Janet Hoenicka
Jefe de Grupo Senior
Research group
Professional network profiles
Related websites
SJD Barcelona Children's Hospital Last Publications
- Vela-Desojo L, Pascual-Rodriguez A, Montal V, Guerrero C, Osuna-Lopez M, Guallar V, Palau F and Hoenicka J A new LRRK2 variant in a family with Parkinson's disease affects binding to RAB8A npj Parkinsons Disease . 11(1): 154-154.
- Lange LM, Levine K, Fox SH, Marras C, Ahmed N, Kuznetsov N, Vitale D, Iwaki H, Lohmann K, Marsili L, Espay AJ, Bauer P, Beetz C, Martin J, Factor SA, Higginbotham LA, Chen H, Leonard H, Nalls MA, Mencacci NE, Morris HR, Singleton AB, Klein C, Blauwendraat C and Fang ZH The LRRK2 p.L1795F variant causes Parkinson's disease in the European population. npj Parkinsons Disease . 11(1): 58-58.
- Estévez-Arias B, Matalonga L, Yubero-Siles D, Polavarapu K, Codina-Bergadà A, Ortez-Gonzalez CI, Carrera-García L, Exposito-Escudero JM, Jou-Munoz C, Meyer S, Kilicarslan OA, Aleman A, Thompson R, Luknárová R, Esteve-Codina A, Gut M, Laurie S, Demidov G, Yépez VA, Beltran S, Gagneur J, Topf A, Lochmüller H, Nascimento-Osorio A, Hoenicka J, Palau F and Natera-de Benito D Phenotype-driven genomics enhance diagnosis in children with unresolved neuromuscular diseases EUROPEAN JOURNAL OF HUMAN GENETICS . 33(2): 239-247.
Projects
- 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:
- Genes y Fenotipos de Síndromes Parkinsonianos: validación funcional de hallazgos genéticos - ParkGenPhen
- Leader
- Janet Hoenicka
- Funding entities:
- Instituto de Salud Carlos III (ISCIII), Fundació Privada per a la Recerca i la Docència Sant Joan de Déu - FSJD, Hoenicka, Janet
- Code
- PI22/00680
- Starting - finishing date:
- 2023 - 2025
- 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 - 2025
News
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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.
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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.