Results 101 to 110 of about 17,947 (227)

Exploring the Impact of RNU4‐2 Defects on Neurodevelopmental Disorders in a Korean Population

Clinical Genetics, Volume 110, Issue 1, Page 90-95, July 2026.
Among 15 450 Korean individuals, noncoding RNU4‐2 variants, primarily the recurrent de novo n.64_65insT, make up 0.72% of neurodevelopmental disorders. Modeling and RNA‐seq suggest U4/U6 disruption and abnormal 5′ splice‐site selection, supporting routine use of WGS analysis for reanalyzing unresolved cases. ABSTRACT Neurodevelopmental disorders (NDDs)
Juhyeon Hong, Seungbok Lee, Soo Yeon Kim, Taekeun Kim, Woong‐Hee Shin, Sesong Jang, Ji‐Hwan Park, Dongmin Jang, Gunwoo Park, Jong Ho Cha, Jae So Cho, Anna Cho, Hunmin Kim, Hyewon Woo, Jon Soo Kim, Byung Chan Lim, Ji Eun Lee, Myungshin Kim, Chong Kun Cheon, Jungmin Choi, Jong‐Hee Chae   +20 more
wiley   +1 more source

The Utriculo-Ocular Motor Pathways - Physiologic and Pathologic Ocular Tilt Reaction: Pathologic OTR (Figure 2)

, 2018
A skew deviation is a non-paralytic vertical ocular misalignment that is due to imbalance in the utriculo-ocular motor pathways. While vestibular jerk nystagmus is a consequence of static semicircular canal pathway imbalance (e.g., left-beating nystagmus
Daniel R. Gold, DO
core  

Rapid Response to Trametinib Combined With Chemotherapy for Infant BRAF‐Fused Chiasmatic Glioma

Pediatric Blood &Cancer, Volume 73, Issue 6, June 2026.
ABSTRACT Infants, less than 1 year, with chiasmatic gliomas (ICG) present a major therapeutic challenge due to large tumor size, decreased vision, rapid progression, and poor response to vincristine/carboplatin chemotherapy. The majority have a BRAF fusion, which may respond to downstream MEK inhibitors but response time is slow. There are no safety or
Helen Toledano, Alexander Yelak, Walid Kaadan, Shlomo Caduri, Rivka Friedland, Orli Michaeli, Gad Dotan, Osnat Konen   +7 more
wiley   +1 more source

The Utriculo-Ocular Motor Pathways - Physiologic and Pathologic Ocular Tilt Reaction: OTR Diagram Pathologic EOMs Labelled (Figure 3)

, 2018
A skew deviation is a non-paralytic vertical ocular misalignment that is due to imbalance in the utriculo-ocular motor pathways. While vestibular jerk nystagmus is a consequence of static semicircular canal pathway imbalance (e.g., left-beating nystagmus
Daniel R. Gold, DO
core  

A Novel Gain‐of‐Function ITPR1 Variant Associated With a Movement Disorder Characterized by Tremor and Dystonia

American Journal of Medical Genetics Part A, Volume 200, Issue 6, Page 1261-1266, June 2026.
ABSTRACT The 1,4,5‐trisphosphate receptor type 1 (ITPR1) gene encodes an endoplasmic reticulum calcium release channel, in which loss‐of‐function mutations have been associated with spinocerebellar ataxias and related neurological phenotypes. Only one gain‐of‐function mutation in the highly conserved suppressor domain of ITPR1 has been previously ...
Emilie T. Théberge, Bo Sun, Ruiwu Wang, Arezoo Mohajeri, Clara D. M. Van Karnebeek, Cornelius F. Boerkoel, Stephanie Huynh, Gabriella Horvath, S. R. Wayne Chen, Anna Lehman   +9 more
wiley   +1 more source

Atypical posterior canal benign paroxysmal positional vertigo mimicking anterior canal involvement: a case series and review of the literature. [PDF]

J Med Case Rep
Ajeti R, Ajeti A.
europepmc   +1 more source

Nistagmo: fisiopatología y características clínicas

, 2015
El nistagmo es una oscilación, rítmica e involuntaria, de los ojos. Al encontrar esta condición es un paciente es importante conocer y comprender los mecanismos por los que el nistagmo puede ocurrir, pero antes que eso, es fundamental conocer los ...
Sánchez Espinosa, Jenny Maritza
core  

Genetic Variants and Clinical Characteristics of Young‐Onset Parkinson's Disease in the Hakka Population of Western Fujian

Brain and Behavior, Volume 16, Issue 6, June 2026.
In 33 Hakka young‐onset Parkinson's disease (YOPD) patients from western Fujian, whole exome sequencing (WES) plus spinocerebellar ataxia (SCA) panel testing and multiplex ligation‐dependent probe amplification (MLPA) defined the genetic spectrum. Pathological ATXN2 repeat expansion was detected in two cases.
Li‐Ying Pan, Fang Guo, Chong Zheng, Xiao‐Hong Hu, Yan‐Gui Chen, Rong‐Rong Lin   +5 more
wiley   +1 more source

Visually Guided Saccades in Amblyopia and Strabismus: The Roles of Sensory Deficits and Nystagmus. [PDF]

Invest Ophthalmol Vis Sci
Quagraine I, Cakir B, Mandava A, Murray J, Albirini Z, Shaikh A, Ghasia F.   +6 more
europepmc   +1 more source

Falls and Fear of Falling in Minor Stroke Patients With Vestibular Symptoms: A Longitudinal Observational Study

Brain and Behavior, Volume 16, Issue 6, June 2026.
This prospective study reveals that persistent vestibular symptoms, cerebral small vessel disease, and anxiety/depression predict long‐term fall risk in minor stroke patients. Early identification and intervention within the first 3 months poststroke may help mitigate balance impairment and improve outcomes.
Yao Zhong, Jiaokun Jia, Jiashu Li, Ruixuan Jiang, Xingquan Zhao, Yi Ju   +5 more
wiley   +1 more source