Associated Papers
Deciphering distinct genetic risk factors for FTLD-TDP pathological subtypes via whole-genome sequencing.
Pottier C et al.
Nature Communications, 2025
40280976 (PubMed )
Supplement: 41467_2025_59216_MOESM3_ESM.xlsx › SD26
ALS Identified: two-year findings from a sponsored ALS genetic testing program.
Goutman SA et al.
Annals of Clinical and Translational Neurology, 2024
39044379 (PubMed )
Supplement: ACN3-11-2201-s003.xlsx › ClinGen_VariantClassification
Characterising the Genetic Landscape of Amyotrophic Lateral Sclerosis: A Catalogue and Assessment of Over 1,000 Published Genetic Variants.
McCann EP et al.
Journal of Neuromuscular Diseases, 2023
37638449 (PubMed )
Supplement: jnd-10-jnd230148-s001.xlsx › variant_list
Autophagopathies: from autophagy gene polymorphisms to precision medicine for human diseases.
Grosjean I et al.
Autophagy, 2022
35383530 (PubMed )
Supplement: supplement_1.pdf
Sorting Rare ALS Genetic Variants by Targeted Re-Sequencing Panel in Italian Patients: OPTN, VCP, and SQSTM1 Variants Account for 3% of Rare Genetic Forms.
Pensato V et al.
Journal of Clinical Medicine, 2020
Novel mutation in optineurin causing aggressive ALS+/-frontotemporal dementia.
Feng SM et al.
Annals of Clinical and Translational Neurology, 2019
Genome-wide analyses as part of the international FTLD-TDP whole-genome sequencing consortium reveals novel disease risk factors and increases support for immune dysfunction in FTLD.
Pottier C et al.
Acta Neuropathologica, 2019
ALS Genes in the Genomic Era and their Implications for FTD.
Nguyen HP et al.
Trends in Genetics : Tig, 2018
OPTN p.Met468Arg and ATXN2 intermediate length polyQ extension in families with C9orf72 mediated amyotrophic lateral sclerosis and frontotemporal dementia.
Farhan SMK et al.
American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics : the Official Publication of the International Society of Psychiatric Genetics, 2018
Optineurin in amyotrophic lateral sclerosis: Multifunctional adaptor protein at the crossroads of different neuroprotective mechanisms.
Markovinovic A et al.
Progress in Neurobiology, 2017
Whole-genome sequencing reveals important role for TBK1 and OPTN mutations in frontotemporal lobar degeneration without motor neuron disease.
Pottier C et al.
Acta Neuropathologica, 2015
Amyotrophic lateral sclerosis onset is influenced by the burden of rare variants in known amyotrophic lateral sclerosis genes.
Cady J et al.
Annals of Neurology, 2015
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