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Claudio Bruno
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38
Minetti, Carlo
27
DiMauro, Salvatore
20
Shanske, Sara
18
Santorelli, Filippo
18
Bado, Massimo
17
Andreu, Antoni
16
Zara, Federico
14
Cassandrini, Denise
13
Pedemonte, Marina
12
Bertini, Enrico
11
Assereto, Stefania
10
Biancheri, Roberta
10
Cordone, Giuseppe
10
Lisanti, Michael
9
D'Amico, Adele
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All Publications
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2009: Messina S; Tortorella G; Concolino D; Spanò M; D'Amico A; Bruno C; Santorelli F M; Mercuri E; Bertini E
Congenital muscular dystrophy with defective alpha-dystroglycan, cerebellar hypoplasia, and epilepsy.
Neurology 2009;73(19):1599-601.
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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.
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2008: Carrozzo Rosalba; Bellini Carlo; Lucioli Simona; Deodato Federica; Cassandrini Denise; Cassanello Michela; Caruso Ubaldo; Rizzo Cristiano; Rizza Teresa; Napolitano Matteo L; Wanders Ronald J A; Jakobs Cornelis; Bruno Claudio; Santorelli Filippo M; Dionisi-Vici Carlo; Bonioli Eugenio
Peroxisomal acyl-CoA-oxidase deficiency: two new cases.
American journal of medical genetics. Part A 2008;146A(13):1676-81.
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2008: Messina S; Mora M; Pegoraro E; Pini A; Mongini T; D'Amico A; Pane M; Aiello C; Bruno C; Biancheri R; Berardinelli A; Boito C; Farina L; Morandi L; Moroni I; Pezzani R; Pichiecchio A; Ricci E; Ruggieri A; Saredi S; Scuderi C; Tessa A; Toscano A; Tortorella G; Trevisan C P; Uggetti C; Santorelli F M; Bertini E; Mercuri E
POMT1 and POMT2 mutations in CMD patients: a multicentric Italian study.
Neuromuscular disorders : NMD 2008;18(7):565-71.
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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.
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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.
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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.
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2007: Akman Hasan O; Sampayo James N; Ross Fiona A; Scott John W; Wilson Gregory; Benson Lee; Bruno Claudio; Shanske Sara; Hardie D Grahame; Dimauro Salvatore
Fatal infantile cardiac glycogenosis with phosphorylase kinase deficiency and a mutation in the gamma2-subunit of AMP-activated protein kinase.
Pediatric research 2007;62(4):499-504.
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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.
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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.
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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.
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2007: Tiziano F D; Bertini E; Messina S; Angelozzi C; Pane M; D'Amico A; Alfieri P; Fiori S; Battini R; Berardinelli A; Boffi P; Bruno C; Cini C; Minetti C; Mongini T; Morandi L; Orcesi S; Pelliccioni M; Pini A; Villanova M; Vita G; Locatelli M; Mercuri E; Brahe C
The Hammersmith functional score correlates with the SMN2 copy number: a multicentric study.
Neuromuscular disorders : NMD 2007;17(5):400-3.
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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.
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2007: Petruzzella Vittoria; Tessa Alessandra; Torraco Alessandra; Fattori Fabiana; Dotti Maria Teresa; Bruno Claudio; Cardaioli Elena; Papa Sergio; Federico Antonio; Santorelli Filippo M
The NDUFB11 gene is not a modifier in Leber hereditary optic neuropathy.
Biochemical and biophysical research communications 2007;355(1):181-7.
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2007: Striano Pasquale; Specchio Nicola; Biancheri Roberta; Cannelli Natalia; Simonati Alessandro; Cassandrini Denise; Rossi Andrea; Bruno Claudio; Fusco Lucia; Gaggero Roberto; Vigevano Federico; Bertini Enrico; Zara Federico; Santorelli Filippo M; Striano Salvatore
Clinical and electrophysiological features of epilepsy in Italian patients with CLN8 mutations.
Epilepsy & behavior : E&B 2007;10(1):187-91.
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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.
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2007: Mercuri E; Bertini E; Messina S; Solari A; D'Amico A; Angelozzi C; Battini R; Berardinelli A; Boffi P; Bruno C; Cini C; Colitto F; Kinali M; Minetti C; Mongini T; Morandi L; Neri G; Orcesi S; Pane M; Pelliccioni M; Pini A; Tiziano F D; Villanova M; Vita G; Brahe C
Randomized, double-blind, placebo-controlled trial of phenylbutyrate in spinal muscular atrophy.
Neurology 2007;68(1):51-5.
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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.
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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.
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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.
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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.
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2006: D'Amico A; Tessa A; Bruno C; Petrini S; Biancheri R; Pane M; Pedemonte M; Ricci E; Falace A; Rossi A; Mercuri E; Santorelli F M; Bertini E
Expanding the clinical spectrum of POMT1 phenotype.
Neurology 2006;66(10):1564-7; discussion 1461.
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2006: Cannelli Natalia; Cassandrini Denise; Bertini Enrico; Striano Pasquale; Fusco Lucia; Gaggero Roberto; Specchio Nicola; Biancheri Roberta; Vigevano Federico; Bruno Claudio; Simonati Alessandro; Zara Federico; Santorelli Filippo M
Novel mutations in CLN8 in Italian variant late infantile neuronal ceroid lipofuscinosis: Another genetic hit in the Mediterranean.
Neurogenetics 2006;7(2):111-7.
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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.
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2006: Mercuri E; Messina S; Battini R; Berardinelli A; Boffi P; Bono R; Bruno C; Carboni N; Cini C; Colitto F; D'Amico A; Minetti C; Mirabella M; Mongini T; Morandi L; Dlamini N; Orcesi S; Pelliccioni M; Pane M; Pini A; Swan A V; Villanova M; Vita G; Main M; Muntoni F; Bertini E
Reliability of the Hammersmith functional motor scale for spinal muscular atrophy in a multicentric study.
Neuromuscular disorders : NMD 2006;16(2):93-8.
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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.
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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.
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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.
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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.
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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.
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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.
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2004: Bruno Claudio; Minetti Carlo
Congenital myopathies.
Current neurology and neuroscience reports 2004;4(1):68-73.
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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.
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2003: Di Rocco M; Stella G; Bruno C; Doria Lamba L; Bado M; Superti-Furga A
Long-term survival in Stuve-Wiedemann syndrome: a neuro-myo-skeletal disorder with manifestations of dysautonomia.
American journal of medical genetics. Part A 2003;118A(4):362-8.
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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.
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2003: Siciliano G; Tessa A; Petrini S; Mancuso M; Bruno C; Grieco G S; Malandrini A; DeFlorio L; Martini B; Federico A; Nappi G; Santorelli F M; Murri L
Autosomal dominant external ophthalmoplegia and bipolar affective disorder associated with a mutation in the ANT1 gene.
Neuromuscular disorders : NMD 2003;13(2):162-5.
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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.
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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.
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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.
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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.
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2002: Dimaur S; Andreu A L; Bruno C; Hadjigeorgiou G M
Myophosphorylase deficiency (glycogenosis type V; McArdle disease).
Current molecular medicine 2002;2(2):189-96.
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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.
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2000: Shtilbans A; Shanske S; Goodman S; Sue C M; Bruno C; Johnson T L; Lava N S; Waheed N; DiMauro S
G8363A mutation in the mitochondrial DNA transfer ribonucleic acidLys gene: another cause of Leigh syndrome.
Journal of child neurology 2000;15(11):759-61.
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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.
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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.
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2000: Bruno C; Bertini E; Santorelli F M; DiMauro S
HyperCKemia as the only sign of McArdle's disease in a child.
Journal of child neurology 2000;15(2):137-8.
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2000: Fernández R; Navarro C; Andreu A L; Bruno C; Shanske S; Gámez J; Teijeira S; Hernández I; Teijeiro A; Fernández J M; Musumeci O; DiMauro S
A novel missense mutation (W797R) in the myophosphorylase gene in Spanish patients with McArdle disease.
Archives of neurology 2000;57(2):217-9.
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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.
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1999: Hadjigeorgiou G M; Kawashima N; Bruno C; Andreu A L; Sue C M; Rigden D J; Kawashima A; Shanske S; DiMauro S
Manifesting heterozygotes in a Japanese family with a novel mutation in the muscle-specific phosphoglycerate mutase (PGAM-M) gene.
Neuromuscular disorders : NMD 1999;9(6-7):399-402.
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1999: Andreu A L; Hanna M G; Reichmann H; Bruno C; Penn A S; Tanji K; Pallotti F; Iwata S; Bonilla E; Lach B; Morgan-Hughes J; DiMauro S
Exercise intolerance due to mutations in the cytochrome b gene of mitochondrial DNA.
The New England journal of medicine 1999;341(14):1037-44.
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1999: Bruno C; Martinuzzi A; Tang Y; Andreu A L; Pallotti F; Bonilla E; Shanske S; Fu J; Sue C M; Angelini C; DiMauro S; Manfredi G
A stop-codon mutation in the human mtDNA cytochrome c oxidase I gene disrupts the functional structure of complex IV.
American journal of human genetics 1999;65(3):611-20.
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1999: Gamez J; Fernandez R; Bruno C; Andreu A L; Cervera C; Navarro C; Schwartz S; Dimauro S
A new mutation in the regulatory domain of the myophosphorylase gene affecting protein dimer contact.
Muscle & nerve 1999;22(8):1136-8.
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1999: Bruno C; Löfberg M; Tamburino L; Jänkälä H; Hadjigeorgiou G M; Andreu A L; Shanske S; Somer H; DiMauro S
Molecular characterization of McArdle's disease in two large Finnish families.
Journal of the neurological sciences 1999;165(2):121-5.
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1999: Sue C M; Tanji K; Hadjigeorgiou G; Andreu A L; Nishino I; Krishna S; Bruno C; Hirano M; Shanske S; Bonilla E; Fischel-Ghodsian N; DiMauro S; Friedman R
Maternally inherited hearing loss in a large kindred with a novel T7511C mutation in the mitochondrial DNA tRNA(Ser(UCN)) gene.
Neurology 1999;52(9):1905-8.
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1999: Andreu A L; Tanji K; Bruno C; Hadjigeorgiou G M; Sue C M; Jay C; Ohnishi T; Shanske S; Bonilla E; DiMauro S
Exercise intolerance due to a nonsense mutation in the mtDNA ND4 gene.
Annals of neurology 1999;45(6):820-3.
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1999: Andreu A L; Bruno C; Tamburino L; Gamez J; Shanske S; Cervera C; Navarro C; DiMauro S
A new mutation in the myophosphorylase gene (Asn684Tyr) in a Spanish patient with McArdle's disease.
Neuromuscular disorders : NMD 1999;9(3):171-3.
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1999: Andreu A L; Bruno C; Hadjigeorgiou G M; Shanske S; DiMauro S
Polymorphic variants in the human mitochondrial cytochrome b gene.
Molecular genetics and metabolism 1999;67(1):49-52.
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1999: Bruno C; Tamburino L; Kawashima N; Andreu A L; Shanske S; Hadjigeorgiou G M; Kawashima A; DiMauro S
A nonsense mutation in the myophosphorylase gene in a Japanese family with McArdle's disease.
Neuromuscular disorders : NMD 1999;9(1):34-7.
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1999: Andreu A L; Bruno C; Dunne T C; Tanji K; Shanske S; Sue C M; Krishna S; Hadjigeorgiou G M; Shtilbans A; Bonilla E; DiMauro S
A nonsense mutation (G15059A) in the cytochrome b gene in a patient with exercise intolerance and myoglobinuria.
Annals of neurology 1999;45(1):127-30.
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1998: Andreu A L; Bruno C; Shanske S; Shtilbans A; Hirano M; Krishna S; Hayward L; Systrom D S; Brown R H; DiMauro S
Missense mutation in the mtDNA cytochrome b gene in a patient with myopathy.
Neurology 1998;51(5):1444-7.
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1998: DiMauro S; Bruno C
Glycogen storage diseases of muscle.
Current opinion in neurology 1998;11(5):477-84.
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1998: Gospe S M; El-Schahawi M; Shanske S; Bruno C; DiMauro S; Hoye E; Walsh D A; Gorin F A
Asymptomatic McArdle's disease associated with hyper-creatine kinase-emia and absence of myophosphorylase.
Neurology 1998;51(4):1228-9.
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1998: Bruno C; Manfredi G; Andreu A L; Shanske S; Krishna S; Ilse W K; DiMauro S
A splice junction mutation in the alpha(M) gene of phosphorylase kinase in a patient with myopathy.
Biochemical and biophysical research communications 1998;249(3):648-51.
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1998: Andreu A L; Bruno C; Gamez J; Shanske S; Cervera C; Navarro C; Arbos M A; Tamburino L; Schwartz S; DiMauro S
Molecular genetic analysis of McArdle's disease in Spanish patients.
Neurology 1998;51(1):260-2.
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1998: Gámez J; Playán A; Andreu A L; Bruno C; Navarro C; Cervera C; Arbós M A; Schwartz S; Enriquez J A; Montoya J
Familial multiple symmetric lipomatosis associated with the A8344G mutation of mitochondrial DNA.
Neurology 1998;51(1):258-60.
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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.
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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.
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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.
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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.
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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.
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1997: el-Schahawi M; Bruno C; Tsujino S; Sarrazin A M; Shanske S; LeRoux M G; DiMauro S
Sudden infant death syndrome (SIDS) in a family with myophosphorylase deficiency.
Neuromuscular disorders : NMD 1997;7(2):81-3.
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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.
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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.
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