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Welcome to the Functional and Translational NEUROGENETICS UNIT

badalona, barcelona, spain
Joined December 2012
Photo by Neurogenetics-IGTP (@NG_IGTP)Photo by Neurogenetics-IGTP (@NG_IGTP)Photo by Neurogenetics-IGTP (@NG_IGTP)Photo by Neurogenetics-IGTP (@NG_IGTP)
Published our study extending clinical-genetic features in POLR3A-related spastic ataxia: new mutations and a look into the phenotype. J Neurol. 2019.@GTRecerca @ACAH_ataxiaCat @STOP_FA @FEDAES @hgermanstrias
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At the European meeting on Cell and Gene Therapy presenting the pre-clinical in vivo results obtained from the AAV-gene therapy to treat Friedreich’s Ataxia. @GTRecerca @hgermanstrias @FEDAES @STOP_FA @FEDER_ONG @ACAH_ataxiaCat
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Diada internacional de l'atàxia: el nostre grup a l'IGTP aprofita el llum del sincrotró ALBA per desxifrar l'atàxia de Friedreich. @GTRecerca @hgermanstrias @ACAH_ataxiaCat agenciasinc.es/Noticias/Luz-…
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Award to our communication: an unstable ATTTC repeat mutation within Disabled 1 gene causes cerebellar Purkinje cell alterations, DAB1 RNA switch, and Reelin signalling dysregulation in SCA37. 6th international congress on spastic paraplegias and ataxias, Nice, France. @GTRecerca
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Neurogenetics-IGTP retweeted
Los padres de la edición genética creen hará falta debatir sus límites éticos goo.gl/Q5Dv4S
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Neurogenetics-IGTP retweeted
Amics de Can Ruti "El millor talent al teu servei!" #GTRecerca ow.ly/xxjI309YgMd
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Neurogenetics-IGTP retweeted
Pope Francis Says Rare Disease Patients Deserve Our Commitment shar.es/1IN23W @Pontifex @CatholicNewsSvc @vatican_en @GlobalGenes
Mutations in PNKP Cause Recessive Ataxia with Oculomotor Apraxia Ty... - PubMed - NCBI ncbi.nlm.nih.gov/pubmed/2572…
Study nearly triples the locations in the human genome that harbor micro... bit.ly/1G4rpEQ via @JeffersonUniv @EurekAlertAAAS
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Neurogenetics-IGTP retweeted
Don’t miss new highlights in #NGS Technologies with @AntoniMatilla Save the date!! 16-17 April #geneticinsidER
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Functional characterization of Friedreich ataxia iPS-derived neuron... - PubMed - NCBI ncbi.nlm.nih.gov/pubmed/2500…
Neuroinflammation, mitochondrial defects and neurodegeneration in m... - PubMed - NCBI ncbi.nlm.nih.gov/pubmed/?ter…
Neurogenetics-IGTP retweeted
"Seguimos con buen rumbo" Nuestra newsletter está disponible en: blogs.uab.cat/stopfa/2015/02…
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Comisión Europea y el Instituto Salud Carlos III firman acuerdo para estudio políticas de #salud para el #autismo ow.ly/JaPGL
Neurogenetics-IGTP retweeted
Científicos descubren un gen que rompe la ley de la herencia de Mendel noticias.lainformacion.com/s… vía @la_informacion