Results 221 to 230 of about 8,409,709 (279)

A Gap Analysis of Deep Brain Stimulation for Childhood‐Onset Movement Disorders

Movement Disorders, EarlyView.
Abstract Background Deep brain stimulation (DBS) is an established and increasingly utilized therapy for childhood‐onset movement disorders. However, pediatric DBS poses unique challenges that are not adequately addressed by adult‐derived paradigms. Objective To identify key gaps in the current use of DBS in childhood‐onset movement disorders and to ...
Daniela Munoz‐Chesta, Carolina Gorodetsky, Todd M. Herrington, Angela L. Hewitt, Daniel E. Lumsden, Jennifer O'Malley, Terence Sanger   +6 more
wiley   +1 more source

Dysregulations of sonic hedgehog signaling in MED12-related X-linked intellectual disability disorders. [PDF]

Mol Genet Genomic Med, 2019
Srivastava S, Niranjan T, May MM, Tarpey P, Allen W, Hackett A, Jouk PS, Raymond L, Briault S, Skinner C, Toutain A, Gecz J, Heath W, Stevenson RE, Schwartz CE, Wang T.   +15 more
europepmc   +1 more source

X-linked intellectual disability, Pai type [PDF]

, 2020
openaire   +1 more source

DNA Repair Pathway Variants Are Enriched in Individuals with Biallelic AAGGG CANVAS and RFC1‐Related Disease

Movement Disorders, EarlyView.
Abstract Background Cerebellar ataxia, neuropathy and vestibular are flexia syndrome (CANVAS) and RFC1‐related disease are most commonly caused by biallelic AAGGG repeat expansions in RFC1. The high population frequency of this expansion compared to the frequency of CANVAS suggests incomplete penetrance.
Xuemin Wang, Liam G. Fearnley, Kayli C. Davies, Penny Snell, Stuart Lee, Victoria E. Jackson, Justin Read, Michael Milton, Ian H. Harding, Martin B. Delatycki, David J. Szmulewicz, Paul J. Lockhart, Melanie Bahlo, Haloom Rafehi   +13 more
wiley   +1 more source

An Open‐Source, Reproducible MRI Data Acquisition and Reconstruction Workflow Using Pulseq: Multi‐Site and Cross‐Vendor Validation

Magnetic Resonance in Medicine, EarlyView.
ABSTRACT Purpose Reproducibility in MRI is limited by variability in data acquisition, formatting, and reconstruction across sites and vendors. This work aimed to mitigate these challenges through an open‐source, vendor‐independent workflow originally developed for the 2023–24 ISMRM Repeat It with Me: Reproducibility Team Challenge.
Qingping Chen, Thomas H. M. Roos, Amaya Murguia, Yuhai Xie, Zheng Liu, Pengcheng Xu, Shohei Fujita, Sebastian Littin, Yogesh Rathi, Jiayu Zhu, Berkin Bilgic, Jon‐Fredrik Nielsen, Maxim Zaitsev   +12 more
wiley   +1 more source

OpenMRF: A Modular, Vendor‐Neutral Open‐Source Framework for Magnetic Resonance Fingerprinting Using Pulseq

Magnetic Resonance in Medicine, EarlyView.
ABSTRACT Purpose Widespread adoption and methodological advancement of magnetic resonance fingerprinting (MRF) are limited by the lack of unified, reproducible implementation frameworks and fragmented open‐source tools. To address these barriers, we introduce OpenMRF—a comprehensive Pulseq‐based solution—designed to enable standardized and transferable
Tom Griesler, Jannik Stebani, Sydney Kaplan, Ivaylo Angelov, Petra Albert, Tobias Wech, Martin Blaimer, Xiang Wang, Qingping Chen, Maxim Zaitsev, Zhibo Zhu, Qi Liu, Peter Martin, Jon‐Fredrik Nielsen, Jesse I. Hamilton, Peter Nordbeck, Nicole Seiberlich, Maximilian Gram   +17 more
wiley   +1 more source

Urinary Incontinence and Risk of All‐Cause Mortality: A Systematic Review and Meta‐Analysis of Observational Studies

Neurourology and Urodynamics, EarlyView.
ABSTRACT Aims Urinary incontinence (UI) is a prevalent condition among adults and imposes a substantial societal burden, yet its association with all‐cause mortality remains uncertain. This study systematically reviewed and quantified the association between UI and mortality risk.
Yanyan Zhou, Liwei Wang, Weijia Sun, Zhong Wang, Kuiqing Shao, Feng Xu, Zhan Gao   +6 more
wiley   +1 more source

Rare Genetic Variation in 135 Families With Family History Suggestive of X-Linked Intellectual Disability. [PDF]

Front Genet, 2019
Sanchis-Juan A, Bitsara C, Low KY, Carss KJ, French CE, Spasic-Boskovic O, Jarvis J, Field M, Raymond FL, Grozeva D.   +9 more
europepmc   +1 more source

Harnessing plant susceptibility genes into strategies for enhanced disease resistance

New Plant Protection, EarlyView.
Integrated model of S gene modules in plant pathogen interactions. This model summarises representative host susceptibility modules that can be exploited by bacterial, fungal and viral pathogens. In the bacterial infection module, Xanthomonas transcription activator‐like effectors activate OsSWEET14 through effector‐binding elements in its promoter ...
Can Chen, Yuzhe Shi, Hanwen Miao, Ning Wang, Xiaojie Wang   +4 more
wiley   +1 more source

Curating the Fetal Genome: Experience of the ClinGen Prenatal Gene Curation Expert Panel (GCEP)

Prenatal Diagnosis, EarlyView.
ABSTRACT Objective Expert prenatal focused gene‐disease curation is necessary to accurately inform clinical care in the setting of rapidly expanding prenatal genomic sequencing. Methods An international Prenatal Gene Curation Expert Panel assembled and systematically reviewed genes asserted to be associated with prenatal hydrops, stillbirth, or severe ...
Stephanie N. Galloway, Jessica L. Giordano, Carrie Shawber, Natalie Chandler, Lauren Westerfield, Prenatal GCEP Panel members, Ronald J. Wapner, Wendy Chung, Ignatia B. Van den Veyver, Shagun Aggarwal, Caitlin Baptiste, Brenna Boyd, Amanda Buchanan, Alicia Byrne, Imen Chakchouk, David Chitayat, Lyn Chitty, Pinal Dalwadi, Avinash Dharmadhikari, Lilian Downie, Stephanie Dukhovny, Mythily Ganapathi, Kelly Gilmore, Elena Greenfeld, Lylach Haizler‐Cohen, Vaidehi Jobanputra, Gabrielle Litteken, Hannah Perrin, Julie Ratliff, Rebecca Reimers, Erin Riggs, Teresa Sparks, Samantha Stover, Amanda Thomas‐Wilson, Leandra Tolusso, Neeta Vora, Tsegaselassie Workalemahu, Roni Zemet‐Lazar   +37 more
wiley   +1 more source