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Liedewei Van de Vondel

Showing results (1-10 of 27) with videos related to

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Brain : a Journal of Neurology|November 18, 2020
Reply: De novo SPTAN1 mutation in axonal sensorimotor neuropathy and developmental disorderLiedewei Van de Vondel, Jonathan Baets, Danique Beijer
Frontiers in Molecular Neuroscience|October 14, 2022
Commentary: <i>SPTBN5</i>, encoding the βV-spectrin protein, leads to a syndrome of intellectual disability, developmental delay, and seizuresLiedewei Van De Vondel, Jonathan De Winter, Jonathan Baets
Trends in Neurosciences|February 15, 2024
Overarching pathomechanisms in inherited peripheral neuropathies, spastic paraplegias, and cerebellar ataxiasLiedewei Van de Vondel, Jonathan De Winter, Vincent Timmerman, et al.
Annals of Neurology|January 4, 2022
A Recurrent KPNA3 Missense Variant Causing Infantile Pure Spastic ParaplegiaJonathan De Winter, Liedewei Van de Vondel, Stephan Züchner, et al.
Medrxiv : the Preprint Server for Health Sciences|June 22, 2026
Human genetic evidence links serine biosynthesis to diabetic peripheral neuropathyVera Fridman, Aastha Kakar, Aubrey Jensen, et al.
Movement Disorders : Official Journal of the Movement Disorder Society|February 14, 2025
TBP Repeat Expansion Analysis in Patients Carrying Heterozygous STUB1 VariantsJonathan De Winter, Liedewei Van de Vondel, Kristof Van Schil, et al.
European Journal of Human Genetics : EJHG|September 25, 2025
A heterozygous 9q34 deletion encompassing SPTAN1 as a cause of distal myopathyLiedewei Van de Vondel, Jonathan De Winter, Alice Monticelli, et al.
Stem Cell Research|July 2, 2026
Establishment and characterization of three human pluripotent stem cell lines from patients with spinocerebellar ataxia 27B (SCA27B)David Pellerin, Adriana Rebelo, Mohammad Faraz Zafeer, et al.
The Journal of Molecular Diagnostics : JMD|November 23, 2020
Translational Diagnostics: An In-House Pipeline to Validate Genetic Variants in Children with Undiagnosed and Rare DiseasesJordi Pijuan, María Rodríguez-Sanz, Daniel Natera-de Benito, et al.
JIMD Reports|June 10, 2026
Heterozygous <i>OGDH</i> Variants Are Involved in Peripheral Neuropathy With Ataxia and Optical AtrophyLiedewei Van de Vondel, Gyu S Lee, Jonathan De Winter, et al.
Pageof 3

Showing results (1-10 of 27) with videos related to

Sort By:
Pageof 3
Brain : a Journal of Neurology|November 18, 2020
Reply: De novo SPTAN1 mutation in axonal sensorimotor neuropathy and developmental disorderLiedewei Van de Vondel, Jonathan Baets, Danique Beijer
Frontiers in Molecular Neuroscience|October 14, 2022
Commentary: <i>SPTBN5</i>, encoding the βV-spectrin protein, leads to a syndrome of intellectual disability, developmental delay, and seizuresLiedewei Van De Vondel, Jonathan De Winter, Jonathan Baets
Trends in Neurosciences|February 15, 2024
Overarching pathomechanisms in inherited peripheral neuropathies, spastic paraplegias, and cerebellar ataxiasLiedewei Van de Vondel, Jonathan De Winter, Vincent Timmerman, et al.
Annals of Neurology|January 4, 2022
A Recurrent KPNA3 Missense Variant Causing Infantile Pure Spastic ParaplegiaJonathan De Winter, Liedewei Van de Vondel, Stephan Züchner, et al.
Medrxiv : the Preprint Server for Health Sciences|June 22, 2026
Human genetic evidence links serine biosynthesis to diabetic peripheral neuropathyVera Fridman, Aastha Kakar, Aubrey Jensen, et al.
Movement Disorders : Official Journal of the Movement Disorder Society|February 14, 2025
TBP Repeat Expansion Analysis in Patients Carrying Heterozygous STUB1 VariantsJonathan De Winter, Liedewei Van de Vondel, Kristof Van Schil, et al.
European Journal of Human Genetics : EJHG|September 25, 2025
A heterozygous 9q34 deletion encompassing SPTAN1 as a cause of distal myopathyLiedewei Van de Vondel, Jonathan De Winter, Alice Monticelli, et al.
Stem Cell Research|July 2, 2026
Establishment and characterization of three human pluripotent stem cell lines from patients with spinocerebellar ataxia 27B (SCA27B)David Pellerin, Adriana Rebelo, Mohammad Faraz Zafeer, et al.
The Journal of Molecular Diagnostics : JMD|November 23, 2020
Translational Diagnostics: An In-House Pipeline to Validate Genetic Variants in Children with Undiagnosed and Rare DiseasesJordi Pijuan, María Rodríguez-Sanz, Daniel Natera-de Benito, et al.
JIMD Reports|June 10, 2026
Heterozygous <i>OGDH</i> Variants Are Involved in Peripheral Neuropathy With Ataxia and Optical AtrophyLiedewei Van de Vondel, Gyu S Lee, Jonathan De Winter, et al.
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