Zobrazeno 1 - 9
of 9
pro vyhledávání: '"Jason Hehir"'
Autor:
Clodagh Towns, Zih-Hua Fang, Manuela M. X. Tan, Simona Jasaityte, Theresa M. Schmaderer, Eleanor J. Stafford, Miriam Pollard, Russel Tilney, Megan Hodgson, Lesley Wu, Robyn Labrum, Jason Hehir, James Polke, Lara M. Lange, Anthony H. V. Schapira, Kailash P. Bhatia, Parkinson’s Families Project (PFP) Study Group, Global Parkinson’s Genetics Program (GP2), Andrew B. Singleton, Cornelis Blauwendraat, Christine Klein, Henry Houlden, Nicholas W. Wood, Paul R. Jarman, Huw R. Morris, Raquel Real
Publikováno v:
npj Parkinson's Disease, Vol 10, Iss 1, Pp 1-13 (2024)
Abstract The Parkinson’s Families Project is a UK-wide study aimed at identifying genetic variation associated with familial and early-onset Parkinson’s disease (PD). We recruited individuals with a clinical diagnosis of PD and age at motor sympt
Externí odkaz:
https://doaj.org/article/492a58c74a1046dba388813690ffc138
Autor:
Steven J. Lubbe, Theresita Joseph, Andrew B. Singleton, Dimitri Krainc, Valentina Escott-Price, Nigel Williams, Huw R. Morris, Bernabé I. Bustos, Jing Hu, Jason Hehir, Weijia Zhang, Manuela Tan, Cornelis Blauwendraat
Publikováno v:
Human Molecular Genetics
Biallelic Parkin (PRKN) mutations cause autosomal recessive Parkinson’s disease (PD); however, the role of monoallelic PRKN mutations as a risk factor for PD remains unclear. We investigated the role of single heterozygous PRKN mutations in three l
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::caaf09013efefd333a98e98bf486298a
https://orca.cardiff.ac.uk/id/eprint/140346/1/ddaa273.pdf
https://orca.cardiff.ac.uk/id/eprint/140346/1/ddaa273.pdf
Autor:
Theresita Joseph, Jing Hu, Bernabé I. Bustos, Nigel Williams, Steven J. Lubbe, Manuela Tan, Cornelis Blauwendraat, Huw R. Morris, Jason Hehir, Valentina Escott-Price, Weijia Zhang, Andrew B. Singleton, Dimitri Krainc
Biallelic PARK2 (Parkin) mutations cause autosomal recessive Parkinson’s (PD); however, the role of monoallelic PARK2 mutations as a risk factor for PD remains unclear. We investigated the role of single heterozygous PARK2 mutations in three large
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::47fd4e1224badaa6a093b1ac189f1bfa
https://doi.org/10.1101/2020.06.26.20138172
https://doi.org/10.1101/2020.06.26.20138172
Autor:
Kevin Mills, Patricia Limousin, Wendy E. Heywood, Laura Smith, Philip Woodgate, Josh Elflein, Jenny Hällqvist, Philip Campbell, Joanne Hosking, Anthony H.V. Schapira, Jason Hehir, Sarah Cable, Thomas Foltynie, Adam Streeter, Katherine Lee, Gayle D’Souza, Rajeshree Khengar, Vincenzo Libri, Henrik Zetterberg, Stephen Mullin, Marco Toffoli
Publikováno v:
JAMA Neurology. 77:427
Mutations of the glucocerebrosidase gene, GBA1 (OMIM 606463), are the most important risk factor for Parkinson disease (PD). In vitro and in vivo studies have reported that ambroxol increases β-glucocerebrosidase (GCase) enzyme activity and reduces
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e6493b828f1e9cbd20d6ab739c9fe791
https://doi.org/10.1001/jamaneurol.2019.4611
https://doi.org/10.1001/jamaneurol.2019.4611
Autor:
Manuela Tan, Steven J. Lubbe, Theresita Joseph, Huw R. Morris, Wei Zhang, Jason Hehir, Henry Houlden
Publikováno v:
Journal of Neurology, Neurosurgery & Psychiatry. 88:A59.4-A60
Background Parkinson’s disease (PD) is a common neurodegenerative disorder, for which genetics plays a small yet significant component of its complex aetiology. Copy number variants (CNVs), involving duplications or deletions of DNA segments of var
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::a0e1589d862bea004fe873054db2da1f
https://doi.org/10.1136/jnnp-2017-abn.205
https://doi.org/10.1136/jnnp-2017-abn.205
Autor:
John Hardy, Sarah Morgan, Jason Hehir, Raquel Duran, Francisco Vives, Niccolo E. Mencacci, Francisco J. Barrero, Sara Bandres-Ciga, Francisco Escamilla-Sevilla, Alan M. Pittman
Publikováno v:
ResearcherID
To date, a large spectrum of genetic variants has been related to familial and sporadic Parkinson's disease (PD) in diverse populations worldwide. However, very little is known about the genetic landscape of PD in Southern Spain, despite its particul
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7b242c8d688071c0f4f17911d6f437c1
https://pubmed.ncbi.nlm.nih.gov/26518746
https://pubmed.ncbi.nlm.nih.gov/26518746
Autor:
Jason Hehir, Amelie Pandraud, Henry Houlden, Dena G. Hernandez, Mike A. Nalls, John Hardy, Alan M. Pittman, Khadija Rantell, Niall Quinn, Seth Love, Christos Proukakis, Eleanna Kara, Andrew B. Singleton, Nicola J. Giffin, Elizabeth Nacheva, Tamas Revesz, Janice L. Holton, Kailash P. Bhatia, Aoife Kiely
Publikováno v:
JAMA neurology. 71(9)
Importance: α-Synuclein (SNCA) locus duplications are associated with variable clinical features and reduced penetrance but the reasons underlying this variability are unknown. Objectives: To report a novel family carrying a heterozygous 6.4 Mb dupl
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::cfb269e6c1f967d5e8a8c5a29510ee6c
https://pubmed.ncbi.nlm.nih.gov/25003242
https://pubmed.ncbi.nlm.nih.gov/25003242
Autor:
Mark Poulter, James M. Polke, Ese E. Mudanohwo, DJ Hensman Moss, John Beck, Henry Houlden, Simon Mead, Edward J. Wild, T Campbell, Jason Hehir, Sarah J. Tabrizi, Peter McColgan, Mary G. Sweeney, A Haworth, Gary Adamson
Publikováno v:
Journal of Neurology, Neurosurgery & Psychiatry. 85:A82-A82
Background In many cases where Huntington’s disease (HD) is suspected, the genetic test for HD is negative: these are known as HD phenocopies. Most of these individuals remain without a genetic diagnosis. A repeat expansion in the C9orf72 gene has
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::d640b691e45388a719e8e7ff87c0aa5f
https://doi.org/10.1136/jnnp-2014-309032.235
https://doi.org/10.1136/jnnp-2014-309032.235
Autor:
Henry Houlden, Garry Adamson, Ese E. Mudanohwo, Davina J. Hensman Moss, Mark Poulter, James M. Polke, Jon Beck, Tracy Campbell, A Haworth, Edward J. Wild, Simon Mead, Jason Hehir, Sarah J. Tabrizi, Peter McColgan, Mary G. Sweeney
Publikováno v:
Neurology. 82:1753-1753
Objective In many cases where Huntington disease (HD) is suspected, the genetic test for HD is negative: these are known as HD phenocopies. A repeat expansion in the C9orf72 gene has recently been identified as a major cause of familial and sporadic
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1578afa6e1bd5cb2119ccbdc73332d3b
https://doi.org/10.1212/wnl.0000000000000510
https://doi.org/10.1212/wnl.0000000000000510