Associated Papers
The 2022 Lady Estelle Wolfson lectureship on neurofilaments.
Petzold A
Journal of Neurochemistry, 2022
Individualized Proteogenomics Reveals the Mutational Landscape of Melanoma Patients in Response to Immunotherapy.
Schmitt M et al.
Cancers, 2021
34771574 (PubMed )
Supplement: cancers-13-05411-s001.zip › cancers-1421686_Table_S4.xlsx › Sheet_1
The NGS technology for the identification of genes associated with the ALS. A systematic review.
Pecoraro V et al.
European Journal of Clinical Investigation, 2020
ALS and CHARGE syndrome: a clinical and genetic study.
Ungaro C et al.
Acta Neurologica Belgica, 2018
30317490 (PubMed )
Supplement: 13760_2018_1029_MOESM3_ESM.pdf
Whole exome sequencing in adult-onset hearing loss reveals a high load of predicted pathogenic variants in known deafness-associated genes and identifies new candidate genes.
Lewis MA et al.
Bmc Medical Genomics, 2018
30180840 (PubMed )
Supplement: 12920_2018_395_MOESM15_ESM.xls › Table_S11
Expansion of the classification of FTLD-TDP: distinct pathology associated with rapidly progressive frontotemporal degeneration.
Lee EB et al.
Acta Neuropathologica, 2017
A comprehensive analysis of rare genetic variation in amyotrophic lateral sclerosis in the UK.
Morgan S et al.
Brain : a Journal of Neurology, 2017
XomAnnotate: Analysis of Heterogeneous and Complex Exome- A Step towards Translational Medicine.
Talukder AK et al.
Plos One, 2015
25905921 (PubMed )
Supplement: pone.0123569.s008.xls › BC3_ERR166307
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
Mutation analysis of patients with neuronal intermediate filament inclusion disease (NIFID).
Momeni P et al.
Neurobiology of Aging, 2006
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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