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Pennings, Maartje
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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/..
 
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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/..
 
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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/..
 
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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/..
 
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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/..
 
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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/..
 
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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/..
 
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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/..
 
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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/..
 
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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/..
 
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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/..
 
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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/..
 
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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/..
 
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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/..
 
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