Ana Topf
AuthID: R-00H-J1M
1
TITLE: Recessive variants of MuSK are associated with late onset CMS and predominant limb girdle weakness Full Text
AUTHORS: David Owen; Ana Topf; Veeramani Preethish Kumar; Paulo Jose Lorenzoni; Bas Vroling; Rosana Herminia Scola; Elza Dias Tosta; Argemiro Geraldo; Kiran Polavarapu; Saraswati Nashi; Daniel Cox; Teresinha Evangelista; John Dawson; Rachel Thompson; Jan Senderek; Steven Laurie; Sergi Beltran; Marta Gut; Ivo Gut; Atchayaram Nalini; ...More
PUBLISHED: 2018, SOURCE: AMERICAN JOURNAL OF MEDICAL GENETICS PART A, VOLUME: 176, ISSUE: 7
AUTHORS: David Owen; Ana Topf; Veeramani Preethish Kumar; Paulo Jose Lorenzoni; Bas Vroling; Rosana Herminia Scola; Elza Dias Tosta; Argemiro Geraldo; Kiran Polavarapu; Saraswati Nashi; Daniel Cox; Teresinha Evangelista; John Dawson; Rachel Thompson; Jan Senderek; Steven Laurie; Sergi Beltran; Marta Gut; Ivo Gut; Atchayaram Nalini; ...More
PUBLISHED: 2018, SOURCE: AMERICAN JOURNAL OF MEDICAL GENETICS PART A, VOLUME: 176, ISSUE: 7
INDEXED IN: 
WOS
WOS2
TITLE: Intragenic DOK7 deletion detected by whole-genome sequencing in congenital myasthenic syndromes
AUTHORS: Yoshiteru Azuma; Ana Topf; Teresinha Evangelista; Paulo Jose Lorenzoni; Andreas Roos; Pedro Viana; Hidehito Inagaki; Hiroki Kurahashi; Hanns Lochmueller;
PUBLISHED: 2017, SOURCE: NEUROLOGY-GENETICS, VOLUME: 3, ISSUE: 3
AUTHORS: Yoshiteru Azuma; Ana Topf; Teresinha Evangelista; Paulo Jose Lorenzoni; Andreas Roos; Pedro Viana; Hidehito Inagaki; Hiroki Kurahashi; Hanns Lochmueller;
PUBLISHED: 2017, SOURCE: NEUROLOGY-GENETICS, VOLUME: 3, ISSUE: 3
INDEXED IN: 
Scopus WOS
Scopus WOS