LUCCHIARI, SABRINA
LUCCHIARI, SABRINA
Dipartimento di Fisiopatologia Medico-Chirurgica e dei Trapianti
Case report: Sodium and chloride muscle channelopathy coexistence: A complicated phenotype and a challenging diagnosis
2022 S. Pagliarani, G. Meola, M. Filareti, G.P. Comi, S. Lucchiari
Co-occurrence of DMPK expansion and CLCN1 mutation in a patient with myotonia
2021 S. Locci, R. Cardani, P. Brunori, S. Lucchiari, G.P. Comi, A. Federico, N. De Stefano, G. Meola, A. Mignarri
Sodium Channel Myotonia Due to Novel Mutations in Domain I of Nav1.4
2020 S. Pagliarani, S. Lucchiari, M. Scarlato, E. Redaelli, A. Modoni, F. Magri, B. Fossati, S.C. Previtali, V.A. Sansone, M. Lecchi, M. Lo Monaco, G. Meola, G.P. Comi
Elucidating the role of Agl in bladder carcinogenesis by generation and characterization of genetically engineered mice
2019 J.L. Sottnik, V. Mallaredy, A. Chauca-Diaz, C. Ritterson Lew, C. Owens, G.M. Dancik, S. Pagliarani, S. Lucchiari, M. Moggio, M. Ripolone, G.P. Comi, H.F. Frierson, D. Clouthier, D. Theodorescu
The analysis of myotonia congenita mutations discloses functional clusters of amino acids within the CBS2 domain and the C-terminal peptide of the ClC-1 channel
2018 C. Altamura, S. Lucchiari, D. Sahbani, G. Ulzi, G.P. Comi, P. D'Ambrosio, R. Petillo, L. Politano, L. Vercelli, T. Mongini, M.T. Dotti, R. Cardani, G. Meola, M. Lo Monaco, E. Matthews, M.G. Hanna, M.R. Carratù, D. Conte, P. Imbrici, J. Desaphy
Novel Lys215Asn mutation in an Italian family with Thomsen myotonia
2018 V. Mantero, S. Lucchiari, R. Balgera, G.P. Comi, A. Salmaggi, A. Rigamonti
Glucose-free/high-protein diet improves hepatomegaly and exercise intolerance in glycogen storage disease type III mice
2018 S. Pagliarani, S. Lucchiari, G. Ulzi, M. Ripolone, R. Violano, F. Fortunato, A. Bordoni, S. Corti, M. Moggio, N. Bresolin, G.P. Comi
Rescue of GSDIII Phenotype with Gene Transfer Requires Liver- and Muscle-Targeted GDE Expression
2018 P. Vidal, S. Pagliarani, P. Colella, H. Costa Verdera, L. Jauze, M. Gjorgjieva, F. Puzzo, S. Marmier, F. Collaud, M. Simon Sola, S. Charles, S. Lucchiari, L. van Wittenberghe, A. Vignaud, B. Gjata, I. Richard, P. Laforet, E. Malfatti, G. Mithieux, F. Rajas, G.P. Comi, G. Ronzitti, F. Mingozzi
Neuromuscular excitability changes produced by sustained voluntary contraction and response to mexiletine in myotonia congenita
2017 F. Ginanneschi, A. Mignarri, S. Lucchiari, G. Ulzi, G.P. Comi, A. Rossi, M.T. Dotti
Adult polyglucosan body disease in a patient originally diagnosed with Fabry's disease
2014 A. Sagnelli, M. Savoiardo, C. Marchesi, L. Morandi, M. Mora, M. Morbin, L. Farina, A. Mazzeo, A. Toscano, S. Pagliarani, S. Lucchiari, G.P. Comi, E. Salsano, D. Pareyson
In vitro analysis of splice site mutations in the CLCN1 gene using the minigene assay
2014 G. Ulzi, V.A. Sansone, F. Magri, S. Corti, N. Bresolin, G.P. Comi, S. Lucchiari
Clinical evaluation and cellular electrophysiology of a recessive CLCN1 patient
2013 S. Lucchiari, G. Ulzi, F. Magri, M. Bucchia, F. Corbetta, M. Servida, M. Moggio, G.P. Comi, M. Lecchi
Myotonia congenita : novel mutations in CLCN1 gene and functional characterizations in Italian patients
2012 G. Ulzi, M. Lecchi, V. Sansone, E. Redaelli, E. Corti, D. Saccomanno, S. Pagliarani, S.P. Corti, F.M.B. Magri, M. Raimondi, G. D'Angelo, A. Modoni, N. Bresolin, G. Meola, E. Wanke, G.P. Comi, S. Lucchiari
New mutations in SCN4A and their biophysical properties
2011 S. Pagliarani, E. Redaelli, F. Magri, A. Modoni, M. Lecchi, S. Lucchiari, M. Scarlato, G. Silvestri, V. Sansone, S. Previtali, S.P. Corti, A. D’Amico, G. Meola, M. Lo Monaco, E. Wanke, G.P. Comi
One gene, two clinical profiles:novel GBE1 mutations in GSD type IV and Adult Polyglucosan Body Disease.
2009 S. Pagliarani, C. Marchesi, C. Lamperti, S. Lucchiari, L. Morandi, E. Salsano, M. Savoiardo, A. Bordoni, M. Moggio, G.P. Comi, Pareyson
Molecular epidemiology and clinical features of a large Italian cohort of 291 dystrophinopathic patients.
2009 F. Magri, A. Govoni, M.G. D’Angelo, R. Del Bo, S. Tedeschi, S. Ghezzi, R. Virgilio, S. Bonato, S. Gandossini, A. Bordoni, S. Corti, V. Crugnola, A. Prelle, C. Lamperti, M. Moggio, N. Bresolin, G.P. Comi, C. Marchesi, S. Pagliarani, S. Lucchiari, E. Salsano
Phenotypic heterogeneity of GBE1 mutations: congenital glycogen storage disease type IV and adult polyglucosan body disease.
2009 C. Marchesi, S. Pagliarani, S. Lucchiari, L. Morandi, E. Salsano, M. Savoiardo, A. Bordoni, M. Moggio, D. Pareyson, G.P. Comi
Myotonia permanens with neonatal onset associated with a p.Gly1306Glu mutation in the SCN4A gene.
2009 V. Sansone, S. Pagliarani, S. Lucchiari, A. Zanolini, B. Fossati, M.C. Panzeri, G.P. Comi, G. Meola
Novel CLCN1 gene mutation associated with myotonia congenita in Italian patients.
2009 S. Lucchiari, V. Sansone, S. Pagliarani, S. Corti, F. Magri, C. Lamperti, M. Raimondi, M.G. D’Angelo, N. Bresolin, G.P. Comi, G. Meola
Neuropathological study of skeletal muscle, heart, liver, and brainin a neonatal form of glycogen storage disease type IV associated with a newmutation in GBE1 gene
2009 7. . Lamperti, S. Salani, S. Lucchiari, A. Bordoni, M. Ripolone, G. Fagiolari, M. Fruguglietti, V. Crugnola, C. Colombo, A. Cappellini, A. Prelle, N. Bresolin, G.P. Comi, M. Moggio