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Van de Vondel, Liedewei
23  results:
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1

Overarching pathomechanisms in inherited peripheral neuropa..:

Van de Vondel, Liedewei ; De Winter, Jonathan ; Timmerman, Vincent.
Trends in Neurosciences.  47 (2024)  3 - p. 227-238 , 2024
Link: https://doi.org/10.1016/..
 
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2

Alternative splicing expands the clinical spectrum of NDUFS..:

Armirola-Ricaurte, Camila ; Zonnekein, Noortje ; Koutsis, Georgios...
Genetics in Medicine.  26 (2024)  6 - p. 101117 , 2024
Link: https://doi.org/10.1016/..
 
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3

Commentary: SPTBN5, encoding the βV-spectrin protein, leads..:

Van De Vondel, Liedewei ; De Winter, Jonathan ; Baets, Jonathan
Frontiers in Molecular Neuroscience.  15 (2022)  - p. , 2022
Link: https://doi.org/10.3389/..
 
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4

BiP inactivation due to loss of the deAMPylation function o..:

Rebelo, Adriana P. ; Ruiz, Ariel ; Dohrn, Maike F....
Genetics in Medicine.  24 (2022)  12 - p. 2487-2500 , 2022
Link: https://doi.org/10.1016/..
 
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5

De Novo and Dominantly Inherited SPTAN1 Mutations Cause Spa..:

Van de Vondel, Liedewei ; De Winter, Jonathan ; Beijer, Danique...
Movement Disorders.  37 (2022)  6 - p. 1175-1186 , 2022
Link: https://doi.org/10.1002/..
 
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6

A Recurrent KPNA3 Missense Variant Causing Infantile Pure S..:

De Winter, Jonathan ; Van de Vondel, Liedewei ; Züchner, Stephan..
Annals of Neurology.  91 (2022)  2 - p. 298-299 , 2022
Link: https://doi.org/10.1002/..
 
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7

Reply:De novo SPTAN1mutation in axonal sensorimotor neuropa..:

Van de Vondel, Liedewei ; Baets, Jonathan ; Beijer, Danique
Brain.  143 (2020)  12 - p. e105-e105 , 2020
Link: https://doi.org/10.1093/..
 
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8

A Solve-RD ClinVar-based reanalysis of 1522 index cases fro..:

Denommé-Pichon, Anne-Sophie ; Matalonga, Leslie ; de Boer, Elke...
https://doi.org/10.1016/j.gim.2023.100018.  , 2023
Link: http://orbilu.uni.lu/han..
 
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9

Twist exome capture allows for lower average sequence cover..:

Yaldiz, Burcu ; Kucuk, Erdi ; Hampstead, Juliet...
https://humgenomics.biomedcentral.com/articles/10.1186/s40246-023-00485-5.  , 2023
Link: http://orbilu.uni.lu/han..
 
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10

De novo and dominantly inherited SPTAN1 mutations cause Spa..:

Van de Vondel, Liedewei ; De Winter, Jonathan ; Beijer, Danique...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC9232883/.  , 2022
Link: http://www.ncbi.nlm.nih...
 
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11

Commentary: SPTBN5, encoding the βV-spectrin protein, leads..:

Van De Vondel, Liedewei ; De Winter, Jonathan ; Baets, Jonathan
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC9552555/.  , 2022
Link: http://www.ncbi.nlm.nih...
 
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12

A Recurrent KPNA3 Missense Variant Causing Infantile Pure S..:

De Winter, Jonathan ; Van de Vondel, Liedewei ; Züchner, Stephan..
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC10049798/.  , 2022
Link: http://www.ncbi.nlm.nih...
 
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13

Solving patients with rare diseases through programmatic re..:

Sommer, Anna Katharina ; Paske, Iris Te ; Dizjikan, Farid Yavari...
info:eu-repo/semantics/altIdentifier/doi/10.1038/s41431-021-00852-7.  , 2021
Link: https://hal.sorbonne-uni..
 
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14

Solving patients with rare diseases through programmatic re..:

Matalonga, Leslie ; Hernández-Ferrer, Carles ; Piscia, Davide...
http://shura.shu.ac.uk/29063/.  , 2021
Link: https://shura.shu.ac.uk/..
 
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15

Solve-RD: systematic pan-European data sharing and collabor..:

Zurek, Birte ; Ellwanger, Kornelia ; Ossowski, Stephan...
info:eu-repo/semantics/altIdentifier/pmid/pmid:34075208.  , 2021
Link: https://pub.dzne.de/reco..
 
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