Results 171 to 180 of about 48,210 (290)

WONOEP XVII appraisal: The role of the extracellular matrix in epilepsy

Epilepsia, EarlyView.
Abstract The extracellular matrix (ECM) is composed of proteoglycans and glycoproteins that regulate the external environment surrounding neurons, glia, and the vascular system. The ECM is vital for maintaining the structure and function of the brain and also acts as a reservoir for various signaling molecules and neurotransmitters, modulating synaptic
Eleonora Lugara, Erwin A. van Vliet, Alessia Romagnolo, Kevin Staley, Kyle P. Lillis, Chris Dulla, David C. Henshall, Katja Kobow   +7 more
wiley   +1 more source

Axial Length Profiles in Inherited Retinal Diseases-A Genotypic and Phenotypic Analysis. [PDF]

Invest Ophthalmol Vis Sci
Zhang L, Li H, Duan C, Ju Y, Chang Q, Zhang T, Gao F, Zong Y, Xu G.   +8 more
europepmc   +1 more source

Inherited metabolic epilepsies–established diseases, new approaches

Epilepsia Open, EarlyView.
Abstract Inherited metabolic epilepsies (IMEs) represent the inherited metabolic disorders (IMDs) in which epilepsy is a prevailing component, often determining other neurodevelopmental outcomes associated with the disorder. The different metabolic pathways affected by individual IMEs are the basis of their rarity and heterogeneity.
Itay Tokatly Latzer, Phillip L. Pearl
wiley   +1 more source

Clinical and Molecular Characteristics of Foveal Sparing Phenotype in Chinese Patients With Inherited Retinal Diseases. [PDF]

Transl Vis Sci Technol
Wang Z, Li T, Chen J, Sun Y, Jia H, Sun J, Sun X.   +6 more
europepmc   +1 more source

Inherited retinal disease

Acta Ophthalmologica, 2017
openaire   +1 more source

Genetic Testing for Inherited Retinal Disease [PDF]

Ophthalmology, 2017
openaire   +2 more sources

Precision therapies for genetic epilepsies in 2025: Promises and pitfalls

Epilepsia Open, EarlyView.
Abstract By targeting the underlying etiology, precision therapies offer an exciting paradigm shift to improve the stagnant outcomes of drug‐resistant epilepsies, including developmental and epileptic encephalopathies. Unlike conventional antiseizure medications (ASMs) which only treat the symptoms (seizures) but have no effect on the underlying ...
Shuyu Wang, Emilio Perucca, Samuel F. Berkovic, Piero Perucca   +3 more
wiley   +1 more source

RetiGene, a comprehensive gene atlas for inherited retinal diseases. [PDF]

Am J Hum Genet
Rivolta C, Celik E, Kamdar D, Cancellieri F, Kaminska K, Ullah M, Barberán-Martínez P, Bouckaert M, Cortón M, Delanote E, Fernández-Caballero L, García García G, Holtes LK, Karali M, Lopez I, Peter VG, Schneider N, Vincke L, Ayuso C, Banfi S, Bocquet B, Coppieters F, Cremers FPM, Inglehearn CF, Iwata T, Kalatzis V, Koenekoop RK, Millán JM, Sharon D, Toomes C, Quinodoz M.   +30 more
europepmc   +1 more source

Integrative genomic and spatial transcriptomic analysis elucidates the oligodendrocyte‐mediated etiology of epileptic cortical thinning

Epilepsia Open, EarlyView.
Abstract Objective Focal epilepsy is characterized by progressive cortical thinning, particularly within limbic structures; however, whether this atrophy reflects acquired seizure‐induced damage or shared genetic predisposition remains unresolved. Methods We integrated genome‐wide association study (GWAS) summary statistics from the ILAE Consortium ...
Dingyuan Zhang, Qianqian Zhang, Guangming Li, Lingting Yu, Yanling Ma, Xiaoli Hong, Yujie Kui, Shanshan Cai, Jianguang Sun, Zechao Zhu   +9 more
wiley   +1 more source

Crx-L253X mutation produces dominant photoreceptor defects in TVRM65 mice [PDF]

, 2017
Chen, Shiming, Hennig, Anne K, Linne, Courtney D, Ruzycki, Philip A   +3 more
core   +2 more sources