Isabelle Nelson

A Missense Mutation of Cytochrome Oxidase Subunit II Causes Defective Assembly and Myopathy

Shamima Rahman, Jan‐Willem Taanman, Jonathan M. Cooper et al. · The American Journal of Human Genetics · 1999 · 139 citations · Full text

Life Sciences, Genetics, Molecular Genetics +12

Cytochrome c Oxidase Deficiency Associated with the First Stop-Codon Point Mutation in Human mtDNA

Michael G. Hanna, Isabelle Nelson, Shamima Rahman et al. · The American Journal of Human Genetics · 1998 · 131 citations · Full text

Life Sciences, Genetics, Molecular Genetics +9

SPG3A is the most frequent cause of hereditary spastic paraplegia with onset before age 10 years

Michito Namekawa, Isabelle Nelson, Sylvie Forlani et al. · Neurology · 2006 · 119 citations

Life Sciences, Genetics, Neurology +10

The mitochondrial DNA G13513A transition in ND5 is associated with a LHON/MELAS overlap syndrome and may be a frequent cause of MELAS

Teeratorn Pulkes, L. H. Eunson, Victor Patterson et al. · Annals of Neurology · 1999 · 118 citations

Life Sciences, Genetics, Neurology +17

Solve-RD: systematic pan-European data sharing and collaborative analysis to solve rare diseases

Birte Zurek, Kornelia Ellwanger, Lisenka E.L.M. Vissers et al. · European Journal of Human Genetics · 2021 · 103 citations · Full text

Life Sciences, Bioinformatics, Biomedical Informatics +15