C. Lamperti
University of Pisa
17 Papers
216 Citations
C. Lamperti is an academic researcher from University of Pisa. The author has contributed to research in topics: Mitochondrial disease & Mitochondrial DNA. The author has an hindex of 10, co-authored 17 publications.
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Papers
Late-onset cerebellar ataxia with hypogonadism and muscle coenzyme Q10 deficiency
M. Gironi,C. Lamperti,Raffaello Nemni,Maurizio Moggio,Giacomo P. Comi,Franca Rosa Guerini,Pasquale Ferrante,Nicola Canal,Ali Naini,Nereo Bresolin,Salvatore DiMauro +10 more
TL;DR: Two brothers with late-onset progressive ataxia, cerebellar atrophy, and hypergonadotropic hypogonadism associated with coenzyme Q10 (CoQ10) deficiency in skeletal muscle improved on high-dose CoQ10 supplementation, stressing the importance of Co Q10 deficiency in the differential diagnosis of cerebellary ataxIA, even when onset is late.
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A CAV3 microdeletion differentially affects skeletal muscle and myocardium
Rachele Cagliani,Nereo Bresolin,Alessandro Prelle,A. Gallanti,Francesco Fortunato,Manuela Sironi,P. Ciscato,Gigliola Fagiolari,Sara Bonato,Sara Galbiati,Stefania Corti,C. Lamperti,Maurizio Moggio,Giacomo P. Comi +13 more
TL;DR: Cagliani et al. as mentioned in this paper observed a 40% reduction of caveolin-3 in the myocardium of a single patient and concluded that this mutation affects skeletal muscle and myocardia differentially.
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Revisiting mitochondrial ocular myopathies: a study from the Italian Network
Daniele Orsucci,Corrado Angelini,Enrico Bertini,Valerio Carelli,Giacomo P. Comi,Antonio Federico,Carlo Minetti,Maurizio Moggio,Tiziana Mongini,Filippo M. Santorelli,S. Servidei,Paola Tonin,Anna Ardissone,Luca Bello,Claudio Bruno,E. Caldarazzo Ienco,Daria Diodato,Massimiliano Filosto,C. Lamperti,Isabella Moroni,Olimpia Musumeci,Elena Pegoraro,Guido Primiano,Dario Ronchi,Anna Rubegni,Simona Salvatore,M. Sciacco,Maria Lucia Valentino,Liliana Vercelli,Antonio Toscano,Massimo Zeviani,Gabriele Siciliano,Michelangelo Mancuso +32 more
TL;DR: Ocular myopathy was the most common feature in a large cohort of mitochondrial patients and reinforces the need for research on the role of gender in mitochondrial diseases.
Eight novel mutations in SPG4 gene in a large sample of patients with hereditary spastic paraplegia
Andrea Martinuzzi,F. Crippa,Chris Panzeri,Alessia Arnoldi,Francesca Redaelli,Alessandra Tonelli,C Baschirotto,Maria Luisa Mostacciuolo,Andrea Daga,Maria Grazia D'Angelo,Paolo Profice,Giacomo P. Comi,Sara Galbiati,C. Lamperti,Massimo Pandolfo,G. Meola,Olimpia Musumeci,A. Toscano,Carlo P. Trevisan,Nereo Bresolin,M. T. Bassi +20 more
- 14 Mar 2006
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Neuropathological study of skeletal muscle, heart, liver, and brain in a neonatal form of glycogen storage disease type IV associated with a new mutation in GBE1 gene.
C. Lamperti,Sabrina Salani,Sabrina Lucchiari,Andreina Bordoni,Michela Ripolone,Gigliola Fagiolari,M.E. Fruguglietti,V. Crugnola,C. Colombo,A. Cappellini,Alessandro Prelle,Nereo Bresolin,Giacomo P. Comi,Maurizio Moggio +13 more
TL;DR: This work reports the case of an infant who presented severe hypotonia, dilatative cardiomyopathy, mild hepatopathy, and brain lateral ventricle haemorrhage, features consistent with the congenital form of GSD IV, and reveals a novel homozygous nonsense mutation, p.E152X, correlated with the lack of enzyme activity and with the severe neonatal involvement.
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