1. Axonal Neuropathies due to Mutations in Small Heat Shock Proteins: Clinical, Genetic, and Functional Insights into Novel Mutations. Issue 5 (25th February 2017) Authors: Echaniz‐Laguna, Andoni; Geuens, Thomas; Petiot, Philippe; Péréon, Yann; Adriaenssens, Elias; Haidar, Mansour; Capponi, Simona; Maisonobe, Thierry; Fournier, Emmanuel; Dubourg, Odile; Degos, Bertrand; Salachas, François; Lenglet, Timothée; Eymard, Bruno; Delmont, Emilien; Pouget, Jean; Juntas Mora... Journal: Human mutation Issue: Volume 38:Issue 5(2017) Page Start: 556 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. Charcot‐Marie‐Tooth disease: frequency of genetic subtypes in a Southern Italy population. Issue 4 (December 2014) Authors: Manganelli, Fiore; Tozza, Stefano; Pisciotta, Chiara; Bellone, Emilia; Iodice, Rosa; Nolano, Maria; Geroldi, Alessandro; Capponi, Simona; Mandich, Paola; Santoro, Lucio Journal: Journal of the peripheral nervous system Issue: Volume 19:Issue 4(2014) Page Start: 292 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. Dissection of TAF1 neuronal splicing and implications for neurodegeneration in X-linked dystonia-parkinsonism. Issue 4 (27th October 2021) Authors: Capponi, Simona; Stöffler, Nadja; Penney, Ellen B; Grütz, Karen; Nizamuddin, Sheikh; Vermunt, Marit W; Castelijns, Bas; Fernandez-Cerado, Cara; Legarda, G Paul; Velasco-Andrada, M Salvie; Muñoz, Edwin L; Ang, Mark A; Diesta, Cid Czarina E; Creyghton, Menno P; Klein, Christine; Bragg, D Cristopher... Journal: Brain communications Issue: Volume 3:Issue 4(2021) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. Early onset Charcot‐Marie‐Tooth neuropathy type 2A and severe developmental delay: expanding the clinical phenotype of MFN2‐related neuropathy. Issue 4 (December 2015) Authors: Tufano, Maria; Cappuccio, Gerarda; Terrone, Gaetano; Manganelli, Fiore; Pisciotta, Chiara; Geroldi, Alessandro; Capponi, Simona; Del Giudice, Ennio Journal: Journal of the peripheral nervous system Issue: Volume 20:Issue 4(2015) Page Start: 415 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. Missense variants in TAF1 and developmental phenotypes: Challenges of determining pathogenicity. Issue 2 (25th November 2019) Authors: Cheng, Hanyin; Capponi, Simona; Wakeling, Emma; Marchi, Elaine; Li, Quan; Zhao, Mengge; Weng, Chunhua; Stefan, Piatek G.; Ahlfors, Helena; Kleyner, Robert; Rope, Alan; Lumaka, Aimé; Lukusa, Prosper; Devriendt, Koenraad; Vermeesch, Joris; Posey, Jennifer E.; Palmer, Elizabeth E.; Murray, Lucinda; ... Other Names: investigator. Journal: Human mutation Issue: Volume 41:Issue 2(2020) Page Start: 449 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. Missense variants in TAF1 and developmental phenotypes: Challenges of determining pathogenicity. Issue 2 (25th November 2019) Authors: Cheng, Hanyin; Capponi, Simona; Wakeling, Emma; Marchi, Elaine; Li, Quan; Zhao, Mengge; Weng, Chunhua; Piatek, Stefan G.; Ahlfors, Helena; Kleyner, Robert; Rope, Alan; Lumaka, Aimé; Lukusa, Prosper; Devriendt, Koenraad; Vermeesch, Joris; Posey, Jennifer E.; Palmer, Elizabeth E.; Murray, Lucinda; ... Other Names: investigator. Journal: Human mutation Issue: Volume 41:Issue 2(2020) Page Start: 449 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. Molecular Chaperones in the Pathogenesis of Amyotrophic Lateral Sclerosis: The Role of HSPB1. Issue 11 (30th August 2016) Authors: Capponi, Simona; Geuens, Thomas; Geroldi, Alessandro; Origone, Paola; Verdiani, Simonetta; Cichero, Elena; Adriaenssens, Elias; De Winter, Vicky; Bandettini di Poggio, Monica; Barberis, Marco; Chiò, Adriano; Fossa, Paola; Mandich, Paola; Bellone, Emilia; Timmerman, Vincent Journal: Human mutation Issue: Volume 37:Issue 11(2016) Page Start: 1202 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
8. Neuronal-specific microexon splicing of TAF1 mRNA is directly regulated by SRRM4/nSR100. Issue 1 (2nd January 2020) Authors: Capponi, Simona; Stöffler, Nadja; Irimia, Manuel; Van Schaik, Frederik M.A.; Ondik, Mercedes M.; Biniossek, Martin L.; Lehmann, Lisa; Mitschke, Julia; Vermunt, Marit W.; Creyghton, Menno P.; Graybiel, Ann M.; Reinheckel, Thomas; Schilling, Oliver; Blencowe, Benjamin J.; Crittenden, Jill R.; Timme... Journal: RNA biology Issue: Volume 17:Issue 1(2020) Page Start: 62 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
9. Sural nerve biopsy and functional studies support the pathogenic role of a novel MPZ mutation. Issue 3 (11th November 2014) Authors: Prada, Valeria; Capponi, Simona; Ursino, Giulia; Alberti, Antonia; Callegari, Ilaria; Passalacqua, Mario; Marotta, Roberto; Mandich, Paola; Bellone, Emilia; Schenone, Angelo; Grandis, Marina Journal: Neuropathology Issue: Volume 35:Issue 3(2015) Page Start: 254 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗