Janet Hoenicka
Jefe de Grupo Senior
Research group
Professional network profiles
Related websites
SJD Barcelona Children's Hospital Last Publications
- Ojo OO, Bandres-Ciga S, Makarious MB, Crea PW, Hernandez DG, Houlden H, Rizig M, Singleton AB, Noyce AJ, Nalls MA, Blauwendraat C and Okubadejo NU GBA1 rs3115534 Is Associated with REM Sleep Behavior Disorder in Parkinson's Disease in Nigerians. MOVEMENT DISORDERS . 39(4): 728-733.
- Pijuan-Marquilles J, Vilanova-Adell A, Casas-Alba D, Campistol-Plana J, Hoenicka J and Palau F Inheritance of c.628-6G>A GNB5 hypomorphic allele uncovers another challenge in the pathogenic prediction of genomic variants CLINICAL GENETICS . 105(3): 340-342.
- Estévez-Arias B, Matalonga L, Martorell-Sampol L, Codina-Bergadà A, Ortez-Gonzalez CI, Carrera-García L, Exposito-Escudero JM, Yubero-Siles D, Hoenicka J, Jou-Munoz C, Palau F, Beltran S, Lochmüller H, Töpf A, Nascimento-Osorio A and Natera-de Benito D Improving Diagnostic Precision: Phenotype-Driven Analysis Uncovers a Maternal Mosaicism in an Individual with RYR1-Congenital Myopathy Journal of neuromuscular diseases . 11(3): 647-653.
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 - 2024
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.