Results 301 to 310 of about 4,605,994 (345)

Genetic analysis of thalassemia in putian: comparative insights into mutation spectra with other global regions. [PDF]

Ann Hematol
Yu L, Xu G, Chen Z, Lin K, Li J, Lin H.
europepmc   +1 more source

NOTCH2NLC Repeat Expansions in Parkinsonian Disorders: Clinical and Neuroimaging Characteristics

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Neuronal intranuclear inclusion disease (NIID) is a neurodegenerative disorder caused by NOTCH2NLC GGC repeat expansions, with heterogeneous clinical manifestations, including parkinsonism. Recent studies have identified NOTCH2NLC repeat expansions in patients with Parkinson's disease (PD) and atypical parkinsonism (aPM), suggesting ...
Han‐Lin Chiang, Kang‐Yang Jih, Cheng‐Tsung Hsiao, Fu‐Pang Chang, Justus Chunyu Chen, Yi‐Chu Liao, Yih‐Ru Wu, Yi‐Chung Lee   +7 more
wiley   +1 more source

Simultaneously determining regional heterogeneity and connection directionality from neural activity and symmetric connection. [PDF]

PLoS Comput Biol
Chang J, Yang Z, Zhou C.
europepmc   +1 more source

Central Dysmyelination in SSADH‐Deficient Humans and Mice

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objectives Succinic semialdehyde dehydrogenase deficiency (SSADHD) is an inherited metabolic disorder characterized by an accumulation of γ‐aminobutyric (GABA). In addition to its synaptic role as an inhibitory neurotransmitter, GABA also plays an important role in myelination.
Itay Tokatly Latzer, Henry H. C. Lee, Edward Yang, Cesar Alves, Mariarita Bertoldi, Caitlyn Fung, Spencer V. Steele, Eren Kule, Zijie Jin, Alexander Rotenberg, Jean‐Baptiste Roullet, Phillip L. Pearl   +11 more
wiley   +1 more source

Enhanced stratification of male pattern hair loss using AI through novel loss region ratio analysis. [PDF]

Sci Rep
Xi H, Yuan X, Yuan H, Lin K, Wang C, Wang Z, Zhang J.   +6 more
europepmc   +1 more source

Super-Resolved Spatial Transcriptomics Reveals Early Changes in RNA Localization in the 5xFAD Hippocampus

Diamant Karasik Y, Eger H, Goldberg T, Seri Y, Schottlender N, Ben Mor T, Safra M, Shenhav M, Zak H, Danino M, Rosenberg Y, Glick A, Feldman N, Slater N, Gottfried I, Ashery U, Alon S.   +16 more
europepmc   +1 more source

Developmental arrest of astrocyte lineage in Snai2 deletion mice: implication for the intellectual disability in patients with Waardenburg syndrome. [PDF]

Transl Psychiatry
Xue C, Xu H, Huang X, Su M, He L, Zhang G, Lin Z, Li H, Hong X, Chen S, Dai Z, Cai T, Chen C, Lin Y, Zhang G, Luo W.   +15 more
europepmc   +1 more source

Host-parasite interaction in latent cerebral toxoplasmosis: The role of cytokine response in a mouse model. [PDF]

Open Vet J
Anteplioğlu T, Türkmen MB, Eser E, Okatan D, Kul O.   +4 more
europepmc   +1 more source

Insights into the multifunctionality of viral glycoproteins F and HN in the lifecycle and pathogenesis of Newcastle disease virus: a systematic review. [PDF]

Vet Res
Ma S, Xia R, Wu W, Duan Z.
europepmc   +1 more source

A novel capsular operon and potentially conjugative plasmids in extensively drug-resistant urogenital <i>Haemophilus parainfluenzae</i>. [PDF]

Front Microbiol
Saiz-Escobedo L, Ballestero-Tellez M, Rajadell M, Garreta-Esteban M, Gisbert L, Cadenas-Jiménez I, Costa RM, Tubau F, Sánchez-Ramos D, Domínguez MA, Xanthopoulou K, Higgins PG, Ardanuy C, González-Díaz A, Marti S.   +14 more
europepmc   +1 more source