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Neurobiology of Aging
|
July 24, 2018
ALS-associated missense and nonsense TBK1 mutations can both cause loss of kinase function
Martina de Majo, Simon D Topp, Bradley N Smith, et al.
Amyotrophic Lateral Sclerosis & Frontotemporal Degeneration
|
October 5, 2017
July 2017 ENCALS statement on edaravone
Ammar Al-Chalabi, Peter M Andersen, Siddharthan Chandran, et al.
Nucleic Acids Research
|
April 10, 2025
High-throughput screen of 100 000 small molecules in C9ORF72 ALS neurons identifies spliceosome modulators that mobilize G4C2 repeat RNA into nuclear export and repeat associated non-canonical translation
Maartje J Luteijn, Varun Bhaskar, Dominic Trojer, et al.
Nature Communications
|
August 29, 2024
ATAXIN-2 intermediate-length polyglutamine expansions elicit ALS-associated metabolic and immune phenotypes
Renata Vieira de Sá, Emma Sudria-Lopez, Marta Cañizares Luna, et al.
Journal of Medical Genetics
|
April 8, 2014
A blinded international study on the reliability of genetic testing for GGGGCC-repeat expansions in C9orf72 reveals marked differences in results among 14 laboratories
Chizuru Akimoto, Alexander E Volk, Marka van Blitterswijk, et al.
The Journal of Clinical Investigation
|
August 14, 2020
Truncated stathmin-2 is a marker of TDP-43 pathology in frontotemporal dementia
Mercedes Prudencio, Jack Humphrey, Sarah Pickles, et al.
The Lancet. Neurology
|
March 31, 2018
Prognosis for patients with amyotrophic lateral sclerosis: development and validation of a personalised prediction model
Henk-Jan Westeneng, Thomas P A Debray, Anne E Visser, et al.
The Lancet. Neurology
|
March 13, 2012
Frequency of the C9orf72 hexanucleotide repeat expansion in patients with amyotrophic lateral sclerosis and frontotemporal dementia: a cross-sectional study
Elisa Majounie, Alan E Renton, Kin Mok, et al.
Science Translational Medicine
|
May 5, 2017
Mutations in the vesicular trafficking protein annexin A11 are associated with amyotrophic lateral sclerosis
Bradley N Smith, Simon D Topp, Claudia Fallini, et al.
American Journal of Medical Genetics. Part A
|
October 8, 2020
Leukoencephalopathy with calcifications and cysts: Genetic and phenotypic spectrum
Yanick J Crow, Heather Marshall, Gillian I Rice, et al.
Page
of 26
Search research articles
Search
Showing results (241-250 of 255) with videos related to
Sort By:
Page
of 26
Neurobiology of Aging
|
July 24, 2018
ALS-associated missense and nonsense TBK1 mutations can both cause loss of kinase function
Martina de Majo, Simon D Topp, Bradley N Smith, et al.
Amyotrophic Lateral Sclerosis & Frontotemporal Degeneration
|
October 5, 2017
July 2017 ENCALS statement on edaravone
Ammar Al-Chalabi, Peter M Andersen, Siddharthan Chandran, et al.
Nucleic Acids Research
|
April 10, 2025
High-throughput screen of 100 000 small molecules in C9ORF72 ALS neurons identifies spliceosome modulators that mobilize G4C2 repeat RNA into nuclear export and repeat associated non-canonical translation
Maartje J Luteijn, Varun Bhaskar, Dominic Trojer, et al.
Nature Communications
|
August 29, 2024
ATAXIN-2 intermediate-length polyglutamine expansions elicit ALS-associated metabolic and immune phenotypes
Renata Vieira de Sá, Emma Sudria-Lopez, Marta Cañizares Luna, et al.
Journal of Medical Genetics
|
April 8, 2014
A blinded international study on the reliability of genetic testing for GGGGCC-repeat expansions in C9orf72 reveals marked differences in results among 14 laboratories
Chizuru Akimoto, Alexander E Volk, Marka van Blitterswijk, et al.
The Journal of Clinical Investigation
|
August 14, 2020
Truncated stathmin-2 is a marker of TDP-43 pathology in frontotemporal dementia
Mercedes Prudencio, Jack Humphrey, Sarah Pickles, et al.
The Lancet. Neurology
|
March 31, 2018
Prognosis for patients with amyotrophic lateral sclerosis: development and validation of a personalised prediction model
Henk-Jan Westeneng, Thomas P A Debray, Anne E Visser, et al.
The Lancet. Neurology
|
March 13, 2012
Frequency of the C9orf72 hexanucleotide repeat expansion in patients with amyotrophic lateral sclerosis and frontotemporal dementia: a cross-sectional study
Elisa Majounie, Alan E Renton, Kin Mok, et al.
Science Translational Medicine
|
May 5, 2017
Mutations in the vesicular trafficking protein annexin A11 are associated with amyotrophic lateral sclerosis
Bradley N Smith, Simon D Topp, Claudia Fallini, et al.
American Journal of Medical Genetics. Part A
|
October 8, 2020
Leukoencephalopathy with calcifications and cysts: Genetic and phenotypic spectrum
Yanick J Crow, Heather Marshall, Gillian I Rice, et al.
Page
of 26