Ying Hu

MRI in DNM2-related centronuclear myopathy: Evidence for highly selective muscle involvement

Joachim Schessl, Līvija Medne, Ying Hu et al. · Neuromuscular Disorders · 2006 · 72 citations

Medicine, Neurology, Radiology +12

P4HA1 mutations cause a unique congenital disorder of connective tissue involving tendon, bone, muscle and the eye

Yaqun Zou, Sandra Donkervoort, Antti M. Salo et al. · Human Molecular Genetics · 2017 · 58 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Novel De Novo Mutations in <i>KIF1A</i> as a Cause of Hereditary Spastic Paraplegia With Progressive Central Nervous System Involvement

Leslie Hotchkiss, Sandra Donkervoort, M. Leach et al. · Journal of Child Neurology · 2016 · 50 citations · Full text

Life Sciences, Genetics, Neurology +17

MSTO1 mutations cause mtDNA depletion, manifesting as muscular dystrophy with cerebellar involvement

Sandra Donkervoort, Rasha Sabouny, Pomi Yun et al. · Acta Neuropathologica · 2019 · 50 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Dominant collagen XII mutations cause a distal myopathy

Payam Mohassel, Teerin Liewluck, Ying Hu et al. · Annals of Clinical and Translational Neurology · 2019 · 33 citations · Full text

Medicine, Genetics, Molecular Genetics +16