Jonathan De Winter

Biallelic variants in HPDL cause pure and complicated hereditary spastic paraplegia.

A. Pagnamenta, Changlian Zhu, T. Strom, 2021, Brain : a journal of neurology.

PCYT2 mutations disrupting etherlipid biosynthesis: phenotypes converging on the CDP-ethanolamine pathway.

P. van Damme, W. Spileers, M. Synofzik, 2020, Brain : a journal of neurology.

RFC1 repeat expansions: A recurrent cause of sensory and autonomic neuropathy with cough and ataxia

S. Züchner, M. Synofzik, T. Stojkovic, 2022, European journal of neurology.

A Recurrent KPNA3 Missense Variant Causing Infantile Pure Spastic Paraplegia

S. Züchner, E. Ortibus, J. Baets, 2022, Annals of Neurology.

Twist exome capture allows for lower average sequence coverage in clinical exome sequencing

Pieter B. T. Neerincx, Spencer J. Gibson, Farid Yavari Dizjikan, 2023, Human Genomics.

De Novo and Dominantly Inherited SPTAN1 Mutations Cause Spastic Paraplegia and Cerebellar Ataxia

S. Klebe, S. Züchner, A. Durr, 2022, Movement disorders : official journal of the Movement Disorder Society.

Distinct features in adult polyglucosan body disease: a case series

T. Deconinck, J. Baets, S. Dekeyzer, 2022, Neuromuscular Disorders.