Results 181 to 190 of about 548,379 (312)

Differences in the evolutionary history of disease genes affected by dominant or recessive mutations [PDF]

Background: Global analyses of human disease genes by computational methods have yielded important advances in the understanding of human diseases. Generally these studies have treated the group of disease genes uniformly, thus ignoring the type of ...
López Bigas, Núria, Furney, Simon J., Albà Soler, Mar   +2 more
core  

Low-level mosaic variants causing the pancreatic disease congenital hyperinsulinism can be detected from blood DNA. [PDF]

EBioMedicine
Bennett JJ, Laver TW, Männistö JME, Houghton JAL, De Franco E, Kalyon O, Wright S, Johnson AM, De Leon DD, Globa E, Kummer S, Banerjee I, Dastamani A, International Congenital Hyperinsulinism Consortium, Wakeling MN, Johnson MB, Flanagan SE.   +16 more
europepmc   +1 more source

Blood RNA Biomarker Signatures for Early Diagnosis and Prognosis in Ischemic and Hemorrhagic Stroke: The IBIS‐CT1 Study

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective To evaluate the expression of nine blood RNA biomarkers in a clinical trial based on genes previously identified in an experimental monkey model of stroke for diagnosis feasibility and prognostication. Methods IBIS‐CT1 was a prospective longitudinal study enrolling patients with ischemic stroke (IS) or intracerebral hemorrhage (ICH ...
Salomé Retailleau, Marie Bruguet, Irina Viakhireva‐Dovganyuk, François‐Mathias Merrien, Denis Marechal, Aurore Jourdain, Philippe Goas, Jordan Coris, Julien Asselineau, Maëlys Consigny, Gérald Le Gac, Serge Timsit   +11 more
wiley   +1 more source

Neurologic Manifestations of Long COVID Affect Adult Females More Severely Than Males

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective To characterize differences in neurologic manifestations of postacute sequelae of SARS‐CoV‐2 infection (Neuro‐PASC) between females and males. Methods Cross‐sectional study of the first consecutive 261 posthospitalization Neuro‐PASC (PNP) and 2068 nonhospitalized Neuro‐PASC (NNP) patients evaluated at the Neuro‐COVID clinic between ...
Hannah Kopinsky, Melissa Lopez, Janet Miller, Millenia Jimenez, Eric M. Liotta, Igor J. Koralnik   +5 more
wiley   +1 more source

Population-scale genomic medicine with the Hong Kong Genome Project. [PDF]

Nat Med
Ying D, Cheung CL, O CK, Lam WKJ, Au Yeung SL, Lau CS, Luk HM, Leung CKS, Tse DMS, Liu JSC, Hue SPY, Kwok JSL, Yeung DLH, Preusch CB, Ma W, Tang W, Tong AHY, Au LWC, Chan JC, Chan YH, Cheng SSW, Chong SC, Fung CW, Ho S, Krishnamoorthy S, Leung GM, Li PH, Li Q, Loong HH, Lui RNS, Luo S, Ma BM, Ma RCW, Na R, Tan KCB, Wong SS, Lo SV, Hong Kong Genome Project, Chu ATW, Chung BHY.   +39 more
europepmc   +1 more source

Deep Learning Pose Estimation for Phenotyping of Co‐Occurring Hyperkinetic Movement Disorders

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective To explore whether routine outpatient video combined with deep learning‐based pose estimation and clinically interpretable kinematic features can support multi‐label phenotyping of co‐occurring hyperkinetic movement disorders (HMDs).
Laura Cif, Diane Demailly, Gabriella A. Horvàth, Juan Dario Ortigoza Escobar, Nathalie Dorison, Mayté Castro Jiménez, Cécile A. Hubsch, Thomas Wirth, Gun‐Marie Hariz, Sophie Huby, Morgan Dornadic, Zohra Souei, Muhammad Mushhood Ur Rehman, Simone Hemm, Mehdi Boulaymen, Eduardo M. Moraud, Jocelyne Bloch, Xavier Vasques   +17 more
wiley   +1 more source

Transcriptome assemblies for two drug-type cannabis chemotypes by long-read RNA sequencing. [PDF]

Plant Genome
Berkowitz O, Jost R, Ng S, Bacic A, Whelan J, Lewsey MG.   +5 more
europepmc   +1 more source

Natural Frequencies of Levodopa‐Induced Dyskinesia in Parkinson's Disease

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objectives Abnormal involuntary movements, known as dyskinesias, are common complications of levodopa treatment in patients with Parkinson's disease and can significantly impair quality of life. The underlying pathophysiology remains unclear, and current therapeutic options are limited.
Ioannis U. Isaias, Federica Avantaggiato, Gianni Pezzoli, Andrea Canessa   +3 more
wiley   +1 more source

Handgrip weakness is associated with motor cortex atrophy in rheumatoid arthritis: a cross-sectional study with a hand exercise intervention. [PDF]

BMC Med
Gustafsson AL, Heckemann RA, Erlandsson MC, Lundgren VM, Dai Z, Silfverswärd ST, Pullerits R, Bokarewa MI, Wasén C.   +8 more
europepmc   +1 more source

Integrated PANoptosis Profiling Identifies Immunosuppressive Subtypes and a Prognostic Signature With Functional Validation of MLKL in Glioblastoma

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective The prognosis of glioblastoma (GBM) remains highly unfavorable, largely due to high tumor heterogeneity and an immunosuppressive microenvironment. However, the functional role of PANoptosis in this context is poorly understood. Methods Patients were stratified via K‐means clustering. A risk score model was constructed using prognosis‐
Langfei Tian, Minghui Zhao, Yuanbo Hu, Kaiyue Wang, Haiguang Liu, Zetong Bai, Kebin Zheng   +6 more
wiley   +1 more source