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Pennings, Maartje
47
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Online (47)
Mediatypes
Articles (Online) (19)
OpenAccess-fulltext (28)
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1
A New Case Series Suggests That SCA48 (ATX/STUB1) Is Primar..:
van Prooije, Teije H.
;
Pennings, Maartje
;
Dorresteijn, Lucille
...
Movement Disorders. , 2024
Link:
https://doi.org/10.1002/..
?
2
Copy number variants from 4800 exomes contribute to ~7% of ..:
Pennings, Maartje
;
Meijer, Rowdy P. P.
;
Gerrits, Monique
...
European Journal of Human Genetics. 31 (2023) 6 - p. 654-662 , 2023
Link:
https://doi.org/10.1038/..
?
3
Genetic characterization of primary lateral sclerosis:
de Boer, Eva M. J.
;
de Vries, Balint S.
;
Pennings, Maartje
...
Journal of Neurology. 270 (2023) 8 - p. 3970-3980 , 2023
Link:
https://doi.org/10.1007/..
?
4
The mitochondrial seryl-tRNA synthetase SARS2 modifies onse..:
Parodi, Livia
;
Barbier, Mathieu
;
Jacoupy, Maxime
...
Genetics in Medicine. 24 (2022) 11 - p. 2308-2317 , 2022
Link:
https://doi.org/10.1016/..
?
5
Neuromuscular Features in XL-MTM Carriers: A Cross-sectiona..:
Franken, Daniëlle K.
;
Bouman, Karlijn
;
Reumers, Stacha F. I.
...
Neurology. 99 (2022) 20 - p. , 2022
Link:
https://doi.org/10.1212/..
?
6
Prevalence of intronic repeat expansions in RFC1 in Dutch p..:
Ghorbani, Fatemeh
;
de Boer-Bergsma, Jelkje
;
Verschuuren-Bemelmans, Corien C.
...
Journal of Neurology. 269 (2022) 11 - p. 6086-6093 , 2022
Link:
https://doi.org/10.1007/..
?
7
Reanalysis of exome negative patients with rare disease: a ..:
Schobers, Gaby
;
Schieving, Jolanda H.
;
Yntema, Helger G.
...
Genome Medicine. 14 (2022) 1 - p. , 2022
Link:
https://doi.org/10.1186/..
?
8
Systematic analysis of short tandem repeats in 38,095 exome..:
van der Sanden, Bart P.G.H.
;
Corominas, Jordi
;
de Groot, Michelle
...
Genetics in Medicine. 23 (2021) 8 - p. 1569-1573 , 2021
Link:
https://doi.org/10.1038/..
?
9
The complexities of CACNA1A in clinical neurogenetics:
Hommersom, Marina P.
;
van Prooije, Teije H.
;
Pennings, Maartje
...
Journal of Neurology. 269 (2021) 6 - p. 3094-3108 , 2021
Link:
https://doi.org/10.1007/..
?
10
Spectrum of Clinical Features in X-Linked Myotubular Myopat..:
Reumers, Stacha F.I.
;
Braun, Frederik
;
Spillane, Jennifer E.
...
Neurology. 97 (2021) 5 - p. , 2021
Link:
https://doi.org/10.1212/..
?
11
Clinical, genetic, and histological features of centronucle..:
Reumers, Stacha F. I.
;
Erasmus, Corrie E.
;
Bouman, Karlijn
...
Clinical Genetics. 100 (2021) 6 - p. 692-702 , 2021
Link:
https://doi.org/10.1111/..
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12
De novo variants in CAMTA1 cause a syndrome variably associ..:
Wijnen, Iris G. M.
;
Veenstra-Knol, Hermine E.
;
Vansenne, Fleur
...
European Journal of Human Genetics. 28 (2020) 6 - p. 763-769 , 2020
Link:
https://doi.org/10.1038/..
?
13
Clinical presentation and long‐term follow‐up of dopamine b..:
Wassenberg, Tessa
;
Deinum, Jaap
;
van Ittersum, Frans J.
...
Journal of Inherited Metabolic Disease. 44 (2020) 3 - p. 554-565 , 2020
Link:
https://doi.org/10.1002/..
?
14
Cytidine Diphosphate-Ribitol Analysis for Diagnostics and T..:
van Tol, Walinka
;
van Scherpenzeel, Monique
;
Alsady, Mohammad
...
Clinical Chemistry. 65 (2019) 10 - p. 1295-1306 , 2019
Link:
https://doi.org/10.1373/..
?
15
KIF1A variants are a frequent cause of autosomal dominant h..:
Pennings, Maartje
;
Schouten, Meyke I.
;
van Gaalen, Judith
...
European Journal of Human Genetics. 28 (2019) 1 - p. 40-49 , 2019
Link:
https://doi.org/10.1038/..
1-15