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Simona Capponi

Showing results (11-20 of 20) with videos related to

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Journal of the Neurological Sciences|June 2, 2014
A novel LITAF/SIMPLE mutation within a family with a demyelinating form of Charcot-Marie-Tooth diseasePaola Ciotti, Marco Luigetti, Alessandro Geroldi, et al.
Nature Communications|May 5, 2026
Correction of the molecular phenotype of X-linked Dystonia-Parkinsonism reveals a non-canonical function of BRD4Simona Capponi, Sandra Ehret, Zeynep Camgöz, et al.
Annals of Neurology|March 28, 2012
Gain of glycosylation: a new pathomechanism of myelin protein zero mutationsValeria Prada, Mario Passalacqua, Maria Bono, et al.
Nature Communications|April 17, 2019
Co-translational assembly of mammalian nuclear multisubunit complexesIvanka Kamenova, Pooja Mukherjee, Sascha Conic, et al.
Human Mutation|August 6, 2016
Molecular Chaperones in the Pathogenesis of Amyotrophic Lateral Sclerosis: The Role of HSPB1Simona Capponi, Thomas Geuens, Alessandro Geroldi, et al.
RNA Biology|September 28, 2019
Neuronal-specific microexon splicing of <i>TAF1</i> mRNA is directly regulated by SRRM4/nSR100Simona Capponi, Nadja Stöffler, Manuel Irimia, et al.
Human Mutation|February 2, 2017
Axonal Neuropathies due to Mutations in Small Heat Shock Proteins: Clinical, Genetic, and Functional Insights into Novel MutationsAndoni Echaniz-Laguna, Thomas Geuens, Philippe Petiot, et al.
Brain Communications|November 8, 2021
Dissection of <i>TAF1</i> neuronal splicing and implications for neurodegeneration in X-linked dystonia-parkinsonismSimona Capponi, Nadja Stöffler, Ellen B Penney, et al.
Biorxiv : the Preprint Server for Biology|November 24, 2025
Genome writing to dissect consequences of SVA retrotransposon disease X-Linked Dystonia ParkinsonismWeimin Zhang, Yu Zhao, Priya Prakash, et al.
Human Mutation|October 25, 2019
Missense variants in TAF1 and developmental phenotypes: challenges of determining pathogenicityHanyin Cheng, Simona Capponi, Emma Wakeling, et al.
Pageof 2

Showing results (11-20 of 20) with videos related to

Sort By:
Pageof 2
You have reached the last page of results.This site can display upto 20 results.
Journal of the Neurological Sciences|June 2, 2014
A novel LITAF/SIMPLE mutation within a family with a demyelinating form of Charcot-Marie-Tooth diseasePaola Ciotti, Marco Luigetti, Alessandro Geroldi, et al.
Nature Communications|May 5, 2026
Correction of the molecular phenotype of X-linked Dystonia-Parkinsonism reveals a non-canonical function of BRD4Simona Capponi, Sandra Ehret, Zeynep Camgöz, et al.
Annals of Neurology|March 28, 2012
Gain of glycosylation: a new pathomechanism of myelin protein zero mutationsValeria Prada, Mario Passalacqua, Maria Bono, et al.
Nature Communications|April 17, 2019
Co-translational assembly of mammalian nuclear multisubunit complexesIvanka Kamenova, Pooja Mukherjee, Sascha Conic, et al.
Human Mutation|August 6, 2016
Molecular Chaperones in the Pathogenesis of Amyotrophic Lateral Sclerosis: The Role of HSPB1Simona Capponi, Thomas Geuens, Alessandro Geroldi, et al.
RNA Biology|September 28, 2019
Neuronal-specific microexon splicing of <i>TAF1</i> mRNA is directly regulated by SRRM4/nSR100Simona Capponi, Nadja Stöffler, Manuel Irimia, et al.
Human Mutation|February 2, 2017
Axonal Neuropathies due to Mutations in Small Heat Shock Proteins: Clinical, Genetic, and Functional Insights into Novel MutationsAndoni Echaniz-Laguna, Thomas Geuens, Philippe Petiot, et al.
Brain Communications|November 8, 2021
Dissection of <i>TAF1</i> neuronal splicing and implications for neurodegeneration in X-linked dystonia-parkinsonismSimona Capponi, Nadja Stöffler, Ellen B Penney, et al.
Biorxiv : the Preprint Server for Biology|November 24, 2025
Genome writing to dissect consequences of SVA retrotransposon disease X-Linked Dystonia ParkinsonismWeimin Zhang, Yu Zhao, Priya Prakash, et al.
Human Mutation|October 25, 2019
Missense variants in TAF1 and developmental phenotypes: challenges of determining pathogenicityHanyin Cheng, Simona Capponi, Emma Wakeling, et al.
Pageof 2