Janet Hoenicka
Jefe de Grupo Senior
Research group
Professional network profiles
Related websites
SJD Barcelona Children's Hospital Last Publications
- Sun W, Schulte C, Gasser T and Tan M TMEM175, SCARB2 and CTSB associations with Parkinson's disease risk across populations. npj Parkinsons Disease . 11(1): 348-348.
- Estévez-Arias B, Sarv S, Bonello-Palot N, Carrera-García L, Ortez-Gonzalez CI, Exposito-Escudero JM, Yubero-Siles D, Muchart-Lopez J, Delmont E, Õiglane-Shlik E, Meren T, Puusepp S, Murumets Ü, Salomons GS, Udd B, Väli L, Cantarero-Abad L, Bönnemann CG, Nascimento-Osorio A, Ramón-Maiques S, Õunap K, Hoenicka J, Natera-de Benito D and Palau F Biallelic Variants in the DARS2 Gene as a Novel Cause of Axonal Charcot-Marie-Tooth Disease ANNALS OF NEUROLOGY . 98(6): 1335-1351.
- Olival J, Hoenicka J, Arca-Diaz G, Arnaez-Solis J, Agut-Quijano T, Maynou-Fernández J, Stephan-Otto C, Nuñez C, Benavente I, Simon Pedro Lubian López, Palau F and García-Alix A Idiopathic neonatal arterial ischaemic stroke: a trio-based whole-exome sequencing study ARCHIVES OF DISEASE IN CHILDHOOD-FETAL AND NEONATAL EDITION . : .
Projects
- Project name:
- PRECLINICAL ASSAY OF TWO NEW HDAC6 SELECTIVE INHIBITORS IN HUMAN MODELS OF GDAP1 AND MFN2-RELATED CHARCOT-MARIE-TOOTH NEUROPATHY
- Leader
- Francesc Palau Martínez
- Funding entities:
- Fundación Isabel Gemio Inv. De Distrofias Musculares y Enfermedades Raras
- Code
- PCP00466
- Starting - finishing date:
- 2025 - 2026
- Project name:
- Contratos predoctorales de formación en investigación en salud. Beneficiari: Roberta Repossi
- Leader
- Janet Hoenicka
- Funding entities:
- Instituto de Salud Carlos III (ISCIII)
- Code
- FI23/00064
- Starting - finishing date:
- 2024 - 2027
- Project name:
- The clinical brain of coffin-siris syndrome: comprehensive approach to a neurodevelopmental disorder
- Leader
- Francesc Palau Martínez
- Funding entities:
- ASOCIACIÓN ESPAÑOLA COFFIN-SIRIS
- Code
- PFNR0183
- Starting - finishing date:
- 2023 - 2026
News
-
An innovative treatment driven by Sant Joan de Déu improves neurodevelopment in two children with Menkes disease
A study led by the Institut de Recerca Sant Joan de Déu (IRSJD) and the Hospital Sant Joan de Déu (HSJD) publishes the first positive clinical results with elesclomol-copper in infants affected by Menkes disease.
-
Experts in nanomedicine come together to tackle rare diseases
The fourth edition of the "Nanorare Disease Day" event was held on February 28th, in collaboration between the Institut de Recerca Sant Joan de Déu de Barcelona and NanomedSpain, on World Rare Disease Day.
-
Mitochondria-lysosome contacts: a new cell phenotype in neurogenetic diseases
The Neurogenetics and Molecular Medicine research group of the Institut de Recerca Sant Joan de Déu (IRSJD), in collaboration with the Neuromuscular Pathology Unit of the SJD Barcelona Children's Hospital (HSJD), has studied the pathophysiology of mitochondrial dynamics and mitochondrial- lysosome contacts in cells from patients with neurogenetic diseases. The article has been published in the journal Frontiers in Neuroscience.
