Skip to main content

Pediatric Neurology

The Pediatric Neurology Research group is mainly involved in the study of genetic diseases of the developing nervous system. The main emphasis is on paroxysmal neurological disorders and neuromuscular disorders. A common theme across the different projects, besides the identification of the molecular basis of several of these rare disorders, is the investigation of molecules involved in their pathophysiological mechanisms and the effective translation of these findings into the fields of molecular diagnosis, genetic counselling and newly developed gene or drug therapies.

Publications

Clinical dimensions along the non-fluent variant primary progressive aphasia spectrum.

PMID: 37988272
Journal: BRAIN
Year: 2023
Reference: Brain. 2023 Nov 21:awad396. doi: 10.1093/brain/awad396.
Impact factor:
Publication type: Paper in international publication
Authors: Anke, Audny; Beer, Ronny; Bellander, Bo-Michael; Beqiri, Erta; Boxer, Adam L; Buki, Andras; Cabeleira, Manuel; Carbonara, Marco; Chieregato, Arturo; Citerio, Giuseppe et al.
DOI: 10.1093/brain/awad396

SARS-CoV-2 infection in solid organ transplant recipients: Experience with molnupiravir.

PMID: 37997866
Journal: Revista Espanola de Quimioterapia
Year: 2023
Reference: Rev Esp Quimioter. 2023 Nov;36 Suppl 1:22-24. doi: 10.37201/req/s01.06.2023. Epub 2023 Nov 24.
Impact factor:
Publication type: Paper in international publication
Authors: Boxer, Adam L; de Leon, Jessica; Ezzes, Zoe; Gomez-Andres, David; Gorno-Tempini, Maria Luisa; Grinberg, Lea T; Henry, Maya L; Illan-Gala, Ignacio; Kramer, Joel H; Len, O et al.
DOI: 10.37201/req/s01.06.2023

Implementation of programmes for the transition of adolescents to adult care.

PMID: 38016858
Journal: Anales de pediatria
Year: 2023
Reference: An Pediatr (Engl Ed). 2023 Nov 27:S2341-2879(23)00255-7. doi: 10.1016/j.anpede.2023.09.014.
Impact factor:
Publication type: Paper in international publication
Authors: Aceituno-Lopez, Maria Angeles; Asmarats, Luis; Avvedimento, Marisa; Belahnech, Yassin; Bonnet, Guillaume; Camprodon-Gomez, Maria; Cheema, Asim N; De La Torre Hernandez, Jose M; Del-Toro-Riera, Mireia; Esposito, Giovanni et al.
DOI: 10.1016/j.anpede.2023.09.014

Addressing the unmet needs in patients with type 2 inflammatory diseases: when quality of life can make a difference.

PMID: 38026127
Journal:
Year: 2023
Reference: Front Allergy. 2023 Nov 9;4:1296894. doi: 10.3389/falgy.2023.1296894. eCollection 2023.
Impact factor:
Publication type: Paper in international publication
Authors: Aceituno-Lopez, Maria Angeles; Alobid, Isam; Camprodon-Gomez, Maria; Del-Toro-Riera, Mireia; Espinosa, Miriam; Gomez de la Fuente, Enrique; Lara-Fernandez, Roser; Luca de Tena, Africa; Marti-Beltran, Sergi; Moreno-Galdo, Antonio et al.
DOI: 10.3389/falgy.2023.1296894

Blog

News

The ClinPrior algorithm achieved a positive diagnosis rate of 70% in two minority diseases of neurodegenerative origin, which represents double the number of cases that are diagnosed with current tools.

Over the course of two days, experts presented the latest advances in vectors, different gene modification techniques and their transfer to clinical practice.

El 20% dels pacients en els quals s’havia trobat alguna predisposició genètica van ser diagnosticats amb algun tipus de tumor i van poder iniciar el tractament de manera precoç.