Yo‐Tsen Liu

Charcot–Marie–Tooth disease: frequency of genetic subtypes and guidelines for genetic testing

Sinéad M. Murphy, Matilde Laurá, Katherine A. Fawcett et al. · Journal of Neurology Neurosurgery & Psychiatry · 2012 · 372 citations

Life Sciences, Genetics, Molecular Genetics +17

Exome sequencing identifies a significant variant in methionyl-tRNA synthetase (<i>MARS</i>) in a family with late-onset CMT2

Michael Gonzalez, Heather M. McLaughlin, Henry Houlden et al. · Journal of Neurology Neurosurgery & Psychiatry · 2013 · 127 citations · Full text

Life Sciences, Genetics, Molecular Genetics +14

Characterization of CADASIL among the Han Chinese in Taiwan: Distinct Genotypic and Phenotypic Profiles

Yi‐Chu Liao, Cheng-Tsung Hsiao, Jong‐Ling Fuh et al. · PLoS ONE · 2015 · 114 citations · Full text

Life Sciences, Genetics, Molecular Genetics +12

<i>PDXK</i> mutations cause polyneuropathy responsive to pyridoxal 5′‐phosphate supplementation

Viorica Chelban, Matthew P. Wilson, Jodi Warman‐Chardon et al. · Annals of Neurology · 2019 · 75 citations · Full text

Life Sciences, Genetics, Neurology +17

<i>PRRT2</i> mutations lead to neuronal dysfunction and neurodevelopmental defects

Yo‐Tsen Liu, Fang‐Shin Nian, Wan-Ju Chou et al. · Oncotarget · 2016 · 64 citations · Full text

Life Sciences, Genetics, Neuroscience +14