Results 191 to 200 of about 79,532 (296)
A 57‐Year‐Old Male With Behavioral Variant Frontotemporal Dementia and MATR3 and NOS3 Mutations
ABSTRACT This report presents a case of behavioral variant frontotemporal dementia caused by mutations in the MATR3 and NOS3 genes, aiming to analyze its clinical manifestations and genetic characteristics. For a case presenting with personality changes and gait abnormalities as the initial symptoms, this study conducted a comprehensive analysis of its
Feifei Lin, Saie Huang
wiley +1 more source
ABSTRACT Background Factors associated with relapse course and disability in myelin oligodendrocyte glycoprotein antibody‐associated disease (MOGAD) remain incompletely understood. Objectives To identify clinical and modifiable factors associated with relapse and disability in MOGAD. Methods In this ambispective multicentre cohort study using data from
Yingtao Wang +23 more
wiley +1 more source
Autonomic and baroreflex regulations in syndromic and non-syndromic aortopathies: a case-control study. [PDF]
Cairo B +8 more
europepmc +1 more source
Bi‐ and Mono‐Allelic RFC1 Expansion in a North American Cohort With Idiopathic Axonal Neuropathy
ABSTRACT Objective RFC1 biallelic repeat expansion is increasingly recognized as a cause of chronic idiopathic axonal polyneuropathy (CIAP), but it remains challenging to know who to test. This study aims to determine the prevalence of biallelic and monoallelic RFC1 expansions and their corresponding neuropathy phenotypes in CIAP patients and identify ...
Amro M. Stino +25 more
wiley +1 more source
Study Models for Non-Syndromic Hearing Loss. [PDF]
Hoyau V, Leclère JC, Moisan S.
europepmc +1 more source
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 +11 more
wiley +1 more source
Trends and insights in non-syndromic craniosynostosis research globally: a bibliometric analysis of the Web of Science database (2005-2024). [PDF]
Chen S, Liu W, Yang R, Kong L, Shen W.
europepmc +1 more source
ABSTRACT Objective To determine whether myelin‐sensitive quantitative MRI reveals microstructural abnormalities in normal‐appearing cortex (NACtx) in myelin oligodendrocyte glycoprotein antibody–associated disease (MOGAD), indicating that conventional MRI underestimates remission residual cortical injury.
Valentina Camera +20 more
wiley +1 more source
Non-Syndromic or Anomaly-Associated Genes (MYH3, GREM1, IRF6) and Their Proteins in Unilateral Right Cleft Tissue. [PDF]
Rone AE, Junga A, Akota I, Pilmane M.
europepmc +1 more source
Growth factor analysis in children with non-syndromic orofacial clefts: a systematic review. [PDF]
Huqh MZU +7 more
europepmc +1 more source

