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References (7)

Title : MuSK-Associated Myasthenia Gravis: Clinical Features and Management - Rodolico_2020_Front.Neurol_11_660
Author(s) : Rodolico C , Bonanno C , Toscano A , Vita G
Ref : Front Neurol , 11 :660 , 2020
Abstract : Rodolico_2020_Front.Neurol_11_660
ESTHER : Rodolico_2020_Front.Neurol_11_660
PubMedSearch : Rodolico_2020_Front.Neurol_11_660
PubMedID: 32793097

Title : Severe congenital myasthenic syndrome associated with novel biallelic mutation of the CHRND gene - Bonanno_2020_Neuromuscul.Disord__
Author(s) : Bonanno C , Rodolico C , Topf A , Foti FM , Liu WW , Beeson D , Toscano A , Lochmuller H
Ref : Neuromuscular Disorders , : , 2020
Abstract : Bonanno_2020_Neuromuscul.Disord__
ESTHER : Bonanno_2020_Neuromuscul.Disord__
PubMedSearch : Bonanno_2020_Neuromuscul.Disord__
PubMedID: 32360402

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
Abstract : Garibaldi_2017_J.Neurol_264_1334
ESTHER : Garibaldi_2017_J.Neurol_264_1334
PubMedSearch : Garibaldi_2017_J.Neurol_264_1334
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
Abstract : Pennisi_2017_Orphanet.J.Rare.Dis_12_90
ESTHER : Pennisi_2017_Orphanet.J.Rare.Dis_12_90
PubMedSearch : Pennisi_2017_Orphanet.J.Rare.Dis_12_90
PubMedID: 28499397

Title : Immune-mediated rippling muscle disease with myasthenia gravis: a report of seven patients with long-term follow-up in two - Schoser_2009_Neuromuscul.Disord_19_223
Author(s) : Schoser B , Jacob S , Hilton-Jones D , Muller-Felber W , Kubisch C , Claus D , Goebel HH , Vita G , Vincent A , Toscano A , Van den Bergh P
Ref : Neuromuscular Disorders , 19 :223 , 2009
Abstract : Schoser_2009_Neuromuscul.Disord_19_223
ESTHER : Schoser_2009_Neuromuscul.Disord_19_223
PubMedSearch : Schoser_2009_Neuromuscul.Disord_19_223
PubMedID: 19208478

Title : Opposed-phase MR imaging of lipid storage myopathy in a case of Chanarin-Dorfman disease - Gaeta_2008_Skeletal.Radiol_37_1053
Author(s) : Gaeta M , Minutoli F , Toscano A , Celona A , Musumeci O , Racchiusa S , Mazziotti S
Ref : Skeletal Radiol , 37 :1053 , 2008
Abstract : Gaeta_2008_Skeletal.Radiol_37_1053
ESTHER : Gaeta_2008_Skeletal.Radiol_37_1053
PubMedSearch : Gaeta_2008_Skeletal.Radiol_37_1053
PubMedID: 18682927
Gene_locus related to this paper: human-ABHD5

Title : Limb-girdle myasthenia: clinical, electrophysiological and morphological features in familial and autoimmune cases - Rodolico_2002_Neuromuscul.Disord_12_964
Author(s) : Rodolico C , Toscano A , Autunno M , Messina S , Nicolosi C , Aguennouz M , Laura M , Girlanda P , Messina C , Vita G
Ref : Neuromuscular Disorders , 12 :964 , 2002
Abstract : Rodolico_2002_Neuromuscul.Disord_12_964
ESTHER : Rodolico_2002_Neuromuscul.Disord_12_964
PubMedSearch : Rodolico_2002_Neuromuscul.Disord_12_964
PubMedID: 12467753