Area of research
Molecular Biology · Clinical Biochemistry
Research interest
Research focused on Muscular dystrophy and Methylenetetrahydrofolate reductase, with related work in Valproic Acid, Dynein, Limb-girdle muscular dystrophy. Notable publications include 'Recessive TRAPPC11 Mutations Cause a Disease Spectrum of Limb Girdle Muscular Dystrophy and Myopathy with Movement Disorder and Intellectual Disability', 'Clinical pattern, mutations and in vitro residual activity in 33 patients with severe 5, 10 methylenetetrahydrofolate reductase (MTHFR) deficiency', and 'Clinical trial of L‐Carnitine and valproic acid in spinal muscular atrophy type I'.
The expanding clinical and genetic spectrum of <i>DYNC1H1</i>-related disorders
Clinical trial of L‐Carnitine and valproic acid in spinal muscular atrophy type I
Clinical pattern, mutations and in vitro residual activity in 33 patients with severe 5, 10 methylenetetrahydrofolate reductase (MTHFR) deficiency
Recessive TRAPPC11 Mutations Cause a Disease Spectrum of Limb Girdle Muscular Dystrophy and Myopathy with Movement Disorder and Intellectual Disability