Haluk Topaloğlu

Nusinersen versus Sham Control in Infantile-Onset Spinal Muscular Atrophy

Richard S. Finkel, Eugenio Mercuri, Basil T. Darras et al. · New England Journal of Medicine · 2017 · 2.3K citations · Full text

Medicine, Genetics, Neurology +17

The TREAT-NMD DMD Global Database: Analysis of More than 7,000 Duchenne Muscular Dystrophy Mutations

Catherine L. Bladen, David Salgado, Soledad Monges et al. · Human Mutation · 2015 · 744 citations · Full text

Life Sciences, Genetics, Molecular Genetics +15

Muscular Dystrophy and Neuronal Migration Disorder Caused by Mutations in a Glycosyltransferase, POMGnT1

Aruto Yoshida, Kazuhiro Kobayashi, Hiroshi Manya et al. · Developmental Cell · 2001 · 710 citations · Full text

Life Sciences, Genetics, Molecular Genetics +14

Mutations in the laminin α2–chain gene (LAMA2) cause merosin–deficient congenital muscular dystrophy

A. Leclerc, Xu Zhang, Haluk Topaloğlu et al. · Nature Genetics · 1995 · 628 citations

Life Sciences, Genetics, Molecular Genetics +9

Nusinersen initiated in infants during the presymptomatic stage of spinal muscular atrophy: Interim efficacy and safety results from the Phase 2 NURTURE study

Darryl C. De Vivo, Enrico Bertini, Kathryn J. Swoboda et al. · Neuromuscular Disorders · 2019 · 626 citations · Full text

Medicine, Neurology, Pediatrics +10