Results 101 to 110 of about 156,479 (260)

Remote assessment of cognition in Parkinson’s disease and Cerebellar Ataxia: the MoCA test in English and Hebrew

Frontiers in Human Neuroscience
There is a critical need for accessible neuropsychological testing for basic research and translational studies worldwide. Traditional in-person neuropsychological studies are inherently difficult to conduct because testing requires the recruitment and ...
Sharon Binoy, Sharon Binoy, Sharon Binoy, Leila Montaser-Kouhsari, Penina Ponger, William Saban, William Saban   +6 more
doaj   +1 more source

An Adult Presentation of KIF11‐Related MCLID Syndrome: Case Report and 40‐Year Follow‐Up

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Pathogenic variants in KIF11 are linked to autosomal dominant syndromes with microcephaly, chorioretinopathy, lymphedema, and intellectual disability (MCLID), though adult presentations remain underreported. We report a 42‐year‐old female presenting with a de novo single‐amino acid in‐frame deletion in the KIF11 gene (c.1294_1296del; p ...
Thrishna Chathurvedula, Juvy Rabelas, Kareem Touleimat, Elaine Marchi, Ruhi Shah, Shaydah Kheradmand, Kuldeep Singh, Karen Amble, Gholson J. Lyon   +8 more
wiley   +1 more source

Interaction of FXTAS Family History and College Degree Attainment Predicts Trajectories of Cognitive and Motor Symptoms in FMR1 Premutation Carrier Women

American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, EarlyView.
ABSTRACT The present longitudinal study focuses on FMR1 premutation carrier women during midlife and early old age (n = 115). Bringing together the genetic risk factor of a family history of FXTAS and the environmental protective factor of higher education, the goal of the study was to determine how these factors potentially interact to predict self ...
Jinkuk Hong, Leann Smith DaWalt, Jessica Klusek, Elizabeth M. Berry‐Kravis, Marsha Mailick   +4 more
wiley   +1 more source

The EXPLAIN Study: Exploring Arthrogryposis Multiplex Congenita in Adults in Norway — A Description of Demographic, Medical, and Neurological Findings

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Arthrogryposis Multiplex Congenita (AMC) encompasses several hundred conditions with diverse genetic, pathophysiological, and clinical origins. The overarching EXPLAIN study explores underlying causes and implications of AMC and represents the largest clinical cohort of adults with AMC reported to date.
My Vuong Hermansen, Kristin Ørstavik, Unni Steen, Mathias Toft, Cathrine Brunborg, Lena Lande Wekre   +5 more
wiley   +1 more source

Light‐Controlled Modulation of 15‐Lipoxygenase‐1 Regulates Intestinal Inflammatory Signaling

Angewandte Chemie, EarlyView.
The developed target‐guided strategy enables the rational design of diazo‐based photoswitchable inhibitors of 15‐lipoxygenase‐1. Distinct molecular architectures program opposite light‐dependent activity, allowing on‐demand control of enzyme inhibition.
Anastasia Louka, Eirini‐Eleni Kalaitzaki, Athanasios Panousis, Sotirios Bonoras, Charalampos Livas, George Froudakis, Ioannis Drygiannakis, Athina Damianaki, George Kolios, Vassilis Valatas, Nikolaos Eleftheriadis   +10 more
wiley   +2 more sources

One‐step generation of heritable mitochondrial DNA multiplex‐engineered rats using DddA‐derived cytosine base editor

Animal Models and Experimental Medicine, EarlyView.
We established that mixed DdCBE microinjection is an efficient, heritable, and precise strategy for generating multiplex mtDNA mutant rats. This advancement significantly expands the utility of DdCBEs for mitochondrial disease modeling, providing a robust platform for exploring the pathogenic mechanisms of complex mtDNA mutations and developing ...
Xu Zhang, Keru Li, Lei Tan, Wei Chen, Shan Gao, Chenyang Liu, Shuo Pan, Jiayue He, Ning Liu, Gefan Wan, Wei Dong, Weining Kong, Bin Shen, Xiaolong Qi, Yuanwu Ma   +14 more
wiley   +1 more source

Scalable ω‐Substituted α‐Olefins via Living Chain Transfer Telomerization: A Platform for Next Generation Polyolefins

Angewandte Chemie, EarlyView.
A highly versatile and general strategy is presented for the scalable production of practical quantities of ω‐substituted α‐olefins using tris(ω‐substituted alkyl)aluminum telogens that are readily available through a “green” synthesis from commodity triisobutylaluminum and ethene as the taxogen. These new α‐olefins can be designed and used as monomers
Lauren G. Logue, Cole M. Burrows, Vince J. Wedekind, Hyunku C. Kim Jr., Lawrence R. Sita   +4 more
wiley   +2 more sources

Impact of ataxia aetiology on self-reported mental health, fatigue, cognition and ataxia symptom severity

Discover Psychology
Introduction It has been increasingly recognised that the impact of Ataxia extends beyond physical and motor symptomology. However, it is less known whether self-reported non-motor and ataxia symptom severity varies across ataxias of differing aetiology,
Emma Jenkins, Warren Dunger
doaj   +1 more source

Monoallelic POLR3A Variants Cause Early‐Onset Peripheral Neuropathy

Annals of Neurology, EarlyView.
Objective Biallelic variants in genes encoding the RNA polymerase III complex (Pol III) cause a spectrum of neurological disorders primarily affecting the central nervous system. Monoallelic variants have been reported in the POLR3B subunit only, associated with neurodevelopmental disorder, epilepsy, and peripheral neuropathy.
Luiza L. P. Ramos, Jevin M. Parmar, Robin Wijngaard, Bianca R. Grosz, Tamas Lazar, Ligia Mateiu, Steve Vucic, Kishore R. Kumar, Dennis Yeow, Laura I. Rudaks, Lonneke de Boer, Annemarie de Vreugd, David A. Koolen, Thatjana Gardeitchik, Anita Cairns, Krishnan Iyengar, Fernando Kok, Fernanda Barbosa Figueiredo, Alzira Alves de Siqueira Carvalho, Luiz S. Mageste Barbosa, Rodrigo Rezende Arantes, Tyler Rehbein, Jordan E. Bontrager, Elizabeth P. Wood, Janet E. Sowden, Gavin Monahan, Meutia Kumaheri, Ivy Cuijt, Melina Ellis, Gonzalo Perez‐Siles, Elyshia McNamara, Ronald van Beek, Celine B. Meijers, Ivaylo Tournev, Stephan Zuchner, Shoshana J. Wodak, Clara D. M. van Karnebeek, Nigel Laing, Liana N. Semcesen, David A. Stroud, David N. Herrmann, Velina Guergueltcheva, Marina L. Kennerson, Machteld M. Oud, Gianina Ravenscroft, Ayse Candayan, Albena Jordanova   +46 more
wiley   +1 more source

Functional and Network PHAs via Stereoselective Polymerization and Tailored Post‐Transformation

Angewandte Chemie, EarlyView.
Catalyst‐controlled stereoselective (co)polymerization of functionalized lactones produces vinyl‐, allyl‐, and propargyl‐functionalized PHAs with high syndiotacticity and a broad applicable temperature window, which can be further transformed into crosslinked PHA thermosets, elastic supramolecular networks, and functional grafts. ABSTRACT Incorporation
Ruirui Li, Yingluo Zhao, Jun‐Jie Tian, Ethan C. Quinn, Yunpeng Gao, Maëlle T. Gace, Eugene Y.‐X. Chen   +6 more
wiley   +2 more sources