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Natalie Keller

University of Cologne

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VPS13D : One Family, Same Mutations, Two Phenotypes

2021 Movement Disorders Clinical Practice
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De novo DNM1L variant presenting with severe muscular atrophy, dystonia and sensory neuropathy.

2021 European Journal of Medical Genetics
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P 27. VPS13D: One family, one mutation, two phenotypes

2021 Clinical Neurophysiology
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Hereditary polyneuropathy with optic atrophy due to PDXK variant leading to impaired Vitamin B6 metabolism

2020 Neuromuscular Disorders
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