Publications by authors named "Jonathan de Winter"

Claim this Profile
E
Expanding the Genetic and Phenotypic Spectrum of DYT-VPS16: The Importance of Splice-Site Variants.
Ana Westenberger, Edgard Verdura, Mandy Radefeldt, Leslie E Sanderson, Kornelia Tripolszki, Jonathan De Winter

Mov Disord· November 2025

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
L
Loss-of-function variants in SPTAN1 and SPTBN4 cause early-onset hereditary myopathy.
Jonathan De Winter, Johanna Palmio, Markus Schuelke, Bjarne Udd, Werner Stenzel

J Physiol· September 2025

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
A
A heterozygous 9q34 deletion encompassing SPTAN1 as a cause of distal myopathy.
Liedewei Van de Vondel, Jonathan De Winter, Alice Monticelli, Natacha Camacho, Tine Deconinck

Eur J Hum Genet· September 2025

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
H
Heterozygous loss-of-function variants in SPTAN1 cause an early childhood onset distal myopathy.
Jonathan De Winter, Liedewei Van de Vondel, Biljana Ermanoska, Alice Monticelli, Arnaud Isapof

Genet Med· June 2025

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
T
TBP Repeat Expansion Analysis in Patients Carrying Heterozygous STUB1 Variants.
Jonathan De Winter, Liedewei Van de Vondel, Kristof Van Schil, Tine Deconinck, Katrien Storm

Mov Disord· May 2025

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
L
Long-Term Follow Up in Anti-Contactin-1 Autoimmune Nodopathy.
Marta Caballero-Ávila, Lorena Martín-Aguilar, Elba Pascual-Goñi, Milou R Michael, Marleen J A Koel-Simmelink, Jonathan De Winter

Ann Neurol· March 2025

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
H
Heterozygous loss-of-function variants in SPTAN1 cause a novel early childhood onset distal myopathy with chronic neurogenic features.
Jonathan De Winter, Liedewei Van de Vondel, Biljana Ermanoska, Alice Monticelli, Arnaud Isapof

medRxiv· September 2024

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
R
Reduction of sacsin levels in peripheral blood mononuclear cells as a diagnostic tool for spastic ataxia of Charlevoix-Saguenay.
Daniele De Ritis, Laura Ferrè, Jonathan De Winter, Clémence Tremblay-Desbiens, Mathieu Blais

Brain Commun· July 2024

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
O
Overarching pathomechanisms in inherited peripheral neuropathies, spastic paraplegias, and cerebellar ataxias.
Liedewei Van de Vondel, Jonathan De Winter, Vincent Timmerman, Jonathan Baets

Trends Neurosci· March 2024

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
G
Genetic landscape of congenital insensitivity to pain and hereditary sensory and autonomic neuropathies.
Annette Lischka, Katja Eggermann, Christopher J Record, Maike F Dohrn, Petra Laššuthová, Jonathan de Winter

Brain· December 2023

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
D
Distinct features in adult polyglucosan body disease: a case series.
Jonathan De Winter, Gert Cypers, Edwin Jacobs, Stephanie Vanden Bossche, Tine Deconinck

Neuromuscul Disord· February 2023

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
C
Commentary: , encoding the βV-spectrin protein, leads to a syndrome of intellectual disability, developmental delay, and seizures.
Liedewei Van De Vondel, Jonathan De Winter, Jonathan Baets

Front Mol Neurosci· September 2022

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
R
RFC1 repeat expansions: A recurrent cause of sensory and autonomic neuropathy with cough and ataxia.
Danique Beijer, Maike F Dohrn, Jonathan De Winter, Sarah Fazal, Andrea Cortese

Eur J Neurol· July 2022

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
D
De Novo and Dominantly Inherited SPTAN1 Mutations Cause Spastic Paraplegia and Cerebellar Ataxia.
Liedewei Van de Vondel, Jonathan De Winter, Danique Beijer, Giulia Coarelli, Melanie Wayand

Mov Disord· June 2022

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
A
A Recurrent KPNA3 Missense Variant Causing Infantile Pure Spastic Paraplegia.
Jonathan De Winter, Liedewei Van de Vondel, Stephan Züchner, Els Ortibus, Jonathan Baets

Ann Neurol· February 2022

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
E
Erratum to: Biallelic variants in HPDL cause pure and complicated hereditary spastic paraplegia.
Manuela Wiessner, Reza Maroofian, Meng-Yuan Ni, Andrea Pedroni, Juliane S Müller, Jonathan De Winter

Brain· September 2021

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
A
Autochthonous Cases of Tick-Borne Encephalitis, Belgium, 2020.
Anke Stoefs, Leo Heyndrickx, Jonathan De Winter, Evelien Coeckelbergh, Barbara Willekens

Emerg Infect Dis· August 2021

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
B
Biallelic variants in HPDL cause pure and complicated hereditary spastic paraplegia.
Manuela Wiessner, Reza Maroofian, Meng-Yuan Ni, Andrea Pedroni, Juliane S Müller, Jonathan De Winter

Brain· June 2021

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
P
PCYT2 mutations disrupting etherlipid biosynthesis: phenotypes converging on the CDP-ethanolamine pathway.
Jonathan De Winter, Danique Beijer, Willem De Ridder, Matthis Synofzik, Stephan L Zuchner

Brain· March 2021

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis