Concepedia
Statistics
Publications
11
Citations
531
H-Index
Active since
2009
Affiliations
Inserm(Current)
Université d'Angers
Centre Hospitalier Universitaire d'Angers
Centre National de la Recherche Scientifique
Clinique Jules Verne
Xavier Zanlonghi is an author at Inserm specializing in genetics, life sciences, and inherited optic neuropathies.
Publications per year
2009–2022
Molecular screening of 980 cases of suspected hereditary optic neuropathy with a report on 77 novel <i>OPA1</i> mutations
Marc Ferré, Dominique Bonneau, Dan Miléa et al. · Human Mutation · 2009 · 164 citations · Full text
Medicine, Genetics, Molecular Genetics +17
OPA1: 516 unique variants and 831 patients registered in an updated centralized Variome database
Bastien Le Roux, Guy Lenaers, Xavier Zanlonghi et al. · Orphanet Journal of Rare Diseases · 2019 · 60 citations · Full text
Life Sciences, Genetics, Ophthalmology +17
Compound heterozygosity for severe and hypomorphic <i>NDUFS2</i> mutations cause non-syndromic LHON-like optic neuropathy
S. Gerber, Martina G. Ding, Xavier Gérard et al. · Journal of Medical Genetics · 2016 · 58 citations
Life Sciences, Genetics, Molecular Genetics +17
Mutations in the m-AAA proteases AFG3L2 and SPG7 are causing isolated dominant optic atrophy
Majida Charif, Arnaud Chevrollier, Naïg Guéguen et al. · Neurology Genetics · 2020 · 52 citations · Full text
Life Sciences, Genetics, Neurology +17
The top 10 most frequently involved genes in hereditary optic neuropathies in 2186 probands
Aude Rocatcher, Valérie Desquiret‐Dumas, Majida Charif et al. · Brain · 2022 · 43 citations · Full text
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