Associated Papers
Identification of diagnostic candidates in Mendelian disorders using an RNA sequencing-centric approach.
Jaramillo Oquendo C et al.
Genome Medicine, 2024
Studies of Genetic and Proteomic Risk Factors of Amyotrophic Lateral Sclerosis Inspire Biomarker Development and Gene Therapy.
Bagyinszky E et al.
Cells, 2023
Z-flipon variants reveal the many roles of Z-DNA and Z-RNA in health and disease.
Umerenkov D et al.
Life Science Alliance, 2023
Multiple roles for the cytoskeleton in ALS.
Liu X et al.
Experimental Neurology, 2022
Short amplicon reverse transcription-polymerase chain reaction detects aberrant splicing in genes with low expression in blood missed by ribonucleic acid sequencing analysis for clinical diagnosis.
Wai HA et al.
Human Mutation, 2022
Targeted next-generation sequencing study in familial ALS-FTD Portuguese patients negative for C9orf72 HRE.
Gromicho M et al.
Journal of Neurology, 2020
Type III intermediate filaments as targets and effectors of electrophiles and oxidants.
Viedma-Poyatos Á et al.
Redox Biology, 2020
Oligogenic genetic variation of neurodegenerative disease genes in 980 postmortem human brains.
Keogh MJ et al.
Journal of Neurology, Neurosurgery, and Psychiatry, 2018
TDP-43 and Cytoskeletal Proteins in ALS.
Oberstadt M et al.
Molecular Neurobiology, 2018
Neurofilaments and Neurofilament Proteins in Health and Disease.
Yuan A et al.
Cold Spring Harbor Perspectives in Biology, 2017
Exome sequencing of a family with lone, autosomal dominant atrial flutter identifies a rare variation in ABCB4 significantly enriched in cases.
Maciąg A et al.
Bmc Genetics, 2015
Genetics of amyotrophic lateral sclerosis: an update.
Chen S et al.
Molecular Neurodegeneration, 2013
Peripherin is a subunit of peripheral nerve neurofilaments: implications for differential vulnerability of CNS and peripheral nervous system axons.
Yuan A et al.
The Journal of Neuroscience : the Official Journal of the Society for Neuroscience, 2012
A novel peripherin gene (PRPH) mutation identified in one sporadic amyotrophic lateral sclerosis patient.
Corrado L et al.
Neurobiology of Aging, 2011
RNA processing pathways in amyotrophic lateral sclerosis.
van Blitterswijk M et al.
Neurogenetics, 2010
Genetics of sporadic amyotrophic lateral sclerosis.
Schymick JC et al.
Human Molecular Genetics, 2007
A frameshift deletion in peripherin gene associated with amyotrophic lateral sclerosis.
Gros-Louis F et al.
The Journal of Biological Chemistry, 2004
A pathogenic peripherin gene mutation in a patient with amyotrophic lateral sclerosis.
Leung CL et al.
Brain Pathology (zurich, Switzerland), 2004
Neuronal intermediate filaments and ALS: a new look at an old question.
Xiao S et al.
Biochimica Et Biophysica Acta, 0