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 Arg147Trp MATR3 missense mutation in a slowly progressive ALS Italian patient. Issue 7 (27th November 2015) Authors: Origone, Paola; Verdiani, Simonetta; Bandettini Di Poggio, Monica; Zuccarino, Riccardo; Vignolo, Manuela; Caponnetto, Claudia; Mandich, Paola Journal: Amyotrophic lateral sclerosis and frontotemporal degeneration Issue: Volume 16:Issue 7/8(2015) Page Start: 530 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. 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) ↗
5. 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) ↗
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. Clinical epidemiology of ALS in Liguria, Italy. Issue 1 (January 2013) Authors: Bandettini di Poggio, Monica; Sormani, Maria Pia; Truffelli, Romina; Mandich, Paola; Origone, Paola; Verdiani, Simonetta; Mantero, Vittorio; Scialó, Carlo; Schenone, Angelo; Mancardi, Giovanni Luigi; Caponnetto, Claudia Journal: Amyotrophic lateral sclerosis and frontotemporal degeneration Issue: Volume 14:Issue 1(2013) Page Start: 52 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
8. Clinical epidemiology of amyotrophic lateral sclerosis in Liguria, Italy: An update of LIGALS register. Issue 7 (16th November 2016) Authors: Scialò, Carlo; Novi, Giovanni; Bandettini di Poggio, Monica; Canosa, Antonio; Sormani, Maria Pia; Mandich, Paola; Origone, Paola; Truffelli, Romina; Mancardi, Giovanni Luigi; Caponnetto, Claudia Journal: Amyotrophic lateral sclerosis and frontotemporal degeneration Issue: Volume 17:Issue 7/8(2016) Page Start: 535 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
9. Complexities of Genetic Counseling for ALS: A Case of Two Siblings with Discordant Genetic Test Results. Issue 4 (7th April 2015) Authors: Mandich, Paola; Mantero, Vittorio; Verdiani, Simonetta; Gotta, Fabio; Caponnetto, Claudia; Bellone, Emilia; Ferrandes, Giovanna; Origone, Paola Journal: Journal of genetic counseling Issue: Volume 24:Issue 4(2015) Page Start: 553 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
10. 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) ↗