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Authors:
Dobson-Stone, Carol
| Luty, Agnes A
| Blair, Ian P
| Fullerton, Janice M
| Halliday, Glenda M
| Schofield, Peter R
| Kwok, John B. J
| Thompson, Elizabeth M
| Blumbergs, Peter
| Brooks, William S
| Short, Cathy L
| Field, Colin D
| Panegyres, Peter K
| Hecker, Jane
| Solski, Jennifer A
Date: 2013
Subject Keyword:
110300 Clinical Sciences
| Frontotemporal dementia
| Amyotrophic lateral sclerosis
| Motor neuron disease
| Corticobasal degeneration
| Tau
| TDP-43
Language: eng
Resource Type: journal article
Identifier: http://hdl.handle.net/1959.14/282516
Description:
Numerous families exhibiting both frontotemporal dementia (FTD) and amyotrophic lateral sclerosis (ALS) have been described, and although many of these have been shown to harbour a repeat expansion in
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Authors:
Couthouis, Julien
| Hart, Michael P
| Kim, Cecilia E
| Frackelton, Edward C
| Solski, Jennifer A
| Williams, Kelly L
| Clay-falcone, Dana
| Elman, Lauren
| McCluskey, Leo
| Greene, Robert
| Hakonarson, Hakon
| Kalb, Robert G
| Erion, Renske
| Lee, Virginia M.Y
| Trojanowski, John Q
| Nicholson, Garth A
| Blair, Ian P
| Bonini, Nancy M
| Van Deerlin, Vivianna M
| Mourelatos, Zissimos
| Shorter, James
| Gitler, Aaron D
| King, Oliver D
| Diaz, Zamia
| Nakaya, Tadashi
| Ibrahim, Fadia
| Kim, Hyung-Jun
| Mojsilovic-petrovic, Jelena
| Panossian, Saarene
Date: 2012
Subject Keyword:
110900 Neurosciences
| 110300 Clinical Sciences
Language: eng
Resource Type: journal article
Identifier: http://hdl.handle.net/1959.14/212817
Description:
Amyotrophic lateral sclerosis (ALS) is a fatal neurodegenerative disease affecting motor neurons. Mutations in related RNA-binding proteins TDP-43, FUS/TLS and TAF15 have been connected to ALS. These
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Date: 2012
Subject Keyword:
110300 Clinical Sciences
| Amyotrophic lateral sclerosis
| Gene
| Mutation
| Optineurin
Language: eng
Resource Type: journal article
Identifier: http://hdl.handle.net/1959.14/213361
Description:
Mutations in the optineurin gene (OPTN) have been reported in rare familial and sporadic amyotrophic lateral sclerosis (ALS) cases. It is yet to be established whether mutations segregate with dominan
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Reviewed:
Date: 2012
Subject Keyword:
110300 Clinical Sciences
| Amyotrophic lateral sclerosis
| Gene
| Mutation
| Valosin-containing protein
Language: eng
Resource Type: journal article
Identifier: http://hdl.handle.net/1959.14/213385
Description:
Amyotrophic lateral sclerosis (ALS) is a fatal neurodegenerative disorder characterized by the progressive loss of motor neurons in the motor cortex, brain stem and spinal cord. Mutations in the valos
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Authors:
Williams, Kelly L
| Warraich, Sadaf T
| Yang, Shu
| Solski, Jennifer A
| Fernando, Ruvini
| Rouleau, Guy A
| Nicholson, Garth A
| Blair, Ian P
Date: 2012
Subject Keyword:
110900 Neurosciences
| Amyotrophic lateral sclerosis
| Exome sequencing
| Mutation
| Ubiquilin 2
| UBQLN2
Language: eng
Resource Type: journal article
Identifier: http://hdl.handle.net/1959.14/213399
Description:
Amyotrophic lateral sclerosis (ALS) shows clinical and pathological overlap with frontotemporal dementia that includes the presence of hallmark ubiquitinated inclusions in affected neurons. Mutations
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Authors:
Couthouis, Julien
| Hart, Michael P
| Epstein, James
| Chiang, Ashley
| Diaz, Zamia
| Nakaya, Tadashi
| Ibrahim, Fadia
| Kim, Hyung-Jun
| Solski, Jennifer A
| Williams, Kelly L
| Mojsilovic-Petrovic, Jelena
| Ingre, Caroline
| Shorter, James
| Boylan, Kevin
| Graff-Radford, Neill R
| Dickson, Dennis W
| Clay-Falcone, Dana
| Elman, Lauren
| McCluskey, Leo
| Greene, Robert
| Kalb, Robert G
| Lee, Virginia M.-Y
| Trojanowski, John Q
| DeJesus-Hernandez, Mariely
| Ludolph, Albert
| Robberecht, Wim
| Andersen, Peter M
| Nicholson, Garth A
| Blair, Ian P
| King, Oliver D
| Bonini, Nancy M
| Van Deerlin, Vivianna
| Rademakers, Rosa
| Mourelatos, Zissimos
| Erion, Renske
| Gitler, Aaron D
| Oristano, Rachel
| Liu, Annie X
| Ramos, Daniel
| Jethava, Niti
| Hosangadi, Divya
Date: 2011
Subject Keyword:
110900 Neurosciences
| 110300 Clinical Sciences
Language: eng
Resource Type: journal article
Identifier: http://hdl.handle.net/1959.14/221934
Description:
Amyotrophic lateral sclerosis (ALS) is a devastating and universally fatal neurodegenerative disease. Mutations in two related RNA-binding proteins, TDP-43 and FUS, that harbor prion-like domains, cau
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