more source

The interplay between executive function and learning disabilities: Developmental cognitive neuroscience perspectives on reading, math, and ADHD. [PDF]

Dev Cogn Neurosci
Horowitz-Kraus T, Cirino PT, Cutting LE, Hughes-Berheim SS, Wilkey ED, Barnes MA, Rosch KS, Church JA.   +7 more
europepmc   +1 more source

The supporting effects of high luminous conditions on grade 3 oral reading fluency scores. [PDF]

Springerplus, 2014
Mott MS, Robinson DH, Williams-Black TH, McClelland SS.   +3 more
europepmc   +1 more source

Missense Variants in the A Isoform of FGF13 as a Novel Cause of Paroxysmal Dyskinesia

Movement Disorders, EarlyView.
Abstract Background Pathogenic variants within the unique N‐terminal inactivation particle of FGF13 isoform A (FGF13A) have so far been associated only with an X‐linked dominant epileptic encephalopathy (DEE). Objective The aim was to expand the clinical and molecular spectrum of FGF13A‐related disorder.
Cyril Mignot, Matthildi Athina Papathanasiou Terzi, Claudia Ravelli, Elisabeth Bosch, Xueqin Lin, Adeline Trauffler, Roseline Caumes, Andrew E. Fry, Clementine Fort, Gaelle Gauthe, Regina Trollmann, Thomas Wirth, Mathieu Anheim, Aurélie Méneret, Emmanuel Roze, Jean‐Madeleine de Sainte Agathe, Hailan He, Eleni Panagiotakaki, Gaëtan Lesca, André Reis, Diane Doummar, Thomas Smol, Georgia Vasileiou   +22 more
wiley   +1 more source

Identifying dyslexia-consistent reading profiles in mild intellectual disability: cluster-derived severity gradients and severity-calibrated classification rules. [PDF]

Front Psychiatry
Radtke BM, Jurek P, Olech M, Łada-Maśko A, Sajewicz-Radtke U.   +4 more
europepmc   +1 more source

Voice and Speech in Deep Brain Stimulation in Dystonia: A Retrospective Study, Systematic Review, and Meta‐Analysis

Movement Disorders, EarlyView.
Abstract Background Relatively little is known about voice and speech abnormalities and their changes after deep brain stimulation (DBS) in patients with dystonia. Objective The aim was to determine the incidence of speech abnormalities, including laryngeal dystonia, among patients with dystonia receiving DBS and to characterize their response to this ...
Ian O. Bledsoe, Nutan Sharma, Marta San Luciano, Jill L. Ostrem, Nicole E. Buie, Gaia Arno, Mikayla Day, Kristina Simonyan   +7 more
wiley   +1 more source

Development and validation of a reading comprehension and fluency screening assessment tool for children aged 7-10: implications for audiological rehabilitation. [PDF]

Front Psychol
Çelikgün B, Akdaş F, Eser BN, Minga R, Ölçek G, Gücüyener C, Edman S.   +6 more
europepmc   +1 more source

Oral Reading Fluency Development for Children with Emotional Disturbance or Learning Disabilities. [PDF]

Except Child, 2013
Wanzek J, Al Otaiba S, Petscher Y.
europepmc   +1 more source

Cefdinir reprograms Gram‐positive bacteria to synergize with lysozyme against superbugs

mLife, EarlyView.
Abstract Multidrug‐resistant (MDR) bacteria pose a critical global health threat, urgently requiring solutions. Cefdinir, the highest‐selling third‐generation cephalosporin but one now facing clinical obsolescence due to escalating resistance, is conventionally classified as a nascent cell wall synthesis inhibitor.
Qi Zhang, Yang Yang, Shuqi Li, Zhao Liu, Chun‐Kit Lee, Chi‐Bun Ko, Qian Zhao   +6 more
wiley   +1 more source

Diglossia and Orthographic Complexity as Multiplicative but not Additive Challenges in Arabic: A Critical Review. [PDF]

J Psycholinguist Res
Asadi I, Asli-Badarneh A.
europepmc   +1 more source