Sylvia Cherninkova

Axonal neuropathy with optic atrophy is caused by mutations in mitofusin 2

Stephan Züchner, Peter De Jonghe, Albena Jordanova et al. · Annals of Neurology · 2006 · 360 citations

Life Sciences, Genetics, Neurology +17

Null Mutations in LTBP2 Cause Primary Congenital Glaucoma

Manir Ali, Martin McKibbin, Adam Booth et al. · The American Journal of Human Genetics · 2009 · 325 citations · Full text

Medicine, Genetics, Ophthalmology +12

Autosomal-Recessive Congenital Cerebellar Ataxia Is Caused by Mutations in Metabotropic Glutamate Receptor 1

Velina Guergueltcheva, Dimitar N. Azmanov, Dora Angelicheva et al. · The American Journal of Human Genetics · 2012 · 98 citations · Full text

Life Sciences, Genetics, Neurology +14

LTBP2 and CYP1B1 mutations and associated ocular phenotypes in the Roma/Gypsy founder population

Dimitar N. Azmanov, Laura V. Flórez, Sylvia Cherninkova et al. · European Journal of Human Genetics · 2010 · 66 citations · Full text

Life Sciences, Genetics, Ophthalmology +10

Therapeutic benefit of idebenone in patients with Leber hereditary optic neuropathy: The LEROS nonrandomized controlled trial

Patrick Yu‐Wai‐Man, Valério Carelli, Nancy J. Newman et al. · Cell Reports Medicine · 2024 · 48 citations · Full text

Medicine, Neurology, Pharmacotherapy +17