Marka van Blitterswijk
Mayo Clinic in Florida(US)
Publications by Year
Research Areas
Amyotrophic Lateral Sclerosis Research, Neurogenetic and Muscular Disorders Research, Genetic Neurodegenerative Diseases, Parkinson's Disease Mechanisms and Treatments, Neurological diseases and metabolism
Most-Cited Works
- → Unconventional Translation of C9ORF72 GGGGCC Expansion Generates Insoluble Polypeptides Specific to c9FTD/ALS(2013)1,100 cited
- → Antisense transcripts of the expanded C9ORF72 hexanucleotide repeat form nuclear RNA foci and undergo repeat-associated non-ATG translation in c9FTD/ALS(2013)580 cited
- → Detection of long repeat expansions from PCR-free whole-genome sequence data(2017)425 cited
- → Distinct brain transcriptome profiles in C9orf72-associated and sporadic ALS(2015)413 cited
- → Evidence for an oligogenic basis of amyotrophic lateral sclerosis(2012)344 cited
- → Whole-genome sequencing reveals important role for TBK1 and OPTN mutations in frontotemporal lobar degeneration without motor neuron disease(2015)313 cited
- → NEK1 variants confer susceptibility to amyotrophic lateral sclerosis(2016)285 cited
- → Poly(GP) proteins are a useful pharmacodynamic marker for C9ORF72 -associated amyotrophic lateral sclerosis(2017)266 cited
- → Association between repeat sizes and clinical and pathological characteristics in carriers of C9ORF72 repeat expansions (Xpansize-72): a cross-sectional cohort study(2013)266 cited
- → Truncated stathmin-2 is a marker of TDP-43 pathology in frontotemporal dementia(2020)251 cited