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Carlo Minetti

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Antonietta Coppola; Luigi Del Gaudio; Eleonora Di Gregorio; Carlo Minetti; Lia Santulli; Salvatore Striano; Monica Traverso; Piernanda Vigliano; Federico Zara; Irene Bagnasco; Alfredo Brusco; Carmela Caccavale; Pasquale Striano
Different electroclinical picture of generalized epilepsy in two families with 15q13.3 microdeletion.
Chiara Fiorillo; Elisabetta Gazzerro; Gianmichele Magnano; Carlo Minetti; Andrea Natali; Filippo M Santorelli; Sara Scapolan; Francesca Scuderi; Federica Trucco; Maura Valle; Marcello Arca; Guja Astrea; Giacomo Brisca; Denise Cassandrini; Claudio Bruno
Subclinical myopathy in a child with neutral lipid storage disease and mutations in the PNPLA2 gene.
Monica Traverso; Ozge Ozalp Yuregir; Federico Zara; Huseyin Aslan; Sımona Baldassari; Floriana Fruscione; Elisabetta Gazzerro; Aviva Mimouni-Bloch; Carlo Minetti; Andrea Rossi; Roberta Biancheri
Hypomyelination and congenital cataract: identification of novel mutations in two unrelated families.

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All Publications

2013: Antonietta Coppola; Luigi Del Gaudio; Eleonora Di Gregorio; Carlo Minetti; Lia Santulli; Salvatore Striano; Monica Traverso; Piernanda Vigliano; Federico Zara; Irene Bagnasco; Alfredo Brusco; Carmela Caccavale; Pasquale Striano
Different electroclinical picture of generalized epilepsy in two families with 15q13.3 microdeletion.
Epilepsia 2013;54(5):e69-73.
2013: Chiara Fiorillo; Elisabetta Gazzerro; Gianmichele Magnano; Carlo Minetti; Andrea Natali; Filippo M Santorelli; Sara Scapolan; Francesca Scuderi; Federica Trucco; Maura Valle; Marcello Arca; Guja Astrea; Giacomo Brisca; Denise Cassandrini; Claudio Bruno
Subclinical myopathy in a child with neutral lipid storage disease and mutations in the PNPLA2 gene.
Biochemical and biophysical research communications 2013;430(1):241-4.
2013: Monica Traverso; Ozge Ozalp Yuregir; Federico Zara; Huseyin Aslan; Sımona Baldassari; Floriana Fruscione; Elisabetta Gazzerro; Aviva Mimouni-Bloch; Carlo Minetti; Andrea Rossi; Roberta Biancheri
Hypomyelination and congenital cataract: identification of novel mutations in two unrelated families.
European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society 2013;17(1):108-11.
2012: M Fanin; C Fiorillo; F Lilliu; Carlo Minetti; Sara Scapolan; G Siciliano; A Anichini; C Bruno; Denise Cassandrini; M Cassanello; A D'Amico; Maria Alice Donati; Corrado Angelini
Allelic and phenotypic heterogeneity in 49 Italian patients with the muscle form of CPT-II deficiency.
Clinical genetics 2012;82(3):232-9.
2012: Elisabetta Gazzerro; Caterina Giacomini; Veronica La Padula; Michael P Lisanti; Simona Baldassari; Roberta Biancheri; Anna Corradi; Ian D Duncan; Floriana Fruscione; Veronica Musante; Lucilla Nobbio; Valeria Prada; Sonia Scarfì; Federica Sotgia; Hauke B Werner; Federico Zara; Carlo Minetti
Hyccin, the molecule mutated in the leukodystrophy hypomyelination and congenital cataract (HCC), is a neuronal protein.
PloS one 2012;7(3):e32180.
2011: Claudio Bruno; Denise Cassandrini; Fabiana Fattori; Chiara Fiorillo; Carlo Minetti; Marina Pedemonte; Giorgia Brigati; Giacomo Brisca; Filippo M Santorelli
Mitochondrial myopathy in a child with a muscle-restricted mutation in the mitochondrial transfer RNAAsn gene.
Biochemical and biophysical research communications 2011;412(4):518-21.
2011: Roberta Biancheri; Marianna Bugiani; Maja Di Rocco; Ozdem Erturk; Elisabetta Gazzerro; Mikael Mathot; Carlo Minetti; Marie-Cécile Nassogne; Andrea Rossi; Erik A Sistermans; Behyan Tuysuz; Marjo S van der Knaap; Resie van Spaendonk; Cengiz Yalcinkaya; Federico Zara; Nicole I Wolf
Hypomyelination and congenital cataract: broadening the clinical phenotype.
Archives of neurology 2011;68(9):1191-4.
2011: Lucio Giordano; Carlo Minetti; Marianna Pezzella; Mariangela Pinci; Salvatore Striano; Paolo Tinuper; Monica Traverso; Aglaia Vignoli; Federico Zara; P Accorsi; Maria Giuseppina Baglietto; Silvia Battaglia; Francesca Beccaria; Francesca Bisulli; Eleonora Briatore; Stefano Calzolari; Maria Paola Canevini; Giuseppe Capovilla; Caterina Cerminara; Antonietta Coppola; Giovanni Crichiutti; Ennio Del Giudice; Jessica Galli; Silvia Gambara; Pasquale Striano
A clinical and genetic study of 33 new cases with early-onset absence epilepsy.
Epilepsy research 2011;95(3):221-6.
2011: Antonietta Coppola; Luigi Del Gaudio; Carlo Minetti; Lia Santulli; Salvatore Striano; Federico Zara; Pasquale Striano
Natural history and long-term evolution in families with autosomal dominant cortical tremor, myoclonus, and epilepsy.
Epilepsia 2011;52(7):1245-50.
2011: P Striano; F Zara; A Bianchi; Carlo Minetti
[Epilepsy genetics and genetic epilepsies].
Minerva pediatrica 2011;63(3):217-25.
2011: Ilaria Baiardini; Carlo Minetti; Simona Bonifacino; Anna Porcu; Catherine Klersy; Paolo Petralia; Sara Balestracci; Filippo Tarchino; Stefania Parodi; Giorgio Walter Canonica; Fulvio Braido
Quality of life in Duchenne muscular dystrophy: the subjective impact on children and parents.
Journal of child neurology 2011;26(6):707-13.
2011: Pasquale Striano; Roberta Paravidino; Federico Sicca; P Chiurazzi; stefania gimelli; Antonino Coppola; A Robbiano; Monica Traverso; M Pintaudi; S Giovannini; F Operto; P Vigliano; Tiziana Granata; Giangennaro Coppola; Antonino Romeo; Nicola Specchio; Lucio Giordano; Lucy Osborne; G Gimelli; Carlo Minetti; Federico Zara
West syndrome associated with 14q12 duplications harboring FOXG1.
Neurology 2011;76(18):1600-2.
2010: Nune S Yeghiazaryan; Pasquale Striano; Patrizia Accorsi; Lorenzo Pinelli; Francesca Faravelli; Federico Zara; Carlo Minetti; Lucio Giordano
Familial nonkinesigenic paroxysmal dyskinesia and intracranial calcifications: a new syndrome?
Movement disorders : official journal of the Movement Disorder Society 2010;25(14):2468-70.
2010: Antonio Falace; Fabia Filipello; Veronica La Padula; Nicola Vanni; Francesca Madia; Davide de Pietri Tonelli; Fabrizio A de Falco; Pasquale Striano; Franca Dagna Bricarelli; Carlo Minetti; Fabio Benfenati; Anna Fassio; Federico Zara
TBC1D24, an ARF6-interacting protein, is mutated in familial infantile myoclonic epilepsy.
American journal of human genetics 2010;87(3):365-70.
2010: Pasquale Striano; Carlo Minetti
Epilepsy: old drugs do the trick in childhood absence epilepsy.
Nature reviews. Neurology 2010;6(8):420-1.
2010: Nune S Yeghiazaryan; Giovanni Morana; Andrea Rossi; Pierangelo Veggiotti; Giulia Savino; Lucio Giordano; Carlo Minetti; Pasquale Striano
Temporal lobe epilepsy and hippocampal malrotation: is there a causal association?
Epilepsy & behavior : E&B 2010;18(4):502-4.
2010: Marina Grandis; Rossella Gulli; Denise Cassandrini; Elisabetta Gazzerro; Luana Benedetti; Eleonora Narciso; Lucilla Nobbio; Claudio Bruno; Carlo Minetti; Emilia Bellone; L Reni; Giovanni Luigi Mancardi; Paola Mandich; Angelo Schenone
The spectrum of GNE mutations: allelic heterogeneity for a common phenotype.
Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology 2010;31(3):377-80.
2010: Elisabetta Gazzerro; Stefania Assereto; Andrea Bonetto; Federica Sotgia; Sonia Scarfì; Angela Pistorio; Gloria Bonuccelli; Michele Cilli; Claudio Bruno; Federico Zara; Michael P Lisanti; Carlo Minetti
Therapeutic potential of proteasome inhibition in Duchenne and Becker muscular dystrophies.
The American journal of pathology 2010;176(4):1863-77.
2010: Marianna Pezzella; Nune S Yeghiazaryan; Pierangelo Veggiotti; Alberto Bettinelli; Giovanna Giudizioso; Federico Zara; Pasquale Striano; Carlo Minetti
Galloway-Mowat syndrome: an early-onset progressive encephalopathy with intractable epilepsy associated to renal impairment. Two novel cases and review of literature.
Seizure : the journal of the British Epilepsy Association 2010;19(2):132-5.
2009: Isabelle Mercier; Jean-François Jasmin; Stephanos Pavlides; Carlo Minetti; Neal Flomenberg; Richard G Pestell; Philippe G Frank; Federica Sotgia; Michael P Lisanti
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: Pasquale Striano; Fabrizio A de Falco; Carlo Minetti; Federico Zara
Familial benign nonprogressive myoclonic epilepsies.
Epilepsia 2009;50 Suppl 5():37-40.
2009: Gloria Bonuccelli; Mathew C Casimiro; Federica Sotgia; Chenguang Wang; Manran Liu; Sanjay Katiyar; Jie Zhou; Elliott Dew; Franco Capozza; Kristin M Daumer; Carlo Minetti; Janet N Milliman; Fabien Alpy; Marie-Christine Rio; Catherine Tomasetto; Isabelle Mercier; Neal Flomenberg; Philippe G Frank; Richard G Pestell; Michael P Lisanti
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: Federica Sotgia; francesco del galdo; Mathew C Casimiro; Gloria Bonuccelli; Isabelle Mercier; Diana Whitaker-Menezes; Kristin M Daumer; Jie Zhou; Chenguang Wang; Sanjay Katiyar; Huan Xu; Emily Bosco; Andrew A Quong; Bruce Aronow; Agnieszka Witkiewicz; Carlo Minetti; Philippe G Frank; Sergio A Jimenez; Erik S Knudsen; Richard G Pestell; Michael P Lisanti
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: Federica Sotgia; Mathew C Casimiro; Gloria Bonuccelli; Manran Liu; Diana Whitaker-Menezes; Ozlem Er; Kristin M Daumer; Isabelle Mercier; Agnieszka K Witkiewicz; Carlo Minetti; Franco Capozza; Michael Gormley; Andrew A Quong; Hallgeir Rui; Philippe G Frank; Janet N Milliman; Erik S Knudsen; Jie Zhou; Chenguang Wang; Richard G Pestell; Michael P Lisanti
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: Pasquale Striano; Fabio Tortora; Federico Zara; Antonietta Coppola; Andrea Elefante; Carlo Minetti
Dramatic response to levetiracetam in post-ischaemic Holmes' tremor.
BMJ case reports 2009;2009():.
2009: Pasquale Striano; Federico Zara; Carlo Minetti; Salvatore Striano
Chitosan may decrease serum valproate and increase the risk of seizure reappearance.
BMJ (Clinical research ed.) 2009;339():b3751.
2009: Roberta Biancheri; Marianna Ciccolella; Andrea Rossi; Alessandra Tessa; Denise Cassandrini; Carlo Minetti; Filippo M Santorelli
White matter lesions in spastic paraplegia with mutations in SPG5/CYP7B1.
Neuromuscular disorders : NMD 2009;19(1):62-5.
2008: Stefania Assereto; Mauro Mastrototaro; Silvia Stringara; Elisabetta Gazzerro; Paolo Broda; Grazia Paola Nicchia; Maria Svelto; Claudio Bruno; Vincenzo Nigro; Michael P Lisanti; Antonio Frigeri; Carlo Minetti
Aquaporin-4 expression is severely reduced in human sarcoglycanopathies and dysferlinopathies.
Cell cycle (Georgetown, Tex.) 2008;7(14):2199-207.
2008: V Viassolo; S C Previtali; E Schiatti; G Magnani; Carlo Minetti; Federico Zara; M Grasso; Franca Dagna Bricarelli; Emilio Di Maria
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: Claudio Bruno; Enrico Bertini; Maja Di Rocco; Denise Cassandrini; Giuseppe Ruffa; Teresa De Toni; Marco Seri; Marco Spada; Giovanni Li Volti; Adele D'Amico; Federica Trucco; Marcello Arca; Carlo Casali; Corrado Angelini; Salvatore DiMauro; Carlo Minetti
Clinical and genetic characterization of Chanarin-Dorfman syndrome.
Biochemical and biophysical research communications 2008;369(4):1125-8.
2008: Francesca Madia; Pasquale Striano; Carlo Di Bonaventura; Arturo de Falco; Fabrizio A de Falco; Mario Manfredi; Giorgio Casari; Salvatore Striano; Carlo Minetti; Federico Zara
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: Pasquale Striano; Salvatore Striano; Carlo Minetti; Federico Zara
Refractory, life-threatening status epilepticus in a 3-year-old girl.
Lancet neurology 2008;7(3):278-84.
2008: Monica Traverso; Elisabetta Gazzerro; Stefania Assereto; Federica Sotgia; Roberta Biancheri; Silvia Stringara; Laura Giberti; Marina Pedemonte; Xiabo Wang; Sara Scapolan; Elisabetta Pasquini; Maria Alice Donati; Federico Zara; Michael P Lisanti; Claudio Bruno; Carlo Minetti
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: Roberta Biancheri; Antonio Falace; Alessandra Tessa; Marina Pedemonte; Sara Scapolan; Denise Cassandrini; Chiara Aiello; Andrea Rossi; Paolo Broda; Federico Zara; Filippo M Santorelli; Carlo Minetti; Claudio Bruno
POMT2 gene mutation in limb-girdle muscular dystrophy with inflammatory changes.
Biochemical and biophysical research communications 2007;363(4):1033-7.
2007: Stefania Assereto; Otto P van Diggelen; Luisa Diogo; Eva Morava; Denise Cassandrini; Isabel Carreira; Willem-Pieter de Boode; Jildau Dilling; Paula Garcia; Margarida Henriques; Olinda Rebelo; Henk ter Laak; Carlo Minetti; Claudio Bruno
Null mutations and lethal congenital form of glycogen storage disease type IV.
Biochemical and biophysical research communications 2007;361(2):445-50.
2007: Roberta Biancheri; Federico Zara; Claudio Bruno; Andrea Rossi; Laura Bordo; Elisabetta Gazzerro; Federica Sotgia; Marina Pedemonte; Sara Scapolan; Massimo Bado; Graziella Uziel; Marianna Bugiani; Laura Doria Lamba; Valeria Costa; Angelo Schenone; Annemieke J M Rozemuller; Paolo Tortori-Donati; Michael P Lisanti; Marjo S van der Knaap; Carlo Minetti
Phenotypic characterization of hypomyelination and congenital cataract.
Annals of neurology 2007;62(2):121-7.
2007: Claudio Bruno; Denise Cassandrini; Stefania Assereto; Hasan O Akman; Carlo Minetti; S Di Mauro
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: Elisabetta Gazzerro; Carlo Minetti
Potential drug targets within bone morphogenetic protein signaling pathways.
Current opinion in pharmacology 2007;7(3):325-33.
2007: Pasquale Striano; Maria Margherita Mancardi; Roberta Biancheri; Francesca Madia; Elena Gennaro; Roberta Paravidino; Francesca Beccaria; Giuseppe Capovilla; Bernardo Dalla Bernardina; Francesca Darra; Maurizio Elia; Lucio Giordano; Giuseppe Gobbi; Tiziana Granata; Francesca Ragona; Renzo Guerrini; Carla Marini; Davide Mei; Francesca Longaretti; Antonino Romeo; Laura Siri; Nicola Specchio; Federico Vigevano; Salvatore Striano; Fabio Tortora; Andrea Rossi; Carlo Minetti; Charlotte Dravet; Roberto Gaggero; Federico Zara
Brain MRI findings in severe myoclonic epilepsy in infancy and genotype-phenotype correlations.
Epilepsia 2007;48(6):1092-6.
2007: Gloria Bonuccelli; Federica Sotgia; Franco Capozza; Elisabetta Gazzerro; Carlo Minetti; Michael P Lisanti
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: Roberta Biancheri; Andrea Rossi; Giannina Alpigiani; Mirella Filocamo; Carlo Gandolfo; Renata Lorini; Carlo Minetti
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: Pasquale Striano; Andrea Elefante; Antonietta Coppola; Fabio Tortora; Federico Zara; Carlo Minetti; Salvatore Striano
Dramatic response to levetiracetam in post-ischaemic Holmes' tremor.
Journal of neurology, neurosurgery, and psychiatry 2007;78(4):438-9.
2007: Mario Pescatori; Aldobrando Broccolini; Carlo Minetti; Enrico Bertini; Claudio Bruno; Adele D'Amico; Camilla Bernardini; Massimiliano Mirabella; Gabriella Silvestri; Vincenzo Giglio; Anna Modoni; Marina Pedemonte; Giorgio Tasca; Giuliana Galluzzi; Eugenio Mercuri; Pietro A Tonali; Enzo Ricci
Gene expression profiling in the early phases of DMD: a constant molecular signature characterizes DMD muscle from early postnatal life throughout disease progression.
FASEB journal : official publication of the Federation of American Societies for Experimental Biology 2007;21(4):1210-26.
2007: William Schubert; Federica Sotgia; Alex W Cohen; Franco Capozza; Gloria Bonuccelli; Claudio Bruno; Carlo Minetti; Eduardo Bonilla; Salvatore DiMauro; Michael P Lisanti
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: Antonio Falace; Pasquale Striano; Fiore Manganelli; Antonino Coppola; Salvatore Striano; Carlo Minetti; Federico Zara
Inherited neuromyotonia: a clinical and genetic study of a family.
Neuromuscular disorders : NMD 2007;17(1):23-7.
2006: Denise Cassandrini; Salvatore Savasta; Mauro Bozzola; Alessandra Tessa; Marina Pedemonte; Stefania Assereto; Silvia Stringara; Carlo Minetti; Filippo M Santorelli; Claudio Bruno
Mitochondrial DNA deletion in a child with mitochondrial encephalomyopathy, growth hormone deficiency, and hypoparathyroidism.
Journal of child neurology 2006;21(11):983-5.
2006: Pasquale Striano; Federico Zara; Carlo Minetti; Salvatore Striano
Epileptic seizures can follow high doses of oral vardenafil.
BMJ (Clinical research ed.) 2006;333(7572):785.
2006: Francesca Madia; Pasquale Striano; Elena Gennaro; Michela Malacarne; Roberta Paravidino; Roberta Biancheri; M Budetta; M R Cilio; Roberto Gaggero; Mauro Pierluigi; Carlo Minetti; Federico Zara
Cryptic chromosome deletions involving SCN1A in severe myoclonic epilepsy of infancy.
Neurology 2006;67(7):1230-5.
2006: Roberta Biancheri; Enrico Bertini; Antonio Falace; Marina Pedemonte; Andrea Rossi; Adele D'Amico; Sara Scapolan; Laura Bergamino; Stefania Petrini; Denise Cassandrini; Paolo Broda; Mario Manfredi; Federico Zara; Filippo M Santorelli; Carlo Minetti; Claudio Bruno
POMGnT1 mutations in congenital muscular dystrophy: genotype-phenotype correlation and expanded clinical spectrum.
Archives of neurology 2006;63(10):1491-5.
2006: Federico Zara; Roberta Biancheri; Claudio Bruno; Laura Bordo; Stefania Assereto; Elisabetta Gazzerro; Federica Sotgia; Xiao Bo Wang; Stefania Gianotti; Silvia Stringara; Marina Pedemonte; Graziella Uziel; Andrea Rossi; Angelo Schenone; Paolo Tortori-Donati; Marjo S van der Knaap; Michael P Lisanti; Carlo Minetti
Deficiency of hyccin, a newly identified membrane protein, causes hypomyelination and congenital cataract.
Nature genetics 2006;38(10):1111-3.
2006: Roberta Biancheri; Federico Zara; Pasquale Striano; Marina Pedemonte; Denise Cassandrini; Silvia Stringara; Fiore Manganelli; Lucio Santoro; Angelo Schenone; Emilia Bellone; Carlo Minetti
GDAP1 mutation in autosomal recessive Charcot-Marie-Tooth with pyramidal features.
Journal of neurology 2006;253(9):1234-5.
2006: Claudio Bruno; Denise Cassandrini; Andrea Martinuzzi; Antonio Toscano; Maurizio Moggio; Lucia Morandi; Serenella Servidei; Tiziana Mongini; Corrado Angelini; Olimpia Musumeci; Giacomo P Comi; Costanza Lamperti; Massimiliano Filosto; Federico Zara; Carlo Minetti
McArdle disease: the mutation spectrum of PYGM in a large Italian cohort.
Human mutation 2006;27(7):718.
2006: Pasquale Striano; Maria Luisa Lispi; Elena Gennaro; Francesca Madia; Monica Traverso; Laura Bordo; paolo aridon; Baldassare Barone; Bernardo Dalla Bernardina; Amedeo Bianchi; Giuseppe Capovilla; Pasquale De Marco; Olivier Dulac; Roberto Gaggero; Antonio Gambardella; Rima Nabbout; Jean-François Prud'homme; Ruth Day; Francesca Vanadia; Marilena Vecchi; Pierangelo Veggiotti; Federico Vigevano; Maurizio Viri; Carlo Minetti; Filippo Martinelli Boneschi; Federico Zara
Linkage analysis and disease models in benign familial infantile seizures: a study of 16 families.
Epilepsia 2006;47(6):1029-34.
2006: Denise Cassandrini; Maria Grazia Calevo; Alessandra Tessa; Giovanni Manfredi; Fabiana Fattori; Maria Chiara Meschini; Rosalba Carrozzo; Emmanuel Tonoli; Marina Pedemonte; Carlo Minetti; Federico Zara; Filippo M Santorelli; Claudio Bruno
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: Elena Gennaro; Filippo M Santorelli; Enrico Bertini; Daniela Buti; Roberto Gaggero; Giuseppe Gobbi; Marcella Lini; Tiziana Granata; Elena Freri; Antonia Parmeggiani; Pasquale Striano; Pierangelo Veggiotti; Simonetta Cardinali; Franca Dagna Bricarelli; Carlo Minetti; Federico Zara
Somatic and germline mosaicisms in severe myoclonic epilepsy of infancy.
Biochemical and biophysical research communications 2006;341(2):489-93.
2006: Stefania Assereto; Silvia Stringara; Federica Sotgia; Gloria Bonuccelli; Aldobrando Broccolini; Marina Pedemonte; Monica Traverso; Roberta Biancheri; Federico Zara; Claudio Bruno; Michael P Lisanti; Carlo Minetti
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: Monica Traverso; Mauro S Malnati; Carlo Minetti; Stefano Regis; Silvana Tedeschi; Marina Pedemonte; Claudio Bruno; Roberto Biassoni; Federico Zara
Multiplex real-time PCR for detection of deletions and duplications in dystrophin gene.
Biochemical and biophysical research communications 2006;339(1):145-50.
2006: Pasquale Striano; Laura Bordo; Maria Luisa Lispi; Nicola Specchio; Carlo Minetti; Federico Vigevano; Federico Zara
A novel SCN2A mutation in family with benign familial infantile seizures.
Epilepsia 2006;47(1):218-20.
2006: Federica Sotgia; Terence M Williams; William Schubert; Freddy A Medina; Carlo Minetti; Richard G Pestell; Michael P Lisanti
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.
2005: Pasquale Striano; Francesca Madia; Carlo Minetti; Salvatore Striano; Federico Zara
Electroclinical and genetic findings in a family with cortical tremor, myoclonus, and epilepsy.
Epilepsia 2005;46(12):1993-5.
2005: Jiangwei Li; Ghada S Hassan; Terence M Williams; Carlo Minetti; Richard G Pestell; Herbert B Tanowitz; Philippe G Frank; Federica Sotgia; Michael P Lisanti
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: Federica Sotgia; Terence M Williams; Alex W Cohen; Carlo Minetti; Richard G Pestell; Michael P Lisanti
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: Roberta Biancheri; Andrea Rossi; H A Verbeek; Robert Schot; Fabio Corsolini; Stefania Assereto; Grazia M S Mancini; Frans W Verheijen; Carlo Minetti; Mirella Filocamo
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: Carlo Minetti; Marco Gattorno; Silvia Repetto; Andrea Gregorio; Marina Pedemonte; Stefania Assereto; Federico Zara; Claudio Bruno; Alberto Martini
Chemokine receptor CCR7 is expressed in muscle fibers in juvenile dermatomyositis.
Biochemical and biophysical research communications 2005;333(2):540-3.
2004: Roberta Biancheri; Andrea Rossi; Paolo Tortori-Donati; Silvia Stringara; S Bonifacino; Carlo Minetti
Middle interhemispheric variant of holoprosencephaly: a very mild clinical case.
Neurology 2004;63(11):2194-6.
2004: Claudio Bruno; Otto P van Diggelen; Denise Cassandrini; M Gimpelev; B Giuffrè; Maria Alice Donati; P Introvini; A Alegria; Stefania Assereto; Lucia Morandi; M Mora; Emmanuel Tonoli; S Mascelli; Monica Traverso; E Pasquini; Massimo Bado; L Vilarinho; G van Noort; F Mosca; Salvatore DiMauro; Federico Zara; Carlo Minetti
Clinical and genetic heterogeneity of branching enzyme deficiency (glycogenosis type IV).
Neurology 2004;63(6):1053-8.
2004: Aldobrando Broccolini; Enzo Ricci; Denise Cassandrini; Carla Gliubizzi; Claudio Bruno; Emmanuel Tonoli; Gabriella Silvestri; Mario Pescatori; Carmelo Rodolico; Stefano Sinicropi; Serenella Servidei; Federico Zara; Carlo Minetti; Pietro A Tonali; Massimiliano Mirabella
Novel GNE mutations in Italian families with autosomal recessive hereditary inclusion-body myopathy.
Human mutation 2004;23(6):632.
2004: Scott E Woodman; Federica Sotgia; Ferruccio Galbiati; Carlo Minetti; Michael P Lisanti
Caveolinopathies: mutations in caveolin-3 cause four distinct autosomal dominant muscle diseases.
Neurology 2004;62(4):538-43.
2004: Claudio Bruno; Enrico Bertini; A Federico; Emmanuel Tonoli; Maria Luisa Lispi; Denise Cassandrini; Marina Pedemonte; Filippo M Santorelli; Mirella Filocamo; M T Dotti; Angelo Schenone; A Malandrini; Carlo Minetti
Clinical and molecular findings in patients with giant axonal neuropathy (GAN).
Neurology 2004;62(1):13-6.
2004: Claudio Bruno; Carlo Minetti
Congenital myopathies.
Current neurology and neuroscience reports 2004;4(1):68-73.
2003: Federica Sotgia; Gloria Bonuccelli; Carlo Minetti; Scott E Woodman; Franco Capozza; Robert G Kemp; Philipp E Scherer; Michael P Lisanti
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: Federica Sotgia; Scott E Woodman; Gloria Bonuccelli; Franco Capozza; Carlo Minetti; Philipp E Scherer; Michael P Lisanti
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: Gloria Bonuccelli; Federica Sotgia; William Schubert; David S Park; Philippe G Frank; Scott E Woodman; Luigi Insabato; Michael Cammer; Carlo Minetti; Michael P Lisanti
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: Claudio Bruno; Filippo M Santorelli; Stefania Assereto; Emmanuel Tonoli; Alessandra Tessa; Monica Traverso; Sara Scapolan; Massimo Bado; Silvana Tedeschi; Carlo Minetti
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: Claudio Bruno; Oliviero Sacco; Filippo M Santorelli; Stefania Assereto; Emmanuel Tonoli; Massimo Bado; Giovanni A Rossi; Carlo Minetti
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: Luciano Merlini; I Carbone; Cristina Capanni; Patrizia Sabatelli; S Tortorelli; Federica Sotgia; Michael P Lisanti; Claudio Bruno; Carlo Minetti
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: Antonio Frigeri; Grazia Paola Nicchia; Silvia Repetto; Massimo Bado; Carlo Minetti; Maria Svelto
Altered aquaporin-4 expression in human muscular dystrophies: a common feature?
FASEB journal : official publication of the Federation of American Societies for Experimental Biology 2002;16(9):1120-2.
2002: Claudio Bruno; P Gandullia; Filippo M Santorelli; Claudia Biedi; I Carbone; Massimo Bado; R Gatti; Carlo Minetti
Tubulopathy, endocrinopathies and encephalomyopathy in a child with a novel large-scale mitochondrial DNA deletion.
Clinical genetics 2002;61(6):465-7.
2002: Claudio Bruno; Roberta Lanzillo; Claudia Biedi; Lucia Iadicicco; Carlo Minetti; Lucio Santoro
Two new mutations in the myophosphorylase gene in Italian patients with McArdle's disease.
Neuromuscular disorders : NMD 2002;12(5):498-500.
2002: Federica Sotgia; Babak Razani; Gloria Bonuccelli; William Schubert; Michela Battista; Hyangkyu Lee; Franco Capozza; Ann Lane Schubert; Carlo Minetti; J Thomas Buckley; Michael P Lisanti
Intracellular retention of glycosylphosphatidyl inositol-linked proteins in caveolin-deficient cells.
Molecular and cellular biology 2002;22(11):3905-26.
2002: Claudio Bruno; Roberta Biancheri; Barbara Garavaglia; Claudia Biedi; Andrea Rossi; Laura Doria Lamba; Massimo Bado; Marilena Greco; Massimo Zeviani; Carlo Minetti
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: Carlo Minetti; Massimo Bado; Paolo Broda; Federica Sotgia; Claudio Bruno; Ferruccio Galbiati; Daniela Volonte; Giuseppe Lucania; Antonio Pavan; Eduardo Bonilla; Michael P Lisanti; Giuseppe Cordone
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: Ferruccio Galbiati; Jeffery A Engelman; Daniela Volonte; XL Zhang; Carlo Minetti; Maomi Li; Harry Hou; Burkhard Kneitz; Winfried Edelmann; Michael P Lisanti
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: Federica Sotgia; J K Lee; K Das; Mark Bedford; Tamara C Petrucci; Pompeo Macioce; M Sargiacomo; Franca Dagna Bricarelli; Carlo Minetti; Marius Sudol; Michael P Lisanti
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: Ferruccio Galbiati; Daniela Volonte; Carlo Minetti; D B Bregman; Michael P Lisanti
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: Claudio Bruno; Massimo Bado; Carlo Minetti; Giuseppe Cordone; Salvatore DiMauro
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: I Carbone; Claudio Bruno; Federica Sotgia; Massimo Bado; Paolo Broda; E Masetti; A Panella; Federico Zara; Franca Dagna Bricarelli; Giuseppe Cordone; Michael P Lisanti; Carlo Minetti
Mutation in the CAV3 gene causes partial caveolin-3 deficiency and hyperCKemia.
Neurology 2000;54(6):1373-6.
1999: Claudio Bruno; M DiRocco; Laura Doria Lamba; Massimo Bado; C Marino; S Tsujino; Sara Shanske; G Stella; Carlo Minetti; Otto P van Diggelen; Salvatore DiMauro
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: Ferruccio Galbiati; Daniela Volonte; Carlo Minetti; J B Chu; Michael P Lisanti
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: Silvia Repetto; Massimo Bado; Paolo Broda; Giuseppe Lucania; E Masetti; Federica Sotgia; I Carbone; Antonio Pavan; Eduardo Bonilla; Giuseppe Cordone; Michael P Lisanti; Carlo Minetti
Increased number of caveolae and caveolin-3 overexpression in Duchenne muscular dystrophy.
Biochemical and biophysical research communications 1999;261(3):547-50.
1999: Federica Sotgia; Carlo Minetti; Michael P Lisanti
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: Marina Pedemonte; Claudia Sandri; Stefano Schiaffino; Carlo Minetti
Early decrease of IIx myosin heavy chain transcripts in Duchenne muscular dystrophy.
Biochemical and biophysical research communications 1999;255(2):466-9.
1998: Jeffery A Engelman; X Zhang; Ferruccio Galbiati; Daniela Volonte; Federica Sotgia; Richard G Pestell; Carlo Minetti; Philipp E Scherer; T Okamoto; Michael P Lisanti
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: Claudio Bruno; Massimo Bado; Carlo Minetti; Giuseppe Cordone
Forearm semi-ischemic exercise test in pediatric patients.
Journal of child neurology 1998;13(6):288-90.
1998: Claudio Bruno; Carlo Minetti; Y Tang; P J Magalhães; Filippo M Santorelli; Sara Shanske; Massimo Bado; Giuseppe Cordone; R Gatti; Salvatore DiMauro
Primary adrenal insufficiency in a child with a mitochondrial DNA deletion.
Journal of inherited metabolic disease 1998;21(2):155-61.
1998: Carlo Minetti; Federica Sotgia; Claudio Bruno; Paolo Scartezzini; Paolo Broda; Massimo Bado; E Masetti; Michela Mazzocco; Aliana Egeo; Maria Alice Donati; Daniela Volonte; Ferruccio Galbiati; Giuseppe Cordone; Franca Dagna Bricarelli; Michael P Lisanti; Federico Zara
Mutations in the caveolin-3 gene cause autosomal dominant limb-girdle muscular dystrophy.
Nature genetics 1998;18(4):365-8.
1998: Carlo Minetti; Barbara Garavaglia; Massimo Bado; Federica Invernizzi; Claudio Bruno; M Rimoldi; Roser Pons; Franco Taroni; Giuseppe Cordone
Very-long-chain acyl-coenzyme A dehydrogenase deficiency in a child with recurrent myoglobinuria.
Neuromuscular disorders : NMD 1998;8(1):3-6.
1998: Carlo Minetti; Giuseppe Cordone; F Beltrame; Massimo Bado; Eduardo Bonilla
Disorganization of dystrophin costameric lattice in Becker muscular dystrophy.
Muscle & nerve 1998;21(2):211-6.
1998: Claudio Bruno; Carlo Minetti; Sara Shanske; GIUSEPPE MORREALE; Massimo Bado; Giuseppe Cordone; Salvatore DiMauro
Combined defects of muscle phosphofructokinase and AMP deaminase in a child with myoglobinuria.
Neurology 1998;50(1):296-8.
1996: Giuseppe Cordone; Massimo Bado; GIUSEPPE MORREALE; M Pedemonte; Carlo Minetti
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: Carlo Minetti; Massimo Bado; GIUSEPPE MORREALE; M Pedemonte; Giuseppe Cordone
Disruption of muscle basal lamina in congenital muscular dystrophy with merosin deficiency.
Neurology 1996;46(5):1354-8.
1996: Carlo Minetti; M Hirano; GIUSEPPE MORREALE; M Pedemonte; Giuseppe Cordone; Arthur P Hays; Eduardo Bonilla
Ubiquitin expression in acute steroid myopathy with loss of myosin thick filaments.
Muscle & nerve 1996;19(1):94-6.
1995: Massimo Bado; Claudio Bruno; GIUSEPPE MORREALE; F Parisi; Carlo Minetti; Giuseppe Cordone
[Early myoclonic encephalopathy and spinal muscular atrophy type I].
Minerva pediatrica 1995;47(6):233-8.
1994: Claudio Bruno; A Iester; Massimo Bado; GIUSEPPE MORREALE; Paolo Broda; Carlo Minetti; A Cordone; Giuseppe Cordone
[Muscle phosphorylase deficiency in childhood. A case report].
Minerva pediatrica 1994;46(10):459-62.
1994: Carlo Minetti; Kurenai Tanji; P G Rippa; GIUSEPPE MORREALE; Giuseppe Cordone; Eduardo Bonilla
Abnormalities in the expression of beta-spectrin in Duchenne muscular dystrophy.
Neurology 1994;44(6):1149-53.
1994: Michio Hirano; G Silvestri; D M Blake; A Lombes; Carlo Minetti; Eduardo Bonilla; Arthur P Hays; R E Lovelace; I Butler; T E Bertorini
Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE): clinical, biochemical, and genetic features of an autosomal recessive mitochondrial disorder.
Neurology 1994;44(4):721-7.
1993: Carlo Minetti; Kurenai Tanji; H W Chang; R Medori; Giuseppe Cordone; Salvatore DiMauro; Eduardo Bonilla
Dystrophinopathy in two young boys with exercise-induced cramps and myoglobinuria.
European journal of pediatrics 1993;152(10):848-51.
1992: Carlo Minetti; Kurenai Tanji; Eduardo Bonilla
Immunologic study of vinculin in Duchenne muscular dystrophy.
Neurology 1992;42(9):1751-4.
1992: Carlo Minetti; Francesco Beltrame; G Marcenaro; Eduardo Bonilla
Dystrophin at the plasma membrane of human muscle fibers shows a costameric localization.
Neuromuscular disorders : NMD 1992;2(2):99-109.
1991: Carlo Minetti; E Ricci; Eduardo Bonilla
Progressive depletion of fast alpha-actinin-positive muscle fibers in Duchenne muscular dystrophy.
Neurology 1991;41(12):1977-81.
1991: Giuseppe Cordone; Antonella Buoncompagni; O Ciccone; Carlo Minetti; L Fasce; R Scribanis; E De Langlade
[Infantile dermatomyositis. Clinical aspects and prospective treatments].
Minerva pediatrica 1991;43(10):621-30.
1991: Carlo Minetti; H W Chang; R Medori; Alessandro Prelle; Maurizio Moggio; S D Johnsen; Eduardo Bonilla
Dystrophin deficiency in young girls with sporadic myopathy and normal karyotype.
Neurology 1991;41(8):1288-92.
1991: Massimo Bado; Carlo Minetti; L Mallamaci; N Bresolin; L Leveratto; A Iester; Giuseppe Cordone
[The defect in muscular glucose-6-phosphate dehydrogenase].
Minerva pediatrica 1991;43(3):91-2.
1991: Giuseppe Cordone; Massimo Bado; Carlo Minetti
[Congenital myopathies].
Minerva pediatrica 1991;43(3):71-80.
1991: Eduardo Bonilla; Carlo Minetti; H W Chang; R Medori; Giuseppe Cordone; S Di Mauro
[Clinical,manifestations of the myopathies due to deletions/mutations of the dystrophin gene].
Minerva pediatrica 1991;43(3):67-70.
1991: T D McDonald; R Medori; DS Younger; H W Chang; Carlo Minetti; A Uncini; Eduardo Bonilla; Arthur P Hays; R E Lovelace
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: Salvatore DiMauro; Eduardo Bonilla; A Lombes; Sara Shanske; Carlo Minetti; Carlos T Moraes
Mitochondrial encephalomyopathies.
Neurologic clinics 1990;8(3):483-506.
1986: Carlo Minetti; Giuseppe Cordone; Massimo Bado
[Muscle needle biopsy: possibilities and limitations].
Minerva pediatrica 1986;38(15-16):661-2.
1984: Giuseppe Cordone; V Venzano; G Rossi; G Cavallero; Carlo Minetti
[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: A Iester; L Filingeri; A Marchesi; R Bonelli; Carlo Minetti; Giuseppe Cordone
[Intellectual deficit in progressive muscular dystrophy].
Minerva pediatrica 1984;36(9):441-5.
1984: Carlo Minetti; Giovanni Meola; Elio Scarpini; Giuseppe Cordone; Massimo Bado; G Scarlato
[The myopathy of congenital fiber type disproportion].
Minerva pediatrica 1984;36(4):181-7.
1983: E De Langlade; G Corazza; Carlo Minetti; Massimo Bado; V Venzano; F M Chiossi
[Ophthalmoplegia plus and ragged red fibers. Description of a case manifested in childhood].
Minerva pediatrica 1983;35(22):1117-23.
1980: V Venzano; Carlo Minetti; E Guglielmetto
[Differential diagnostic problems in hernia in infancy. Apropos of a case].
Minerva pediatrica 1980;32(20):1201-4.
1980: L Fasce; R Jamone; G Ragazzini; Carlo Minetti
[Intracranial hypertension and strabismus in a 5 year old child after nalidixic acid].
Minerva pediatrica 1980;32(11):751-3.
1980: V Venzano; G Conforti; A Marchesi; Carlo Minetti; A Iester
[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: Carlo Minetti; G Zoppi; G Conforti; V Venzano
[Breast feeding today. A statistical study in the city of Genoa].
Minerva pediatrica 1980;32(8):543-6.