Results 51 to 60 of about 3,125,349 (209)

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

An ERG and OCT study of neuronal ceroid lipofuscinosis CLN2 Battens retinopathy

Eye, 2021
Late infantile neuronal ceroid lipofuscinosis (CLN2 Batten disease) is a rare, progressive neurodegenerative disease of childhood. The natural history of motor and language regression is used to monitor the efficacy of CNS treatments. Less is known about
D. Thompson, S. Handley, R. Henderson, O. Marmoy, P. Gissen   +4 more
semanticscholar   +1 more source

What Our Hands Say: Exploring Gesture Use in Subgroups of Children With Language Delay [PDF]

, 2015
Purpose The aim of this study was to investigate whether children with receptive-expressive language delay (R/ELD) and expressive-only language delay (ELD) differ in their use of gesture; to examine relationships between their use of gesture, symbolic ...
Bates E., Bates E., Fenson L., Fey M. E., Gilliam W. S., Hilary O'Neill, Iverson J. M., Shula Chiat, Wetherby A. M., Whitehurst G., Zimmerman I.   +10 more
core   +1 more source

Sialidosis type I: How to alleviate disabling myoclonic seizures?—A multicenter analysis of eight cases and review of the literature

Epilepsia Open, EarlyView.
Abstract Objective Sialidosis type I (ST‐1) is an autosomal‐recessive, very rare, progressive lysosomal storage disorder caused by pathogenic variants in NEU1. It is clinically characterized by progressive ataxia, myoclonic seizures (MS), bilateral tonic–clonic seizures (BTCS), and distinctive ophthalmological findings.
Janina Gburek‐Augustat, I‐Chun Lee, Marica Rubino, Vehap Topçu, Melissa Chavez‐Castillo, Shao Ching Tu, Marwan Shinawi, Isabel Alfradique‐Dunham, Manouela Valtcheva, Astrid Adarmes‐Gómez, Daniel Macias‐Garcia, Laura Laura Muñoz‐Delgado, Silvia Jesús, Pablo Mir, Andreas Merkenschlager, Antonietta Coppola   +15 more
wiley   +1 more source

Confronting the Extinction Narrative: Diversity research, media, and folk views on language endangerment [PDF]

, 2015
The presentation is based on experiences from the EU-FP7 research project ELDIA, in which comparative research on the maintenance of linguistic diversity was conducted with a wide range of multilingual minority communities across Europe.
Laakso, Johanna
core  

Mapping white matter tracts with SEEG electrodes

Epilepsia, EarlyView.
Abstract Objective Stereo‐electroencephalography (SEEG) is designed to record gray matter (GM) activity for epileptogenic zone localization. SEEG electrodes, however, traverse white matter (WM) pathways that connect regions involved in seizure networks and cognition.
Davide Giampiccolo, Jan van Dijk, Alejandro Granados, Fenglai Xiao, Giorgio Fiore, Roman Rodionov, Kuo Li, Aleksander Leon Lysomirski, Andrew W. McEvoy, Beate Diehl, John S. Duncan, Fahmida Chowdhury, Anna Miserocchi   +12 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

Infantile‐Onset Ascending Hereditary Spastic Paraplegia due to a Homozygous ALS2 Exons 24–25 Deletion: Expanding the Genotypic Spectrum

American Journal of Medical Genetics Part A, Volume 200, Issue 4, Page 929-936, April 2026.
ABSTRACT We describe a novel homozygous intragenic deletion in the ALS2 gene in an 8‐year‐old boy with Infantile‐onset Ascending Hereditary Spastic Paraplegia (IAHSP) and oculomotor apraxia, thereby contributing to the expanding genetic landscape of ALS2‐related disorders.
Vito Luigi Colona, Maria Gnazzo, Silvia Genovese, Gessica Vasco, Lorena Travaglini, Maurizio Sabbadini, Marina Macchiaiolo, Francesco Nicita, Jacopo Sartorelli, Carmelo Piscopo, Enrico Castelli, Enrico Bertini, Andrea Bartuli, Antonio Novelli, Gessica Della Bella, Davide Vecchio   +15 more
wiley   +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