Area of research
Neurology · Cellular and Molecular Neuroscience
Research interest
Research interests include Hereditary Neurological Disorders, Peripheral Neuropathies and Disorders, Myasthenia Gravis and Thymoma, and Genetic Neurodegenerative Diseases.
Eplontersen for Hereditary Transthyretin Amyloidosis With Polyneuropathy: An Exploratory Analysis of Treatment Effect in Male and Female Patients.
Genotype and phenotype spectrum of Charcot-Marie-Tooth disease due to mutations in SORD
The Effect of Aerobic Exercise Training on Patients with Type III Spinal Muscular Atrophy.
Eculizumab Versus Rituximab for Refractory Antiacetylcholine Receptor Antibody‐Positive Generalized Myasthenia Gravis: A Single‐Center Experience
Eplontersen for Hereditary Transthyretin Amyloidosis With Polyneuropathy
Efficacy and Safety of Avalglucosidase Alfa in Patients With Late-Onset Pompe Disease After 97 Weeks
Genetic landscape of congenital insensitivity to pain and hereditary sensory and autonomic neuropathies
Patients with transthyretin amyloidosis enrolled in THAOS between 2018 and 2021 continue to experience substantial diagnostic delay
Pembrolizumab-induced peripheral nervous system damage: A combination of myositis/ myasthenia overlap syndrome and motor axonal polyneuropathy.
Clinical and genetic profile of patients enrolled in the Transthyretin Amyloidosis Outcomes Survey (THAOS): 14-year update
Genetic pain loss disorders
Sex Differences in Wild-Type Transthyretin Amyloidosis: An Analysis from the Transthyretin Amyloidosis Outcomes Survey (THAOS)
Characteristics of Patients with Hereditary Transthyretin Amyloidosis-Polyneuropathy (ATTRv-PN) in NEURO-TTRansform, an Open-label Phase 3 Study of Eplontersen
Bi-allelic variants in neuronal cell adhesion molecule cause a neurodevelopmental disorder characterized by developmental delay, hypotonia, neuropathy/spasticity
Clinical and Genetic Survey for Charcot-Marie-Tooth Neuropathy Based on the Findings in Turkey, a Country with a High Rate of Consanguineous Marriages
Safety and efficacy of avalglucosidase alfa versus alglucosidase alfa in patients with late-onset Pompe disease (COMET): a phase 3, randomised, multicentre trial
Sex-Related Risk of Cardiac Involvement in Hereditary Transthyretin Amyloidosis
Temporal Trends of Wild-Type Transthyretin Amyloid Cardiomyopathy in the Transthyretin Amyloidosis Outcomes Survey
Patisiran, an RNAi Therapeutic, for Hereditary Transthyretin Amyloidosis
Genome-wide association analyses identify new risk variants and the genetic architecture of amyotrophic lateral sclerosis
Exome Sequence Analysis Suggests that Genetic Burden Contributes to Phenotypic Variability and Complex Neuropathy
Transcriptional regulator PRDM12 is essential for human pain perception
A Drosophila Genetic Resource of Mutants to Study Mechanisms Underlying Human Genetic Diseases
Unraveling the genetic landscape of autosomal recessive Charcot-Marie-Tooth neuropathies using a homozygosity mapping approach
Loss-of-function mutations in HINT1 cause axonal neuropathy with neuromyotonia