Area of research
Molecular Biology · Genetics
Research interest
Research focused on Muscular dystrophy and Cilium, with related work in Limb-girdle muscular dystrophy, Duchenne muscular dystrophy, Dystrophin. Notable publications include 'An organelle-specific protein landscape identifies novel diseases and molecular mechanisms', 'Mutations in GDP-Mannose Pyrophosphorylase B Cause Congenital and Limb-Girdle Muscular Dystrophies Associated with Hypoglycosylation of α-Dystroglycan', and 'ISPD loss-of-function mutations disrupt dystroglycan O-mannosylation and cause Walker-Warburg syndrome'.
TCTEX1D1 is a genetic modifier of disease progression in Duchenne muscular dystrophy
X-linked primary ciliary dyskinesia due to mutations in the cytoplasmic axonemal dynein assembly factor PIH1D3
An organelle-specific protein landscape identifies novel diseases and molecular mechanisms
<i>DMD</i> genotypes and loss of ambulation in the CINRG Duchenne Natural History Study
CCDC115 Deficiency Causes a Disorder of Golgi Homeostasis with Abnormal Protein Glycosylation
Deep RNA profiling identified CLOCK and molecular clock genes as pathophysiological signatures in collagen VI myopathy
Micro RNA profile associated with the dystrophin level in Becker muscular dystrophy
Affinity proteomics within rare diseases: a BIO‐NMD study for blood biomarkers of muscular dystrophies
Validation of genetic modifiers for Duchenne muscular dystrophy: a multicentre study assessing<i>SPP1</i>and<i>LTBP4</i>variants
Unraveling the genetic landscape of autosomal recessive Charcot-Marie-Tooth neuropathies using a homozygosity mapping approach
Mutations in GDP-Mannose Pyrophosphorylase B Cause Congenital and Limb-Girdle Muscular Dystrophies Associated with Hypoglycosylation of α-Dystroglycan
Mutations in B3GALNT2 Cause Congenital Muscular Dystrophy and Hypoglycosylation of α-Dystroglycan
Dystromirs as Serum Biomarkers for Monitoring the Disease Severity in Duchenne Muscular Dystrophy
Congenital myopathies – Clinical features and frequency of individual subtypes diagnosed over a 5-year period in the United Kingdom
ISPD gene mutations are a common cause of congenital and limb-girdle muscular dystrophies
ISPD loss-of-function mutations disrupt dystroglycan O-mannosylation and cause Walker-Warburg syndrome
Mutations in MYH7 cause Multi-minicore Disease (MmD) with variable cardiac involvement
S.P.40 BIO-NMD: Identifying serum miRNAs as biomarkers for diagnosis and monitoring therapeutic interventions in Duchenne Muscular Dystrophy
G.O.4 Search for SNPs modifiers in DMD with different corticosteroids response by candidate genes targeted resequencing