Κyriakos Martakis

Trial of <i>N</i> -Acetyl- <scp>l</scp> -Leucine in Niemann–Pick Disease Type C

Tatiana Brémovà-Ertl, Uma Ramaswami, Marion M. Brands et al. · New England Journal of Medicine · 2024 · 96 citations · Full text

Life Sciences, Biochemistry, Molecular Biology +11

Effect of nusinersen on motor, respiratory and bulbar function in early-onset spinal muscular atrophy

Astrid Pechmann, Max Behrens, Katharina Dörnbrack et al. · Brain · 2022 · 70 citations · Full text

Medicine, Neurology, Pediatrics +15

Efficacy and safety of N-acetyl-l-leucine in Niemann–Pick disease type C

Tatiana Brémovà-Ertl, Tomas Foltan, Jordi Gascón‐Bayarri et al. · Journal of Neurology · 2021 · 66 citations · Full text

Medicine, Pharmacology, Pharmacotherapy +15

Long-term efficacy and safety of nusinersen in adults with 5q spinal muscular atrophy: a prospective European multinational observational study

René Günther, Claudia D. Wurster, Svenja Brakemeier et al. · The Lancet Regional Health - Europe · 2024 · 61 citations · Full text

Medicine, Neurology, Pharmacotherapy +14

Improved upper limb function in non-ambulant children with SMA type 2 and 3 during nusinersen treatment: a prospective 3-years SMArtCARE registry study

Astrid Pechmann, Max Behrens, Katharina Dörnbrack et al. · Orphanet Journal of Rare Diseases · 2022 · 40 citations · Full text

Medicine, Neurology, Pediatrics +14