Results 201 to 210 of about 2,928,215 (296)

A Novel KCNA1 Variant in a Patient With Tremor and Autism Spectrum Disorder Causes Mixed LOF/GOF Defects of Kv1.1 Channels

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Variants in KCNA1, encoding the Kv1.1 potassium channel, cause neurological disorders including episodic ataxia and developmental and epileptic encephalopathy. We identified a novel KCNA1 variant (A401T) in a 16‐year‐old patient with autism spectrum disorder, borderline intellectual disability, and tremor, without episodic ataxia or epilepsy ...
Juan Darío Ortigoza‐Escobar, Laura Marti‐Sánchez, Loreto Martorell, Giorgia Dinoi, Antonio Vittorio Buono, Annamaria De Luca, Antonella Liantonio, Paola Imbrici   +7 more
wiley   +1 more source

Sustained shoulder elevation posture: an under-recognized functional movement disorder phenotype. [PDF]

Brain Commun
Albanese A, Romito LM, Amami P, Calandrella D, De Santis T.   +4 more
europepmc   +1 more source

microRNA‐7‐5p and α‐Synuclein SAA Predict Parkinson's Disease Phenoconversion

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Corroborate blood neuron‐derived extracellular vesicle (NDEV) alpha‐synuclein (αSyn), the CSF αSyn seed amplification assay (αSyn‐SAA), and blood microRNA‐7‐5p (miR‐7‐5p) as markers for Parkinson's disease (PD) phenoconversion and determine if combining these markers would help select subjects who would be more likely to phenoconvert.
Shayan Zadegan, Praveen Velammal, Kanmani Muthiah, Madhu Jatty, Christopher Adams   +4 more
wiley   +1 more source

Update on Medical Treatments for Essential Tremor: An International Parkinson and Movement Disorder Society Evidence-Based Medicine Review. [PDF]

Mov Disord
Dash D, Bruno V, Schwingenschuh P, Lyons KE, Tan EK, Testa CM, Lloret SP, Balint B, Costa J, de Bie RMA, Silverdale MA, Tan AH, Mestre TA.   +12 more
europepmc   +1 more source

Developing and Evaluating a Laboratory‐Based Frailty Index for the Prediction of Long‐Term Health Outcomes in Systemic Lupus Erythematosus

Arthritis Care &Research, EarlyView.
Objective We aimed to construct and evaluate the first laboratory‐based frailty index (FI‐Lab) for predicting adverse outcomes in systemic lupus erythematosus (SLE) and to compare its predictive ability to that of an existing clinical FI. Methods We used data from a single‐center prospective cohort of adult patients with SLE whose baseline visit ...
Grace Burns, Samuel D. Searle, Alexandra Legge   +2 more
wiley   +1 more source

Mixed Movement Disorder Caused by <i>ADCY5</i> Pathogenic Variant Successfully Treated With Caffeine: A Case From Ukraine. [PDF]

Case Rep Neurol Med
Tsoma E, Studeniak T, Jech R, Zech M, Havrankova P, Růžička E, Kunc L, Chomolyak Y.   +7 more
europepmc   +1 more source

Propofol Exposure Precipitating a Functional Movement Disorder: A Case Report. [PDF]

Case Rep Anesthesiol
Saad S, Ciardi F, Praschan N, Bungart B, Fettiplace M.   +4 more
europepmc   +1 more source

Individuals With Multijoint Osteoarthritis Demonstrate Larger Longitudinal Declines in Frailty: Data From the Canadian Longitudinal Study on Aging

Arthritis Care &Research, EarlyView.
Objective The aim of this study was to test the hypothesis that multijoint osteoarthritis would modify the relation between time and frailty progression, in which more affected joints would lead to larger declines over six years compared to those without osteoarthritis using data from the Canadian Longitudinal Study on Aging.
Carson Halliwell, Rebecca Moyer, Myles W. O'Brien   +2 more
wiley   +1 more source

Hypoxia ameliorates neurodegeneration and movement disorder in a mouse model of Parkinson's disease. [PDF]

Nat Neurosci
Marutani E, Miranda M, Durham TJ, Kim SH, Russell DL, Wiesenthal PP, Lichtenegger P, Menard MA, Brzozowski CF, Li H, Ruvkun G, Meisel JD, Volpicelli-Daley L, Mootha VK, Ichinose F.   +14 more
europepmc   +1 more source

Extending Service Beyond Active Duty: Generalizability of Rheumatoid Arthritis Research Conducted Among US Veterans

Arthritis Care &Research, EarlyView.
Biomedical research involving US veterans continues to advance health care beyond the Veterans Health Administration. This is particularly true in rheumatoid arthritis (RA), where veteran‐centric research has uncovered novel insights into pathogenesis, risk factors, and disease manifestations, informing clinical care and research across both veteran ...
Austin M. Wheeler, Joshua F. Baker, Jennifer L. Barton, Maria I. Danila, Tate M. Johnson, Kamini Kuchinad, Kaleb Michaud, Amir A. Razmjou, J. Steuart Richards, Namrata Singh, Isaac D. Smith, Katherine D. Wysham, Grant W. Cannon, Bryant R. England, Amy Joseph, Deana Lazaro, Katherine P. Liao, Courtney Loecker, Andreas Reimold, Beth I. Wallace, Ted R. Mikuls   +20 more
wiley   +1 more source