Results 261 to 270 of about 16,279,971 (280)

Novel Phenotypes and Deep Intronic Variant Expand TH‐Associated Dopa‐Responsive Dystonia Spectrum

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Approximately 20% of dopa‐responsive dystonia (DRD) cases remain genetically unresolved. Using whole‐genome sequencing, we identified two TH variants in a young DRD patient, including a novel deep intronic variant. Minigene assays confirmed that this variant causes aberrant splicing.
Xiaosheng Zheng, Chenxin Ying, Nan Jin, Jinghong Ma, Xinhua Wan, Xunhua Li, Wei Luo   +6 more
wiley   +1 more source

Health facility-based prevalence of typhoid fever, typhus and malaria among individuals suspected of acute febrile illnesses in Southwest Region, Ethiopia. [PDF]

Front Epidemiol
Abayneh M, Aberad M, Habtemariam Y, Alemu Y.   +3 more
europepmc   +1 more source

FGF14 GAA Intronic Expansion in Unsolved Adult‐Onset Ataxia in the Care4Rare Canada Consortium

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Background and Objectives Spinocerebellar ataxias (SCA) represent a clinically and genetically heterogeneous group of progressive neurodegenerative diseases with prominent cerebellar atrophy. Recently, a novel pathogenic repeat expansion in intron 1 of FGF14 was identified, causing adult‐onset SCA (SCA27B). We aimed to determine the proportion
Alexanne Cuillerier, Giulia F. Del Gobbo, Layla Mackay, Erika Wall, Madeline Couse, Laura M. McDonell, Mireille Cloutier, Matt C. Danzi, Jodi Warman‐Chardon, Pierre R. Bourque, Oksana Suchowersky, Alan Mears, Luke Seldenthuis, Wendy Mears, Laura Larrigan, Alexandre White‐Brown, Gerald Pfeffer, Dennis E. Bulman, David Dyment, Care4Rare Canada Consortium, Kym M. Boycott   +20 more
wiley   +1 more source

Complicated infective endocarditis of the bioprosthetic mitral valve following the transcatheter mitral valve-in-valve procedure: a case report and literature review. [PDF]

Eur Heart J Case Rep
Sahebjam M, Karimi Y, Fallah F.
europepmc   +1 more source

Clinical Phenotyping of Long COVID Patients Evaluated in a Specialized Neuro‐COVID Clinic

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective To report Long COVID characteristics and longitudinal courses of patients evaluated between 4/14/21–4/14/22 at the University of Pennsylvania Neurological COVID Clinic (PNCC), including clinical symptoms, neurological examination findings, and neurocognitive screening tests from a standardized PNCC neurological evaluation approach ...
Luana D. Yamashita, Neel Desai, Abigail R. Manning, Caitlin Pileggi, Sara Manning Peskin, Danielle K. Sandsmark, Dennis L. Kolson, Matthew K. Schindler   +7 more
wiley   +1 more source

Epidemiology, Clinical Manifestations, Treatment, and Outcome of Mucormycosis: A Review of 77 Cases From a Single Center in France. [PDF]

Open Forum Infect Dis
Denis B, Resche-Rigon M, Raffoux E, Ronchetti AM, Dudoignon E, Verillaud B, Valade S, Lorillon G, Rabian F, Xhaard A, Touratier S, Hamane S, Alanio A, De Castro N.   +13 more
europepmc   +1 more source

Universal Proteomic Signature After Exercise‐Induced Muscle Injury in Muscular Dystrophies

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Several neuromuscular disorders (NMDs) are characterized by progressive muscle damage and are marked by the elevation of circulating muscle proteins from activity‐related injury. Despite a diverse array of genetic drivers, many NMDs share similar patterns of exercise intolerance and higher concentrations of muscle injury proteins ...
Mads G. Stemmerik, Benjamin Barthel, Nanna R. Andersen, Sofie V. Skriver, Alan J. Russell, John Vissing   +5 more
wiley   +1 more source

Impaired Regulation of Emotion in Bipolar I Disorder: Behavioral and Neurophysiological Signatures. [PDF]

NeuroSci
Carminati M, Isel F, Houenou J, Wessa M, Henry C.   +4 more
europepmc   +1 more source

EEG Spectral Exponents and Visual Chirp Responses Mirror Anti‐Seizure Medication Load in Refractory Focal Epilepsy

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Quantitative markers of cortical excitability may help identify responders to anti‐seizure medications (ASMs). We studied the relationship between ASM load and two electroencephalography (EEG) markers of cortical excitability in people with refractory epilepsy. Methods We included individuals with refractory focal epilepsy undergoing
Silvano R. Gefferie, Arthur R. van Nieuw Amerongen, Gerhard H. Visser, Maeike Zijlmans, Else A. Tolner, Mark van de Ruit, Arn M. J. M. van den Maagdenberg, Roland D. Thijs   +7 more
wiley   +1 more source

Relationships between cognition, functioning, and quality of life of euthymic patients with bipolar disorder: Structural equation modeling with the FACE-BD cohort. [PDF]

Eur Psychiatry
Roux P, Frileux S, Vidal N, Aubin V, Belzeaux R, Courtet P, Dubertret C, Etain B, Haffen E, Leboyer M, Lefrere A, Llorca PM, M'Bailara K, Marlinge E, Olié E, Polosan M, Schwan R, FACE-BD (FondaMental Academic Centers of Expertise for Bipolar Disorders) group, Brunet-Gouet E, Passerieux C.   +19 more
europepmc   +1 more source