Scola RH

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Title : Recessive variants of MuSK are associated with late onset CMS and predominant limb girdle weakness - Owen_2018_Am.J.Med.Genet.A_176_1594
Author(s) : Owen D , Topf A , Preethish-Kumar V , Lorenzoni PJ , Vroling B , Scola RH , Dias-Tosta E , Geraldo A , Polavarapu K , Nashi S , Cox D , Evangelista T , Dawson J , Thompson R , Senderek J , Laurie S , Beltran S , Gut M , Gut I , Nalini A , Lochmuller H
Ref : American Journal of Medicine Genet A , 176 :1594 , 2018
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PubMedSearch : Owen_2018_Am.J.Med.Genet.A_176_1594
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Title : Congenital myasthenic syndrome: a brief review - Lorenzoni_2012_Pediatr.Neurol_46_141
Author(s) : Lorenzoni PJ , Scola RH , Kay CS , Werneck LC
Ref : Pediatr Neurol , 46 :141 , 2012
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PubMedSearch : Lorenzoni_2012_Pediatr.Neurol_46_141
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