Zobrazeno 1 - 3
of 3
pro vyhledávání: '"NIPA1 protein, human"'
Autor:
Rosa Rademakers, Andrew Kertesz, Kimmo J. Hatanpaa, Melissa E. Murray, Michael J. Strong, Neill R. Graff-Radford, Elizabeth Finger, Richard J. Caselli, Ian R. Mackenzie, Kevin B. Boylan, Anna Karydas, Joseph E. Parisi, Manuela Neumann, Thomas G. Beach, David S. Knopman, Bradley F. Boeve, Keith A. Josephs, Bianca Mullen, Ging-Yuek Robin Hsiung, Ronald C. Petersen, Lea T. Grinberg, William W. Seeley, Sandra Weintraub, Michael G. Heckman, Heather Stewart, Matt Baker, Eileen H. Bigio, Zbigniew K. Wszolek, Carol F. Lippa, Marka van Blitterswijk, Charles L. White, Dennis W. Dickson, Leonard Petrucelli, M.-Marsel Mesulam, Patricia H. Brown, Bruce L. Miller, Mariely DeJesus-Hernandez
Publikováno v:
Neurobiology of aging, vol 35, iss 10
Neurobiology of aging
Neurobiology of aging 35(10), 2421.e13-2421.e17 (2014). doi:10.1016/j.neurobiolaging.2014.04.016
Neurobiology of aging
Neurobiology of aging 35(10), 2421.e13-2421.e17 (2014). doi:10.1016/j.neurobiolaging.2014.04.016
Repeat expansions in chromosome 9 open reading frame 72 (C9ORF72) are an important cause of both motor neuron disease (MND) and frontotemporal dementia (FTD). Currently, little is known about factors that could account for the phenotypic heterogeneit
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::25fd968afcfad86eb3ed1ac696f9d49f
https://escholarship.org/uc/item/0c5158p7
https://escholarship.org/uc/item/0c5158p7
Autor:
Thomas Gasser, Philip Van Damme, Max Koppers, R. Jeroen Pasterkamp, Wim Robberecht, Robin Lemmens, Albert C. Ludolph, Hylke M. Blauw, Thomas F. Meyer, Leonard H. van den Berg, Claudia Schulte, Wouter van Rheenen, Jan H. Veldink, Edwin Cuppen, Paul W.J. van Vught, Stefan Waibel
Publikováno v:
Human molecular genetics 21(11), 2497-2502 (2012). doi:10.1093/hmg/dds064
Human Molecular Genetics, 21(11), 2497-2502. Oxford University Press
Human Molecular Genetics, 21(11), 2497-2502. Oxford University Press
Mutations in NIPA1 cause Hereditary Spastic Paraplegia type 6, a neurodegenerative disease characterized by an (upper) motor neuron phenotype. Deletions of NIPA1 have been associated with a higher susceptibility to amyotrophic lateral sclerosis (ALS)
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d66b7752c81532e645d00c531e7229c8
https://pubmed.ncbi.nlm.nih.gov/22378146
https://pubmed.ncbi.nlm.nih.gov/22378146
Autor:
Eric Strengman, Ruben van 't Slot, Peter C. Sapp, Thomas F. Meyer, Anna Birve, Peter M. Andersen, Martin D. Tobin, Max Koppers, Ewout J N Groen, Albert C. Ludolph, Simon Cronin, Sita H. Vermeulen, Claudia Schulte, Jan H. Veldink, André G. Uitterlinden, Robin Lemmens, Paul W.J. van Vught, Thomas Gasser, Lambertus A. Kiemeney, Christiaan G J Saris, Hylke M. Blauw, Leonard H. van den Berg, Frank P. Diekstra, Fernando Rivadeneira, Karol Estrada, Robert H. Brown, Agnieszka Slowik, Barbara Tomik, Louise V. Wain, Russell L. McLaughlin, Dan Rujescu, Michael A. van Es, Albert Hofman, Wim Robberecht, Ammar Al-Chalabi, Wouter van Rheenen, John Landers, Orla Hardiman, Roel A. Ophoff, Stefan Waibel
Publikováno v:
Human Molecular Genetics, 19(20), 4091-4099. Oxford University Press
Human Molecular Genetics, 19, 4091-9
Human Molecular Genetics, 19, 20, pp. 4091-9
Human molecular genetics 19(20), 4091-4099 (2010). doi:10.1093/hmg/ddq323
Human Molecular Genetics, 19, 4091-9
Human Molecular Genetics, 19, 20, pp. 4091-9
Human molecular genetics 19(20), 4091-4099 (2010). doi:10.1093/hmg/ddq323
Contains fulltext : 89076.pdf (Publisher’s version ) (Closed access) Amyotrophic lateral sclerosis (ALS) is a fatal neurodegenerative disease selectively affecting motor neurons in the brain and spinal cord. Recent genome-wide association studies (
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c5051003a389deaa95753dddc4300e6b
https://pure.eur.nl/en/publications/6eb12705-5eec-4ad0-a977-6821c30e85ef
https://pure.eur.nl/en/publications/6eb12705-5eec-4ad0-a977-6821c30e85ef