Zobrazeno 1 - 10
of 58
pro vyhledávání: '"Abraham AC"'
Autor:
Juan M. Godoy-Corchuelo, Zeinab Ali, Jose M. Brito Armas, Aurea B. Martins-Bach, Irene García-Toledo, Luis C. Fernandez-Beltrán, Juan I. Lopez-Carbonero, Pablo Bascunana, Shoshana Spring, Irene Jimenez-Coca, Ramón A. Muñozde Bustillo Alfaro, Maria J. Sanchez-Barrena, Remya R. Nair, Brian J. Nieman, Jason P. Lerch, Karla L. Miller, Hande P. Ozdinler, Elizabeth M.C. Fisher, Thomas J. Cunningham, Abraham Acevedo-Arozena, Silvia Corrochano
Publikováno v:
Neurobiology of Disease, Vol 202, Iss , Pp 106708- (2024)
Externí odkaz:
https://doaj.org/article/418fc08c4bb144dfbd73a56508341368
Autor:
Juan M. Godoy-Corchuelo, Zeinab Ali, Jose M. Brito Armas, Aurea B. Martins-Bach, Irene García-Toledo, Luis C. Fernández-Beltrán, Juan I. López-Carbonero, Pablo Bascuñana, Shoshana Spring, Irene Jimenez-Coca, Ramón A. Muñoz de Bustillo Alfaro, Maria J. Sánchez-Barrena, Remya R. Nair, Brian J. Nieman, Jason P. Lerch, Karla L. Miller, Hande P. Ozdinler, Elizabeth M.C. Fisher, Thomas J. Cunningham, Abraham Acevedo-Arozena, Silvia Corrochano
Publikováno v:
Neurobiology of Disease, Vol 193, Iss , Pp 106437- (2024)
TDP-43 pathology is found in several neurodegenerative disorders, collectively referred to as “TDP-43 proteinopathies”. Aggregates of TDP-43 are present in the brains and spinal cords of >97% of amyotrophic lateral sclerosis (ALS), and in brains
Externí odkaz:
https://doaj.org/article/76599e797bbd49ac8a63e0a6d72160dc
Autor:
Elizabeth M.C. Fisher, Linda Greensmith, Andrea Malaspina, Pietro Fratta, Michael G. Hanna, Giampietro Schiavo, Adrian M. Isaacs, Richard W. Orrell, Thomas J. Cunningham, Abraham Acevedo Arozena
Publikováno v:
Molecular Neurodegeneration, Vol 18, Iss 1, Pp 1-12 (2023)
Abstract Amyotrophic lateral sclerosis is a complex disorder most of which is ‘sporadic’ of unknown origin but approximately 10% is familial, arising from single mutations in any of more than 30 genes. Thus, there are more than 30 familial ALS su
Externí odkaz:
https://doaj.org/article/2784edf2a2f94fa4952e10a07c064167
Autor:
Anny Devoy, Georgia Price, Francesca De Giorgio, Rosie Bunton-Stasyshyn, David Thompson, Samanta Gasco, Alasdair Allan, Gemma F. Codner, Remya R. Nair, Charlotte Tibbit, Ross McLeod, Zeinab Ali, Judith Noda, Alessandro Marrero-Gagliardi, José M. Brito-Armas, Muhammet M. Öztürk, Michelle Simon, Edward O’Neill, Sam Bryce-Smith, Jackie Harrison, Gemma Atkins, Silvia Corrochano, Michelle Stewart, Lydia Teboul, Abraham Acevedo-Arozena, Elizabeth M.C. Fisher, Thomas J. Cunningham
Publikováno v:
iScience, Vol 25, Iss 4, Pp 103999- (2022)
Externí odkaz:
https://doaj.org/article/b6e675c7a1d040dd9354ef6662434d04
Autor:
Anny Devoy, Georgia Price, Francesca De Giorgio, Rosie Bunton-Stasyshyn, David Thompson, Samanta Gasco, Alasdair Allan, Gemma F. Codner, Remya R. Nair, Charlotte Tibbit, Ross McLeod, Zeinab Ali, Judith Noda, Alessandro Marrero-Gagliardi, José M. Brito-Armas, Muhammet M. Öztürk, Michelle Simon, Edward O'Neill, Sam Bryce-Smith, Jackie Harrison, Gemma Atkins, Silvia Corrochano, Michelle Stewart, Lydia Teboul, Abraham Acevedo-Arozena, Elizabeth M.C. Fisher, Thomas J. Cunningham
Publikováno v:
iScience, Vol 24, Iss 12, Pp 103463- (2021)
Summary: Amyotrophic lateral sclerosis/frontotemporal dementia (ALS/FTD) is a fatal neurodegenerative disorder, and continued innovation is needed for improved understanding and for developing therapeutics. We have created next-generation genomically
Externí odkaz:
https://doaj.org/article/5af44f859e954ddaba09b5e693fc05a6
Akademický článek
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Akademický článek
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Autor:
Michelle Stewart, Petrina Lau, Gareth Banks, Rasneer Sonia Bains, Enrico Castroflorio, Peter L. Oliver, Christine L. Dixon, Michael C. Kruer, Dimitri M. Kullmann, Abraham Acevedo-Arozena, Sara E. Wells, Silvia Corrochano, Patrick M. Nolan
Publikováno v:
Disease Models & Mechanisms, Vol 12, Iss 2 (2019)
Loss-of-function mutations in a human AMPA receptor-associated protein, ferric chelate reductase 1-like (FRRS1L), are associated with a devastating neurological condition incorporating choreoathetosis, cognitive deficits and epileptic encephalopathie
Externí odkaz:
https://doaj.org/article/d76387fa133742d3bce48ece5c214c9b
Publikováno v:
Disease Models & Mechanisms, Vol 12, Iss 1 (2019)
A wide range of genetic mouse models is available to help researchers dissect human disease mechanisms. Each type of model has its own distinctive characteristics arising from the nature of the introduced mutation, as well as from the specific change
Externí odkaz:
https://doaj.org/article/b6b515864bb2408f96327a9cb1b8c75f
Autor:
Paul K. Potter, Michael R. Bowl, Prashanthini Jeyarajan, Laura Wisby, Andrew Blease, Michelle E. Goldsworthy, Michelle M. Simon, Simon Greenaway, Vincent Michel, Alun Barnard, Carlos Aguilar, Thomas Agnew, Gareth Banks, Andrew Blake, Lauren Chessum, Joanne Dorning, Sara Falcone, Laurence Goosey, Shelley Harris, Andy Haynes, Ines Heise, Rosie Hillier, Tertius Hough, Angela Hoslin, Marie Hutchison, Ruairidh King, Saumya Kumar, Heena V. Lad, Gemma Law, Robert E. MacLaren, Susan Morse, Thomas Nicol, Andrew Parker, Karen Pickford, Siddharth Sethi, Becky Starbuck, Femke Stelma, Michael Cheeseman, Sally H. Cross, Russell G. Foster, Ian J. Jackson, Stuart N. Peirson, Rajesh V. Thakker, Tonia Vincent, Cheryl Scudamore, Sara Wells, Aziz El-Amraoui, Christine Petit, Abraham Acevedo-Arozena, Patrick M. Nolan, Roger Cox, Anne-Marie Mallon, Steve D. M. Brown
Publikováno v:
Nature Communications, Vol 7, Iss 1, Pp 1-13 (2016)
Random mutagenesis can uncover novel genes involved in phenotypic traits. Here the authors perform a large-scale phenotypic screen on over 100 mouse strains generated by ENU mutagenesis to identify mice with age-related diseases, which they attribute
Externí odkaz:
https://doaj.org/article/fa97ab87303c498f824c8286a0325379