Results 201 to 210 of about 838,497 (309)

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

Baseline Regional Cholinergic Denervation Predicts Cognitive Trajectories in Moderate Parkinson Disease

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Cognitive decline is a disabling and variable feature of Parkinson disease (PD). While cholinergic system degeneration is linked to cognitive impairments in PD, most prior research reported cross‐sectional associations. We aimed to fill this gap by investigating whether baseline regional cerebral vesicular acetylcholine transporter ...
Taylor Brown, Giulia Carli, Prabesh Kanel, Stiven Roytman, Jaimie Barr, Nicolaas I. Bohnen, Roger L. Albin   +6 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

Developmental and Epileptic Encephalopathy due to Biallelic Pathogenic Variants in PIGM

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective PIGM encodes a critical enzyme in the glycosylphosphatidylinositol (GPI)‐anchor biosynthesis pathway. While promoter‐region mutations in PIGM have been associated with a relatively mild phenotype characterized by portal vein thrombosis and absence seizures, recent evidence suggests that coding‐region mutations result in a more severe
Júlia Sala‐Coromina, Anna Marcé‐Grau, Barbara Masotto, Marta Codina, Lamia BenJemaa, Yasmina Elaribi, Mónica Martinez‐Gallo, Roger Colobran, Angel Sanchez‐Montañez, Irene Valenzuela, Yoshiko Murakami, Alfons Macaya   +11 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

A Classification of Quadratic Vector Functions [PDF]

Proceedings of the National Academy of Sciences, 1915
openaire   +2 more sources

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

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

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