Results 71 to 80 of about 58,711,238 (132)

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

An integrated approach for rare disease detection and classification in Spanish pediatric medical reports. [PDF]

Sci Rep
Duque A, Araujo L, Martinez-Romo J, Esteban-Vasallo MD, Domínguez-Berjón MF, Malillos Perez D.   +5 more
europepmc   +1 more source

A stem cell-based toolkit to model Angelman syndrome caused by paternal uniparental disomy of chromosome 15. [PDF]

Hum Cell
Cazaux Mateus F, Camões Dos Santos J, Arez M, Bekman EP, da Rocha ST.   +4 more
europepmc   +1 more source

Novel intragenic deletions within the UBE3A gene in two unrelated patients with Angelman syndrome: case report and review of the literature. [PDF]

BMC Med Genet, 2017
Aguilera C, Viñas-Jornet M, Baena N, Gabau E, Fernández C, Capdevila N, Cirkovic S, Sarajlija A, Miskovic M, Radivojevic D, Ruiz A, Guitart M.   +11 more
europepmc   +1 more source

Causas de mortalidad entre adultos con síndrome de Down antes y después de la pandemia de COVID-19 en España

Antecedentes. La esperanza de vida de las personas con síndrome de Down (SD) se ha visto limitada por las muertes relacionadas con la enfermedad de Alzheimer (EA), principalmente debido a infecciones respiratorias. La aparición de la pandemia de COVID-19
Rubio Serrano, Javier, Adán Lirola, Laura, Real de Asúa Cruzat, Sánchez Moreno, Beatriz   +3 more
core   +1 more source

[Communication as a right: Current state of augmentative communication in healthcare]. [PDF]

Aten Primaria
Rossich-Verdés R, Muyo-Hernandez P, Cabanillas-Montferrer T, Rodríguez-Román B.   +3 more
europepmc   +1 more source

A randomized placebo controlled clinical trial to evaluate the efficacy and safety of minocycline in patients with Angelman syndrome (A-MANECE study). [PDF]

Orphanet J Rare Dis, 2018
Ruiz-Antoran B, Sancho-López A, Cazorla-Calleja R, López-Pájaro LF, Leiva Á, Iglesias-Escalera G, Marín-Serrano ME, Rincón-Ortega M, Lara-Herguedas J, Rossignoli-Palomeque T, Valiente-Rodríguez S, González-Marques J, Román-Riechmann E, Avendaño-Solá C.   +13 more
europepmc   +1 more source