Works by Bruno, Claudio

Results: 144

D‐ and L‐Amino Acid Blood Concentrations Are Affected in Children With Duchenne Muscular Dystrophy.

Published in:

Journal of Cellular & Molecular Medicine, 2025, v. 29, n. 9, p. 1, doi. 10.1111/jcmm.70495

By:

Garofalo, Martina;
Panicucci, Chiara;
Imarisio, Alberto;
Nuzzo, Tommaso;
Brolatti, Noemi;
De Stefano, Maria Egle;
Valente, Enza Maria;
Errico, Francesco;
Bruno, Claudio;
Usiello, Alessandro

Publication type:

Article

Synthesis and in vitro sodium channel blocking activity evaluation of novel homochiral mexiletine analogs.

Published in:

Chirality, 2010, v. 22, n. 3, p. 299, doi. 10.1002/chir.20741

By:

Carocci, Alessia;
Catalano, Alessia;
Bruno, Claudio;
Lentini, Giovanni;
Franchini, Carlo;
De Bellis, Michela;
De Luca, Annamaria;
Conte Camerino, Diana

Publication type:

Article

Facile, alternative route to Lubeluzole, its enantiomer, and the racemate.

Published in:

Chirality, 2006, v. 18, n. 4, p. 227, doi. 10.1002/chir.20240

By:

Bruno, Claudio;
Carocci, Alessia;
Catalano, Alessia;
Cavalluzzi, Maria M.;
Corbo, Filomena;
Franchini, Carlo;
Lentini, Giovanni;
Tortorella, Vincenzo

Publication type:

Article

Zidovudine ameliorates pathology in the mouse model of Duchenne muscular dystrophy via P2RX7 purinoceptor antagonism.

Published in:

Acta Neuropathologica Communications, 2018, v. 6, n. 1, p. N.PAG, doi. 10.1186/s40478-018-0530-4

By:

Al-Khalidi, Rasha;
Panicucci, Chiara;
Cox, Paul;
Chira, Natalia;
Róg, Justyna;
Young, Christopher N. J.;
McGeehan, Rhiannon E.;
Ambati, Kameshwari;
Ambati, Jayakrishna;
Zabłocki, Krzysztof;
Gazzerro, Elisabetta;
Arkle, Stephen;
Bruno, Claudio;
Górecki, Dariusz C.

Publication type:

Article

MotorPlex provides accurate variant detection across large muscle genes both in single myopathic patients and in pools of DNA samples.

Published in:

Acta Neuropathologica Communications, 2014, v. 2, n. 1, p. 1, doi. 10.1186/s40478-014-0100-3

By:

Savarese, Marco;
Di Fruscio, Giuseppina;
Mutarelli, Margherita;
Torella, Annalaura;
Magri, Francesca;
Santorelli, Filippo;
Comi, Giacomo;
Bruno, Claudio;
Nigro, Vincenzo

Publication type:

Article

Mitochondrial Encephalomyopathy Due to a Novel Mutation in ACAD9.

Published in:

JAMA Neurology, 2013, v. 70, n. 9, p. 1177, doi. 10.1001/jamaneurol.2013.3197

By:

Garone, Caterina;
Donati, Maria Alice;
Sacchini, Michele;
Garcia-Diaz, Beatriz;
Bruno, Claudio;
Calvo, Sarah;
Mootha, Vamsi K.;
DiMauro, Salvatore

Publication type:

Article

Prevalence of Duchenne muscular dystrophy in Italy: a nationwide survey.

Published in:

European Journal of Pediatrics, 2025, v. 184, n. 1, p. 1, doi. 10.1007/s00431-024-05903-x

By:

Capasso, Anna;
Cicala, Gianpaolo;
Ricci, Martina;
Pane, Marika;
D'Amico, Adele;
Bruno, Claudio;
Sansone, Valeria Ada;
Messina, Sonia;
Bello, Luca;
Pegoraro, Elena;
D'Angelo, Maria Grazia;
Masson, Riccardo;
Berardinelli, Angela;
Pini, Antonella;
Ricci, Federica;
Mongini, Tiziana Enrica;
Coccia, Michela;
Nigro, Vincenzo;
Trabacca, Antonio;
Filosto, Massimiliano

Publication type:

Article

Body mass index in type 2 spinal muscular atrophy: a longitudinal study.

Published in:

European Journal of Pediatrics, 2022, v. 181, n. 5, p. 1923, doi. 10.1007/s00431-021-04325-3

By:

Ferrantini, Gloria;
Coratti, Giorgia;
Onesimo, Roberta;
Lucibello, Simona;
Bompard, Sarah;
Turrini, Ida;
Cicala, Graziamaria;
Caprarelli, Michela;
Pera, Maria Carmela;
Bravetti, Chiara;
Berti, Beatrice;
Giorgio, Valentina;
Bruno, Claudio;
Brolatti, Noemi;
Panicucci, Chiara;
D'Amico, Adele;
Longo, Antonella;
Leoni, Chiara;
Sansone, Valeria A.;
Albamonte, Emilio

Publication type:

Article

Targeting of Ubiquitin E3 Ligase RNF5 as a Novel Therapeutic Strategy in Neuroectodermal Tumors.

Published in:

Cancers, 2022, v. 14, n. 7, p. 1802, doi. 10.3390/cancers14071802

By:

Principi, Elisa;
Sondo, Elvira;
Bianchi, Giovanna;
Ravera, Silvia;
Morini, Martina;
Tomati, Valeria;
Pastorino, Cristina;
Zara, Federico;
Bruno, Claudio;
Eva, Alessandra;
Pedemonte, Nicoletta;
Raffaghello, Lizzia

Publication type:

Article

Susceptibility-Weighted Angiography of Intracranial Blood Products and Calcifications Compared to Gradient Echo Sequence.

Published in:

2013

By:

Docampo, Jorge;
Gonzalez, Nadia;
Bravo, Fernando;
Sarroca, Daniel;
Morales, Carlos;
Bruno, Claudio

Publication type:

Journal Article

Susceptibility-Weighted Angiography of Intracranial Blood Products and Calcifications Compared to Gradient Echo Sequence.

Published in:

Neuroradiology Journal, 2013, v. 26, n. 5, p. 493, doi. 10.1177/197140091302600501

By:

DOCAMPO, JORGE;
GONZALEZ, NADIA;
BRAVO, FERNANDO;
SARROCA, DANIEL;
MORALES, CARLOS;
BRUNO, CLAUDIO

Publication type:

Article

Mitochondrial DNA Deletion in a Child With Mitochondrial Encephalomyopathy, Growth Hormone Deficiency, and Hypoparathyroidism.

Published in:

Journal of Child Neurology, 2006, v. 21, n. 11, p. 983, doi. 10.1177/08830738060210111001

By:

Cassandrini, Denise;
Savasta, Salvatore;
Bozzola, Mauro;
Tessa, Alessandra;
Pedemonte, Marina;
Assereto, Stefania;
Stringara, Silvia;
Minetti, Carlo;
Santorelli, Filippo M.;
Bruno, Claudio

Publication type:

Article

Mitochondrial Myopathy and Respiratory Failure Associated With a New Mutation in the Mitochondrial Transfer Ribonucleic Acid Glutamic Acid Gene.

Published in:

Journal of Child Neurology, 2003, v. 18, n. 4, p. 300, doi. 10.1177/08830738030180040401

By:

Bruno, Claudio;
Sacco, Oliviero;
Santorelli, Filippo M.;
Assereto, Stefania;
Tonoli, Emmanuel;
Bado, Massimo;
Rossi, Giovanni A.;
Minetti, Carlo

Publication type:

Article

A Novel Mutation in the SURF1 Gene in a Child With Leigh Disease, Peripheral Neuropathy, and Cytochrome-c Oxidase Deficiency.

Published in:

Journal of Child Neurology, 2002, v. 17, n. 3, p. 235, doi. 10.1177/088307380201700318

By:

Bruno, Claudio;
Biancheri, Roberta;
Garavaglia, Barbara;
Biedi, Claudia;
Rossi, Andrea;
Lamba, Laura Doria;
Bado, Massimo;
Greco, Marilena;
Zeviani, Massimo;
Minetti, Carlo

Publication type:

Article

G8363A Mutation in the Mitochondrial DNA Transfer Ribonucleic AcidLys Gene: Another Cause of...

Published in:

Journal of Child Neurology, 2000, v. 15, n. 11, p. 759

By:

Shtilbans, Alexander;
Shanske, Sara;
Goodman, Svetlana;
Sue, Carolyn M.;
Bruno, Claudio;
Johnson, Theodore L.;
Lava, Neil S.;
Waheed, Nasir;
DiMauro, Salvatore

Publication type:

Article

Novel Mutation in the CPT II Gene in a Child With Periodic Febrile Myalgia and Myoglobinuria.

Published in:

Journal of Child Neurology, 2000, v. 15, n. 6, p. 390

By:

Bruno, Claudio;
Bado, Massimo;
Minetti, Carlo;
Cordone, Giuseppe;
DiMauro, Salvatore

Publication type:

Article

Brief Communications.

Published in:

Journal of Child Neurology, 1998, v. 13, n. 6, p. 288

By:

Bruno, Claudio;
Bado, Massimo;
Minetti, Carlo;
Condone, Giuseppe;
Kumura, Shigemi;
Fujishita, Satoshi;
Ikezawa, Makoto;
Abe, Kuniya;
Miike, Teruhisa;
Dooley, Joseph;
Gordon, Kevin;
Dooley, Kent;
Miller, Van S.;
Packard, A. Maurine;
Jambaque, Isabelle;
Chiron, Catherine;
Kaminska, Anna;
Plouin, Perrine;
Dulac, Olivier

Publication type:

Article

Detection of early nocturnal hypoventilation in neuromuscular disorders.

Published in:

Journal of International Medical Research, 2018, v. 46, n. 3, p. 1153, doi. 10.1177/0300060517728857

By:

Trucco, Federica;
Pedemonte, Marina;
Fiorillo, Chiara;
Tan, Hui-leng;
Carlucci, Annalisa;
Brisca, Giacomo;
Tacchetti, Paola;
Bruno, Claudio;
Minetti, Carlo

Publication type:

Article

Neuromuscular Disorders in Zebrafish: State of the Art and Future Perspectives.

Published in:

NeuroMolecular Medicine, 2013, v. 15, n. 2, p. 405, doi. 10.1007/s12017-013-8228-z

By:

Pappalardo, Andrea;
Pitto, Letizia;
Fiorillo, Chiara;
Alice Donati, M.;
Bruno, Claudio;
Santorelli, Filippo

Publication type:

Article

Neutral Lipid Storage Diseases: clinical/genetic features and natural history in a large cohort of Italian patients.

Published in:

2017

By:

Pennisi, Elena Maria;
Arca, Marcello;
Bertini, Enrico;
Bruno, Claudio;
Cassandrini, Denise;
D'amico, Adele;
Garibaldi, Matteo;
Gragnani, Francesca;
Maggi, Lorenzo;
Massa, Roberto;
Missaglia, Sara;
Morandi, Lucia;
Musumeci, Olimpia;
Pegoraro, Elena;
Rastelli, Emanuele;
Santorelli, Filippo Maria;
Tasca, Elisabetta;
Tavian, Daniela;
Toscano, Antonio;
Angelini, Corrado

Publication type:

journal article

Clinical Phenotype of Pediatric and Adult Patients With Spinal Muscular Atrophy With Four SMN2 Copies: Are They Really All Stable?

Published in:

Annals of Neurology, 2023, v. 94, n. 6, p. 1126, doi. 10.1002/ana.26788

By:

Ricci, Martina;
Cicala, Gianpaolo;
Capasso, Anna;
Coratti, Giorgia;
Fiori, Stefania;
Cutrona, Costanza;
D'Amico, Adele;
Sansone, Valeria A.;
Bruno, Claudio;
Messina, Sonia;
Mongini, Tiziana;
Coccia, Michela;
Siciliano, Gabriele;
Pegoraro, Elena;
Masson, Riccardo;
Filosto, Massimiliano;
Comi, Giacomo P.;
Corti, Stefania;
Ronchi, Dario;
Maggi, Lorenzo

Publication type:

Article

Nusinersen in type 1 spinal muscular atrophy: Twelve-month real-world data.

Published in:

2019

By:

Pane, Marika;
Coratti, Giorgia;
Sansone, Valeria A.;
Messina, Sonia;
Bruno, Claudio;
Catteruccia, Michela;
Sframeli, Maria;
Albamonte, Emilio;
Pedemonte, Marina;
D'Amico, Adele;
Bravetti, Chiara;
Berti, Beatrice;
Brigati, Giorgia;
Tacchetti, Paola;
Salmin, Francesca;
de Sanctis, Roberto;
Lucibello, Simona;
Piastra, Marco;
Genovese, Orazio;
Bertini, Enrico

Publication type:

journal article

Facile routes for the preparation of 3,4-disubstituted 1,3-oxazolidines and 1,2,5-trisubstituted imidazolidin-4-ones.

Published in:

Journal of Heterocyclic Chemistry, 2011, v. 48, n. 2, p. 261, doi. 10.1002/jhet.536

By:

Catalano, Alessia;
Carocci, Alessia;
Lentini, Giovanni;
Di Mola, Antonia;
Bruno, Claudio;
Franchini, Carlo

Publication type:

Article

1-Pentanoyl- N-{[2'-(1 H-tetrazol-5-yl)biphenyl-4-yl]methyl}-pyrrolidine-2-carboxamide: Investigation of Structural Variations.

Published in:

Archiv der Pharmazie, 2011, v. 344, n. 9, p. 617, doi. 10.1002/ardp.201000296

By:

Catalano, Alessia;
Carocci, Alessia;
Di Mola, Antonia;
Bruno, Claudio;
Vanderheyden, Patrick M. L.;
Franchini, Carlo

Publication type:

Article

Pontocerebellar hypoplasia type 6 caused by mutations in RARS2: definition of the clinical spectrum and molecular findings in five patients.

Published in:

Journal of Inherited Metabolic Disease, 2013, v. 36, n. 1, p. 43, doi. 10.1007/s10545-012-9487-9

By:

Cassandrini, Denise;
Cilio, Maria;
Bianchi, Marzia;
Doimo, Mara;
Balestri, Martina;
Tessa, Alessandra;
Rizza, Teresa;
Sartori, Geppo;
Meschini, Maria;
Nesti, Claudia;
Tozzi, Giulia;
Petruzzella, Vittoria;
Piemonte, Fiorella;
Bisceglia, Luigi;
Bruno, Claudio;
Dionisi-Vici, Carlo;
D'Amico, Adele;
Fattori, Fabiana;
Carrozzo, Rosalba;
Salviati, Leonardo

Publication type:

Article

Cerebellar hypoplasia and brainstem thinning associated with severe white matter and basal ganglia abnormalities in a child with an mtDNA deletion.

Published in:

Journal of Inherited Metabolic Disease, 2011, v. 34, n. 6, p. 1225, doi. 10.1007/s10545-011-9376-7

By:

Biancheri, Roberta;
Bruno, Claudio;
Cassandrini, Denise;
Bertini, Enrico;
Santorelli, Filippo;
Rossi, Andrea

Publication type:

Article

Disease Trajectories in the Revised Hammersmith Scale in a Cohort of Untreated Patients with Spinal Muscular Atrophy types 2 and 3.

Published in:

Journal of Neuromuscular Diseases, 2024, v. 11, n. 3, p. 665, doi. 10.3233/JND-230211

By:

Wolfe, Amy;
Stimpson, Georgia;
Ramsey, Danielle;
Coratti, Giorgia;
Dunaway Young, Sally;
Mayhew, Anna;
Pane, Marika;
Rohwer, Annemarie;
Muni Lofra, Robert;
Duong, Tina;
O'Reilly, Emer;
Milev, Evelin;
Civitello, Matthew;
Sansone, Valeria A.;
D'Amico, Adele;
Bertini, Enrico;
Messina, Sonia;
Bruno, Claudio;
Albamonte, Emilio;
Mazzone, Elena

Publication type:

Article

Effect of toxoplasmic infection on the biodistribution of a brain radiopharmaceutical.

Published in:

International Journal of Radiation Biology, 2019, v. 95, n. 11, p. 1547, doi. 10.1080/09553002.2019.1642533

By:

Urbano, João Cláudio da Costa;
Leite, Ranny Beatriz de Carvalho Holanda;
Castro, Renan Leopoldo Pereira;
Silva, Clarice Maux Vianna da;
Andrade, Joelma Maria de Araújo;
Oliveira, Cláudio Bruno Silva de;
Barbosa, Vanessa Santos de Arruda;
Andrade-Neto, Valter Ferreira de;
Holanda, Cecília Maria de Carvalho Xavier

Publication type:

Article

MRI in the diagnosis and surgical management of abnormal placentation.

Published in:

Acta Obstetricia et Gynecologica Scandinavica, 2013, v. 92, n. 4, p. 392, doi. 10.1111/j.1600-0412.2012.01527.x

By:

PALACIOS‐JARAQUEMADA, JOSÉ MIGUEL;
BRUNO, CLAUDIO HERNÁN;
MARTÍN, EDUARDO

Publication type:

Article

Reply.

Published in:

2006

By:

Jaraquemada, José Miguel Palacios;
Claudio Hernán, Bruno

Publication type:

Letter

Magnetic resonance imaging in 300 cases of placenta accreta: surgical correlation of new findings.

Published in:

Acta Obstetricia et Gynecologica Scandinavica, 2005, v. 84, n. 8, p. 716, doi. 10.1111/j.0001-6349.2005.00832.x

By:

Jaraquemada, JosÉ M. Palacios;
Bruno, Claudio H.

Publication type:

Article

Phenotypic characterization of hypomyelination and congenital cataract.

Published in:

Annals of Neurology, 2007, v. 62, n. 2, p. 121, doi. 10.1002/ana.21175

By:

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

Publication type:

Article

A novel mitochondrial 12SrRNA point mutation in parkinsonism, deafness, and neuropathy.

Published in:

Annals of Neurology, 2000, v. 48, n. 5, p. 730, doi. 10.1002/1531-8249(200011)48:5<730::AID-ANA6>3.0.CO;2-0

By:

Thyagarajan, Dominic;
Bressman, Susan;
Bruno, Claudio;
Przedborski, Serge;
Shanske, Sara;
Lynch, Timothy;
Fahn, Stanley;
DiMauro, Salvatore

Publication type:

Article

Glycogen branching enzyme deficiency in adult polyglucosan body disease.

Published in:

Annals of Neurology, 1993, v. 33, n. 1, p. 88, doi. 10.1002/ana.410330114

By:

Bruno, Claudio;
Servidei, Serenella;
Shanske, Sara;
Karpati, George;
Carpenter, Stirling;
McKee, David;
Barohn, Richard J.;
Hirano, Michio;
Rifai, Ziad;
Dimauro, Salvatore

Publication type:

Article

Gene expression profiling in the early phases of DMD: a constant molecular signature characterizes DMD muscle from early postnatal life throughout disease progression.

Published in:

FASEB Journal, 2007, v. 21, n. 4, p. 1210, doi. 10.1096/fj.06-7285com

By:

Pescatori, Mario;
Broccolini, Aldobrando;
Minetti, Carlo;
Bertini, Enrico;
Bruno, Claudio;
D'amico, Adele;
Bernardini, Camilla;
Mirabela, Massimiliano;
Silvestri, Gabriella;
Giglio, Vincenzo;
Modoni, Anna;
Pedemonte, Marina;
Tasca, Giorgio;
Galluzzi, Giuliana;
Mercuri, Eugenio;
Tonali, Pietro A.;
Ricci, Enzo

Publication type:

Article

Productivity Competitiveness among Non Cooperating Integrated Economies: A Negative-Sum Game.

Published in:

LABOUR: Review of Labour Economics & Industrial Relations, 1989, v. 3, n. 1, p. 73, doi. 10.1111/j.1467-9914.1989.tb00149.x

By:

Sardoni, Sergio Bruno-Claudio

Publication type:

Article

The Role of Muscle Biopsy in Diagnostic Process of Infant Hypotonia: From Clinical Classification to the Genetic Outcome.

Published in:

Frontiers in Neurology, 2021, v. 12, p. 1, doi. 10.3389/fneur.2021.735488

By:

Veneruso, Marco;
Fiorillo, Chiara;
Broda, Paolo;
Baratto, Serena;
Traverso, Monica;
Donati, Alice;
Savasta, Salvatore;
Falsaperla, Raffaele;
Mancardi, Maria Margherita;
Pedemonte, Marina;
Panicucci, Chiara;
Piatelli, Gianluca;
Pacetti, Mattia;
Moscatelli, Andrea;
Ramenghi, Luca Antonio;
Nobili, Lino;
Minetti, Carlo;
Bruno, Claudio

Publication type:

Article

Monkeypox: A looming concern for children?

Published in:

Asian Pacific Journal of Tropical Medicine, 2022, v. 15, n. 8, p. 335, doi. 10.4103/1995-7645.353919

By:

Silva de Oliveira, Claudio Bruno;
de Araújo Andrade, Joelma Maria;
Nobre Oliveira, Jonas Ivan

Publication type:

Article

Some Key Issues in Hypersonic Propulsion.

Published in:

Energies (19961073), 2021, v. 14, n. 12, p. 3690, doi. 10.3390/en14123690

By:

Bruno, Claudio;
Ingenito, Antonella

Publication type:

Article

The Combustion Characteristics of Double Ramps in a Strut-Based Scramjet Combustor.

Published in:

Energies (19961073), 2021, v. 14, n. 4, p. 831, doi. 10.3390/en14040831

By:

Athithan, A. Antony;
Jeyakumar, S.;
Sczygiol, Norbert;
Urbanski, Mariusz;
Hariharasudan, A.;
Ingenito, Antonella;
Bruno, Claudio

Publication type:

Article

Fractal modelling of turbulent combustion.

Published in:

Combustion Theory & Modelling, 2000, v. 4, n. 4, p. 391, doi. 10.1088/1364-7830/4/4/302

By:

Giacomazzi, Eugenio;
Bruno, Claudio;
Favini, Bernardo

Publication type:

Article

Fractal modelling of turbulent mixing.

Published in:

Combustion Theory & Modelling, 1999, v. 3, n. 4, p. 637, doi. 10.1088/1364-7830/3/4/303

By:

Giacomazzi, Eugenio;
Bruno, Claudio;
Favini, Bernardo

Publication type:

Article

Synthesis and Evaluation of Voltage‐Gated Sodium Channel Blocking Pyrroline Derivatives Endowed with Both Antiarrhythmic and Antioxidant Activities.

Published in:

ChemMedChem, 2021, v. 16, n. 3, p. 578, doi. 10.1002/cmdc.202000692

By:

Carocci, Alessia;
Roselli, Mariagrazia;
Budriesi, Roberta;
Micucci, Matteo;
Desaphy, Jean‐François;
Altamura, Concetta;
Cavalluzzi, Maria Maddalena;
Toma, Maddalena;
Passeri, Giovanna Ilaria;
Milani, Gualtiero;
Lovece, Angelo;
Catalano, Alessia;
Bruno, Claudio;
De Palma, Annalisa;
Corbo, Filomena;
Franchini, Carlo;
Habtemariam, Solomon;
Lentini, Giovanni

Publication type:

Article

The Crystal Structure of N-[(2E)-3-(4-Chlorophenyl)prop-2-en-1-yl]-4-methoxy-N-methylbenzenesulfonamide.

Published in:

Journal of Chemical Crystallography, 2019, v. 49, n. 2, p. 87, doi. 10.1007/s10870-018-0739-x

By:

Carrozzini, Benedetta;
Belviso, Benny Danilo;
Bruno, Claudio;
Cavalluzzi, Maria Maddalena;
Lovece, Angelo;
Lentini, Giovanni;
Caliandro, Rocco

Publication type:

Article

A new mutation in the regulatory domain of the myophosphorylase gene affecting protein dimer contact.

Published in:

1999

By:

Gamez, Josep;
Fernandez, Roberto;
Bruno, Claudio;
Andreu, Antonio L.;
Cervera, Carlos;
Navarro, Carmen;
Schwartz, Simon;
Dimauro, Salvatore;
Gamez, J;
Fernandez, R;
Bruno, C;
Andreu, A L;
Cervera, C;
Navarro, C;
Schwartz, S;
Dimauro, S

Publication type:

journal article

Deficiency of hyccin, a newly identified membrane protein, causes hypomyelination and congenital cataract.

Published in:

Nature Genetics, 2006, v. 38, n. 10, p. 1111, doi. 10.1038/ng1870

By:

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

Publication type:

Article

Neonatal Diabetes and DQB 1 Typing.

Published in:

Diabetes Care, 1996, v. 19, n. 11, p. 1308, doi. 10.2337/diacare.19.11.1308a

By:

Mazzella, Massino;
Cotellessa, Mario;
Bonacci, Wanda;
Bruno, Claudio;
Serra, Giovanni

Publication type:

Article

Bone age assessment with conventional ultrasonography in healthy infants from 1 to 24 months of age.

Published in:

Pediatric Radiology, 2015, v. 45, n. 7, p. 1007, doi. 10.1007/s00247-014-3253-0

By:

Daneff, Monica;
Casalis, Claudia;
Bruno, Claudio;
Bruno, Didier

Publication type:

Article

ESTUDO SOBRE OS IMPACTOS DO RUÍDO NA SAÚDE DOS TRABALHADORES NO SETOR DA CONSTRUÇÃO CIVIL.

Published in:

Revista Científica Intellectus, 2022, v. 66, n. 1, p. 81

By:

BARBIN BAZEIO, LETÍCIA;
RAFAEL CLAUDIO, BRUNO;
CRISTINA COLISSE, MAYARA;
LUCIO GALLO, EMERSON;
SANDRINI DIAS, LUCIANE

Publication type:

Article

Myopathologic trajectory in Duchenne muscular dystrophy (DMD) reveals lack of regeneration due to senescence in satellite cells.

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Acta Neuropathologica Communications, 2023, v. 11, n. 1, p. 1, doi. 10.1186/s40478-023-01657-z

By:

Cardone, Nastasia;
Taglietti, Valentina;
Baratto, Serena;
Kefi, Kaouthar;
Periou, Baptiste;
Gitiaux, Ciryl;
Barnerias, Christine;
Lafuste, Peggy;
Pharm, France Leturcq;
Pharm, Juliette Nectoux;
Panicucci, Chiara;
Desguerre, Isabelle;
Bruno, Claudio;
Authier, François-Jerome;
Fiorillo, Chiara;
Relaix, Frederic;
Malfatti, Edoardo

Publication type:

Article