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Thomas Bourinaris
26
results:
Search for persons
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Format
Online (26)
Mediatypes
Articles (Online) (15)
OpenAccess-fulltext (11)
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1
Aggregation-resistant alpha-synuclein tetramers are reduced..:
de Boni, Laura
;
Wallis, Amber
;
Hays Watson, Aurelia
...
EMBO Molecular Medicine. 16 (2024) 7 - p. 1657-1674 , 2024
Link:
https://doi.org/10.1038/..
?
2
Some pathogenic SETX variants are partially conserved durin..:
Tariq, Huma
;
Tariq, Iqra
;
Bourinaris, Thomas
..
Gene. 771 (2021) - p. 145360 , 2021
Link:
https://doi.org/10.1016/..
?
3
Allelic and phenotypic heterogeneity in Junctophillin-3 rel..:
Bourinaris, Thomas
;
Athanasiou, Alkyoni
;
Efthymiou, Stephanie
...
European Journal of Human Genetics. 29 (2021) 6 - p. 1027-1031 , 2021
Link:
https://doi.org/10.1038/..
?
4
Spastic paraplegia preceding PSEN1‐related familial Alzheim..:
Chelban, Viorica
;
Breza, Marianthi
;
Szaruga, Maria
...
Alzheimer's & Dementia: Diagnosis, Assessment & Disease Monitoring. 13 (2021) 1 - p. , 2021
Link:
https://doi.org/10.1002/..
?
5
Expanding the Spectrum of AP5Z1‐Related Hereditary Spastic ..:
Breza, Marianthi
;
Hirst, Jennifer
;
Chelban, Viorica
...
Movement Disorders. 36 (2021) 4 - p. 1034-1038 , 2021
Link:
https://doi.org/10.1002/..
?
6
SORL1 mutation in a Greek family with Parkinson's disease a..:
Xiromerisiou, Georgia
;
Bourinaris, Thomas
;
Houlden, Henry
...
Annals of Clinical and Translational Neurology. 8 (2021) 10 - p. 1961-1969 , 2021
Link:
https://doi.org/10.1002/..
?
7
Neuronal intranuclear inclusion disease is genetically hete..:
Chen, Zhongbo
;
Yan Yau, Wai
;
Jaunmuktane, Zane
...
Annals of Clinical and Translational Neurology. 7 (2020) 9 - p. 1716-1725 , 2020
Link:
https://doi.org/10.1002/..
?
8
Identification of UBAP1 mutations in juvenile hereditary sp..:
Bourinaris, Thomas
;
Smedley, Damian
;
Cipriani, Valentina
...
European Journal of Human Genetics. 28 (2020) 12 - p. 1763-1768 , 2020
Link:
https://doi.org/10.1038/..
?
9
Rare novel CYP2U1 and ZFYVE26 variants identified in two Pa..:
Bibi, Farah
;
Efthymiou, Stephanie
;
Bourinaris, Thomas
...
Journal of the Neurological Sciences. 411 (2020) - p. 116669 , 2020
Link:
https://doi.org/10.1016/..
?
10
Adaptor protein complex 4 deficiency: a paradigm of childho..:
Behne, Robert
;
Teinert, Julian
;
Wimmer, Miriam
...
Human Molecular Genetics. 29 (2020) 2 - p. 320-334 , 2020
Link:
https://doi.org/10.1093/..
?
11
A homozygous GDAP2 loss-of-function variant in a patient wi..:
Houlden, Henry
;
Koutsis, Georgios
;
Karadima, Georgia
...
Brain. 143 (2020) 6 - p. e49-e49 , 2020
Link:
https://doi.org/10.1093/..
?
12
Screening for the C9ORF72 Expansion in Greek Huntington Dis..:
Rikos, Dimitrios
;
Marogianni, Chrysoula
;
Provatas, Antonios
...
Tremor and Other Hyperkinetic Movements. 10 (2020) 0 - p. 5 , 2020
Link:
https://doi.org/10.5334/..
?
13
Identification of common genetic markers of paroxysmal neur..:
Ilyas, Muhammad
;
Salpietro, Vincenzo
;
Efthymiou, Stephanie
...
Neurological Sciences. 41 (2019) 4 - p. 851-857 , 2019
Link:
https://doi.org/10.1007/..
?
14
C9orf72 and its Relevance in Parkinsonism and Movement Diso..:
Bourinaris, Thomas
;
Houlden, Henry
Movement Disorders Clinical Practice. 5 (2018) 6 - p. 575-585 , 2018
Link:
https://doi.org/10.1002/..
?
15
Genotype-phenotype correlations and expansion of the molecu..:
Bettencourt, Conceição
;
Salpietro, Vincenzo
;
Efthymiou, Stephanie
...
Orphanet Journal of Rare Diseases. 12 (2017) 1 - p. , 2017
Link:
https://doi.org/10.1186/..
1-15