1. Analysis of STMN2 CA repeats in italian ALS patients shows no association. Issue 1 (2nd January 2023) Authors: Doronzio, Paolo Niccolò; Lattante, Serena; Marangi, Giuseppe; Martello, Francesco; Conte, Amelia; Bisogni, Giulia; Bernardo, Daniela; Patanella, Agata Katia; Meleo, Emiliana; Zollino, Marcella; Sabatelli, Mario Journal: Amyotrophic lateral sclerosis and frontotemporal degeneration Issue: Volume 24:Issue 1/2(2023) Page Start: 152 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. ATTRv amyloidosis Italian Registry: clinical and epidemiological data. (1st October 2020) Authors: Russo, Massimo; Obici, Laura; Bartolomei, Ilaria; Cappelli, Francesco; Luigetti, Marco; Fenu, Silvia; Cavallaro, Tiziana; Chiappini, Maria Grazia; Gemelli, Chiara; Pradotto, Luca Guglielmo; Manganelli, Fiore; Leonardi, Luca; My, Filomena; Sampaolo, Simone; Briani, Chiara; Gentile, Luca; Stancanel... Journal: Amyloid Issue: Volume 27:Number 4(2020) Page Start: 259 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. Evaluating the contribution of the gene TARDBP in Italian patients with amyotrophic lateral sclerosis. (23rd February 2023) Authors: Lattante, Serena; Sabatelli, Mario; Bisogni, Giulia; Marangi, Giuseppe; Doronzio, Paolo Niccolò; Martello, Francesco; Renzi, Anna Gloria; Del Giudice, Elda; Leon, Alberta; Cimbolli, Paola; Marchione, Daniela; Costantino, Umberto; Lucioli, Gabriele; Bernardo, Daniela; Meleo, Emiliana; Patanel... Journal: European journal of neurology Issue: Volume 30:Number 5(2023) Page Start: 1246 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. Isolated light chain deposition disease neuropathy in a patient with multiple myeloma. (2nd January 2020) Authors: Romano, Angela; Riso, Vittorio; Bisogni, Giulia; Di Paolantonio, Andrea; Rossi, Elena; Sabatelli, Mario; Servidei, Serenella; Luigetti, Marco Journal: Amyloid Issue: Volume 27:Number 1(2020) Page Start: 67 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. Long-term safety and efficacy of patisiran for hereditary transthyretin-mediated amyloidosis with polyneuropathy: 12-month results of an open-label extension study. Issue 1 (January 2021) Authors: Adams, David; Polydefkis, Michael; González-Duarte, Alejandra; Wixner, Jonas; Kristen, Arnt V; Schmidt, Hartmut H; Berk, John L; Losada López, Inés Asunción; Dispenzieri, Angela; Quan, Dianna; Conceição, Isabel M; Slama, Michel S; Gillmore, Julian D; Kyriakides, Theodoros; Ajroud-Driss, Senda; Wa... Journal: Lancet neurology Issue: Volume 20:Issue 1(2021) Page Start: 49 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. Long-term safety and efficacy of patisiran for hereditary transthyretin-mediated amyloidosis with polyneuropathy: 12-month results of an open-label extension study. Issue 1 (January 2021) Authors: Adams, David; Polydefkis, Michael; González-Duarte, Alejandra; Wixner, Jonas; Kristen, Arnt V; Schmidt, Hartmut H; Berk, John L; Losada López, Inés Asunción; Dispenzieri, Angela; Quan, Dianna; Conceição, Isabel M; Slama, Michel S; Gillmore, Julian D; Kyriakides, Theodoros; Ajroud-Driss, Senda; Wa... Journal: Lancet neurology Issue: Volume 20:Issue 1(2021) Page Start: 49 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. Novel variants and cellular studies on patients' primary fibroblasts support a role for NEK1 missense variants in ALS pathogenesis. Issue 1 (14th January 2021) Authors: Lattante, Serena; Doronzio, Paolo Niccolò; Conte, Amelia; Marangi, Giuseppe; Martello, Francesco; Bisogni, Giulia; Meleo, Emiliana; Colavito, Davide; Del Giudice, Elda; Patanella, Agata Katia; Bernardo, Daniela; Romano, Angela; Zollino, Marcella; Sabatelli, Mario Journal: Human molecular genetics Issue: Volume 30:Issue 1(2021) Page Start: 65 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
8. Progressive axonal polyneuropathy in a mitochondrial disorder: an uncommon association with familial amyloid neuropathy. (2nd October 2018) Authors: Luigetti, Marco; Primiano, Guido; Bisogni, Giulia; Cuccagna, Cristina; Carrozzo, Rosalba; Obici, Laura; Bernardo, Daniela; Sancricca, Cristina; Servidei, Serenella Journal: Amyloid Issue: Volume 25:Number 4(2018) Page Start: 261 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
9. Pupillometric findings in ATTRv patients and carriers: results from a single-centre experience. (2nd October 2022) Authors: Romano, Angela; Guglielmino, Valeria; Di Paolantonio, Andrea; Bisogni, Giulia; Sabatelli, Mario; Della Marca, Giacomo; Minnella, Angelo Maria; Maceroni, Martina; Bellavia, Simone; Scala, Irene; Sabatelli, Eleonora; Rollo, Eleonora; Luigetti, Marco Journal: Amyloid Issue: Volume 29:Number 4(2022) Page Start: 270 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
10. Sudoscan in the evaluation and follow-up of patients and carriers with TTR mutations: experience from an Italian Centre. (2nd October 2018) Authors: Luigetti, Marco; Bisogni, Giulia; Romano, Angela; Di Paolantonio, Andrea; Barbato, Francesco; Primicerio, Giulia; Rossini, Paolo Maria; Servidei, Serenella; Sabatelli, Mario Journal: Amyloid Issue: Volume 25:Number 4(2018) Page Start: 242 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗