Results 41 to 50 of about 2,915 (182)

Validity of low-contrast letter acuity as a visual performance outcome measure for multiple sclerosis. [PDF]

, 2017
Low-contrast letter acuity (LCLA) has emerged as the leading outcome measure to assess visual disability in multiple sclerosis (MS) research. As visual dysfunction is one of the most common manifestations of MS, sensitive visual outcome measures are ...
Balcer, LJ, Benedict, R, Galetta, SL, Hudson, L, Kapoor, R, LaRocca, N, Multiple Sclerosis Outcome Assessments Consortium, Nolan, R, Phillips, G, Raynowska, J, Rudick, R   +10 more
core   +1 more source

KCNJ4 variants disrupt inward‐rectifier potassium channel function and cause refractory epilepsy

Epilepsia, EarlyView.
Abstract Objective Epilepsy is a common neurological disorder with a strong genetic basis, most frequently arising from ion channel dysfunction. Although multiple inwardly rectifying potassium (Kir) channels have been implicated in epileptogenesis, the contribution of KCNJ4, which encodes the Kir2.3 channel, has not previously been established in human
Hu Pan, Deng Liu, Wuhen Xu, Yang Li, Juanli Hu, Oppermann Henry, Alexander Fuchs, Rami Abou Jamra, Zhen Liu, Mei He, Yuanlu Chen, Shengnan Wu, Xiaohuan Dong, Yiqiao Chen, Pengchao Wang, Weiyue Gu, Han Jing, Yabing Tang, Ya‐Jie Wang, Xiao Mao, Neng Xiao   +20 more
wiley   +1 more source

Visual Cross-Modal Re-Organization in Children with Cochlear Implants. [PDF]

PLoS ONE, 2016
BACKGROUND:Visual cross-modal re-organization is a neurophysiological process that occurs in deafness. The intact sensory modality of vision recruits cortical areas from the deprived sensory modality of audition.
Julia Campbell, Anu Sharma
doaj   +1 more source

Visual activation of auditory cortex reflects maladaptive plasticity in cochlear implant users [PDF]

, 2017
Cross-modal reorganization in the auditory cortex has been reported in deaf individuals. However, it is not well understood whether this compensatory reorganization induced by auditory deprivation recedes once the sensation of hearing is partially ...
Debener, Stefan, Dillier, Norbert, Eichele, Tom, Jäncke, Lutz, Kegel, Andrea, Marcar, Valentine Leslie, Meyer, Martin, Pascual-Marqui, Roberto Domingo, Sandmann, Pascale   +8 more
core  

The role of language, social cognition, and social skill in the functional social outcomes of young adolescents with and without a history of SLI [PDF]

, 2008
Social skill and language are known to relate, not least in the example of those with specific language impairment (SLI). However, most of the research examining this trend has been conducted on young primary school age children and the nature of the ...
Botting, N., Conti-Ramsden, G.
core   +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

Virantanaz – an epic in Vepsian? About the first attempt at an epic

Eesti ja Soome-ugri Keeleteaduse Ajakiri, 2015
The paper is a brief account of the events of the past 20 years, which have been essential for the fate of the Veps, and brought the author, who found herself in the very heart of the processes of Vepsian language and culture revival, to the idea of ...
Nina Zaitseva
doaj   +1 more source

Parameter setting and statistical learning [PDF]

, 2006
Three main models of parameter setting have been proposed: the Variational model proposed by Yang (2002; 2004), the Structured Acquisition model endorsed by Baker (2001; 2005), and the Very Early Parameter Setting (VEPS) model advanced by Wexler (1998 ...
Graciela Tesan, Rosalind Thornton
core  

Visual processing recruits the auditory cortices in prelingually deaf children and influences cochlear implant outcomes. [PDF]

, 2017
Objective: Although visual processing recruitment of the auditory cortices has been reported previously in prelingually deaf children who have a rapidly developing brain and no auditory processing, the visual processing recruitment of auditory cortices ...
Cai, Y X, Chen, L, Chen, S, Chen, Y B, Liang, J H, Liu, J H, Zhang, J P, Zhang, X Y, Zhao, Fei, Zheng, Y Q   +9 more
core   +1 more source

Homozygous Pathogenic Variant in Elongation Factor‐Like 1 (EFL1) as a Causal Factor in Shwachman‐Diamond Syndrome 2 in a Palestinian Child, With Distinct Ocular Manifestations

Molecular Genetics &Genomic Medicine, Volume 14, Issue 5, May 2026.
We report a Palestinian female infant with a homozygous pathogenic EFL1 variant (c.3284G>A; p.Arg1095Gln) causing Shwachman–Diamond syndrome type 2 (SDS2). Beyond the classical features of pancytopenia, exocrine pancreatic insufficiency, and growth failure, the patient showed previously unreported ocular manifestations—stage 2–3 retinopathy of ...
Ibrahim Taha, Antonella Minelli, Cesare Danesino, Abdelrahman Swalmeh, Khalil Huraibat, Liana Al‐Labadi, Rema Obar, Khaled R. Beshtawi, Lubna Abu Samrah, Yousef Awlad Mohammad, Aya Farah, Abdulrahman Obar, Mutasem Khalaf, Orwa Nasser   +13 more
wiley   +1 more source