1. A case of Huntington disease‐like 2 in a patient of African ancestry: the everlasting support of clinical examination in the molecular era. Issue 10 (6th October 2022) Authors: Ruscitti, Federica; Origone, Paola; Rosti, Giulia; Trevisan, Lucia; Marchese, Roberta; Brugnolo, Andrea; Massa, Federico; Castellini, Paola; Mandich, Paola Journal: Clinical case reports Issue: Volume 10:Issue 10(2022) Page Start: n/a Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. A misleading presentation of Mohr–Tranebjaerg syndrome: What is hidden behind an axonal neuropathy?. (September 2022) Authors: Geroldi, Alessandro; Trevisan, Lucia; Gaudio, Andrea; Gotta, Fabio; Patrone, Serena; Origone, Paola; Grandis, Marina; Gemelli, Chiara; Schenone, Angelo; Accogli, Andrea; Zara, Federico; Mandich, Paola; Bellone, Emilia Journal: Parkinsonism & related disorders Issue: Volume 102(2022) Page Start: 54 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. A novel mutation in COL3A1 associates to vascular Ehlers–Danlos syndrome with predominant musculoskeletal involvement. Issue 9 (28th July 2021) Authors: Ruscitti, Federica; Trevisan, Lucia; Rosti, Giulia; Gotta, Fabio; Cianflone, Annalia; Geroldi, Alessandro; Origone, Paola; Pichiecchio, Anna; Viglio, Simona; Iascone, Maria; Mandich, Paola Journal: Molecular genetics & genomic medicine Issue: Volume 9:Issue 9(2021) Page Start: n/a Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. A novel mutation of Twinkle in Perrault syndrome: A not rare diagnosis?. (12th April 2020) Authors: Gotta, Fabio; Lamp, Merit; Geroldi, Alessandro; Trevisan, Lucia; Origone, Paola; Fugazza, Giuseppina; Fabbri, Sabrina; Nesti, Claudia; Rubegni, Anna; Morani, Federica; Santorelli, Filippo Maria; Bellone, Emilia; Mandich, Paola Journal: Annals of human genetics Issue: Volume 84:Number 5(2020:Sep.) Page Start: 417 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. An eleven-year history of Vanishing White Matter Disease in an adult patient with no cognitive decline and EIF2B5 mutations. A case report. Issue 6 (2nd November 2021) Authors: Trevisan, Lucia; Grazzini, Matteo; Cianflone, Annalia; Accogli, Andrea; Finocchi, Cinzia; Capello, Elisabetta; Saitta, Laura; Grandis, Marina; Roccatagliata, Luca; Mandich, Paola Journal: Neurocase Issue: Volume 27:Issue 6(2021) Page Start: 452 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. An integrated approach to the evaluation of patients with asymptomatic or minimally symptomatic hyperCKemia. Issue 1 (8th November 2021) Authors: Gemelli, Chiara; Traverso, Monica; Trevisan, Lucia; Fabbri, Sabrina; Scarsi, Elena; Carlini, Barbara; Prada, Valeria; Mongini, Tiziana; Ruggiero, Lucia; Patrone, Serena; Gallone, Salvatore; Iodice, Rosa; Pisciotta, Livia; Zara, Federico; Origone, Paola; Rota, Eugenia; Minetti, Carlo; Bruno, Claud... Journal: Muscle & nerve Issue: Volume 65:Issue 1(2022) Page Start: 96 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. Early onset demyelinating Charcot‐Marie‐Tooth disease caused by a novel in‐frame isoleucine deletion in peripheral myelin protein 2. Issue 2 (4th May 2020) Authors: Geroldi, Alessandro; Prada, Valeria; Veneri, Francesca; Trevisan, Lucia; Origone, Paola; Grandis, Marina; Schenone, Angelo; Gemelli, Chiara; Lanteri, Paola; Fossa, Paola; Mandich, Paola; Bellone, Emilia Journal: Journal of the peripheral nervous system Issue: Volume 25:Issue 2(2020) Page Start: 102 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
8. Germline TP53 pathogenic variants and breast cancer: A narrative review. (March 2023) Authors: Blondeaux, Eva; Arecco, Luca; Punie, Kevin; Graffeo, Rossella; Toss, Angela; De Angelis, Carmine; Trevisan, Lucia; Buzzatti, Giulia; Linn, Sabine C.; Dubsky, Peter; Cruellas, Mara; Partridge, Ann H.; Balmaña, Judith; Paluch-Shimon, Shani; Lambertini, Matteo Journal: Cancer treatment reviews Issue: Volume 114(2023) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
9. Redox switching of an artificial transmembrane signal transduction system. Issue 17 (22nd February 2021) Authors: Trevisan, Lucia; Kocsis, Istvan; Hunter, Christopher A. Journal: Chemical communications Issue: Volume 57:Issue 17(2021) Page Start: 2196 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
10. Toward supramolecular nanozymes for the photocatalytic activation of Pt(iv) anticancer prodrugs. Issue 72 (2nd September 2020) Authors: Mazzei, Laura F.; Martínez, Álvaro; Trevisan, Lucia; Rosa-Gastaldo, Daniele; Cortajarena, Aitziber L.; Mancin, Fabrizio; Salassa, Luca Journal: Chemical communications Issue: Volume 56:Issue 72(2020) Page Start: 10461 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗