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Verschuuren, Corien
65
results:
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Format
Online (65)
Mediatypes
Articles (Online) (23)
OpenAccess-fulltext (42)
Sorted by: Relevance
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?
1
Loss‐of‐Function Variants in HOPS Complex Genes VPS16 and V..:
Steel, Dora
;
Zech, Michael
;
Zhao, Chen
...
Annals of Neurology. 88 (2020) 5 - p. 867-877 , 2020
Link:
https://doi.org/10.1002/..
?
2
Variants inSLC18A3, vesicular acetylcholine transporter, ca..:
O'Grady, Gina L.
;
Verschuuren, Corien
;
Yuen, Michaela
...
Neurology. 87 (2016) 14 - p. 1442-1448 , 2016
Link:
https://doi.org/10.1212/..
?
3
Null mutations causing depletion of the type 1 ryanodine re..:
Monnier, Nicole
;
Marty, Isabelle
;
Faure, Julien
...
Human Mutation. 29 (2008) 5 - p. 670-678 , 2008
Link:
https://doi.org/10.1002/..
?
4
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/..
?
5
Clinical and Mutational Characteristics of SMARD1 Patients ..:
Stalpers, Xenia
;
Verrips, Aad
;
Poll-The, Bwee-Tien
...
Neurology. 80 (2013) 7_supplement - p. , 2013
Link:
https://doi.org/10.1212/..
?
6
Clinical and mutational characteristics of spinal muscular ..:
Stalpers, Xenia L.
;
Verrips, Aad
;
Poll-The, Bwee Tien
...
Neuromuscular Disorders. 23 (2013) 6 - p. 461-468 , 2013
Link:
https://doi.org/10.1016/..
?
7
Clinical and Mutational Characteristics of SMARD1 Patients ..:
Stalpers, Xenia
;
Verrips, Aad
;
Poll-The, Bwee-Tien
...
Neurology. 80 (2013) 7_supplement - p. , 2013
Link:
https://doi.org/10.1212/..
?
8
PRRT2phenotypes and penetrance of paroxysmal kinesigenic dy..:
van Vliet, Rianne
;
Breedveld, Guido
;
de Rijk-van Andel, Johanneke
...
Neurology. 79 (2012) 8 - p. 777-784 , 2012
Link:
https://doi.org/10.1212/..
?
9
Counselling following the Prenatal Diagnosis of Klinefelter..:
Hall, Sue
;
Marteau, Theresa M.
;
Limbert, Caroline
...
Community Genetics. 4 (2001) 4 - p. 233-238 , 2001
Link:
https://www.jstor.org/st..
?
10
Loss-of-function variants in HOPS complex genes VPS16 and V..:
Steel, Dora
;
Zech, Michael
;
Zhao, Chen
...
https://research.rug.nl/en/publications/1a1ad90a-f2ce-4725-a997-f0ece20786a9. , 2020
Link:
https://hdl.handle.net/1..
?
11
Loss‐of‐Function Variants in HOPS Complex Genes VPS16 and V..:
Steel, Dora
;
Zech, Michael
;
Zhao, Chen
...
https://mediatum.ub.tum.de/1586226. , 2020
Link:
https://mediatum.ub.tum...
?
12
Variants in SLC18A3, vesicular acetylcholine transporter, c..:
O'Grady, Gina L
;
Verschuuren, Corien
;
Yuen, Michaela
...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5075972/. , 2016
Link:
http://www.ncbi.nlm.nih...
?
13
The natural history of progressive myoclonus ataxia:
van der Veen, Sterre
;
Eggink, Hendriekje
;
Elting, Jan Willem J.
...
Neurobiology of Disease. 199 (2024) - p. 106555 , 2024
Link:
https://doi.org/10.1016/..
?
14
Feasibility of Follow-Up Studies and Reclassification in Sp..:
Ghorbani, Fatemeh
;
Alimohamed, Mohamed Z.
;
Vilacha, Juliana F.
...
Frontiers in Genetics. 13 (2022) - p. , 2022
Link:
https://doi.org/10.3389/..
?
15
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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