1. Assessment of the functional impact on the pre‐mRNA splicing process of 28 nucleotide variants associated with Pompe disease in GAA exon 2 and their recovery using antisense technology. Issue 11 (29th July 2019) Authors: Goina, Elisa; Musco, Lorena; Dardis, Andrea; Buratti, Emanuele Journal: Human mutation Issue: Volume 40:Issue 11(2019) Page Start: 2121 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. Diagnostic performance of a colorimetric RT -LAMP for the identification of SARS-CoV-2: A multicenter prospective clinical evaluation in sub-Saharan Africa. (October 2021) Authors: Baba, Marycelin Mandu; Bitew, Molalegne; Fokam, Joseph; Lelo, Eric Agola; Ahidjo, Ahmed; Asmamaw, Kominist; Beloumou, Grace Angong; Bulimo, Wallace Dimbuson; Buratti, Emanuele; Chenwi, Collins; Dadi, Hailu; D'Agaro, Pierlanfranco; De Conti, Laura; Fainguem, Nadine; Gadzama, Galadima; Maiuri, Paol... Journal: EClinicalMedicine Issue: Volume 40(2021) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. Distinguishing post‐translational modifications in dominantly inherited frontotemporal dementias: FTLD‐TDP Type A (GRN) vs Type B (C9orf72). (28th July 2022) Authors: Cracco, Laura; Doud, Emma H.; Hallinan, Grace I.; Garringer, Holly J.; Jacobsen, Max H.; Richardson, Rose M.; Buratti, Emanuele; Vidal, Ruben; Ghetti, Bernardino; Newell, Kathy L. Journal: Neuropathology & applied neurobiology Issue: Volume 48:Number 6(2022) Page Start: n/a Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. Drosophila Answers to TDP-43 Proteinopathies. (18th April 2012) Authors: Romano, Maurizio; Feiguin, Fabian; Buratti, Emanuele Other Names: Chern Yijuang Academic Editor. Journal: Journal of amino acids Issue: Volume 2012(2012) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. Dysregulation of TDP‐43 intracellular localization and early onset ALS are associated with a TARDBP S375G variant. (27th December 2018) Authors: Newell, Kathy; Paron, Francesca; Mompean, Miguel; Murrell, Jill; Salis, Elisa; Stuani, Cristiana; Pattee, Gary; Romano, Maurizio; Laurents, Douglas; Ghetti, Bernardino; Buratti, Emanuele Journal: Brain pathology Issue: Volume 29:Number 3(2019) Page Start: 397 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. Exon and intron definition in pre‐mRNA splicing. (8th October 2012) Authors: De Conti, Laura; Baralle, Marco; Buratti, Emanuele Journal: Wiley interdisciplinary reviews Issue: Volume 4:Number 1(2013:Jan./Feb.) Page Start: 49 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. Exon and intron definition in pre‐mRNA splicing. (8th October 2012) Authors: De Conti, Laura; Baralle, Marco; Buratti, Emanuele Journal: Wiley interdisciplinary reviews Issue: Volume 4:Number 1(2013:Jan./Feb.) Page Start: 49 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
8. Major hnRNP proteins act as general TDP-43 functional modifiers both in Drosophila and human neuronal cells. Issue 13 (31st May 2017) Authors: Appocher, Chiara; Mohagheghi, Fatemeh; Cappelli, Sara; Stuani, Cristiana; Romano, Maurizio; Feiguin, Fabian; Buratti, Emanuele Journal: Nucleic acids research Issue: Volume 45:Issue 13(2017) Page Start: 8026 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
9. Mice with endogenous TDP‐43 mutations exhibit gain of splicing function and characteristics of amyotrophic lateral sclerosis. (15th May 2018) Authors: Fratta, Pietro; Sivakumar, Prasanth; Humphrey, Jack; Lo, Kitty; Ricketts, Thomas; Oliveira, Hugo; Brito‐Armas, Jose M; Kalmar, Bernadett; Ule, Agnieszka; Yu, Yichao; Birsa, Nicol; Bodo, Cristian; Collins, Toby; Conicella, Alexander E; Mejia Maza, Alan; Marrero‐Gagliardi, Alessandro; Stewart, Mich... Journal: EMBO journal Issue: Volume 37:Number 11(2018) Page Start: n/a Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
10. Mis‐splicing in breast cancer: identification of pathogenic BRCA2 variants by systematic minigene assays. Issue 4 (23rd April 2019) Authors: Fraile‐Bethencourt, Eugenia; Valenzuela‐Palomo, Alberto; Díez‐Gómez, Beatriz; Goina, Elisa; Acedo, Alberto; Buratti, Emanuele; Velasco, Eladio A Journal: Journal of pathology Issue: Volume 248:Issue 4(2019) Page Start: 409 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗