Results 61 to 70 of about 847,078 (155)

Age‐Related Characteristics of SYT1‐Associated Neurodevelopmental Disorder

Annals of Clinical and Translational Neurology, Volume 13, Issue 5, Page 875-887, May 2026.
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

Novel LAMA1 Mutations in a Pedigree With Poretti‐Boltshauser Syndrome: Implications for Hypomyelination

Molecular Genetics &Genomic Medicine, Volume 14, Issue 5, May 2026.
This study reports novel compound heterozygous LAMA1 variants in two siblings with Poretti‐Boltshauser syndrome presenting with cerebral hypomyelination. It provides the first clinical evidence linking LAMA1 to CNS dysmyelination, expanding the phenotypic spectrum and offering mechanistic insights into this rare association. ABSTRACT Background Poretti‐
Si Huang, Yiyang Li, Jing Xin, Wenhui Mo, Xiuwen Lin, Bingbin Mai, Junbin He, Xiaoli Zhong, Jiaxin Xu   +8 more
wiley   +1 more source

Early onset of acquired comitant non-accommodative esotropia in childhood

, 2012
Background: The aim of this study was to describe the clinical characteristics and surgical outcome of acquired comitant non-accommodative esotropia without obvious cause in children with an early onset ≤ three years of age.
Schoeffler, C, Töteberg, M, Sturm, V, Jaggi, G P, Menke, M N   +4 more
core   +1 more source

Electro‐clinical features of Mowat–Wilson syndrome: A retrospective study of 31 children in mainland China

Epileptic Disorders, Volume 28, Issue 2, Page 344-358, April 2026.
Abstract Objective To summarize the electro‐clinical and genetic characteristics of children with Mowat–Wilson syndrome (MWS). Methods This study is a hospital‐based case series analyzing clinical data from 31 pediatric patients with MWS and epilepsy treated at Peking University First Hospital between June 2020 and December 2024.
Yi Ju, Tao‐yun Ji
wiley   +1 more source

Herpes Zoster Ophthalmicus and Lateral Rectus Palsy in an Elderly Patient

Case Reports in Ophthalmology, 2011
Acquired palsy of the lateral rectus presents with horizontal diplopia and has a broad differential. Herpes zoster ophthalmicus- (HZO) related cranial nerve palsy is a transient and self-limiting condition. Systemic antiviral treatment is administered in
Ozgur Yalcinbayir, Meral Yildiz, Gamze Ucan Gunduz, Oner Gelisken   +3 more
doaj   +1 more source

Non-adjustable surgery for acute acquired comitant esotropia under general anesthesia

BMC Ophthalmology, 2022
Purpose: To investigate the surgical results of the non-adjustable suture technique under general anesthesia for the correction of acute acquired comitant esotropia. Study design: Retrospective case study.
Soo Hyun Lim, Yoon Gon Lee, Ungsoo Samuel Kim   +2 more
doaj   +1 more source

Human CNTNAP1 Variants Associated With Severe Neurological Deficits: Additional Cases and Literature Review

Muscle &Nerve, Volume 73, Issue 4, Page 517-526, April 2026.
ABSTRACT CNTNAP1 encodes the Contactin‐Associated Protein 1 (CNTNAP1), also known as Caspr1, which is a transmembrane protein critical for nervous system function. CNTNAP1 is localized to the paranodal regions of all myelinated axons, flanking either side of the node of Ranvier.
Lacey B. Sell, Derek Garcia, Alexandra Hollá, Ilana Chilton, Seth DeVries, Ana María Gómez‐Moreno, Manuel Lubián‐Gutiérrez, Qian Shi, Manzoor A. Bhat   +8 more
wiley   +1 more source

Reoperation in congenital and essential acquired non acomodative esotropia [PDF]

, 2011
PURPOSE: To analyze the results in patients reoperated from congenital and essential esotropia. METHODS: A retrospective chart review of 393 patients who underwent surgery from 2000-2004 was performed.
Marques, Adele Christina Manso, Ferreira Pinto, Janine Radd, Ejzenbaum, Fábio [UNIFESP], Souza-dias, Carlos Ramos, Goldchmit, Mauro   +4 more
core   +1 more source

Vision screening of Greenlandic children evaluating efficacy, coverage and future directions

Acta Ophthalmologica, Volume 104, Issue S290, Page S4-S24, April 2026.
ENGLISH SUMMARY This thesis presents a comprehensive analysis of vision screening of children in Greenland, focusing on the efficacy of the current programme for six‐year‐old schoolchildren, the prevalence of vision impairment, amblyopia and refractive errors among six‐ and four‐year‐old children and the evaluation of a new screening method for ...
Nick Duelund
wiley   +1 more source

Clinical and Genetic Characteristics of Free Sialic Acid Storage Disorder

Journal of Inherited Metabolic Disease, Volume 49, Issue 2, March 2026.
ABSTRACT Free sialic acid storage disorder (FSASD) is a lysosomal storage disorder that results from biallelic pathogenic variants in the SLC17A5 gene. This gene codes for sialin, a 12‐transmembrane domain protein that exports the charged sugar N‐acetylneuraminic acid (Neu5Ac; sialic acid) out of the lysosome.
Zoe Wolfenson, Gabriella Grois, Ruth F. Hailemeskel, Marla Sabaii, Laryssa A. Huryn, Wadih M. Zein, Tanya Lehky, Audrey Thurm, Lisa Joseph, Eva H. Baker, Gilbert Vezina, Keith Hyland, Laura Pollard, Ellen Macnamara, Andrea Gropman, May C. Malicdan, William A. Gahl, David R. Adams, Lynne Wolfe   +18 more
wiley   +1 more source