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Items: 7


A Novel CAPN1 Mutation Causes a Pure Hereditary Spastic Paraplegia in an Italian Family.

Cotti Piccinelli S, Bassi MT, Citterio A, Manganelli F, Tozza S, Santorelli FM, Gallo Cassarino S, Caria F, Baldelli E, Galvagni A, Santoro L, Padovani A, Filosto M.

Front Neurol. 2019 Jun 5;10:580. doi: 10.3389/fneur.2019.00580. eCollection 2019.


Assessing the Role of Anti rh-GAA in Modulating Response to ERT in a Late-Onset Pompe Disease Cohort from the Italian GSDII Study Group.

Filosto M, Cotti Piccinelli S, Ravaglia S, Servidei S, Moggio M, Musumeci O, Donati MA, Pegoraro E, Di Muzio A, Maggi L, Tonin P, Marrosu G, Sancricca C, Lerario A, Sacchini M, Semplicini C, Bozzoni V, Telese R, Bonanno S, Piras R, Maioli MA, Ricci G, Vercelli L, Galvagni A, Gallo Cassarino S, Caria F, Mongini T, Siciliano G, Padovani A, Toscano A.

Adv Ther. 2019 May;36(5):1177-1189. doi: 10.1007/s12325-019-00926-5. Epub 2019 Mar 16.


Late and Severe Myopathy in a Patient With Glycogenosis VII Worsened by Cyclosporine and Amiodarone.

Filosto M, Cotti Piccinelli S, Pichiecchio A, Musumeci O, Galvagni A, Caria F, Gallo Cassarino S, Baldelli E, Vitale R, Padovani A, Toscano A.

Front Neurol. 2019 Feb 7;10:77. doi: 10.3389/fneur.2019.00077. eCollection 2019.


Muscle pain in mitochondrial diseases: a picture from the Italian network.

Filosto M, Cotti Piccinelli S, Lamperti C, Mongini T, Servidei S, Musumeci O, Tonin P, Santorelli FM, Simoncini C, Primiano G, Vercelli L, Rubegni A, Galvagni A, Moggio M, Comi GP, Carelli V, Toscano A, Padovani A, Siciliano G, Mancuso M.

J Neurol. 2019 Apr;266(4):953-959. doi: 10.1007/s00415-019-09219-x. Epub 2019 Feb 2.


Mitochondrial Neurogastrointestinal Encephalomyopathy (MNGIE-MTDPS1).

Filosto M, Cotti Piccinelli S, Caria F, Gallo Cassarino S, Baldelli E, Galvagni A, Volonghi I, Scarpelli M, Padovani A.

J Clin Med. 2018 Oct 26;7(11). pii: E389. doi: 10.3390/jcm7110389. Review.


Muscle biopsy displaying "double trouble" pathology: Combined features of periodic paralysis and dermatomyositis.

Filosto M, Galvagni A, Fagiolari G, Caria F, Cotti Piccinelli S, Marchesi M, Gallo Cassarino S, Baronchelli C, Moggio M, Padovani A.

Clin Neuropathol. 2018 Jul/Aug;37(4):196-198. doi: 10.5414/NP301101. No abstract available.


A novel mitochondrial tRNA(Ala) gene variant causes chronic progressive external ophthalmoplegia in a patient with Huntington disease.

Filosto M, Lanzi G, Nesti C, Vielmi V, Marchina E, Galvagni A, Giliani S, Santorelli FM, Padovani A.

Mol Genet Metab Rep. 2016 Feb 27;6:70-3. doi: 10.1016/j.ymgmr.2016.02.001. eCollection 2016 Mar.

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