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Page 1
The IAAM LTBP4 Haplotype is Protective Against Dystrophin-Deficient Cardiomyopathy.
Bello L, Sabbatini D, Fusto A, Gorgoglione D, Borin GU, Penzo M, Riguzzi P, Villa M, Vianello S, Calore C, Melacini P, Vio R, Barp A, D'Angelo G, Gandossini S, Politano L, Berardinelli A, Messina S, Vita GL, Pedemonte M, Bruno C, Albamonte E, Sansone V, Baranello G, Masson R, Astrea G, D'Amico A, Bertini E, Pane M, Lucibello S, Mercuri E, Spurney C, Clemens P, Morgenroth L, Gordish-Dressman H, McDonald CM, Hoffman EP; CINRG-DNHS Investigators; Pegoraro E. Bello L, et al. Among authors: riguzzi p. J Neuromuscul Dis. 2024;11(2):285-297. doi: 10.3233/JND-230129. J Neuromuscul Dis. 2024. PMID: 38363615 Free PMC article.
Next-generation sequencing application to investigate skeletal muscle channelopathies in a large cohort of Italian patients.
Brugnoni R, Maggi L, Canioni E, Verde F, Gallone A, Ariatti A, Filosto M, Petrelli C, Logullo FO, Esposito M, Ruggiero L, Tonin P, Riguzzi P, Pegoraro E, Torri F, Ricci G, Siciliano G, Silani V, Merlini L, De Pasqua S, Liguori R, Pini A, Mariotti C, Moroni I, Imbrici P, Desaphy JF, Mantegazza R, Bernasconi P. Brugnoni R, et al. Among authors: riguzzi p. Neuromuscul Disord. 2021 Apr;31(4):336-347. doi: 10.1016/j.nmd.2020.12.003. Epub 2020 Dec 14. Neuromuscul Disord. 2021. PMID: 33573884
Genotype-phenotype correlations in valosin-containing protein disease: a retrospective muticentre study.
Schiava M, Ikenaga C, Villar-Quiles RN, Caballero-Ávila M, Topf A, Nishino I, Kimonis V, Udd B, Schoser B, Zanoteli E, Souza PVS, Tasca G, Lloyd T, Lopez-de Munain A, Paradas C, Pegoraro E, Nadaj-Pakleza A, De Bleecker J, Badrising U, Alonso-Jiménez A, Kostera-Pruszczyk A, Miralles F, Shin JH, Bevilacqua JA, Olivé M, Vorgerd M, Kley R, Brady S, Williams T, Domínguez-González C, Papadimas GK, Warman-Chardon J, Claeys KG, de Visser M, Muelas N, LaForet P, Malfatti E, Alfano LN, Nair SS, Manousakis G, Kushlaf HA, Harms MB, Nance C, Ramos-Fransi A, Rodolico C, Hewamadduma C, Cetin H, García-García J, Pál E, Farrugia ME, Lamont PJ, Quinn C, Nedkova-Hristova V, Peric S, Luo S, Oldfors A, Taylor K, Ralston S, Stojkovic T, Weihl C, Diaz-Manera J; VCP International Study Group; VCP International Study Group. Schiava M, et al. J Neurol Neurosurg Psychiatry. 2022 Jul 27:jnnp-2022-328921. doi: 10.1136/jnnp-2022-328921. Online ahead of print. J Neurol Neurosurg Psychiatry. 2022. PMID: 35896379 Free PMC article.
IRF2BPL as a novel causative gene for progressive myoclonus epilepsy.
Gardella E, Michelucci R, Christensen HM, Fenger CD, Reale C, Riguzzi P, Pasini E, Albini-Riccioli L, Papa V, Foschini MP, Cenacchi G, Furia F, Marjanovic D, Hammer TB, Møller RS, Rubboli G. Gardella E, et al. Among authors: riguzzi p. Epilepsia. 2023 Aug;64(8):e170-e176. doi: 10.1111/epi.17634. Epub 2023 Jun 8. Epilepsia. 2023. PMID: 37114479
Epileptic phenotypes in autoimmune encephalitis: from acute symptomatic seizures to autoimmune-associated epilepsy.
Matricardi S, Casciato S, Bozzetti S, Mariotto S, Stabile A, Freri E, Deleo F, Sartori S, Nosadini M, Pappalardo I, Meletti S, Giovannini G, Zucchi E, Di Bonaventura C, Di Gennaro G, Ferrari S, Zuliani L, Zoccarato M, Vogrig A, Lattanzi S, Michelucci R, Gambardella A, Ferlazzo E, Fusco L, Granata T, Villani F; Immune Epilepsies Study Group of the Italian League Against Epilepsy. Matricardi S, et al. J Neurol Neurosurg Psychiatry. 2022 Jul 25:jnnp-2022-329195. doi: 10.1136/jnnp-2022-329195. Online ahead of print. J Neurol Neurosurg Psychiatry. 2022. PMID: 35879055
Risk of hospitalization and death for COVID-19 in persons with epilepsy over a 20-month period: The EpiLink Bologna cohort, Italy.
Muccioli L, Zenesini C, Taruffi L, Licchetta L, Mostacci B, Di Vito L, Pasini E, Volpi L, Riguzzi P, Ferri L, Baccari F, Nonino F, Michelucci R, Tinuper P, Vignatelli L, Bisulli F. Muccioli L, et al. Among authors: riguzzi p. Epilepsia. 2022 Sep;63(9):2279-2289. doi: 10.1111/epi.17356. Epub 2022 Jul 17. Epilepsia. 2022. PMID: 35778963 Free PMC article.
Iatrogenic ictal asystole.
Pasini E, Riguzzi P, Michelucci R. Pasini E, et al. Among authors: riguzzi p. J Neurol Sci. 2022 Mar 15;434:120183. doi: 10.1016/j.jns.2022.120183. Epub 2022 Feb 8. J Neurol Sci. 2022. PMID: 35151939
Progressive Myoclonus Epilepsies: Diagnostic Yield With Next-Generation Sequencing in Previously Unsolved Cases.
Canafoglia L, Franceschetti S, Gambardella A, Striano P, Giallonardo AT, Tinuper P, Di Bonaventura C, Michelucci R, Ferlazzo E, Granata T, Magaudda A, Licchetta L, Filla A, La Neve A, Riguzzi P, Cantisani TA, Fanella M, Castellotti B, Gellera C, Bahlo M, Zara F, Courage C, Lehesjoki AE, Oliver KL, Berkovic SF. Canafoglia L, et al. Among authors: riguzzi p. Neurol Genet. 2021 Nov 12;7(6):e641. doi: 10.1212/NXG.0000000000000641. eCollection 2021 Dec. Neurol Genet. 2021. PMID: 34786481 Free PMC article.
61 results