Results 61 to 70 of about 10,187 (227)
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
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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 +8 more
wiley +1 more source
Resolution of adult-onset cyclic esotropia
Journal of Clinical Ophthalmology and ResearchCyclic esotropia is a rare type of strabismus that has alternating periods of esotropia and orthotropia. We present the case of a 60-year-old male who complained of inward deviation of the right eye for 8–9 years with alternating periods of 12-h ...
Chasin Riamuk Roomching +1 more
doaj +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
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Surgical Correction of V-pattern Esotropia and Inferior Oblique Overaction in a Patient with Craniosynostosis [PDF]
, 2020 In Jeong Lyu
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Nance‐Horan Syndrome: Further Delineation of the Affected Male and the Female Carrier Phenotypes
American Journal of Medical Genetics Part A, Volume 200, Issue 3, Page 642-652, March 2026.ABSTRACT Nance‐Horan syndrome (NHS; OMIM 302350) is a rare, X‐linked syndrome characterized by bilateral congenital cataracts leading to profound vision loss, specific dental anomalies including characteristic screwdriver blade‐shaped incisors, facial anomalies, and intellectual disability.
Maria K. Haanpää +14 more
wiley +1 more source
New considerations about Duane's syndrome Novas considerações sobre a síndrome de Duane
Revista Brasileira de Oftalmologia, 2009 The author presents his arguments to state that the Duane's syndrome type III of the Huber's classification does not exist. He takes the chance of those arguments to show why the medial rectus muscle recession in Duane's syndrome with esotropia cripples ...
Carlos Ramos de Souza-Dias
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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 +18 more
wiley +1 more source
Cyclic Esotropia: Surgical Treatment Results of Two Cases
Türk Oftalmoloji Dergisi, 2014 Cyclic esotropia is a rare form of strabismus characterized by alternating periods of esotropia and orthophoric (or almost orthophoric) eye position. Herein, we discuss two children with cyclic esotropia and their surgical treatment results.
Serpil Akar +4 more
doaj +1 more source
Movement Disorders Clinical Practice, Volume 13, Issue 5, Page 1333-1335, May 2026.
Sayoni Roy Chowdhury +7 more
wiley +1 more source