Area of research
Neurology · Genetics
Research interest
Research interests include Amyotrophic Lateral Sclerosis Research, Neurogenetic and Muscular Disorders Research, Genetic Neurodegenerative Diseases, and RNA Research and Splicing.
TMEM106B core deposition associates with TDP-43 pathology and is increased in risk SNP carriers for frontotemporal dementia
Poly(GR) interacts with key stress granule factors promoting its assembly into cytoplasmic inclusions
Truncated stathmin-2 is a marker of TDP-43 pathology in frontotemporal dementia
Toward allele-specific targeting therapy and pharmacodynamic marker for spinocerebellar ataxia type 3
Aberrant deposition of stress granule-resident proteins linked to C9orf72-associated TDP-43 proteinopathy
Poly(GP) proteins are a useful pharmacodynamic marker for <i>C9ORF72</i> -associated amyotrophic lateral sclerosis
Phosphorylated neurofilament heavy chain: A biomarker of survival for <scp><i>C9ORF</i></scp><i>72</i>‐associated amyotrophic lateral sclerosis
Abnormal expression of homeobox genes and transthyretin in <i>C9ORF72</i> expansion carriers
Gain of Toxicity from ALS/FTD-Linked Repeat Expansions in C9ORF72 Is Alleviated by Antisense Oligonucleotides Targeting GGGGCC-Containing RNAs
C9ORF72 poly(GA) aggregates sequester and impair HR23 and nucleocytoplasmic transport proteins
Human C9ORF72 Hexanucleotide Expansion Reproduces RNA Foci and Dipeptide Repeat Proteins but Not Neurodegeneration in BAC Transgenic Mice
Novel clinical associations with specific C9ORF72 transcripts in patients with repeat expansions in C9ORF72
Cerebellar c9RAN proteins associate with clinical and neuropathological characteristics of C9ORF72 repeat expansion carriers
Aggregation-prone c9FTD/ALS poly(GA) RAN-translated proteins cause neurotoxicity by inducing ER stress
Antisense transcripts of the expanded C9ORF72 hexanucleotide repeat form nuclear RNA foci and undergo repeat-associated non-ATG translation in c9FTD/ALS