Results 171 to 180 of about 214,123 (285)

Analysis of Strabismus Surgical Outcomes: A Retrospective Study of 2269 Cases from a Single Center. [PDF]

Med Sci Monit
Wu H, Liu H.
europepmc   +1 more source

Results From a Phase 2, Open‐Label Study Evaluating the Safety, Tolerability, and Effect on Ataxia of GLM101 in Three Adult Patients With PMM2‐CDG

Journal of Inherited Metabolic Disease, Volume 49, Issue 5, September 2026.
ABSTRACT Phosphomannomutase 2 congenital disorder of glycosylation (PMM2‐CDG) is a rare, autosomal recessive disease caused by PMM2 deficiency, which impairs conversion of mannose‐6‐phosphate into mannose‐1‐phosphate (M1P) and disrupts N‐linked glycosylation.
Mercedes Serrano, Florencia Epifani, Rose Marino, Peter McWilliams   +3 more
wiley   +1 more source

Altered Spontaneous Brain Activity in Adolescents and Adults with Comitant Strabismus and Strabismic Amblyopia. [PDF]

Ophthalmol Sci
Huang Y, Liu Z, Wu Y, Deng D, Yu M.
europepmc   +1 more source

A novel OPHN1 variant associated with cyclic strabismus but in the absence of OPHN1 syndrome. [PDF]

Sci Rep
Nishina S, Kofuji S, Matsubara K, Anzai H, Hirakata K, Hanazono Y, Okamoto-Uchida Y, Hirayama J, Ito N, Fukami M, Nishina H.   +10 more
europepmc   +1 more source

Clinical and Genetic Analysis of Pediatric Neurodevelopmental Disorders With Complex Chromosomal Rearrangements in Two Cases

Molecular Genetics &Genomic Medicine, Volume 14, Issue 9, September 2026.
This study investigates the impact of complex chromosomal rearrangement (CCR) breakpoints on pediatric developmental delay and epilepsy. By integrating karyotype analysis with WES and/or WGS, we identified an inversion on chromosome 3 likely affecting ROBO1/DNAJC13/ACAD11 in one patient and a complex chromosome 1 rearrangement with a novel KCNA2 ...
Jiaci Li, Wenxuan Fan, Nan Liu, Shuyue Zhang, Ping Wang, Chunyu Gu, Jianbo Shu   +6 more
wiley   +1 more source

Clinical profile and associated sociodemographic factors of newly diagnosed strabismus presenting to a tertiary care center in India. [PDF]

Indian J Ophthalmol
Jaluthariya C, Kaur S, Sukhija J, Chaurasia S, Raj S.   +4 more
europepmc   +1 more source

Monoallelic SH2B1 Variants in Neurodevelopmental Disorders: Phenotypic Expansion and Functional Characterization of Rare Variants

Molecular Genetics &Genomic Medicine, Volume 14, Issue 9, September 2026.
This study delineates the clinical spectrum associated with rare monoallelic SH2B1 variants in individuals with NDDs. Functional analyses suggest variant‐specific effects on protein expression, subcellular localization, and ERK signaling responses.
Xin Xu, Gege Yuan, Bixia Zheng, Chunli Wang, Wei Zhou, Songming Huang, Senjie Du, Yikang He   +7 more
wiley   +1 more source

Resting-State Brain Activity, Functional Connectivity, and Orbital Imaging Changes in Restrictive Myopathy Associated with Thyroid Eye Disease. [PDF]

Eye Brain
Zhang H, Fang Z, Xia D, Liang S, Wang Y, Jiang M, Tao X, Li Y, Sun J, Liu X, Zhou H.   +10 more
europepmc   +1 more source

AGRN‐, LRP4‐, MUSK‐Related CMS: Clinical, Neurophysiological, Morphological, Genetic and Pathological Mechanisms

Muscle &Nerve, Volume 74, Issue S1, Page S31-S40, September 2026.
ABSTRACT Congenital myasthenic syndromes (CMS) are inherited disorders caused by mutations in genes encoding proteins essential for neuromuscular junction (NMJ) function. Pathogenic variants have been identified in more than 35 genes, underscoring the complexity of synaptic biology and the wide range of mechanisms that can compromise neuromuscular ...
Rocio‐Nur Villar‐Quiles, Damien Sternberg, Marie‐Christine Nougues, Arnaud Isapof, Bruno Eymard, Stéphanie Bauché   +5 more
wiley   +1 more source

Congenital encephalomeningocele presenting as a giant orbital mass in a neonate: a case report. [PDF]

BMC Ophthalmol
Chen X, Ni Y, Zhan C.
europepmc   +1 more source