D'Amico A

References (4)

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 : 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 : Clinical and molecular genetic findings in COLQ-mutant congenital myasthenic syndromes - Mihaylova_2008_Brain_131_747
Author(s) : Mihaylova V , Muller JS , Vilchez JJ , Salih MA , Kabiraj MM , D'Amico A , Bertini E , Wolfle J , Schreiner F , Kurlemann G , Rasic VM , Siskova D , Colomer J , Herczegfalvi A , Fabriciova K , Weschke B , Scola R , Hoellen F , Schara U , Abicht A , Lochmuller H
Ref : Brain , 131 :747 , 2008
PubMedID: 18180250