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Carlo Minetti

This is a preview profile on BiomedExperts - the first literature-based scientific social network. It brings the right researchers together and allows them to collaborate online. Collexis and Dell provide the BiomedExperts network of +1.5 Million pre-calculated profiles free of charge to researchers worldwide.

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Mercier Isabelle; Jasmin Jean-Francois; Pavlides Stephanos; Minetti Carlo; Flomenberg Neal; Pestell Richard G; Frank Philippe G; Sotgia Federica; Lisanti Michael P
Clinical and translational implications of the caveolin gene family: lessons from mouse models and human genetic disorders.
Striano Pasquale; de Falco Fabrizio A; Minetti Carlo; Zara Federico
Familial benign nonprogressive myoclonic epilepsies.
Bonuccelli Gloria; Casimiro Mathew C; Sotgia Federica; Wang Chenguang; Liu Manran; Katiyar Sanjay; Zhou Jie; Dew Elliott; Capozza Franco; Daumer Kristin M; Minetti Carlo; Milliman Janet N; Alpy Fabien; Rio Marie-Christine; Tomasetto Catherine; Mercier Isabelle; Flomenberg Neal; Frank Philippe G; Pestell Richard G; Lisanti Michael P
Caveolin-1 (P132L), a common breast cancer mutation, confers mammary cell invasiveness and defines a novel stem cell/metastasis-associated gene signature.

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All Publications

2009: Mercier Isabelle; Jasmin Jean-Francois; Pavlides Stephanos; Minetti Carlo; Flomenberg Neal; Pestell Richard G; Frank Philippe G; Sotgia Federica; Lisanti Michael P
Clinical and translational implications of the caveolin gene family: lessons from mouse models and human genetic disorders.
Laboratory investigation; a journal of technical methods and pathology 2009;89(6):614-23.
2009: Striano Pasquale; de Falco Fabrizio A; Minetti Carlo; Zara Federico
Familial benign nonprogressive myoclonic epilepsies.
Epilepsia 2009;50 Suppl 5():37-40.
2009: Bonuccelli Gloria; Casimiro Mathew C; Sotgia Federica; Wang Chenguang; Liu Manran; Katiyar Sanjay; Zhou Jie; Dew Elliott; Capozza Franco; Daumer Kristin M; Minetti Carlo; Milliman Janet N; Alpy Fabien; Rio Marie-Christine; Tomasetto Catherine; Mercier Isabelle; Flomenberg Neal; Frank Philippe G; Pestell Richard G; Lisanti Michael P
Caveolin-1 (P132L), a common breast cancer mutation, confers mammary cell invasiveness and defines a novel stem cell/metastasis-associated gene signature.
The American journal of pathology 2009;174(5):1650-62.
2009: Sotgia Federica; Del Galdo Francesco; Casimiro Mathew C; Bonuccelli Gloria; Mercier Isabelle; Whitaker-Menezes Diana; Daumer Kristin M; Zhou Jie; Wang Chenguang; Katiyar Sanjay; Xu Huan; Bosco Emily; Quong Andrew A; Aronow Bruce; Witkiewicz Agnieszka K; Minetti Carlo; Frank Philippe G; Jimenez Sergio A; Knudsen Erik S; Pestell Richard G; Lisanti Michael P
Caveolin-1-/- null mammary stromal fibroblasts share characteristics with human breast cancer-associated fibroblasts.
The American journal of pathology 2009;174(3):746-61.
2009: Sotgia Federica; Casimiro Mathew C; Bonuccelli Gloria; Liu Manran; Whitaker-Menezes Diana; Er Ozlem; Daumer Kristin M; Mercier Isabelle; Witkiewicz Agnieszka K; Minetti Carlo; Capozza Franco; Gormley Michael; Quong Andrew A; Rui Hallgeir; Frank Philippe G; Milliman Janet N; Knudsen Erik S; Zhou Jie; Wang Chenguang; Pestell Richard G; Lisanti Michael P
Loss of caveolin-3 induces a lactogenic microenvironment that is protective against mammary tumor formation.
The American journal of pathology 2009;174(2):613-29.
2009: Biancheri Roberta; Ciccolella Marianna; Rossi Andrea; Tessa Alessandra; Cassandrini Denise; Minetti Carlo; Santorelli Filippo M
White matter lesions in spastic paraplegia with mutations in SPG5/CYP7B1.
Neuromuscular disorders : NMD 2009;19(1):62-5.
2009: Striano Pasquale; Zara Federico; Minetti Carlo; Striano Salvatore
Chitosan may decrease serum valproate and increase the risk of seizure reappearance.
BMJ (Clinical research ed.) 2009;339():b3751.
2008: Assereto Stefania; Mastrototaro Mauro; Stringara Silvia; Gazzerro Elisabetta; Broda Paolo; Nicchia Grazia Paola; Svelto Maria; Bruno Claudio; Nigro Vincenzo; Lisanti M P; Frigeri Antonio; Minetti Carlo
Aquaporin-4 expression is severely reduced in human sarcoglycanopathies and dysferlinopathies.
Cell cycle (Georgetown, Tex.) 2008;7(14):2199-207.
2008: Viassolo V; Previtali S C; Schiatti E; Magnani G; Minetti C; Zara F; Grasso M; Dagna-Bricarelli F; Di Maria E
Inclusion body myopathy, Paget's disease of the bone and frontotemporal dementia: recurrence of the VCP R155H mutation in an Italian family and implications for genetic counselling.
Clinical genetics 2008;74(1):54-60.
2008: Bruno Claudio; Bertini Enrico; Di Rocco Maja; Cassandrini Denise; Ruffa Giuseppe; De Toni Teresa; Seri Marco; Spada Marco; Li Volti Giovanni; D'Amico Adele; Trucco Federica; Arca Marcello; Casali Carlo; Angelini Corrado; Dimauro Salvatore; Minetti Carlo
Clinical and genetic characterization of Chanarin-Dorfman syndrome.
Biochemical and biophysical research communications 2008;369(4):1125-8.
2008: Madia Francesca; Striano Pasquale; Di Bonaventura Carlo; de Falco Arturo; de Falco Fabrizio A; Manfredi Mario; Casari Giorgio; Striano Salvatore; Minetti Carlo; Zara Federico
Benign adult familial myoclonic epilepsy (BAFME): evidence of an extended founder haplotype on chromosome 2p11.1-q12.2 in five Italian families.
Neurogenetics 2008;9(2):139-42.
2008: Striano Pasquale; Striano Salvatore; Minetti Carlo; Zara Federico
Refractory, life-threatening status epilepticus in a 3-year-old girl.
Lancet neurology 2008;7(3):278-84.
2008: Traverso Monica; Gazzerro Elisabetta; Assereto Stefania; Sotgia Federica; Biancheri Roberta; Stringara Silvia; Giberti Laura; Pedemonte Marina; Wang Xiabo; Scapolan Sara; Pasquini Elisabetta; Donati Maria A; Zara Federico; Lisanti Michael P; Bruno Claudio; Minetti Carlo
Caveolin-3 T78M and T78K missense mutations lead to different phenotypes in vivo and in vitro.
Laboratory investigation; a journal of technical methods and pathology 2008;88(3):275-83.
2007: Biancheri Roberta; Falace Antonio; Tessa Alessandra; Pedemonte Marina; Scapolan Sara; Cassandrini Denise; Aiello Chiara; Rossi Andrea; Broda Paolo; Zara Federico; Santorelli Filippo Maria; Minetti Carlo; Bruno Claudio
POMT2 gene mutation in limb-girdle muscular dystrophy with inflammatory changes.
Biochemical and biophysical research communications 2007;363(4):1033-7.
2007: Assereto Stefania; van Diggelen Otto P; Diogo Luisa; Morava Eva; Cassandrini Denise; Carreira Isabel; de Boode Willem-Pieter; Dilling Jildau; Garcia Paula; Henriques Margarida; Rebelo Olinda; ter Laak Henk; Minetti Carlo; Bruno Claudio
Null mutations and lethal congenital form of glycogen storage disease type IV.
Biochemical and biophysical research communications 2007;361(2):445-50.
2007: Biancheri Roberta; Zara Federico; Bruno Claudio; Rossi Andrea; Bordo Laura; Gazzerro Elisabetta; Sotgia Federica; Pedemonte Marina; Scapolan Sara; Bado Massimo; Uziel Graziella; Bugiani Marianna; Lamba Laura Doria; Costa Valeria; Schenone Angelo; Rozemuller Annemieke J M; Tortori-Donati Paolo; Lisanti Michael P; van der Knaap Marjo S; Minetti Carlo
Phenotypic characterization of hypomyelination and congenital cataract.
Annals of neurology 2007;62(2):121-7.
2007: Bruno C; Cassandrini D; Assereto S; Akman H Orhan; Minetti C; Di Mauro S
Neuromuscular forms of glycogen branching enzyme deficiency.
Acta myologica : myopathies and cardiomyopathies : official journal of the Mediterranean Society of Myology / edited by the Gaetano Conte Academy for the study of striated muscle diseases 2007;26(1):75-8.
2007: Gazzerro Elisabetta; Minetti Carlo
Potential drug targets within bone morphogenetic protein signaling pathways.
Current opinion in pharmacology 2007;7(3):325-33.
2007: Striano Pasquale; Mancardi Maria Margherita; Biancheri Roberta; Madia Francesca; Gennaro Elena; Paravidino Roberta; Beccaria Francesca; Capovilla Giuseppe; Dalla Bernardina Bernardo; Darra Francesca; Elia Maurizio; Giordano Lucio; Gobbi Giuseppe; Granata Tiziana; Ragona Francesca; Guerrini Renzo; Marini Carla; Mei Davide; Longaretti Francesca; Romeo Antonino; Siri Laura; Specchio Nicola; Vigevano Federico; Striano Salvatore; Tortora Fabio; Rossi Andrea; Minetti Carlo; Dravet Charlotte; Gaggero Roberto; Zara Federico
Brain MRI findings in severe myoclonic epilepsy in infancy and genotype-phenotype correlations.
Epilepsia 2007;48(6):1092-6.
2007: Bonuccelli Gloria; Sotgia Federica; Capozza Franco; Gazzerro Elisabetta; Minetti Carlo; Lisanti Michael P
Localized treatment with a novel FDA-approved proteasome inhibitor blocks the degradation of dystrophin and dystrophin-associated proteins in mdx mice.
Cell cycle (Georgetown, Tex.) 2007;6(10):1242-8.
2007: Biancheri Roberta; Rossi Andrea; Alpigiani Giannina; Filocamo Mirella; Gandolfo Carlo; Lorini Renata; Minetti Carlo
Cerebellar atrophy without cerebellar cortex hyperintensity in infantile neuroaxonal dystrophy (INAD) due to PLA2G6 mutation.
European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society 2007;11(3):175-7.
2007: Striano Pasquale; Elefante Andrea; Coppola Antonietta; Tortora Fabio; Zara Federico; Minetti Carlo; Striano Salvatore
Dramatic response to levetiracetam in post-ischaemic Holmes' tremor.
Journal of neurology, neurosurgery, and psychiatry 2007;78(4):438-9.
2007: Pescatori Mario; Broccolini Aldobrando; Minetti Carlo; Bertini Enrico; Bruno Claudio; D'amico Adele; Bernardini Camilla; Mirabella Massimiliano; Silvestri Gabriella; Giglio Vincenzo; Modoni Anna; Pedemonte Marina; Tasca Giorgio; Galluzzi Giuliana; Mercuri Eugenio; Tonali Pietro A; Ricci Enzo
Gene expression profiling in the early phases of DMD: a constant molecular signature characterizes DMD muscle from early postnatal life throughout disease progression.
The FASEB journal : official publication of the Federation of American Societies for Experimental Biology 2007;21(4):1210-26.
2007: Schubert William; Sotgia Federica; Cohen Alex W; Capozza Franco; Bonuccelli Gloria; Bruno Claudio; Minetti Carlo; Bonilla Eduardo; Dimauro Salvatore; Lisanti Michael P
Caveolin-1(-/-)- and caveolin-2(-/-)-deficient mice both display numerous skeletal muscle abnormalities, with tubular aggregate formation.
The American journal of pathology 2007;170(1):316-33.
2007: Falace Antonio; Striano Pasquale; Manganelli Fiore; Coppola Antonietta; Striano Salvatore; Minetti Carlo; Zara Federico
Inherited neuromyotonia: a clinical and genetic study of a family.
Neuromuscular disorders : NMD 2007;17(1):23-7.
2006: Cassandrini Denise; Savasta Salvatore; Bozzola Mauro; Tessa Alessandra; Pedemonte Marina; Assereto Stefania; Stringara Silvia; Minetti Carlo; Santorelli Filippo M; Bruno Claudio
Mitochondrial DNA deletion in a child with mitochondrial encephalomyopathy, growth hormone deficiency, and hypoparathyroidism.
Journal of child neurology 2006;21(11):983-5.
2006: Striano Pasquale; Zara Federico; Minetti Carlo; Striano Salvatore
Epileptic seizures can follow high doses of oral vardenafil.
BMJ (Clinical research ed.) 2006;333(7572):785.
2006: Madia F; Striano P; Gennaro E; Malacarne M; Paravidino R; Biancheri R; Budetta M; Cilio M R; Gaggero R; Pierluigi M; Minetti C; Zara F
Cryptic chromosome deletions involving SCN1A in severe myoclonic epilepsy of infancy.
Neurology 2006;67(7):1230-5.
2006: Biancheri Roberta; Bertini Enrico; Falace Antonio; Pedemonte Marina; Rossi Andrea; D'Amico Adele; Scapolan Sara; Bergamino Laura; Petrini Stefania; Cassandrini Denise; Broda Paolo; Manfredi Mario; Zara Federico; Santorelli Filippo M; Minetti Carlo; Bruno Claudio
POMGnT1 mutations in congenital muscular dystrophy: genotype-phenotype correlation and expanded clinical spectrum.
Archives of neurology 2006;63(10):1491-5.
2006: Zara Federico; Biancheri Roberta; Bruno Claudio; Bordo Laura; Assereto Stefania; Gazzerro Elisabetta; Sotgia Federica; Wang Xiao Bo; Gianotti Stefania; Stringara Silvia; Pedemonte Marina; Uziel Graziella; Rossi Andrea; Schenone Angelo; Tortori-Donati Paolo; van der Knaap Marjo S; Lisanti Michael P; Minetti Carlo
Deficiency of hyccin, a newly identified membrane protein, causes hypomyelination and congenital cataract.
Nature genetics 2006;38(10):1111-3.
2006: Biancheri Roberta; Zara Federico; Striano Pasquale; Pedemonte Marina; Cassandrini Denise; Stringara Silvia; Manganelli Fiore; Santoro Lucio; Schenone Angelo; Bellone Emilia; Minetti Carlo
GDAP1 mutation in autosomal recessive Charcot-Marie-Tooth with pyramidal features.
Journal of neurology 2006;253(9):1234-5.
2006: Bruno Claudio; Cassandrini Denise; Martinuzzi Andrea; Toscano Antonio; Moggio Maurizio; Morandi Lucia; Servidei Serena; Mongini Tiziana; Angelini Corrado; Musumeci Olimpia; Comi Giacomo P; Lamperti Costanza; Filosto Massimiliano; Zara Federico; Minetti Carlo
McArdle disease: the mutation spectrum of PYGM in a large Italian cohort.
Human mutation 2006;27(7):718.
2006: Striano Pasquale; Lispi Maria Luisa; Gennaro Elena; Madia Francesca; Traverso Monica; Bordo Laura; Aridon Paolo; Boneschi Filippo Martinelli; Barone Baldassare; dalla Bernardina Bernardo; Bianchi Amedeo; Capovilla Giuseppe; De Marco Pasquale; Dulac Olivier; Gaggero Roberto; Gambardella Antonio; Nabbout Rima; Prud'homme Jean-François; Day Ruth; Vanadia Francesca; Vecchi Marilena; Veggiotti Pierangelo; Vigevano Federico; Viri Maurizio; Minetti Carlo; Zara Federico
Linkage analysis and disease models in benign familial infantile seizures: a study of 16 families.
Epilepsia 2006;47(6):1029-34.
2006: Cassandrini Denise; Calevo Maria Grazia; Tessa Alessandra; Manfredi Giovanni; Fattori Fabiana; Meschini Maria Chiara; Carrozzo Rosalba; Tonoli Emmanuel; Pedemonte Marina; Minetti Carlo; Zara Federico; Santorelli Filippo M; Bruno Claudio
A new method for analysis of mitochondrial DNA point mutations and assess levels of heteroplasmy.
Biochemical and biophysical research communications 2006;342(2):387-93.
2006: Gennaro Elena; Santorelli Filippo M; Bertini Enrico; Buti Daniela; Gaggero Roberto; Gobbi Giuseppe; Lini Marcella; Granata Tiziana; Freri Elena; Parmeggiani Antonia; Striano Pasquale; Veggiotti Pierangelo; Cardinali Simona; Bricarelli Franca Dagna; Minetti Carlo; Zara Federico
Somatic and germline mosaicisms in severe myoclonic epilepsy of infancy.
Biochemical and biophysical research communications 2006;341(2):489-93.
2006: Assereto Stefania; Stringara Silvia; Sotgia Federica; Bonuccelli Gloria; Broccolini Aldobrando; Pedemonte Marina; Traverso Monica; Biancheri Roberta; Zara Federico; Bruno Claudio; Lisanti Michael P; Minetti Carlo
Pharmacological rescue of the dystrophin-glycoprotein complex in Duchenne and Becker skeletal muscle explants by proteasome inhibitor treatment.
American journal of physiology. Cell physiology 2006;290(2):C577-82.
2006: Striano Pasquale; Bordo Laura; Lispi Maria Luisa; Specchio Nicola; Minetti Carlo; Vigevano Federico; Zara Federico
A novel SCN2A mutation in family with benign familial infantile seizures.
Epilepsia 2006;47(1):218-20.
2006: Sotgia Federica; Williams Terence M; Schubert William; Medina Freddy; Minetti Carlo; Pestell Richard G; Lisanti Michael P
Caveolin-1 deficiency (-/-) conveys premalignant alterations in mammary epithelia, with abnormal lumen formation, growth factor independence, and cell invasiveness.
The American journal of pathology 2006;168(1):292-309.
2006: Traverso Monica; Malnati Mauro; Minetti Carlo; Regis Stefano; Tedeschi Silvana; Pedemonte Marina; Bruno Claudio; Biassoni Roberto; Zara Federico
Multiplex real-time PCR for detection of deletions and duplications in dystrophin gene.
Biochemical and biophysical research communications 2006;339(1):145-50.
2005: Striano Pasquale; Madia Francesca; Minetti Carlo; Striano Salvatore; Zara Federico
Electroclinical and genetic findings in a family with cortical tremor, myoclonus, and epilepsy.
Epilepsia 2005;46(12):1993-5.
2005: Li Jiangwei; Hassan Ghada S; Williams Terence M; Minetti Carlo; Pestell Richard G; Tanowitz Herbert B; Frank Philippe G; Sotgia Federica; Lisanti Michael P
Loss of caveolin-1 causes the hyper-proliferation of intestinal crypt stem cells, with increased sensitivity to whole body gamma-radiation.
Cell cycle (Georgetown, Tex.) 2005;4(12):1817-25.
2005: Sotgia Federica; Williams Terence M; Cohen Alex W; Minetti Carlo; Pestell Richard G; Lisanti Michael P
Caveolin-1-deficient mice have an increased mammary stem cell population with upregulation of Wnt/beta-catenin signaling.
Cell cycle (Georgetown, Tex.) 2005;4(12):1808-16.
2005: Biancheri R; Rossi A; Verbeek H A; Schot R; Corsolini F; Assereto S; Mancini G M S; Verheijen F W; Minetti C; Filocamo M
Homozygosity for the p.K136E mutation in the SLC17A5 gene as cause of an Italian severe Salla disease.
Neurogenetics 2005;6(4):195-9.
2005: Minetti Carlo; Gattorno Marco; Repetto Silvia; Gregorio Andrea; Pedemonte Marina; Assereto Stefania; Zara Federico; Bruno Claudio; Martini Alberto
Chemokine receptor CCR7 is expressed in muscle fibers in juvenile dermatomyositis.
Biochemical and biophysical research communications 2005;333(2):540-3.
2004: Biancheri R; Rossi A; Tortori-Donati P; Stringara S; Bonifacino S; Minetti C
Middle interhemispheric variant of holoprosencephaly: a very mild clinical case.
Neurology 2004;63(11):2194-6.
2004: Bruno C; van Diggelen O P; Cassandrini D; Gimpelev M; Giuffrè B; Donati M A; Introvini P; Alegria A; Assereto S; Morandi L; Mora M; Tonoli E; Mascelli S; Traverso M; Pasquini E; Bado M; Vilarinho L; van Noort G; Mosca F; DiMauro S; Zara F; Minetti C
Clinical and genetic heterogeneity of branching enzyme deficiency (glycogenosis type IV).
Neurology 2004;63(6):1053-8.
2004: Broccolini Aldobrando; Ricci Enzo; Cassandrini Denise; Gliubizzi Carla; Bruno Claudio; Tonoli Emmanuel; Silvestri Gabriella; Pescatori Mario; Rodolico Carmelo; Sinicropi Stefano; Servidei Serenella; Zara Federico; Minetti Carlo; Tonali Pietro A; Mirabella Massimiliano
Novel GNE mutations in Italian families with autosomal recessive hereditary inclusion-body myopathy.
Human mutation 2004;23(6):632.
2004: Woodman S E; Sotgia F; Galbiati F; Minetti C; Lisanti M P
Caveolinopathies: mutations in caveolin-3 cause four distinct autosomal dominant muscle diseases.
Neurology 2004;62(4):538-43.
2004: Bruno C; Bertini E; Federico A; Tonoli E; Lispi M L; Cassandrini D; Pedemonte M; Santorelli F M; Filocamo M; Dotti M T; Schenone A; Malandrini A; Minetti C
Clinical and molecular findings in patients with giant axonal neuropathy (GAN).
Neurology 2004;62(1):13-6.
2004: Bruno Claudio; Minetti Carlo
Congenital myopathies.
Current neurology and neuroscience reports 2004;4(1):68-73.
2003: Sotgia Federica; Bonuccelli Gloria; Minetti Carlo; Woodman Scott E; Capozza Franco; Kemp Robert G; Scherer Philipp E; Lisanti Michael P
Phosphofructokinase muscle-specific isoform requires caveolin-3 expression for plasma membrane recruitment and caveolar targeting: implications for the pathogenesis of caveolin-related muscle diseases.
The American journal of pathology 2003;163(6):2619-34.
2003: Sotgia Federica; Woodman Scott E; Bonuccelli Gloria; Capozza Franco; Minetti Carlo; Scherer Philipp E; Lisanti Michael P
Phenotypic behavior of caveolin-3 R26Q, a mutant associated with hyperCKemia, distal myopathy, and rippling muscle disease.
American journal of physiology. Cell physiology 2003;285(5):C1150-60.
2003: Bonuccelli Gloria; Sotgia Federica; Schubert William; Park David S; Frank Philippe G; Woodman Scott E; Insabato Luigi; Cammer Michael; Minetti Carlo; Lisanti Michael P
Proteasome inhibitor (MG-132) treatment of mdx mice rescues the expression and membrane localization of dystrophin and dystrophin-associated proteins.
The American journal of pathology 2003;163(4):1663-75.
2003: Bruno Claudio; Santorelli Filippo M; Assereto Stefania; Tonoli Emmanuel; Tessa Alessandra; Traverso Monica; Scapolan Sara; Bado Massimo; Tedeschi Silvana; Minetti Carlo
Progressive exercise intolerance associated with a new muscle-restricted nonsense mutation (G142X) in the mitochondrial cytochrome b gene.
Muscle & nerve 2003;28(4):508-11.
2003: Bruno Claudio; Sacco Oliviero; Santorelli Filippo M; Assereto Stefania; Tonoli Emmanuel; Bado Massimo; Rossi Giovanni A; Minetti Carlo
Mitochondrial myopathy and respiratory failure associated with a new mutation in the mitochondrial transfer ribonucleic acid glutamic acid gene.
Journal of child neurology 2003;18(4):300-3.
2002: Merlini L; Carbone I; Capanni C; Sabatelli P; Tortorelli S; Sotgia F; Lisanti M P; Bruno C; Minetti C
Familial isolated hyperCKaemia associated with a new mutation in the caveolin-3 (CAV-3) gene.
Journal of neurology, neurosurgery, and psychiatry 2002;73(1):65-7.
2002: Frigeri Antonio; Nicchia Grazia Paola; Repetto Silvia; Bado Massimo; Minetti Carlo; Svelto Maria
Altered aquaporin-4 expression in human muscular dystrophies: a common feature?
The FASEB journal : official publication of the Federation of American Societies for Experimental Biology 2002;16(9):1120-2.
2002: Bruno C; Gandullia P; Santorelli F M; Biedi C; Carbone I; Bado M; Gatti R; Minetti C
Tubulopathy, endocrinopathies and encephalomyopathy in a child with a novel large-scale mitochondrial DNA deletion.
Clinical genetics 2002;61(6):465-7.
2002: Bruno Claudio; Lanzillo Roberta; Biedi Claudia; Iadicicco Lucia; Minetti Carlo; Santoro Lucio
Two new mutations in the myophosphorylase gene in Italian patients with McArdle's disease.
Neuromuscular disorders : NMD 2002;12(5):498-500.
2002: Sotgia Federica; Razani Babak; Bonuccelli Gloria; Schubert William; Battista Michela; Lee Hyangkyu; Capozza Franco; Schubert Ann Lane; Minetti Carlo; Buckley J Thomas; Lisanti Michael P
Intracellular retention of glycosylphosphatidyl inositol-linked proteins in caveolin-deficient cells.
Molecular and cellular biology 2002;22(11):3905-26.
2002: Bruno Claudio; Biancheri Roberta; Garavaglia Barbara; Biedi Claudia; Rossi Andrea; Lamba Laura Doria; Bado Massimo; Greco Marilena; Zeviani Massimo; Minetti Carlo
A novel mutation in the SURF1 gene in a child with Leigh disease, peripheral neuropathy, and cytochrome-c oxidase deficiency.
Journal of child neurology 2002;17(3):233-6.
2002: Minetti Carlo; Bado Massimo; Broda Paolo; Sotgia Federica; Bruno Claudio; Galbiati Ferruccio; Volonte Daniela; Lucania Giuseppe; Pavan Antonio; Bonilla Eduardo; Lisanti Michael P; Cordone Giuseppe
Impairment of caveolae formation and T-system disorganization in human muscular dystrophy with caveolin-3 deficiency.
The American journal of pathology 2002;160(1):265-70.
2001: Galbiati F; Engelman J A; Volonte D; Zhang X L; Minetti C; Li M; Hou H; Kneitz B; Edelmann W; Lisanti M P
Caveolin-3 null mice show a loss of caveolae, changes in the microdomain distribution of the dystrophin-glycoprotein complex, and t-tubule abnormalities.
The Journal of biological chemistry 2001;276(24):21425-33.
2000: Sotgia F; Lee J K; Das K; Bedford M; Petrucci T C; Macioce P; Sargiacomo M; Bricarelli F D; Minetti C; Sudol M; Lisanti M P
Caveolin-3 directly interacts with the C-terminal tail of beta -dystroglycan. Identification of a central WW-like domain within caveolin family members.
The Journal of biological chemistry 2000;275(48):38048-58.
2000: Galbiati F; Volonte D; Minetti C; Bregman D B; Lisanti M P
Limb-girdle muscular dystrophy (LGMD-1C) mutants of caveolin-3 undergo ubiquitination and proteasomal degradation. Treatment with proteasomal inhibitors blocks the dominant negative effect of LGMD-1C mutanta and rescues wild-type caveolin-3.
The Journal of biological chemistry 2000;275(48):37702-11.
2000: Bruno C; Bado M; Minetti C; Cordone G; DiMauro S
Novel mutation in the CPT II gene in a child with periodic febrile myalgia and myoglobinuria.
Journal of child neurology 2000;15(6):390-3.
2000: Carbone I; Bruno C; Sotgia F; Bado M; Broda P; Masetti E; Panella A; Zara F; Bricarelli F D; Cordone G; Lisanti M P; Minetti C
Mutation in the CAV3 gene causes partial caveolin-3 deficiency and hyperCKemia.
Neurology 2000;54(6):1373-6.
1999: Bruno C; DiRocco M; Lamba L D; Bado M; Marino C; Tsujino S; Shanske S; Stella G; Minetti C; van Diggelen O P; DiMauro S
A novel missense mutation in the glycogen branching enzyme gene in a child with myopathy and hepatopathy.
Neuromuscular disorders : NMD 1999;9(6-7):403-7.
1999: Galbiati F; Volonte D; Minetti C; Chu J B; Lisanti M P
Phenotypic behavior of caveolin-3 mutations that cause autosomal dominant limb girdle muscular dystrophy (LGMD-1C). Retention of LGMD-1C caveolin-3 mutants within the golgi complex.
The Journal of biological chemistry 1999;274(36):25632-41.
1999: Repetto S; Bado M; Broda P; Lucania G; Masetti E; Sotgia F; Carbone I; Pavan A; Bonilla E; Cordone G; Lisanti M P; Minetti C
Increased number of caveolae and caveolin-3 overexpression in Duchenne muscular dystrophy.
Biochemical and biophysical research communications 1999;261(3):547-50.
1999: Sotgia F; Minetti C; Lisanti M P
Localization of the human caveolin-3 gene to the D3S18/D3S4163/D3S4539 locus (3p25), in close proximity to the human oxytocin receptor gene. Identification of the caveolin-3 gene as a candidate for deletion in 3p-syndrome.
FEBS letters 1999;452(3):177-80.
1999: Pedemonte M; Sandri C; Schiaffino S; Minetti C
Early decrease of IIx myosin heavy chain transcripts in Duchenne muscular dystrophy.
Biochemical and biophysical research communications 1999;255(2):466-9.
1998: Engelman J A; Zhang X; Galbiati F; Volonte D; Sotgia F; Pestell R G; Minetti C; Scherer P E; Okamoto T; Lisanti M P
Molecular genetics of the caveolin gene family: implications for human cancers, diabetes, Alzheimer disease, and muscular dystrophy.
American journal of human genetics 1998;63(6):1578-87.
1998: Bruno C; Bado M; Minetti C; Cordone G
Forearm semi-ischemic exercise test in pediatric patients.
Journal of child neurology 1998;13(6):288-90.
1998: Bruno C; Minetti C; Tang Y; Magalhães P J; Santorelli F M; Shanske S; Bado M; Cordone G; Gatti R; DiMauro S
Primary adrenal insufficiency in a child with a mitochondrial DNA deletion.
Journal of inherited metabolic disease 1998;21(2):155-61.
1998: Minetti C; Sotgia F; Bruno C; Scartezzini P; Broda P; Bado M; Masetti E; Mazzocco M; Egeo A; Donati M A; Volonte D; Galbiati F; Cordone G; Bricarelli F D; Lisanti M P; Zara F
Mutations in the caveolin-3 gene cause autosomal dominant limb-girdle muscular dystrophy.
Nature genetics 1998;18(4):365-8.
1998: Minetti C; Garavaglia B; Bado M; Invernizzi F; Bruno C; Rimoldi M; Pons R; Taroni F; Cordone G
Very-long-chain acyl-coenzyme A dehydrogenase deficiency in a child with recurrent myoglobinuria.
Neuromuscular disorders : NMD 1998;8(1):3-6.
1998: Minetti C; Cordone G; Beltrame F; Bado M; Bonilla E
Disorganization of dystrophin costameric lattice in Becker muscular dystrophy.
Muscle & nerve 1998;21(2):211-6.
1998: Bruno C; Minetti C; Shanske S; Morreale G; Bado M; Cordone G; DiMauro S
Combined defects of muscle phosphofructokinase and AMP deaminase in a child with myoglobinuria.
Neurology 1998;50(1):296-8.
1996: Cordone G; Bado M; Morreale G; Pedemonte M; Minetti C
Severe dystrophinopathy in a patient with congenital hypotonia.
Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery 1996;12(8):466-9.
1996: Minetti C; Bado M; Morreale G; Pedemonte M; Cordone G
Disruption of muscle basal lamina in congenital muscular dystrophy with merosin deficiency.
Neurology 1996;46(5):1354-8.
1996: Minetti C; Hirano M; Morreale G; Pedemonte M; Cordone G; Hays A P; Bonilla E
Ubiquitin expression in acute steroid myopathy with loss of myosin thick filaments.
Muscle & nerve 1996;19(1):94-6.
1995: Bado M; Bruno C; Morreale G; Parisi F; Minetti C; Cordone G
[Early myoclonic encephalopathy and spinal muscular atrophy type I]
Minerva pediatrica 1995;47(6):233-8.
1994: Bruno C; Iester A; Bado M; Morreale G; Broda P; Minetti C; Cordone A; Cordone G
[Muscle phosphorylase deficiency in childhood. A case report]
Minerva pediatrica 1994;46(10):459-62.
1994: Minetti C; Tanji K; Rippa P G; Morreale G; Cordone G; Bonilla E
Abnormalities in the expression of beta-spectrin in Duchenne muscular dystrophy.
Neurology 1994;44(6):1149-53.
1994: Hirano M; Silvestri G; Blake D M; Lombes A; Minetti C; Bonilla E; Hays A P; Lovelace R E; Butler I; Bertorini T E
Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE): clinical, biochemical, and genetic features of an autosomal recessive mitochondrial disorder.
Neurology 1994;44(4):721-7.
1993: Minetti C; Tanji K; Chang H W; Medori R; Cordone G; DiMauro S; Bonilla E
Dystrophinopathy in two young boys with exercise-induced cramps and myoglobinuria.
European journal of pediatrics 1993;152(10):848-51.
1992: Minetti C; Tanji K; Bonilla E
Immunologic study of vinculin in Duchenne muscular dystrophy.
Neurology 1992;42(9):1751-4.
1992: Minetti C; Beltrame F; Marcenaro G; Bonilla E
Dystrophin at the plasma membrane of human muscle fibers shows a costameric localization.
Neuromuscular disorders : NMD 1992;2(2):99-109.
1991: Minetti C; Ricci E; Bonilla E
Progressive depletion of fast alpha-actinin-positive muscle fibers in Duchenne muscular dystrophy.
Neurology 1991;41(12):1977-81.
1991: Cordone G; Buoncompagni A; Ciccone O; Minetti C; Fasce L; Scribanis R; De Langlade E
[Infantile dermatomyositis. Clinical aspects and prospective treatments]
Minerva pediatrica 1991;43(10):621-30.
1991: Minetti C; Chang H W; Medori R; Prelle A; Moggio M; Johnsen S D; Bonilla E
Dystrophin deficiency in young girls with sporadic myopathy and normal karyotype.
Neurology 1991;41(8):1288-92.
1991: Bado M; Minetti C; Mallamaci L; Bresolin N; Leveratto L; Iester A; Cordone G
[The defect in muscular glucose-6-phosphate dehydrogenase]
Minerva pediatrica 1991;43(3):91-2.
1991: Cordone G; Bado M; Minetti C
[Congenital myopathies]
Minerva pediatrica 1991;43(3):71-80.
1991: Bonilla E; Minetti C; Chang H W; Medori R; Cordone G; Di Mauro S
[Clinical,manifestations of the myopathies due to deletions/mutations of the dystrophin gene]
Minerva pediatrica 1991;43(3):67-70.
1991: McDonald T D; Medori R; Younger D S; Chang H W; Minetti C; Uncini A; Bonilla E; Hays A P; Lovelace R E
Becker muscular dystrophy or spinal muscular atrophy?--Dystrophin studies resolve conflicting results of electromyography and muscle biopsy.
Neuromuscular disorders : NMD 1991;1(3):195-200.
1990: DiMauro S; Bonilla E; Lombes A; Shanske S; Minetti C; Moraes C T
Mitochondrial encephalomyopathies.
Neurologic clinics 1990;8(3):483-506.
1986: Minetti C; Cordone G; Bado M
[Muscle needle biopsy: possibilities and limitations]
Minerva pediatrica 1986;38(15-16):661-2.
1984: Cordone G; Venzano V; Rossi G; Cavallero G; Minetti C
[Critical evaluation of changes of serum CK after exertion in the identification of carriers of Duchenne's muscular dystrophy]
La Pediatria medica e chirurgica : Medical and surgical pediatrics 1984;6(6):819-22.
1984: Iester A; Filingeri L; Marchesi A; Bonelli R; Minetti C; Cordone G
[Intellectual deficit in progressive muscular dystrophy]
Minerva pediatrica 1984;36(9):441-5.
1984: Minetti C; Meola G; Scarpini E; Cordone G; Bado M; Scarlato G
[The myopathy of congenital fiber type disproportion]
Minerva pediatrica 1984;36(4):181-7.
1983: De Langlade E; Corazza G; Minetti C; Bado M; Venzano V; Chiossi F M
[Ophthalmoplegia plus and ragged red fibers. Description of a case manifested in childhood]
Minerva pediatrica 1983;35(22):1117-23.
1980: Venzano V; Minetti C; Guglielmetto E
[Differential diagnostic problems in hernia in infancy. Apropos of a case]
Minerva pediatrica 1980;32(20):1201-4.
1980: Fasce L; Jamone R; Ragazzini G; Minetti C
[Intracranial hypertension and strabismus in a 5 year old child after nalidixic acid]
Minerva pediatrica 1980;32(11):751-3.
1980: Venzano V; Conforti G; Marchesi A; Minetti C; Iester A
[The association of juvenile diabetes mellitus, primary optic atrophy and deafness (the Wolfram and Ikkos syndrome). Apropos of a personal case]
Minerva pediatrica 1980;32(10):685-92.
1980: Minetti C; Zoppi G; Conforti G; Venzano V
[Breast feeding today. A statistical study in the city of Genoa]
Minerva pediatrica 1980;32(8):543-6.

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