Zobrazeno 1 - 10
of 22
pro vyhledávání: '"Thomas Bourinaris"'
Autor:
Laura de Boni, Amber Wallis, Aurelia Hays Watson, Alejandro Ruiz-Riquelme, Louise-Ann Leyland, Thomas Bourinaris, Naomi Hannaway, Ullrich Wüllner, Oliver Peters, Josef Priller, Björn H Falkenburger, Jens Wiltfang, Mathias Bähr, Inga Zerr, Katharina Bürger, Robert Perneczky, Stefan Teipel, Matthias Löhle, Wiebke Hermann, Björn-Hendrik Schott, Kathrin Brockmann, Annika Spottke, Katrin Haustein, Peter Breuer, Henry Houlden, Rimona S Weil, Tim Bartels
Publikováno v:
EMBO Molecular Medicine, Vol 16, Iss 7, Pp 1657-1674 (2024)
Abstract Synucleinopathies such as Parkinson’s disease (PD) are defined by the accumulation and aggregation of the α-synuclein protein in neurons, glia and other tissues. We have previously shown that destabilization of α-synuclein tetramers is a
Externí odkaz:
https://doaj.org/article/236805c429ea4d8aa5198401625295ba
Autor:
Georgia Xiromerisiou, Thomas Bourinaris, Henry Houlden, Patrick A. Lewis, Konstantin Senkevich, Monia Hammer, Monica Federoff, Alaa Khan, Cleanthe Spanaki, Georgios M. Hadjigeorgiou, Sevasti Bonstanjopoulou, Liana Fidani, Aleksey Ermolaev, Ziv Gan‐Or, Andrew Singleton, Jana Vandrovcova, John Hardy
Publikováno v:
Annals of Clinical and Translational Neurology, Vol 8, Iss 10, Pp 1961-1969 (2021)
Abstract Whole exome sequencing and linkage analysis were performed in a three generational pedigree of Greek origin with a broad phenotypic spectrum spanning from Parkinson’s disease and Parkinson’s disease dementia to dementia of mixed type (Al
Externí odkaz:
https://doaj.org/article/9110094f166e4dba91ed8d6a0740bbee
Autor:
Viorica Chelban, Marianthi Breza, Maria Szaruga, Jana Vandrovcova, David Murphy, Chia‐Ju Lee, Sondos Alikhwan, Thomas Bourinaris, George Vavougios, Muhammad Ilyas, Sobia Ahsan Halim, Ahmed Al‐Harrasi, Chrisoula Kartanou, Coras Ronald, Ingmar Blumcke, Athanasia Alexoudi, Stylianos Gatzonis, Leonidas Stefanis, Georgia Karadima, Nicholas W. Wood, Lucía Chávez‐Gutiérrez, John Hardy, Henry Houlden, Georgios Koutsis
Publikováno v:
Alzheimer’s & Dementia: Diagnosis, Assessment & Disease Monitoring, Vol 13, Iss 1, Pp n/a-n/a (2021)
Abstract Introduction We investigated the frequency, neuropathology, and phenotypic characteristics of spastic paraplegia (SP) that precedes dementia in presenilin 1 (PSEN1) related familial Alzheimer's disease (AD). Methods We performed whole exome
Externí odkaz:
https://doaj.org/article/c428ee4e59644c059d649174fc9f7fa5
Autor:
Conceição Bettencourt, Vincenzo Salpietro, Stephanie Efthymiou, Viorica Chelban, Deborah Hughes, Alan M. Pittman, Monica Federoff, Thomas Bourinaris, Martha Spilioti, Georgia Deretzi, Triantafyllia Kalantzakou, Henry Houlden, Andrew B. Singleton, Georgia Xiromerisiou
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 12, Iss 1, Pp 1-7 (2017)
Abstract Background Autosomal recessive hereditary spastic paraplegia (HSP) due to AP4M1 mutations is a very rare neurodevelopmental disorder reported for only a few patients. Methods We investigated a Greek HSP family using whole exome sequencing (W
Externí odkaz:
https://doaj.org/article/2e1d6eded8e9403bb6df484406529752
Autor:
Vincenzo Salpietro, Farah Bibi, Ghazala Kaukab Raja, Thomas Bourinaris, Henry Houlden, Stephanie Efthymiou, Asmat Ullah, Tipu Sultan, Shahzad Haider, Yamna Kriouile
Publikováno v:
Klinische Pädiatrie. 233:226-230
Tay-Sachs disease (TSD) is a rare autosomalrecessive genetic disorder characterized by progressive destruction of nerve cells in the brain and spinal cord. It is caused by genetic variations in the HEXA gene leading to a deficiency of β hexosaminida
Autor:
Vincenzo Salpietro, Stephanie Efthymiou, Thomas Bourinaris, Henry Houlden, Sarah Wiethoff, Alkyoni Athanasiou
Publikováno v:
European Journal of Human Genetics
Junctophilin-3 belongs to a triprotein junctional complex implicated in the regulation of neuronal excitability and involved in the formation of junctional membrane structures between voltage-gated ion channels and endoplasmic (ryanodine) reticular r
Autor:
Gabor G. Kovacs, Tammaryn Lashley, Sarah A Gagliano Taliun, Zhongbo Chen, Glenda M. Halliday, Ellen Gelpi, Dennis W. Dickson, Matti Haltia, Roisin Sullivan, Henry Houlden, Thomas Bourinaris, Dominic B. Rowe, Arianna Tucci, Ian P. Blair, Stephanie Efthymiou, Wai Yan Yau, Prasanth Sivakumar, John Hardy, Anu Suomalainen, Kristina Ibáñez, Farah Bibi, Michael DeTure, Pentti J. Tienari, Zane Jaunmuktane, David Zhang, Chris Turner, Nicholas W. Wood, Andrew J. Lees, Alkyoni Athanasiou-Fragkouli, Mina Ryten, Nick C. Fox, Keith A. Josephs, Jana Vandrovcova, Tamas Revesz
Publikováno v:
Annals of Clinical and Translational Neurology, Vol 7, Iss 9, Pp 1716-1725 (2020)
Annals of Clinical and Translational Neurology
Annals of Clinical and Translational Neurology
Neuronal intranuclear inclusion disease (NIID) is a clinically heterogeneous neurodegenerative condition characterized by pathological intranuclear eosinophilic inclusions. A CGG repeat expansion inNOTCH2NLCwas recently identified to be associated wi
Autor:
Ayesha Tariq, Muhammad Ilyas, Henry Houlden, Akmal Ahmad, Habib Ahmad, Thomas Bourinaris, Vincenzo Salpietro, Maria Imdad, Stephanie Efthymiou
Publikováno v:
Neurological Sciences. 41:851-857
Emerging data have established links between paroxysmal neurological disorders or psychiatric disorder, such as migraine, ataxia, movement disorders and epilepsy. Common gene signatures such as expression, protein interaction and the associated signa
Autor:
John Hardy, Georgia Xiromerisiou, Henry Houlden, Jana Vandrovcova, Monia B. Hammer, Sevasti Bonstanjopoulou, Georgios M. Hadjigeorgiou, Monica Federoff, Cleanthe Spanaki, Liana Fidani, Patrick A. Lewis, Andrew B. Singleton, Ziv Gan-Or, Thomas Bourinaris, Alaa Khan, Konstantin Senkevich, Aleksey Ermolaev
Publikováno v:
Annals of Clinical and Translational Neurology
Annals of Clinical and Translational Neurology, Vol 8, Iss 10, Pp 1961-1969 (2021)
Annals of Clinical and Translational Neurology, Vol 8, Iss 10, Pp 1961-1969 (2021)
Whole exome sequencing and linkage analysis were performed in a three generational pedigree of Greek origin with a broad phenotypic spectrum spanning from Parkinson’s disease and Parkinson’s disease dementia to dementia of mixed type (Alzheimer d
Autor:
Yamna Kriouile, Ghazala Kaukab Raja, Shahzad Haider, Henry Houlden, Vincenzo Salpietro, Stephanie Efthymiou, Thomas Bourinaris, Asmat Ullah, Farah Bibi, Tipu Sultan
Publikováno v:
Klinische Pädiatrie.