| Title : The phenotypic spectrum of neutral lipid storage myopathy due to mutations in the PNPLA2 gene - Reilich_2011_J.Neurol_258_1987 |
| Author(s) : Reilich P , Horvath R , Krause S , Schramm N , Turnbull DM , Trenell M , Hollingsworth KG , Gorman GS , Hans VH , Reimann J , MacMillan A , Turner L , Schollen A , Witte G , Czermin B , Holinski-Feder E , Walter MC , Schoser B , Lochmuller H |
| Ref : Journal of Neurology , 258 :1987 , 2011 |
| Abstract : |
| PubMedSearch : Reilich_2011_J.Neurol_258_1987 |
| PubMedID: 21544567 |
| Title : The phenotypic spectrum of neutral lipid storage myopathy due to mutations in the PNPLA2 gene - Reilich_2011_J.Neurol_258_1987 |
| Author(s) : Reilich P , Horvath R , Krause S , Schramm N , Turnbull DM , Trenell M , Hollingsworth KG , Gorman GS , Hans VH , Reimann J , MacMillan A , Turner L , Schollen A , Witte G , Czermin B , Holinski-Feder E , Walter MC , Schoser B , Lochmuller H |
| Ref : Journal of Neurology , 258 :1987 , 2011 |
| Abstract : |
| PubMedSearch : Reilich_2011_J.Neurol_258_1987 |
| PubMedID: 21544567 |
| Title : The phenotypic spectrum of neutral lipid storage myopathy due to mutations in the PNPLA2 gene - Reilich_2011_J.Neurol_258_1987 |
| Author(s) : Reilich P , Horvath R , Krause S , Schramm N , Turnbull DM , Trenell M , Hollingsworth KG , Gorman GS , Hans VH , Reimann J , MacMillan A , Turner L , Schollen A , Witte G , Czermin B , Holinski-Feder E , Walter MC , Schoser B , Lochmuller H |
| Ref : Journal of Neurology , 258 :1987 , 2011 |
| Abstract : |
| PubMedSearch : Reilich_2011_J.Neurol_258_1987 |
| PubMedID: 21544567 |
| Title : Novel COLQ mutation 950delC in synaptic congenital myasthenic syndrome and symptomatic heterozygous relatives - Schreiner_2007_Neuromuscul.Disord_17_262 |
| Author(s) : Schreiner F , Hoppenz M , Klaeren R , Reimann J , Woelfle J |
| Ref : Neuromuscular Disorders , 17 :262 , 2007 |
| Abstract : |
| PubMedSearch : Schreiner_2007_Neuromuscul.Disord_17_262 |
| PubMedID: 17300939 |
| Title : Novel COLQ mutation 950delC in synaptic congenital myasthenic syndrome and symptomatic heterozygous relatives - Schreiner_2007_Neuromuscul.Disord_17_262 |
| Author(s) : Schreiner F , Hoppenz M , Klaeren R , Reimann J , Woelfle J |
| Ref : Neuromuscular Disorders , 17 :262 , 2007 |
| Abstract : |
| PubMedSearch : Schreiner_2007_Neuromuscul.Disord_17_262 |
| PubMedID: 17300939 |
| Title : Novel COLQ mutation 950delC in synaptic congenital myasthenic syndrome and symptomatic heterozygous relatives - Schreiner_2007_Neuromuscul.Disord_17_262 |
| Author(s) : Schreiner F , Hoppenz M , Klaeren R , Reimann J , Woelfle J |
| Ref : Neuromuscular Disorders , 17 :262 , 2007 |
| Abstract : |
| PubMedSearch : Schreiner_2007_Neuromuscul.Disord_17_262 |
| PubMedID: 17300939 |