Results 31 to 40 of about 1,817 (190)

First Revision of the Guidelines for the Diagnosis and Management of Remethylation Disorders

Journal of Inherited Metabolic Disease, Volume 49, Issue 4, July 2026.
ABSTRACT This guideline summarizes diagnostic and therapeutic approaches based on a systematic literature review and evidence evaluation using the GRADE methodology. Given the limited high‐quality data, expert consensus was additionally obtained through a modified Delphi process.
Giorgia Olivieri, Andrea Bordugo, Birute Burnyte, Alessandro Costetti, Maria‐Luz Couce, Luisa Diogo, Francois Feillet, D. Sean Froese, Benedetta Greco, Jean‐Louis Gueant, Luciana Hannibal, Friederike Hörster, Viktor Kožich, Giancarlo La Marca, Irini Manoli, Fanny Mochel, Lorenzo Orazi, Belén Pérez, Manuel Schiff, Bernd C. Schwahn, Ida Schwartz, Karolina M. Stepien, Jolanta Sykut‐Cegielska, Trine Tangeraas, Rolf H. Zetterström, Carlo Dionisi‐Vici, Martina Huemer   +26 more
wiley   +1 more source

Oscillopsia and the influence of stress and motivation in fusion maldevelopment nystagmus syndrome

, 2022
Purpose. We examined factors influencing perceptual stability in observers with fusion maldevelopment nystagmus syndrome (FMNS). In addition, we also investigated the effect of visual demand, task-related physiologic stress, and motivation on the ...
K M Cham (13389750), A J Anderson (13440159), Larry Abel (13056207)   +2 more
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Nicotine Exposure During Pregnancy and Postnatal Cognitive Outcomes: A Systematic Review and Meta‐Analysis

Acta Paediatrica, Volume 115, Issue 7, Page 1413-1428, July 2026.
ABSTRACT Aim Nicotine exposure during pregnancy interferes with critical periods of foetal brain development, disrupting the timing and functioning of neurodevelopment. This systematic review and meta‐analysis aims to evaluate the effect of prenatal nicotine exposure on postnatal cognitive outcomes.
Deimantė Baguckaitė, Judith Covey, Nadja Reissland   +2 more
wiley   +1 more source

Posterior staphyloma with congenital stationary night blindness

, 2022
Posterior staphyloma, typically found in highly myopic eyes, may rarely be present in the absence of high myopia, in the context of various inherited degenerative diseases such as rod-cone dystrophy, Leber’s congenital amaurosis or retinitis pigmentosa ...
Vilain, Catheline, Postolache, Lavinia, Hemptinne, Coralie   +2 more
core   +1 more source

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

Treatment of Nystagmus and Saccadic Oscillations

, 2012
Nystagmus is often encountered in neuro-ophthalmic practice, having a prevalence of about 24 per 10,000 in the general population. Unlike physiologic nystagmus, where the slow phases of nystagmus serve to minimize retinal image slip, the slow phases of ...
Matthew Thurtell, Mbbs, fRaCP
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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

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

Clinical Spectrum, Heteroplasmy‐Phenotype Correlation, and Prognosis of the MT‐ND3 m.10191 T > C Mutation

CNS Neuroscience &Therapeutics, Volume 32, Issue 6, June 2026.
This study presents the largest cohort of patients with the m.10191 T > C mutation to date, delineating a continuous spectrum from LS to MELAS‐like phenotypes and systematically characterizing clinical manifestations, neuroimaging features, heteroplasmy–phenotype correlations, and prognostic factors.
Zimeng He, Huafang Jiang, Tongyue Li, Yang Liu, Ying Zou, Chaolong Xu, Zhimei Liu, Danmin Shen, Ruoyu Duan, Minhan Song, Yunxi Zhang, Zixuan Zhang, Mingxi Sun, Rui Shen, Hong Xue, Fang Fang   +15 more
wiley   +1 more source

Walsh & Hoyt: Gaze-Evoked Nystagmus

, 2005
Nystagmus that is induced by turning the eye to an eccentric position in the orbit is called gaze-evoked nystagmus. It is the most common form of nystagmus encountered in clinical practice.
John R. Leigh, MD; Janet C. Rucker, MD
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