Atle Melberg
Uppsala University Hospital(SE)
Publications by Year
Research Areas
Mitochondrial Function and Pathology, RNA regulation and disease, Genetic Neurodegenerative Diseases, Cardiomyopathy and Myosin Studies, Metabolism and Genetic Disorders
Most-Cited Works
- → Parkinsonism, premature menopause, and mitochondrial DNA polymerase γ mutations: clinical and molecular genetic study(2004)541 cited
- → CSF hypocretin/orexin levels in narcolepsy and other neurological conditions(2001)414 cited
- → Mutations in DNMT1 cause autosomal dominant cerebellar ataxia, deafness and narcolepsy(2012)261 cited
- → Autosomal dominant myofibrillar myopathy with arrhythmogenic right ventricular cardiomyopathy linked to chromosome 10q(1999)125 cited
- → Childhood epilepsy, familial hemiplegic migraine, cerebellar ataxia, and a new CACNA1A mutation(2004)116 cited
- → Hereditary myopathy with early respiratory failure associated with a mutation in A-band titin(2012)108 cited
- → Welander Distal Myopathy Caused by an Ancient Founder Mutation inTIA1Associated with Perturbed Splicing(2013)106 cited
- → POLG1Mutations Associated With Progressive Encephalopathy in Childhood(2006)103 cited
- → Clinical manifestation and a new ISCU mutation in iron–sulphur cluster deficiency myopathy(2009)103 cited
- → Clonal expansion of mitochondrial DNA with multiple deletions in autosomal dominant progressive external ophthalmoplegia(1996)92 cited