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Title : Late onset of neutral lipid storage disease due to novel PNPLA2 mutations causing total loss of lipase activity in a patient with myopathy and slight cardiac involvement - Missaglia_2017_Neuromuscul.Disord_27_481 |
Author(s) : Missaglia S , Maggi L , Mora M , Gibertini S , Blasevich F , Agostoni P , Moro L , Cassandrini D , Santorelli FM , Gerevini S , Tavian D |
Ref : Neuromuscular Disorders , 27 :481 , 2017 |
Abstract : Missaglia_2017_Neuromuscul.Disord_27_481 |
ESTHER : Missaglia_2017_Neuromuscul.Disord_27_481 |
PubMedSearch : Missaglia_2017_Neuromuscul.Disord_27_481 |
PubMedID: 28258942 |
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 |