Gemma Marfany Nadal
Jefe de Grupo Senior
Research group
Professional network profiles
Last Publications
- Aísa-Marín I, Rovira Q, Díaz N, Calvo-López L, Vaquerizas JM and Marfany G Specific photoreceptor cell fate pathways are differentially altered in NR2E3-associated diseases NEUROBIOLOGY OF DISEASE . 194: 106463-106463.
- Baz-Redón N, Sánchez-Bellver L, Fernández-Cancio M, Rovira-Amigo S, Burgoyne T, Ranjit R, Aquino V, Toro-Barrios N, Carmona R, Polverino E, Cols M, Moreno-Galdó A, Camats-Tarruella N and Marfany G Primary Ciliary Dyskinesia and Retinitis Pigmentosa: Novel RPGR Variant and Possible Modifier Gene Cells . 13(6): .
- Izquierdo-Villalba I, Mirra S, Manso Y, Parcerisas A, Rubio J, Del Valle J, Gil-Bea FJ, Ulloa F, Herrero-Lorenzo M, Verdaguer E, Benincá C, Castro-Torres RD, Rebollo E, Marfany G, Auladell C, Navarro X, Enríquez JA, López de Munain A, Soriano E and Aragay AM A mammalian-specific Alex3/Gaq protein complex regulates mitochondrial trafficking, dendritic complexity, and neuronal survival SCIENCE SIGNALING . 17(822): 1007-1007.
News
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Genetic mutations are identified as causing two types of hereditary blindness
The study led by Dr. Gemma Marfany describes how mutations in the NR2E3 gene lead to the death of photoreceptor cells involved in vision and pave the way for potential treatments.
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First clinical guideline on Schaaf-Yang syndrome for professionals and families
Improving knowledge of the Schaaf-Yang syndrome (SYS) -an ultrarare disease caused by mutations in the MAGEL2 gene- is the aim of the first clinical guideline aimed at healthcare professionals and families of children affected by this pathology.
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This study identifies new functions in the gene that causes Machado-Joseph disease
The study, published in the journal Cell Reports, is led by Gemma Marfany, Human Molecular Genetics II · IRSJD, researcher at the Institute of Biomedicine of the UB (IBUB) and the CIBERER.
More activities
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Cátedra UB de Enfermedades Raras: Jornada sobre la Investigación
Aula de Graus. Facultat de Biologia. Universitat de Barcelona