Results 151 to 160 of about 784,063 (262)

FDG‐PET Associations With Disease Severity and Outcomes in NMDA‐Receptor IgG Autoimmune Encephalitis

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Background Patients with N‐methyl‐D‐aspartate (NMDA) receptor‐immunoglobulin G (IgG) autoimmune encephalitis (NMDAR‐IgG AE) demonstrate occipital lobe hypometabolism on baseline brain fluorodeoxyglucose‐positron emission tomography (bFDG‐PET).
Jonathan K. Lee, Jeffrey Lambe, Scott Johnson, Akua Abrah, Jennifer Bullen, Jeffrey A. Cohen, Tatchaporn Ongphichetmetha, Amy Kunchok   +7 more
wiley   +1 more source

Neurogenic Voiding Dysfunction in Spinal Cord Injury and Stroke: Urodynamic Evaluation, Functional Classification, and Therapeutic Strategies. [PDF]

Cureus
Sevilla Torres E, Soto-Junco EJ, Baizan Orias SD, Rojas Peláez A, Sáenz Araya D, Lizano Guevara F.   +5 more
europepmc   +1 more source

Functional Classification of the ATM Variant c.7157C>A and In Vitro Effects of Dexamethasone. [PDF]

Front Genet, 2021
Biagiotti S, Barone A, Aliano MP, Federici G, Malatesta M, Caputi C, Soddu S, Leuzzi V, Chessa L, Magnani M.   +9 more
europepmc   +1 more source

Epilepsy‐Associated Variants of a Single SCN1A Codon Exhibit Divergent Functional Properties

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Pathogenic variants in SCN1A, which encodes the voltage‐gated sodium channel NaV1.1, are associated with multiple epilepsy syndromes exhibiting a range of clinical severity. SCN1A variants are reported in different syndromes, including Dravet syndrome, which is associated with loss‐of‐function, whereas neonatal/infantile‐onset ...
Lanie N. Liebovitz, Christopher H. Thompson, Linda C. Laux, Alfred L. George Jr.   +3 more
wiley   +1 more source

Quality evaluation and functional classification of Arabic health apps: A systematic review. [PDF]

Digit Health
Abahussin AA, Alnakhibi AA, Alfulaij BM.
europepmc   +1 more source

Multidimensional Profiling of MRI‐Negative Temporal Lobe Epilepsy Uncovers Distinct Phenotypes

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Although hippocampal sclerosis (TLE‐HS) represents the most frequent cause of temporal lobe epilepsy (TLE), up to 30% of patients show no lesion on visual MRI inspection (TLE‐MRIneg). These cases pose diagnostic and therapeutic challenges and are underrepresented in surgical series.
Alice Ballerini, Alessia Casarini, Niccolò Biagioli, Laura Mirandola, Daniela Ballotta, Paul Summers, Simona Scolastico, Laura Madrassi, Maurilio Genovese, Marcella Malagoli, Gaetano Cantalupo, Giada Giovannini, Matteo Pugnaghi, Niccolò Orlandi, Laura Tassi, Valeria Cuccarini, Domenico Aquino, Elena Tartara, Fulvia Palesi, Giuseppe Didato, Paolo Vitali, the 3TLE Study Group, Roberta Di Giacomo, Fabio Doniselli, Federica Mazzi, Carlo Andrea Galimberti, Claudia A. M. Gandini Wheeler‐Kingshott, Stefano Meletti, Anna Elisabetta Vaudano   +28 more
wiley   +1 more source

Scalable generation and functional classification of genetic variants in inborn errors of immunity to accelerate clinical diagnosis and treatment. [PDF]

Cell
Walsh ZH, Frangieh CJ, Kothapalli N, Levy J, Heck CK, Melms JC, Gejman RS, Shah P, Pollard JM, Naik A, Grauman SL, Huang LH, Lee A, Bogunovic D, Milner JD, Izar B.   +15 more
europepmc   +1 more source

Functional classification and validation of yeast prenylation motifs using machine learning and genetic reporters. [PDF]

PLoS One, 2022
Berger BM, Yeung W, Goyal A, Zhou Z, Hildebrandt ER, Kannan N, Schmidt WK.   +6 more
europepmc   +1 more source

Innate Immune Reprogramming Mediated by Endogenous Retroelement Dysregulation Drives Multiple Sclerosis Progression

Annals of Clinical and Translational Neurology, EarlyView.
Epigenetic reprogramming in hematopoietic stem and progenitor cells (HSPCs) and downstream myeloid cells, mediated by H3.3 downregulation and endogenous retroelement (ERE) overexpression, contributes to the progression of multiple sclerosis (MS). ABSTRACT Background Skewed myelopoiesis in the bone marrow has been identified as a key driver of multiple ...
Li‐Mei Xiao, Qiu‐Ping Zhao, Run‐Yun Li, Wei Chen, Huan‐Huan Song, Wan‐Jin Chen, Ying Fu   +6 more
wiley   +1 more source

SPARTA: Interpretable functional classification of microbiomes and detection of hidden cumulative effects. [PDF]

PLoS Comput Biol
Ruiz B, Belcour A, Blanquart S, Buffet-Bataillon S, Le Huërou-Luron I, Siegel A, Le Cunff Y.   +6 more
europepmc   +1 more source