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Mutations in INPP5K Cause a Form of Congenital Muscular Dystrophy Overlapping Marinesco-Sjögren Syndrome and Dystroglycanopathy.
Osborn DPS, Pond HL, Mazaheri N, Dejardin J, Munn CJ, Mushref K, Cauley ES, Moroni I, Pasanisi MB, Sellars EA, Hill RS, Partlow JN, Willaert RK, Bharj J, Malamiri RA, Galehdari H, Shariati G, Maroofian R, Mora M, Swan LE, Voit T, Conti FJ, Jamshidi Y, Manzini MC. Osborn DPS, et al. Among authors: pasanisi mb. Am J Hum Genet. 2017 Mar 2;100(3):537-545. doi: 10.1016/j.ajhg.2017.01.019. Epub 2017 Feb 9. Am J Hum Genet. 2017. PMID: 28190459 Free PMC article.
SMA-miRs (miR-181a-5p, -324-5p, and -451a) are overexpressed in spinal muscular atrophy skeletal muscle and serum samples.
Abiusi E, Infante P, Cagnoli C, Lospinoso Severini L, Pane M, Coratti G, Pera MC, D'Amico A, Diano F, Novelli A, Spartano S, Fiori S, Baranello G, Moroni I, Mora M, Pasanisi MB, Pocino K, Le Pera L, D'Amico D, Travaglini L, Ria F, Bruno C, Locatelli D, Bertini ES, Morandi LO, Mercuri E, Di Marcotullio L, Tiziano FD. Abiusi E, et al. Among authors: pasanisi mb. Elife. 2021 Sep 20;10:e68054. doi: 10.7554/eLife.68054. Elife. 2021. PMID: 34542403 Free PMC article.
Complete loss of the DNAJB6 G/F domain and novel missense mutations cause distal-onset DNAJB6 myopathy.
Ruggieri A, Brancati F, Zanotti S, Maggi L, Pasanisi MB, Saredi S, Terracciano C, Antozzi C, D Apice MR, Sangiuolo F, Novelli G, Marshall CR, Scherer SW, Morandi L, Federici L, Massa R, Mora M, Minassian BA. Ruggieri A, et al. Among authors: pasanisi mb. Acta Neuropathol Commun. 2015 Jul 25;3:44. doi: 10.1186/s40478-015-0224-0. Acta Neuropathol Commun. 2015. PMID: 26205529 Free PMC article.
Interpreting Genetic Variants in Titin in Patients With Muscle Disorders.
Savarese M, Maggi L, Vihola A, Jonson PH, Tasca G, Ruggiero L, Bello L, Magri F, Giugliano T, Torella A, Evilä A, Di Fruscio G, Vanakker O, Gibertini S, Vercelli L, Ruggieri A, Antozzi C, Luque H, Janssens S, Pasanisi MB, Fiorillo C, Raimondi M, Ergoli M, Politano L, Bruno C, Rubegni A, Pane M, Santorelli FM, Minetti C, Angelini C, De Bleecker J, Moggio M, Mongini T, Comi GP, Santoro L, Mercuri E, Pegoraro E, Mora M, Hackman P, Udd B, Nigro V. Savarese M, et al. Among authors: pasanisi mb. JAMA Neurol. 2018 May 1;75(5):557-565. doi: 10.1001/jamaneurol.2017.4899. JAMA Neurol. 2018. PMID: 29435569 Free PMC article.
Quantitative Muscle MRI Protocol as Possible Biomarker in Becker Muscular Dystrophy.
Maggi L, Moscatelli M, Frangiamore R, Mazzi F, Verri M, De Luca A, Pasanisi MB, Baranello G, Tramacere I, Chiapparini L, Bruzzone MG, Mantegazza R, Aquino D. Maggi L, et al. Among authors: pasanisi mb. Clin Neuroradiol. 2021 Mar;31(1):257-266. doi: 10.1007/s00062-019-00875-0. Epub 2020 Jan 23. Clin Neuroradiol. 2021. PMID: 31974637
Longitudinal evaluation of SMN levels as biomarker for spinal muscular atrophy: results of a phase IIb double-blind study of salbutamol.
Tiziano FD, Lomastro R, Abiusi E, Pasanisi MB, Di Pietro L, Fiori S, Baranello G, Angelini C, Sorarù G, Gaiani A, Mongini T, Vercelli L, Mercuri E, Vasco G, Pane M, Vita G, Vita G, Messina S, Petillo R, Passamano L, Politano L, Campanella A, Mantegazza R, Morandi L. Tiziano FD, et al. Among authors: pasanisi mb. J Med Genet. 2019 May;56(5):293-300. doi: 10.1136/jmedgenet-2018-105482. Epub 2018 Dec 28. J Med Genet. 2019. PMID: 30593463 Clinical Trial.
Amifampridine phosphate in the treatment of muscle-specific kinase myasthenia gravis: a phase IIb, randomized, double-blind, placebo-controlled, double crossover study.
Bonanno S, Pasanisi MB, Frangiamore R, Maggi L, Antozzi C, Andreetta F, Campanella A, Brenna G, Cottini L, Mantegazza R. Bonanno S, et al. Among authors: pasanisi mb. SAGE Open Med. 2018 Dec 17;6:2050312118819013. doi: 10.1177/2050312118819013. eCollection 2018. SAGE Open Med. 2018. PMID: 30574306 Free PMC article.
26 results