Area of research
Physiology · Genetics
Research interest
Research focused on Neuronal ceroid lipofuscinosis and Genetics, with related work in Spinal muscular atrophy, Exome sequencing, Optineurin. Notable publications include 'Exome sequencing in amyotrophic lateral sclerosis identifies risk genes and pathways', 'Nusinersen initiated in infants during the presymptomatic stage of spinal muscular atrophy: Interim efficacy and safety results from the Phase 2 NURTURE study', and 'Practical murine hematopathology: a comparative review and implications for research'.
Nusinersen initiated in infants during the presymptomatic stage of spinal muscular atrophy: Interim efficacy and safety results from the Phase 2 NURTURE study
Neurofilament as a potential biomarker for spinal muscular atrophy
Individuals with progranulin haploinsufficiency exhibit features of neuronal ceroid lipofuscinosis
Exome sequencing in amyotrophic lateral sclerosis identifies risk genes and pathways
Practical murine hematopathology: a comparative review and implications for research.
PubMed 2015cited by 271position: middle
Neuronal ceroid lipofuscinosis with DNAJC5/CSPα mutation has PPT1 pathology and exhibit aberrant protein palmitoylation
Redefining the MED13L syndrome
Human iPSC models of neuronal ceroid lipofuscinosis capture distinct effects of TPP1 and CLN3 mutations on the endocytic pathway
Cathepsin F mutations cause Type B Kufs disease, an adult-onset neuronal ceroid lipofuscinosis
Mutations in the Gene DNAJC5 Cause Autosomal Dominant Kufs Disease in a Proportion of Cases: Study of the Parry Family and 8 Other Families