Bruno C

References (7)

Title : Muscle MRI in neutral lipid storage disease (NLSD) - Garibaldi_2017_J.Neurol_264_1334
Author(s) : Garibaldi M , Tasca G , Diaz-Manera J , Ottaviani P , Laschena F , Pantoli D , Gerevini S , Fiorillo C , Maggi L , Tasca E , D'Amico A , Musumeci O , Toscano A , Bruno C , Massa R , Angelini C , Bertini E , Antonini G , Pennisi EM
Ref : Journal of Neurology , 264 :1334 , 2017
PubMedID: 28503705

Title : Neutral Lipid Storage Diseases: clinical\/genetic features and natural history in a large cohort of Italian patients - Pennisi_2017_Orphanet.J.Rare.Dis_12_90
Author(s) : Pennisi EM , Arca M , Bertini E , Bruno C , Cassandrini D , D'Amico A , Garibaldi M , Gragnani F , Maggi L , Massa R , Missaglia S , Morandi L , Musumeci O , Pegoraro E , Rastelli E , Santorelli FM , Tasca E , Tavian D , Toscano A , Angelini C
Ref : Orphanet J Rare Dis , 12 :90 , 2017
PubMedID: 28499397

Title : Acitretin-responsive ichthyosis in Chanarin-Dorfman syndrome with a novel mutation in the ABHD5\/CGI-58 gene - Srinivasaraghavan_2014_Pediatr.Dermatol_31_612
Author(s) : Srinivasaraghavan R , Krishnamurthy S , Chandar R , Cassandrini D , Mahadevan S , Bruno C , Santorelli FM
Ref : Pediatr Dermatol , 31 :612 , 2014
PubMedID: 23756328
Gene_locus related to this paper: human-ABHD5

Title : Liver cirrhosis in an infant with Chanarin-Dorfman syndrome caused by a novel splice-site mutation in ABHD5 - Cakir_2010_Acta.Paediatr_99_1592
Author(s) : Cakir M , Bruno C , Cansu A , Cobanoglu U , Erduran E
Ref : Acta Paediatr , 99 :1592 , 2010
PubMedID: 20528790
Gene_locus related to this paper: human-ABHD5

Title : Clinical and genetic characterization of Chanarin-Dorfman syndrome. - Bruno_2008_Biochem.Biophys.Res.Commun_369_1125
Author(s) : Bruno C , Bertini E , Di Rocco M , Cassandrini D , Ruffa G , De Toni T , Seri M , Spada M , Li Volti G , D'Amico A , Trucco F , Arca M , Casali C , Angelini C , Dimauro S , Minetti C
Ref : Biochemical & Biophysical Research Communications , 369 :1125 , 2008
PubMedID: 18339307
Gene_locus related to this paper: human-ABHD5

Title : Novel mutations in the adipose triglyceride lipase gene causing neutral lipid storage disease with myopathy - Campagna_2008_Biochem.Biophys.Res.Commun_377_843
Author(s) : Campagna F , Nanni L , Quagliarini F , Pennisi E , Michailidis C , Pierelli F , Bruno C , Casali C , Dimauro S , Arca M
Ref : Biochemical & Biophysical Research Communications , 377 :843 , 2008
PubMedID: 18952067

Title : Automated dibucaine number measurement with DuPont Dimension ES and AR analyzers - Holownia_1995_Clin.Chem_41_664
Author(s) : Holownia P , Newman DJ , Bruno C , LaGamba P , Gerrits M , Salemink G , Ossani M , Price CP
Ref : Clinical Chemistry , 41 :664 , 1995
PubMedID: 7729043