A novel gain‐of‐function mutation in ORAI1 causes late‐onset tubular aggregate myopathy and congenital miosis
Garibaldi, M., Fattori, F., Riva, B., Labasse, C., Brochier, G., Ottaviani, P., Sacconi, S., Vizzaccaro, E., Laschena, F., Romero, N.B., Genazzani, A., Bertini, E., Antonini, G.
Published in Clinical genetics (01.05.2017)
Published in Clinical genetics (01.05.2017)
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Supratentorial and pontine MRI abnormalities characterize recessive spastic ataxia of Charlevoix-Saguenay. A comprehensive study of an Italian series
Prodi, E., Grisoli, M., Panzeri, M., Minati, L., Fattori, F., Erbetta, A., Uziel, G., D'Arrigo, S., Tessa, A., Ciano, C., Santorelli, F. M., Savoiardo, M., Mariotti, C.
Published in European journal of neurology (01.01.2013)
Published in European journal of neurology (01.01.2013)
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Journal Article
Expanding the histopathological spectrum of CFL2‐related myopathies
Fattori, F., Fiorillo, C., Rodolico, C., Tasca, G., Verardo, M., Bellacchio, E., Pizzi, S., Ciolfi, A., Fagiolari, G., Lupica, A., Broda, P., Pedemonte, M., Moggio, M., Bruno, C., Tartaglia, M., Bertini, E., D'Amico, A.
Published in Clinical genetics (01.06.2018)
Published in Clinical genetics (01.06.2018)
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Journal Article
Neuromyopathy with cataracts and glaucoma: A novel syndrome caused by recessive mutations in POLG1
Castiglioni, C, Bertini, E, Udd, B, Avaria, M, Fattori, F, Carrozzo, R, Tasca, G
Published in Neuromuscular disorders : NMD (01.10.2016)
Published in Neuromuscular disorders : NMD (01.10.2016)
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Journal Article
Dominant BIN1-related centronuclear myopathy (CNM) revealed by lower limb myalgia and moderate CK elevation
Garibaldi, M, Romero, N, Böhm, J, Ottaviani, P, Fattori, F, Laschena, F, Laporte, J, Bertini, E, Antonini, G
Published in Neuromuscular disorders : NMD (01.10.2015)
Published in Neuromuscular disorders : NMD (01.10.2015)
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Journal Article
Muscle imaging in STIM1-mutated tubular aggregate myopathy patients
Tasca, G, D'Amico, A, Monforte, M, Nadaj-Pakleza, A, Vialle, M, Fattori, F, Vissing, J, Ricci, E, Bertini, E
Published in Neuromuscular disorders : NMD (01.10.2015)
Published in Neuromuscular disorders : NMD (01.10.2015)
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Journal Article
Clinical, pathology and imaging heterogeneity in autosomal recessive RYR1 -related myopathy
Tasca, G, Fattori, F, Cassandrini, D, Catteruccia, M, Verardo, M, Vasco, G, Monforte, M, Ricci, E, Bertini, E, D'Amico, A
Published in Neuromuscular disorders : NMD (01.10.2015)
Published in Neuromuscular disorders : NMD (01.10.2015)
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Journal Article
Novel GYG1 mutation causing late-onset polyglucosan body myopathy with nemaline rods
Tasca, G, Fattori, F, Monforte, M, Hedberg-Oldfors, C, Sabatelli, M, Udd, B, Boldrini, R, Bertini, E, Ricci, E, Oldfors, A
Published in Neuromuscular disorders : NMD (01.10.2016)
Published in Neuromuscular disorders : NMD (01.10.2016)
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Journal Article
Tubular aggregate myopathy with miosis caused by a novel mutation in ORAI1
Garibaldi, M, Fattori, F, Riva, B, Labasse, C, Brochier, G, Ottaviani, P, Laschena, F, Romero, N, Genazzani, A, Bertini, E, Antonini, G
Published in Neuromuscular disorders : NMD (01.10.2016)
Published in Neuromuscular disorders : NMD (01.10.2016)
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Journal Article
X-linked myotubular myopathy in females
Fiorillo, C, Fattori, F, Astrea, G, Pedemonte, M, Rubegni, A, Trucco, F, Tessa, A, Savarese, M, Baldacci, J, Broda, P, Bertini, E, Minetti, C, Nigro, V, Bruno, C, Santorelli, F
Published in Neuromuscular disorders : NMD (01.10.2015)
Published in Neuromuscular disorders : NMD (01.10.2015)
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Journal Article
Late-onset congenital myopathies: Clinical and molecular features
Maggi, L, Colombo, I, Fattori, F, Fiorillo, C, Vita, G, Magri, F, Pane, M, D'Amico, A, Bernasconi, P, Mora, M, Messina, S, Santorelli, F, Mercuri, E, Bertini, E, Pegoraro, E, Comi, G, Moggio, M, Morandi, L, Bruno, C
Published in Neuromuscular disorders : NMD (01.10.2015)
Published in Neuromuscular disorders : NMD (01.10.2015)
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Journal Article
P.9.9 A novel de novo mutation in ACTA1 causes a congenital myopathy with misleading type 1 fiber predominance and a peculiar MRI
Castiglioni, C, Cassandrini, D, Fattori, F, Bellacchio, E, Alvarez, K, D’Amico, A, Gejman, R, Díaz, J, Santorelli, F.M, Bevilacqua, J.A, Bertini, E
Published in Neuromuscular disorders : NMD (01.10.2013)
Published in Neuromuscular disorders : NMD (01.10.2013)
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Journal Article
P.9.15 Centronuclear myopathies: The experience of Italian Network for congenital myopathies
Fattori, F, Maggi, L, Bruno, C, Codemo, V, Tasca, G, Battini, R, Berardinelli, A, Catteruccia, M, Cassandrini, D, Fiorillo, C, Pane, M, Pegoraro, E, Mora, M, Morandi, L, Comi, P.G, Mercuri, E, Santoro, L, Santorelli, F.M, Bertini, E, D’Amico, A
Published in Neuromuscular disorders : NMD (01.10.2013)
Published in Neuromuscular disorders : NMD (01.10.2013)
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Journal Article
Molecular diagnosis of known recessive ataxias by homozygosity mapping with SNP arrays
H’mida-Ben Brahim, D., M’zahem, A., Assoum, M., Bouhlal, Y., Fattori, F., Anheim, M., Ali-Pacha, L., Ferrat, F., Chaouch, M., Lagier-Tourenne, C., Drouot, N., Thibaut, C., Benhassine, T., Sifi, Y., Stoppa-Lyonnet, D., N’Guyen, K., Poujet, J., Hamri, A., Hentati, F., Amouri, R., Santorelli, F. M., Tazir, M., Koenig, M.
Published in Journal of neurology (2011)
Published in Journal of neurology (2011)
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Journal Article
P3.1 Brown–Vialetto–Van Laere and Fazio Londe overlap sindromes: A clinical, biochemical and genetic study in 6 patients
Bertini, E, Ciccolella, M, Catteruccia, M, Benedetti, S, D’Amico, A, Fattori, F, Letizia Salsano, M, Carletti, B, Tozzi, G, Piemonte, F, Moroni, I, Pantaleoni, C
Published in Neuromuscular disorders : NMD (01.10.2011)
Published in Neuromuscular disorders : NMD (01.10.2011)
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Journal Article
A novel mutation in the SACS gene associated with a complicated form of spastic ataxia
Masciullo, M., Modoni, A., Fattori, F., Santoro, M., Denora, P. S., Tonali, P., Santorelli, F. M., Silvestri, G.
Published in Journal of neurology (01.09.2008)
Published in Journal of neurology (01.09.2008)
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Further pitfalls in the diagnosis of mtDNA mutations: homoplasmic mt-tRNA mutations
Tuppen, H A L, Fattori, F, Carrozzo, R, Zeviani, M, DiMauro, S, Seneca, S, Martindale, J E, Olpin, S E, Treacy, E P, McFarland, R, Santorelli, F M, Taylor, R W
Published in Journal of medical genetics (01.01.2008)
Published in Journal of medical genetics (01.01.2008)
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Journal Article
VP188 Novel PIEZO2 variants in a cohort of arthrogryposis syndrome
Jofre, J., Suarez, B., Calcagno, G., Hervias, C., Fattori, F., Bertini, E., Castiglioni, C.
Published in Neuromuscular disorders : NMD (01.10.2023)
Published in Neuromuscular disorders : NMD (01.10.2023)
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Assessing district heating potential at large scale: Presentation and application of a spatially-detailed model to optimally match heat sources and demands
Spirito, G., Dénarié, A., Fattori, F., Muliere, G., Motta, M., Persson, U.
Published in Applied energy (15.10.2024)
Published in Applied energy (15.10.2024)
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