Sarah Neuhaus

Childhood amyotrophic lateral sclerosis caused by excess sphingolipid synthesis

Payam Mohassel, Sandra Donkervoort, Museer A. Lone et al. · Nature Medicine · 2021 · 152 citations · Full text

Life Sciences, Neurology, Neuroscience +14

Safety and efficacy of gene replacement therapy for X-linked myotubular myopathy (ASPIRO): a multinational, open-label, dose-escalation trial

Perry B. Shieh, Nancy L. Kuntz, Wolfgang Müller‐Felber et al. · The Lancet Neurology · 2023 · 120 citations · Full text

Medicine, Molecular Medicine, Pharmacotherapy +15

Four-dimensional trapped ion mobility spectrometry lipidomics for high throughput clinical profiling of human blood samples

Raissa Lerner, Dhanwin Baker, Claudia Schwitter et al. · Nature Communications · 2023 · 60 citations · Full text

Life Sciences, Biochemistry, Analytical Chemistry +15

An ancestral 10-bp repeat expansion in <i>VWA1</i> causes recessive hereditary motor neuropathy

Alistair T. Pagnamenta, Rauan Kaiyrzhanov, Yaqun Zou et al. · Brain · 2020 · 55 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

ACTN2 mutations cause “Multiple structured Core Disease” (MsCD)

Xavière Lornage, Norma B. Romero, Claire A Grosgogeat et al. · Acta Neuropathologica · 2019 · 52 citations

Life Sciences, Genetics, Molecular Genetics +8