Associated Papers
DNA Methylation Analysis in Monozygotic Twins Discordant for ALS in Blood Cells.
Yazar V et al.
Epigenetics Insights, 2023
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
The 2022 Lady Estelle Wolfson lectureship on neurofilaments.
Petzold A
Journal of Neurochemistry, 2022
Targeted next-generation sequencing study in familial ALS-FTD Portuguese patients negative for C9orf72 HRE.
Gromicho M et al.
Journal of Neurology, 2020
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
A knowledge-based framework for the discovery of cancer-predisposing variants using large-scale sequencing breast cancer data.
Melloni GEM et al.
Breast Cancer Research : Bcr, 2017
28569218 (PubMed )
Supplement: 13058_2017_854_MOESM3_ESM.xlsx › Table_S7
Neurofilaments and Neurofilament Proteins in Health and Disease.
Yuan A et al.
Cold Spring Harbor Perspectives in Biology, 2017
Delineating the genetic heterogeneity of ALS using targeted high-throughput sequencing.
Kenna KP et al.
Journal of Medical Genetics, 2013
23881933 (PubMed )
Supplement: jmedgenet-2013-101795-s1.pdf
Mutations in neurofilament genes are not a significant primary cause of non-SOD1-mediated amyotrophic lateral sclerosis.
Garcia ML et al.
Neurobiology of Disease, 2006
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