Results 231 to 240 of about 2,120,585 (276)

Age‐Related Characteristics of SYT1‐Associated Neurodevelopmental Disorder

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objectives We describe the clinical manifestations and developmental abilities of individuals with SYT1‐associated neurodevelopmental disorder (Baker‐Gordon syndrome) from infancy to adulthood. We further describe the neuroradiological and electrophysiological characteristics of the condition at different ages, and explore the associations ...
Sam G. Norwitz, Josefine Eck, Joel S. Winston, Kate Baker   +3 more
wiley   +1 more source

Characterization and Genomic Analysis of <i>Pasteurella multocida</i> NQ01 Isolated from Yak in China. [PDF]

Animals (Basel)
Li K, Yuan H, Jin C, Rahim MF, Luosong X, An T, Li J.   +6 more
europepmc   +1 more source

Developmental, Neuroanatomical and Cellular Expression of Genes Causing Dystonia

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Dystonia is one of the most common movement disorders, with variants in multiple genes identified as causative. However, an understanding of which developmental stages, brain regions, and cell types are most relevant is crucial for developing relevant disease models and therapeutics.
Darren Cameron, Nicholas E. Clifton, Daniel Cabezas de la Fuente, Peter Holmans, Nicholas J. Bray, Kathryn J. Peall   +5 more
wiley   +1 more source

Comparative genomic analysis of hydrogen peroxide and nitric oxide metabolic pathways in Limosilactobacillus fermentum. [PDF]

Sci Rep
Eom JH, Cho MY, Choi EM, Kim JW, Yang SJ, Hwang J, Hwang I, Lee D, Kim YY, Kim HS, Baek H, Kim SJ.   +11 more
europepmc   +1 more source

Super‐Refractory Status Epilepticus (SRSE) in a Patient With Compound Heterozygous OPA1 Variants: Case Report and Literature Review

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Super‐Refractory Status Epilepticus (SRSE) is a rare, life‐threatening neurological emergency with unclear etiology in many cases. Mitochondrial dysfunction, often due to disease‐causing genetic variants, is increasingly recognized as a cause, with each gene producing distinct pathophysiological mechanisms.
Pouria Mohammadi, Lara Basovic, Christopher Michael McGraw   +2 more
wiley   +1 more source

A Comprehensive Genomic Analysis of Nucleophosmin (NPM1) in Acute Myeloid Leukemia. [PDF]

Cancers (Basel)
Batayneh O, Moein M, Goodman A, Desai D, Pavlick D, Marcus C, Ho C, Madison R, Huang RSP, Ross JS, Gentile T, Zhou Z, Ghimire KB.   +12 more
europepmc   +1 more source

Genomic analysis of <i>Ostreococcus tauri</i>-infecting viruses reveals a hypervariable region associated with host-virus interactions. [PDF]

Virus Evol
Thomy J, Henri J, Demory D, Sanchez F, Escande ML, Mirambeau G, Grimsley N, Yau S.   +7 more
europepmc   +1 more source

Population genomic analysis of Weining chicken via dd-RAD sequencing: Unraveling diversity, structure, and selective sweeps. [PDF]

Poult Sci
Ai Z, Zhao Z, Zhang X, Yang R, Zhang Y, Chen Z, Li W, Ou Y, Lei L, Ye H.   +9 more
europepmc   +1 more source

Exploration of the Donors and Specific Genes of B Subgenome in <i>Perilla frutescens</i> Based on Genomic Analysis. [PDF]

Plants (Basel)
Li Z, Wang B, Wei W, Liu Y, Wang Q, Gao Z, Wei J.   +6 more
europepmc   +1 more source

Biological characterization and genomic analysis of the newly discovered mycobacteriophage WST1. [PDF]

BMC Microbiol
Tan X, Zhang X, He Z, Luo Z, An N, Ye K, Ke D, Li Y, Zeng J.   +8 more
europepmc   +1 more source