Results 61 to 70 of about 1,264 (133)

The Novel KIF1A Missense Variant (R169T) Strongly Reduces Microtubule Stimulated ATPase Activity and Is Associated With NESCAV Syndrome. [PDF]

Front Neurosci, 2021
Aguilera C, Hümmer S, Masanas M, Gabau E, Guitart M, Jeyaprakash AA, Segura MF, Santamaria A, Ruiz A.   +8 more
europepmc   +1 more source

Cognitive-Behavioral Profile in Pediatric Patients with Syndrome 5p-; Genotype-Phenotype Correlationships. [PDF]

Genes (Basel), 2023
Bel-Fenellós C, Biencinto-López C, Sáenz-Rico B, Sáenz-Rico B, Hernández A, Sandoval-Talamantes AK, Tenorio-Castaño J, Lapunzina P, Nevado J.   +8 more
europepmc   +1 more source

Cooperative Parent-Mediated Therapy in Children with Fragile X Syndrome and Williams Beuren Syndrome: A Pilot RCT Study of a Transdiagnostic Intervention-Preliminary Data. [PDF]

Brain Sci, 2021
Alfieri P, Scibelli F, Casula L, Piga S, Napoli E, Valeri G, Vicari S.   +6 more
europepmc   +1 more source

['Dental Care in a girl with Angelman Syndrome', 'Atención odontológica en una niña con Síndrome de Angelman', 'Atendimento odontológico em uma menina com síndrome de Angelman']

Revista de Odontopediatria Latinoamericana, 2021
Magdalena Rodriguez Verdugo, María José Monsalva Cerda , Andrea Ormeño Quintana   +2 more
doaj   +2 more sources

MeCP2 haplodeficiency and early-life stress interaction on anxiety-like behavior in adolescent female mice. [PDF]

J Neurodev Disord, 2021
Abellán-Álvaro M, Stork O, Agustín-Pavón C, Santos M.   +3 more
europepmc   +1 more source

Choosing Strategies to Deal with Artifactual EEG Data in Children with Cognitive Impairment. [PDF]

Entropy (Basel), 2021
Tost A, Migliorelli C, Bachiller A, Medina-Rivera I, Romero S, García-Cazorla Á, Mañanas MA.   +6 more
europepmc   +1 more source

JNK signaling provides a novel therapeutic target for Rett syndrome. [PDF]

BMC Biol, 2021
Musi CA, Castaldo AM, Valsecchi AE, Cimini S, Morello N, Pizzo R, Renieri A, Meloni I, Bonati M, Giustetto M, Borsello T.   +10 more
europepmc   +1 more source

Five new cases of syndromic intellectual disability due to KAT6A mutations: widening the molecular and clinical spectrum. [PDF]

Orphanet J Rare Dis, 2020
Urreizti R, Lopez-Martin E, Martinez-Monseny A, Pujadas M, Castilla-Vallmanya L, Pérez-Jurado LA, Serrano M, Natera-de Benito D, Martínez-Delgado B, Posada-de-la-Paz M, Alonso J, Marin-Reina P, O'Callaghan M, Grinberg D, Bermejo-Sánchez E, Balcells S.   +15 more
europepmc   +1 more source

[Epilepsy in Angelman syndrome and the most common electroencephalographic findings]. [PDF]

Rev Neurol
Ebrat-Mancilla E, Sánchez-Aparicio A, Pérez de Vargas-Martínez A, Marín-Serrano ME, Vaquero-Martínez M, Iglesias-Escalera G, Cazorla MR, López-Pájaro LF.   +7 more
europepmc   +1 more source

Identification of a de novo splicing variant in the Coffin-Siris gene, SMARCE1, in a patient with Angelman-like syndrome. [PDF]

Mol Genet Genomic Med, 2019
Aguilera C, Gabau E, Laurie S, Baena N, Derdak S, Capdevila N, Ramirez A, Delgadillo V, García-Catalan MJ, Brun C, Guitart M, Ruiz A.   +11 more
europepmc   +1 more source