İbrahim Öncel

Safety and efficacy of risdiplam in patients with type 1 spinal muscular atrophy (FIREFISH part 2): secondary analyses from an open-label trial

Riccardo Masson, Maria Mazurkiewicz-Bełdzińska, Kristy Rose et al. · The Lancet Neurology · 2022 · 104 citations · Full text

Medicine, Neurology, Pharmacotherapy +6

Mutation in TOR1AIP1 encoding LAP1B in a form of muscular dystrophy: A novel gene related to nuclear envelopathies

Gulsum Kayman-Kurekci, Beril Talim, Petek Korkusuz et al. · Neuromuscular Disorders · 2014 · 81 citations · Full text

Medicine, Genetics, Molecular Genetics +13

ATP8A2-related disorders as recessive cerebellar ataxia

Claire Guissart, Alexander N. Harrison, Mehdi Benkirane et al. · Journal of Neurology · 2019 · 28 citations

Life Sciences, Genetics, Molecular Genetics +14

Genes for spinocerebellar ataxia with blindness and deafness (SCABD/SCAR3, MIM# 271250 and SCABD2)

Claire Guissart, Nathalie Drouot, İbrahim Öncel et al. · European Journal of Human Genetics · 2015 · 16 citations · Full text

Life Sciences, Genetics, Molecular Genetics +12

Genetic and phenotypic features of patients with childhood ataxias diagnosed by next-generation sequencing gene panel

Elif Acar Arslan, İbrahim Öncel, Ahmet Cevdet Ceylan et al. · Brain and Development · 2019 · 15 citations

Life Sciences, Genetics, Molecular Genetics +16