Results 131 to 140 of about 438,879 (204)

JAK2 Variant and Parkinsonian Syndromes: Coincidence or Pathophysiological Link?

open access: yesMovement Disorders Clinical Practice, EarlyView.
Abstract Background JAK2 variants are a hallmark of myeloproliferative neoplasms (MPNs), including polycythemia vera and essential thrombocythemia. These disorders are often associated with thrombotic and inflammatory complications. From a movement disorder perspective, chorea is a rare but well‐recognized neurological occurrence in this context ...
Elena Ardila Jurado   +5 more
wiley   +1 more source

Nanomedicine in cerebral palsy

open access: yes, 2013
Bindu Balakrishnan,1 Elizabeth Nance,1 Michael V Johnston,2 Rangaramanujam Kannan,3 Sujatha Kannan1 1Department of Anesthesiology and Critical Care Medicine, Johns Hopkins University; Baltimore, MD, USA; 2Department of Neurology and Pediatrics, Kennedy ...
Kannan R   +4 more
core  

Proteomic Signatures of Ectopic Fat Distribution: Tissue‐Specific Drivers and Clinical Implications

open access: yesMed Research, EarlyView.
Integration of plasma proteomics and multi‐organ MRI in 666 UK Biobank participants, combined with a knockoff‐based causal inference and machine learning framework, reveals organ‐specific drivers of ectopic fat: PLA2G1B (pancreas), ERBB2/IGFBP2 (liver), CA14 (muscle), and NCAM2/TNFRSF10B (pericardium). These drivers engage distinct pathways (e.g., PI3K‐
Bing Zhang   +9 more
wiley   +1 more source

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

open access: yesMovement 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   +7 more
wiley   +1 more source

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

open access: yesMovement 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   +6 more
wiley   +1 more source

Higher visual abilitiesd learning difficulties in children with cerebral palsy

open access: yes, 2012
Children with spastic cerebral palsy are often affected by linguistic and cognitive disorders, which directly involve learning processes. Up to now there are a few studies analyzing the learning skills of CP children, most of them describing the ...
ROSSI, ANDREA   +10 more
core  

Resolving Complex Structural Variants in Undiagnosed Rare Movement Disorders via Multimodal Genomics and Multi‐omics

open access: yesMovement Disorders, EarlyView.
Abstract Background Long‐read sequencing and multi‐omic analytical frameworks are increasingly being adopted in rare disease diagnostics. However, clinical workflows comprehensively integrating these methodologies remain uncommon. Objective This study aimed to assess the potential and limitations of integrating long‐read genomic, transcriptomic, and ...
Ugo Sorrentino   +23 more
wiley   +1 more source

Early detection of Australian Aboriginal and Torres Strait Islander infants at high risk of adverse neurodevelopmental outcomes at 12 months corrected age: LEAP-CP prospective cohort study protocol

open access: yesBMJ Open, 2022
Robert S Ware   +7 more
doaj   +1 more source

NKX2‐1 Downstream Regulatory Structural Variants Explain a Substantial Proportion of Molecular Diagnoses in Patients With Benign Hereditary Chorea

open access: yesMovement Disorders, EarlyView.
Abstract Background NKX2‐1–related disorders (NKX2‐1‐RDs) classically present with a triad of neurological, endocrine, and pulmonary manifestations, including benign hereditary chorea. However, in a fraction of patients, NKX2‐1 coding variants are not detected, and variants outside the NKX2‐1 locus have been reported.
Robin Wijngaard   +33 more
wiley   +1 more source

Experiences of emerging adults with cerebral palsy in tertiary education and employment : lessons from research and the field

open access: yes, 2014
Objective: Successful participation in tertiary education and employment is a key developmental task for young people, and people with cerebral palsy (CP) aspire to success in the same way as their peers without disability.
Cusick, Anne, Ison, Nicole L. (R18452)
core  

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