Inès Mademan

Defects of mutant DNMT1 are linked to a spectrum of neurological disorders

Jonathan Baets, Xiaohui Duan, Yanhong Wu et al. · Brain · 2015 · 117 citations · Full text

Sensory neuropathy with bone destruction due to a mutation in the membrane-shaping atlastin GTPase 3

Uwe Kornak, Inès Mademan, Marte Schinke et al. · Brain · 2014 · 105 citations · Full text

Peripheral Nerve Injury, Genetics, Atlastin Gtpase 3 +17

A recurrent WARS mutation is a novel cause of autosomal dominant distal hereditary motor neuropathy

Pei‐Chien Tsai, Bing‐Wen Soong, Inès Mademan et al. · Brain · 2017 · 96 citations · Full text

Exome Sequencing, Genetics, Genetic Epidemiology +19

Characterization of HNRNPA1 mutations defines diversity in pathogenic mechanisms and clinical presentation

Danique Beijer, Hong Joo Kim, Lin Guo et al. · JCI Insight · 2021 · 67 citations · Full text

Neurogenomics, Genetics, Clinical Presentation +21

De novo <i>INF2</i> mutations expand the genetic spectrum of hereditary neuropathy with glomerulopathy

Inès Mademan, Tine Deconinck, Argirios Dinopoulos et al. · Neurology · 2013 · 42 citations