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Mobile devices: Opportunities for users with special needsBERTINI, Enrico; KIMANI, Stephen.Lecture notes in computer science. 2003, pp 486-491, issn 0302-9743, isbn 3-540-40821-5, 6 p.Conference Paper

Quality metrics for 2D scatterplot graphics: Automatically reducing visual clutterBERTINI, Enrico; SANTUCCI, Giuseppe.Lecture notes in computer science. 2004, pp 77-89, issn 0302-9743, isbn 3-540-21977-3, 13 p.Conference Paper

Pontocerebellar hypoplasia type 6 caused by mutations in RARS2: definition of the clinical spectrum and molecular findings in five patientsCASSANDRINI, Denise; CILIO, Maria Roberta; TOZZI, Giulia et al.Journal of inherited metabolic disease. 2013, Vol 36, Num 1, pp 43-53, issn 0141-8955, 11 p.Article

X-Linked Congenital Ataxia : A New Locus Maps to Xq25-q27.1ZANNI, Ginevra; BERTINI, Enrico; BELLCROSS, Cecelia et al.American journal of medical genetics. Part A. 2008, Vol 146, Num 5, pp 593-600, issn 1552-4825, 8 p.Article

SUCLA2 mutations are associated with mild methylmalonic aciduria, Leigh-like encephalomyopathy, dystonia and deafness. CommentaryCHINNERY, Patrick F; CARROZZO, Rosalba; MESCHINI, Maria Chiara et al.Brain. 2007, Vol 130, issn 0006-8950, 606-609,862-874 [17 p.], 3Article

Characterization of recessive RYR1 mutations in core myopathiesHAIYAN ZHOU; YAMAGUCHI, Naohiro; TREVES, Susan et al.Human molecular genetics (Print). 2006, Vol 15, Num 18, pp 2791-2803, issn 0964-6906, 13 p.Article

Mutations in genes encoding ribonuclease H2 subunits cause Aicardi-Goutières syndrome and mimic congenital viral brain infectionCROW, Yanick J; LEITCH, Andrea; BAUMANN, Clarisse et al.Nature genetics. 2006, Vol 38, Num 8, pp 910-916, issn 1061-4036, 7 p.Article

Genomic rearrangements at the IGHMBP2 gene locus in two patients with SMARD1GUENTHER, Ulf P; SCHUELKE, Markus; BERTINI, Enrico et al.Human genetics. 2004, Vol 115, Num 4, pp 319-326, issn 0340-6717, 8 p.Article

Infantile Alexander disease : Spectrum of GFAP mutations and genotype-phenotype correlationRODRIGUEZ, Diana; GAUTHIER, Fernande; HERNANDORENA, Xavier et al.American journal of human genetics. 2001, Vol 69, Num 5, pp 1134-1140, issn 0002-9297Article

Multi-minicore disease-searching for boundaries: Phenotype analysis of 38 casesFERREIRO, Ana; ESTOURNET, Brigitte; HAENGGELI, Charles-Antoine et al.Annals of neurology. 2000, Vol 48, Num 5, pp 745-757, issn 0364-5134Article

Pierre Robin syndrome and Wilms tumor : An unusual associationDIOMEDI CAMASSEI, Francesca; JENKNER, Alessandro; BERTINI, Enrico et al.Medical and pediatric oncology. 2000, Vol 35, Num 1, pp 83-84, issn 0098-1532Article

Cerebellar hypoplasia and brainstem thinning associated with severe white matter and basal ganglia abnormalities in a child with an mtDNA deletionBIANCHERI, Roberta; BRUNO, Claudio; CASSANDRINI, Denise et al.Journal of inherited metabolic disease. 2011, Vol 34, Num 6, pp 1225-1227, issn 0141-8955, 3 p.Article

Determination of superoxide dismutase and glutathione peroxidase activities in blood of healthy pediatric subjectsGAETA, Laura Maria; TOZZI, Giulia; PASTORE, Anna et al.Clinica chimica acta. 2002, Vol 322, Num 1-2, pp 117-120, issn 0009-8981Article

Motor function-muscle strength relationship in spinal muscular atrophyMERLINI, Luciano; BERTINI, Enrico; MINETTI, Carlo et al.Muscle & nerve. 2004, Vol 29, Num 4, pp 548-552, issn 0148-639X, 5 p.Article

Reducing infovis cluttering through non uniform sampling, displacement, and user perceptionBERTINI, Enrico; DELL'AQUILA, Luigi; SANTUCCI, Giuseppe et al.Proceedings of SPIE, the International Society for Optical Engineering. 2006, pp 60600L.1-60600L.12, issn 0277-786X, isbn 0-8194-6100-8, 1VolConference Paper

Cardiomyopathy in patients with POMT1-related congenital and limb-girdle muscular dystrophyBELLO, Luca; MELACINI, Paola; GAVASSINI, Bruno F et al.European journal of human genetics. 2012, Vol 20, Num 12, pp 1234-1239, issn 1018-4813, 6 p.Article

DPM2-CDG: A Muscular Dystrophy: Dystroglycanopathy Syndrome with Severe EpilepsyBARONE, Rita; AIELLO, Chiara; VLEUGELS, Wendy et al.Annals of neurology. 2012, Vol 72, Num 4, pp 550-558, issn 0364-5134, 9 p.Article

Iron-Related MRI Images in Patients with Pantothenate Kinase―Associated Neurodegeneration (PKAN) Treated with Deferiprone: Results of a Phase II Pilot TrialZORZI, Giovanna; ZIBORDI, Federica; SOLARI, Alessandra et al.Movement disorders. 2011, Vol 26, Num 9, pp 1756-1759, issn 0885-3185, 4 p.Article

Progressive cavitating leukoencephalopathy associated with respiratory chain complex I deficiency and a novel mutation in NDUFS1FERREIRA, Mariana; TORRACO, Alessandra; DIONISI-VICI, Carlo et al.Neurogenetics (Oxford. Print). 2011, Vol 12, Num 1, pp 9-17, issn 1364-6745, 9 p.Article

A new locus on 3p23-p25 for an autosomal-dominant limb-girdle muscular dystrophy, LGMD1HBISCEGLIA, Luigi; ZOCCOLELLA, Stefano; SERLENGA, Luigi et al.European journal of human genetics. 2010, Vol 18, Num 6, pp 636-641, issn 1018-4813, 6 p.Article

SMN transcript levels in leukocytes of SMA patients determined by absolute real-time PCRDANILO TIZIANO, Francesco; PINTO, Anna Maria; BERTINI, Enrico et al.European journal of human genetics. 2010, Vol 18, Num 1, pp 52-58, issn 1018-4813, 7 p.Article

AHI1 gene mutations cause specific forms of joubert syndrome-related disordersVALENTE, Enza Maria; BRANCATI, Francesco; ABDEL-SALAM, Ghada M. H et al.Annals of neurology. 2006, Vol 59, Num 3, pp 527-534, issn 0364-5134, 8 p.Article

Distinguishing the four genetic causes of jouberts syndrome-related disordersVALENTE, Enza Maria; MARSH, Sarah E; AL-TAWARI, Asma A et al.Annals of neurology. 2005, Vol 57, Num 4, pp 513-519, issn 0364-5134, 7 p.Article

Dominant and recessive COL6A1 mutations in ullrich scleroatonic muscular dystrophyGIUSTI, Betti; LUCARINI, Laura; ROELENS, Filip et al.Annals of neurology. 2005, Vol 58, Num 3, pp 400-410, issn 0364-5134, 11 p.Article