A. Löfgren
Publications by Year
Research Areas
Hereditary Neurological Disorders, Genetic Neurodegenerative Diseases, Neurological diseases and metabolism, Mitochondrial Function and Pathology, Cellular Mechanics and Interactions
Most-Cited Works
- → Mutation of POLG is associated with progressive external ophthalmoplegia characterized by mtDNA deletions(2001)833 cited
- → Mitochondrial DNA Polymerase W748S Mutation: A Common Cause of Autosomal Recessive Ataxia with Ancient European Origin(2005)306 cited
- → The Thr124Met mutation in the peripheral myelin protein zero (MPZ) gene is associated with a clinically distinct Charcot–Marie–Tooth phenotype(1999)221 cited
- → Charcot‐Marie‐Tooth Disease: A Clinico‐genetic Confrontation(2008)161 cited
- → Novel missense mutation in the early growth response 2 gene associated with Dejerine–Sottas syndrome phenotype(1999)153 cited
- → Gene dosage imbalances in patients with 46,XY gonadal DSD detected by an in‐house‐designed synthetic probe set for multiplex ligation‐dependent probe amplification analysis(2008)82 cited
- → Linkage and mutation analysis of Charcot‐Marie‐Tooth neuropathy type 2 families with chromosomes 1p35‐p36 and Xq13(1996)81 cited
- → Patient homozygous for a recessive POLG mutation presents with features of MERRF(2003)74 cited
- → Digenic progressive external ophthalmoplegia in a sporadic patient: Recessive mutations inPOLGandC10orf2/Twinkle(2003)64 cited
- → Normal pregnancy after preimplantation DNA diagnosis of a dystrophin gene deletion(1995)60 cited