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Thomas Bourinaris
26  results:
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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/..
 
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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/..
 
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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/..
 
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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/..
 
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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/..
 
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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/..
 
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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/..
 
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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/..
 
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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/..
 
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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/..
 
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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/..
 
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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/..
 
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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/..
 
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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/..
 
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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/..
 
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