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Deconinck, Tine
83
results:
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Online (83)
Mediatypes
Articles (Online) (39)
OpenAccess-fulltext (44)
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1
Vitamin D3 deficiency and osteopenia in spastic paraplegia ..:
Ehnert, Sabrina
;
Hauser, Stefan
;
Hengel, Holger
...
Scientific Reports. 14 (2024) 1 - p. , 2024
Link:
https://doi.org/10.1038/..
?
2
Dominant NARS1 mutations causing axonal Charcot–Marie–Tooth..:
Beijer, Danique
;
Marte, Sheila
;
Li, Jiaxin C
...
Brain Communications. 6 (2024) 2 - p. , 2024
Link:
https://doi.org/10.1093/..
?
3
A homozygous loss of function variant in POPDC3: From inval..:
De Ridder, Willem
;
de Vries, Geert
;
Van Schil, Kristof
...
Neuromuscular Disorders. 33 (2023) 5 - p. 432-439 , 2023
Link:
https://doi.org/10.1016/..
?
4
Distinct features in adult polyglucosan body disease: a cas..:
De Winter, Jonathan
;
Cypers, Gert
;
Jacobs, Edwin
...
Neuromuscular Disorders. 33 (2023) 2 - p. 148-152 , 2023
Link:
https://doi.org/10.1016/..
?
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/..
?
6
Biallelic variants in HPDL cause pure and complicated hered..:
Wiessner, Manuela
;
Maroofian, Reza
;
Ni, Meng-Yuan
...
Brain. 144 (2021) 5 - p. 1422-1434 , 2021
Link:
https://doi.org/10.1093/..
?
7
Biallelic ADPRHL2 mutations in complex neuropathy affect AD..:
Beijer, Danique
;
Agnew, Thomas
;
Rack, Johannes Gregor Matthias
...
Life Science Alliance. 4 (2021) 11 - p. e202101057 , 2021
Link:
https://doi.org/10.26508..
?
8
Characterization of HNRNPA1 mutations defines diversity in ..:
Beijer, Danique
;
Kim, Hong Joo
;
Guo, Lin
...
JCI Insight. 6 (2021) 14 - p. , 2021
Link:
https://doi.org/10.1172/..
?
9
Erratum to: Biallelic variants in HPDL cause pure and compl..:
Wiessner, Manuela
;
Maroofian, Reza
;
Ni, Meng-Yuan
...
Brain. 144 (2021) 8 - p. e70-e70 , 2021
Link:
https://doi.org/10.1093/..
?
10
The genetic landscape of axonal neuropathies in the middle-..:
Senderek, Jan
;
Lassuthova, Petra
;
Kabzińska, Dagmara
...
Neurology. 95 (2020) 24 - p. , 2020
Link:
https://doi.org/10.1212/..
?
11
Diagnostic implications of genetic copy number variation in..:
Coppola, Antonietta
;
Cellini, Elena
;
Stamberger, Hannah
...
Epilepsia. 60 (2019) 4 - p. 689-706 , 2019
Link:
https://doi.org/10.1111/..
?
12
Nonsense mutations in alpha-II spectrin in three families w..:
Beijer, Danique
;
Deconinck, Tine
;
De Bleecker, Jan L
...
Brain. 142 (2019) 9 - p. 2605-2616 , 2019
Link:
https://doi.org/10.1093/..
?
13
FAHN/SPG35: a narrow phenotypic spectrum across disease cla..:
Rattay, Tim W
;
Lindig, Tobias
;
Baets, Jonathan
...
Brain. 142 (2019) 6 - p. 1561-1572 , 2019
Link:
https://doi.org/10.1093/..
?
14
Biallelic VARS variants cause developmental encephalopathy ..:
Siekierska, Aleksandra
;
Stamberger, Hannah
;
Deconinck, Tine
...
Nature Communications. 10 (2019) 1 - p. , 2019
Link:
https://doi.org/10.1038/..
?
15
Loss of paraplegin drives spasticity rather than ataxia in ..:
Coarelli, Giulia
;
Schule, Rebecca
;
van de Warrenburg, Bart P.C.
...
Neurology. 92 (2019) 23 - p. , 2019
Link:
https://doi.org/10.1212/..
1-15