G. Kurlemann
Klinik und Poliklinik für Kinder- und Jugendmedizin(DE)
Publications by Year
Research Areas
Mitochondrial Function and Pathology, Neurological diseases and metabolism, Epilepsy research and treatment, Cardiac electrophysiology and arrhythmias, Ion channel regulation and function
Most-Cited Works
- → Mutations in SEPT9 cause hereditary neuralgic amyotrophy(2005)260 cited
- → Identification of seven novel mutations in theGAN gene(2003)50 cited
- → Uniparental disomy with normal phenotype(1992)36 cited
- → A specific point mutation in the mitochondrial genome of Caucasians with MELAS(1991)34 cited
- → KCNQ3 and KCNQ2 mutations contribute to rare and common forms of idiopathic epilepsy(2006)1 cited
- → Deletionen im mitochondrialen Genom als genetische Marker bei chronisch-progressiver externer Ophthalmoplegie und Kearns-Sayre-Syndrom(1990)
- → A novel ACTA- 1 mutation in a child with Nemaline Myopathy and reduced acid alpha-glucosidase activity(2008)
- → Ciliopathies with Hepatic Involvement the Broad Phenotypical Spectrum of TMEM67 Mutations(2015)
- → Evolution of a channelopathy, CACNA1 mutation in a young man(2013)
- → Hereditary sensory and autonomic neuropathy Type IV – a case report with detection of two previously unknown sequence variants in NTKR1 gene(2011)