Area of research
Neurology · Radiology, Nuclear Medicine and Imaging
Research interest
Research interests include Medicine, Amyotrophic lateral sclerosis, Biology, Spinal muscular atrophy, Genetics, and Exome sequencing.
Motor phenotypes of amyotrophic lateral sclerosis – a three-determinant anatomical classification based on the region of onset, propagation of motor symptoms, and the degree of upper and lower motor neuron dysfunction
Long-term efficacy and safety of nusinersen in adults with 5q spinal muscular atrophy: a prospective European multinational observational study
Clinical Effectiveness of Newborn Screening for Spinal Muscular Atrophy
Digenic inheritance involving a muscle-specific protein kinase and the giant titin protein causes a skeletal muscle myopathy
Serum neurofilament light chain in distinct phenotypes of amyotrophic lateral sclerosis: A longitudinal, multicenter study
104-week efficacy and safety of cipaglucosidase alfa plus miglustat in adults with late-onset Pompe disease: a phase III open-label extension study (ATB200-07)
Safety and Effectiveness of Long-term Intravenous Administration of Edaravone for Treatment of Patients With Amyotrophic Lateral Sclerosis
Effect of nusinersen on motor, respiratory and bulbar function in early-onset spinal muscular atrophy
F28 Novel mutations and findings in a cohort of McLeod neuroacanthocytosis, an X-linked HD phenocopy
Sequential targeted exome sequencing of 1001 patients affected by unexplained limb-girdle weakness
Loss of Neurological Disease HSAN-I-Associated Gene SPTLC2 Impairs CD8+ T Cell Responses to Infection by Inhibiting T Cell Metabolic Fitness
Safety and efficacy of eculizumab in anti-acetylcholine receptor antibody-positive refractory generalised myasthenia gravis (REGAIN): a phase 3, randomised, double-blind, placebo-controlled, multicentre study
<i>De novo PMP2</i>mutations in families with type 1 Charcot–Marie–Tooth disease
Periphere Nervenübererregbarkeit – Krampf-Faszikulationssyndrom, Neuromyotonie und Morvan Syndrom
Loss-of-function mutations in HINT1 cause axonal neuropathy with neuromyotonia