Results 61 to 70 of about 493 (108)

The involvement of Purkinje cells in progressive myoclonic epilepsy: Focus on neuronal ceroid lipofuscinosis.

Neurobiol Dis, 2023
Bernardi S, Gemignani F, Marchese M.
europepmc   +1 more source

Etude génétique de maladies rares chez des patients issus de mariages consanguins

, 2009
La découverte du défaut moléculaire en cause dans les maladies rares est une étape importante en vue d'un traitement spécifique ainsi que d'un meilleur diagnostic, ce qui permet de réduire le délai diagnostique, de mieux connaître l'histoire naturelle de
Désir, Julie
core  

PAIRNet: Predicting PIWI cleavage specificity via position-aware RNA interaction modeling. [PDF]

PLoS Comput Biol
Zeng L, Li Z, Shen E, Tu S, Xu L.
europepmc   +1 more source

Motor phenotyping in a Greek cohort of patients with neonatal and infantile onset developmental and epileptic encephalopathy

Background: Developmental and epileptic encephalopathy (DEE) includes diseases where there is developmental impairment related to both the underlying etiology independent of epileptiform activity and the epileptic encephalopathy.
Yapijakis, Christos, Loukas, Yannis L., Outsika, Chrysa, Vontzalidis, Adamantios, Spanou, Maria, Kokkinou, Eleftheria, Moudaki, Angeliki, Pons, Roser, Lykopoulou, Evangelia, Zouvelou, Vasiliki, Tilemis, Faidon-Nikolaos, Georgiadou, Elissavet, Skiathitou, Anna-Venetia, Koltsida, Georgia, Nikaina, Eirini, Dinopoulos, Argirios, Sofocleous, Christalena, Siahanidou, Tania, Kollia, Elissavet, Marinakis, Nikolaos M., Veltra, Danai, Dalivigka, Zoi, Anagnostopoulou, Katherine K.   +22 more
core   +1 more source

Neuronal ceroid lipofuscinosis: underlying mechanisms and emerging therapeutic targets. [PDF]

Nat Rev Neurol
Ziółkowska EA, Takahashi K, Dickson PI, Sardiello M, Sands MS, Cooper JD.   +5 more
europepmc   +1 more source

PPARα and RXRα in the regulation of neuronal ceroid lipofuscinosis genes: implications for Batten disease therapy. [PDF]

NeuroImmune Pharm Ther
Chandra S, Pahan K.
europepmc   +1 more source

A Comprehensive Analysis of the Structural Recognition between KCTD Proteins and Cullin 3. [PDF]

Int J Mol Sci
Balasco N, Esposito L, Smaldone G, Salvatore M, Vitagliano L.   +4 more
europepmc   +1 more source

Impact of rapid genomic testing on clinical outcomes of acutely unwell children presenting with severe epilepsy. [PDF]

Eur J Hum Genet
Sasaki E, Millington P, Sazonova T, Hanington L, Parrish A, Banos-Pinero B, Lord H, Taylor J, Jeeneea R, Sherlaw-Sturrock C, Parida A, Vogt J, Naik S, Sa M, Kini U.   +14 more
europepmc   +1 more source

Common Biomarkers and Pathogenesis of Inflammatory Bowel Disease and Breast Cancer: Mendelian Randomization and Multi-Omics Studies. [PDF]

Breast Cancer (Dove Med Press)
Zhang D, Guan Y, Tang H, Xue Q, Li X, Bin X, You F.   +6 more
europepmc   +1 more source

Exploring the Genetic Etiology of Pediatric Epilepsy: Insights from Targeted Next-Generation Sequence Analysis. [PDF]

Mol Syndromol
Ozturk O, Ozturk M, Ates K, Esener Z, Erguven NN, Ozgor B, Gungor S, Sigirci A, Tekedereli I.   +8 more
europepmc   +1 more source