1. Home
  2. Author
  3. Malfatti E

Malfatti E

References (2)

Title : Case Report: a novel PNPLA2 homozygous frameshift variant causing severe neutral lipid storage disease with myopathy (NLSDM) in a Moroccan patient - Faedo_2026_Front.Genet_17_1701218
Author(s) : Faedo E , Araujo Chumacero MM , Missaglia S , Lunati-Rozie A , Severa G , Onnee M , Das B , Martegani E , Lafage N , El Bejjani L , Barka I , Gobin-Limballe S , Badaoui B , Lefaucheur JP , Tavian D , Malfatti E
Ref : Front Genet , 17 :1701218 , 2026
Abstract :
PubMedSearch : Faedo_2026_Front.Genet_17_1701218
PubMedID: 42266408

Title : Case Report: A Novel AChR Epsilon Variant Causing a Clinically Discordant Salbutamol Responsive Congenital Myasthenic Syndrome in Two Egyptian Siblings - Gomez-Garcia_2022_Front.Neurol_13_909715
Author(s) : Gomez-Garcia de la Banda M , Simental-Aldaba E , Fahmy N , Sternberg D , Blondy P , Quijano-Roy S , Malfatti E
Ref : Front Neurol , 13 :909715 , 2022
Abstract :
PubMedSearch : Gomez-Garcia_2022_Front.Neurol_13_909715
PubMedID: 35720108