Zobrazeno 1 - 8
of 8
pro vyhledávání: '"Colin Duffy"'
Autor:
Christina Moloney, Sruti Rayaprolu, John Howard, Susan Fromholt, Hilda Brown, Matt Collins, Mariela Cabrera, Colin Duffy, Zoe Siemienski, Dave Miller, David R. Borchelt, Jada Lewis
Publikováno v:
Acta Neuropathologica Communications, Vol 6, Iss 1, Pp 1-13 (2018)
Abstract Mutations in MATR3 have been associated with amyotrophic lateral sclerosis (ALS) as well as a form of distal myopathy termed vocal cord pharyngeal distal myopathy (VCPDM). To begin to understand how mutations in MATR3 may cause disease, here
Externí odkaz:
https://doaj.org/article/b6928d9d6c3347e99487cc6b79af70de
Autor:
Christina Moloney, Sruti Rayaprolu, John Howard, Susan Fromholt, Hilda Brown, Matt Collins, Mariela Cabrera, Colin Duffy, Zoe Siemienski, Dave Miller, Maurice S. Swanson, Lucia Notterpek, David R. Borchelt, Jada Lewis
Publikováno v:
Acta Neuropathologica Communications, Vol 5, Iss 1, Pp 1-1 (2017)
Abstract The authors are retracting this article. The article describes mice expressing wild-type human MATR3. However, since publication the authors have become aware that all of the lines of mice described express human MATR3 containing the F115C m
Externí odkaz:
https://doaj.org/article/d64237b7552645d7a5d2dfd84b751f97
Autor:
John Howard, Yasin B. Seven, Benoit I. Giasson, Christina Moloney, Jada Lewis, Sruti Rayaprolu, Colin Duffy, Marcelle Altshuler
Publikováno v:
Molecular and Cellular Neuroscience. 92:17-26
Loss-of-function mutations in ATP13A2 are associated with three neurodegenerative diseases: a rare form of Parkinson's disease termed Kufor-Rakeb syndrome (KRS), a lysosomal storage disorder termed neuronal ceroid lipofuscinosis (NCL), and a form of
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::053024cae5805c76e575fe57e5091fc9
https://doi.org/10.1016/j.mcn.2018.05.009
https://doi.org/10.1016/j.mcn.2018.05.009
Autor:
Colin Duffy, Richard Timothy Coupe
Publikováno v:
Crime Solvability Factors ISBN: 9783030171599
The purpose of this chapter is to understand the characteristics of two forms of internet telephony fraud: remote hacking of telephones that are connected to the internet and the use of stolen credit and debit cards to register as an internet telepho
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::40e0e88bd1a330f057bdf1a1447648f1
https://doi.org/10.1007/978-3-030-17160-5_8
https://doi.org/10.1007/978-3-030-17160-5_8
Autor:
Jada Lewis, Hilda Brown, Susan Fromholt, Matt Collins, John Howard, Zoe Siemienski, David R. Borchelt, Colin Duffy, Sruti Rayaprolu, Christina Moloney, Mariela Cabrera, Dave Miller
Publikováno v:
Acta Neuropathologica Communications
Acta Neuropathologica Communications, Vol 6, Iss 1, Pp 1-13 (2018)
Acta Neuropathologica Communications, Vol 6, Iss 1, Pp 1-13 (2018)
Mutations in MATR3 have been associated with amyotrophic lateral sclerosis (ALS) as well as a form of distal myopathy termed vocal cord pharyngeal distal myopathy (VCPDM). To begin to understand how mutations in MATR3 may cause disease, here we provi
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::347b78865295551f262bc4fe81f9c201
http://europepmc.org/articles/PMC6299607
http://europepmc.org/articles/PMC6299607
Autor:
Colin Duffy, Simon D'Alton, Mariela Cabrera, John Howard, Carolina Gallego-Iradi, Abigail R. Hernandez, David R. Borchelt, Keith Crosby, Sruti Rayaprolu, Christina Moloney, Zoe Siemienski, Jada Lewis
Publikováno v:
Journal of Comparative Neurology. 524:2740-2752
Mutations in the MATR3 gene encoding the nucleotide binding protein Matrin 3 have recently been identified as causing a subset of familial amyotrophic lateral sclerosis (fALS) and more rarely causing distal myopathy. Translating the identification of
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::6e4dce83b4fe786b38162e6c32a91f2a
https://doi.org/10.1002/cne.23986
https://doi.org/10.1002/cne.23986
Autor:
Zoe Siemienski, Jada Lewis, Dave Miller, David R. Borchelt, John Howard, Hilda Brown, Lucia Notterpek, Sruti Rayaprolu, Christina Moloney, Mariela Cabrera, Maurice S. Swanson, Matt Collins, Colin Duffy, Susan Fromholt
Publikováno v:
Acta Neuropathologica Communications, Vol 5, Iss 1, Pp 1-1 (2017)
Acta Neuropathologica Communications
Acta Neuropathologica Communications
Amyotrophic lateral sclerosis (ALS) is a progressive neurodegenerative disorder of upper and lower motor neurons. Mutations in the gene encoding the nuclear matrix protein Matrin 3 have been found in familial cases of ALS, as well as autosomal domina
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6d8ad3be886717733f148eb0b2b6211d
http://link.springer.com/article/10.1186/s40478-017-0502-0
http://link.springer.com/article/10.1186/s40478-017-0502-0
Autor:
Sruti, Rayaprolu, Simon, D'Alton, Keith, Crosby, Christina, Moloney, John, Howard, Colin, Duffy, Mariela, Cabrera, Zoe, Siemienski, Abigail R, Hernandez, Carolina, Gallego-Iradi, David R, Borchelt, Jada, Lewis
Publikováno v:
The Journal of comparative neurology. 524(14)
Mutations in the MATR3 gene encoding the nucleotide binding protein Matrin 3 have recently been identified as causing a subset of familial amyotrophic lateral sclerosis (fALS) and more rarely causing distal myopathy. Translating the identification of
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::7e3392f81bea97361785deefd96e16b4
https://pubmed.ncbi.nlm.nih.gov/26878116
https://pubmed.ncbi.nlm.nih.gov/26878116