Karen Krajewski

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

Charcot‐Marie‐Tooth disease and related neuropathies: Mutation distribution and genotype‐phenotype correlation

Cornelius F. Boerkoel, Hiroshi Takashima, Carlos García et al. · Annals of Neurology · 2001 · 279 citations

Medicine, Genetics, Neurology +17

Biallelic mutations in SORD cause a common and potentially treatable hereditary neuropathy with implications for diabetes

Andrea Cortese, Yi Zhu, Adriana Rebelo et al. · Nature Genetics · 2020 · 177 citations · Full text

Medicine, Genetics, Molecular Genetics +11

Transient central nervous system white matter abnormality in X‐linked Charcot‐Marie‐Tooth disease

Henry L. Paulson, James Garbern, Timothy F. Hoban et al. · Annals of Neurology · 2002 · 161 citations

Medicine, Neurology, Neuroscience +17

Mutations in PRPS1, Which Encodes the Phosphoribosyl Pyrophosphate Synthetase Enzyme Critical for Nucleotide Biosynthesis, Cause Hereditary Peripheral Neuropathy with Hearing Loss and Optic Neuropathy (CMTX5)

Hee‐Jin Kim, Kwang-Min Sohn, Michael E. Shy et al. · The American Journal of Human Genetics · 2007 · 155 citations · Full text

Life Sciences, Genetics, Molecular Genetics +13