Area of research
Neurology · Molecular Biology
Research interest
Research interests include Muscle Physiology and Disorders, Neurological diseases and metabolism, Myasthenia Gravis and Thymoma, and Inflammatory Myopathies and Dermatomyositis.
Progressive abnormal gait in an adult Jack Russell Terrier with a homozygous frameshift variant in SETX (senataxin).
X-Linked Muscular Dystrophy in a Cat with a Putative Variant in the <i>DMD</i> Gene.
A CNTNAP1 Missense Variant Associated With Laryngeal Paralysis and Polyneuropathy in Young Great Dane Dogs.
Dystrophin-Deficient Muscular Dystrophy in a Family of Shiba Inu Dogs with a Complex Deletion Encompassing <i>DMD</i> Exon 5.
Precision medicine using whole genome sequencing identifies a novel dystrophin (DMD) variant for X-linked muscular dystrophy in a cat.
NDUFS7 variant in dogs with Leigh syndrome and its functional validation in a Drosophila melanogaster model.
Exonisation of an intronic L1 element in the dystrophin gene associated with X-linked muscular dystrophy in a Border Collie dog.
Variants in <i>CLCN1</i> and <i>PDE4C</i> Associated with Muscle Hypertrophy, Dysphagia, and Gait Abnormalities in Young French Bulldogs.
Pathologic Changes in and Immunophenotyping of Polymyositis in the Dutch Kooiker Dog.
Multi-Allelic Mitochondrial DNA Deletions in an Adult Dog with Chronic Weakness, Exercise Intolerance and Lactic Acidemia.
Carbamazepine treatment of myotonia congenita in a cat.
Combination HSCT and intravenous AAV-mediated gene therapy in a canine model proves pivotal for translation of Krabbe disease therapy
Current Classification of Canine Muscular Dystrophies and Identification of New Variants.
Novel COL6A3 frameshift variant in American Staffordshire Terrier dogs with Ullrich-like congenital muscular dystrophy.
A SACS deletion variant in Great Pyrenees dogs causes autosomal recessive neuronal degeneration.
X-linked myotubular myopathy associated with an MTM1 variant in a Maine coon cat.
Tandem duplication within the DMD gene in Labrador retrievers with a mild clinical phenotype
Congenital muscular dystrophy in a dog with a LAMA2 gene deletion.
Muscular dystrophy-dystroglycanopathy in a family of Labrador retrievers with a LARGE1 mutation
Clinical features and outcome of acquired myasthenia gravis in 94 dogs.
Congenital dyserythropoiesis and polymyopathy without cardiac disease in male Labrador retriever littermates.
Krabbe disease successfully treated via monotherapy of intrathecal gene therapy
Krabbe disease successfully treated via monotherapy of intrathecal gene therapy
Juvenile-onset motor polyneuropathy in Siberian cats.
Congenital myasthenic syndrome in Golden Retrievers is associated with a novel COLQ mutation.
A Missense Variant in <i>ALDH5A1</i> Associated with Canine Succinic Semialdehyde Dehydrogenase Deficiency (SSADHD) in the Saluki Dog.
A mutation in MTM1 causes X-Linked myotubular myopathy in Boykin spaniels
Long-term outcome of Miniature Schnauzers with genetically confirmed demyelinating polyneuropathy: 12 cases.
A missense variant in the titin gene in Doberman pinscher dogs with familial dilated cardiomyopathy and sudden cardiac death
AAVrh10 Gene Therapy Ameliorates Central and Peripheral Nervous System Disease in Canine Globoid Cell Leukodystrophy (Krabbe Disease)