PubRank

A M Schaefer

Author PubWeight™ 14.52‹?›

Top papers

Rank Title Journal Year PubWeight™‹?›
1 Mutations of ANT1, Twinkle, and POLG1 in sporadic progressive external ophthalmoplegia (PEO). Neurology 2003 1.43
2 Molecular neuropathology of MELAS: level of heteroplasmy in individual neurones and evidence of extensive vascular involvement. Neuropathol Appl Neurobiol 2006 1.29
3 The cryptocephal gene (ATF4) encodes multiple basic-leucine zipper proteins controlling molting and metamorphosis in Drosophila. Genetics 2000 1.23
4 POLG1, C10ORF2, and ANT1 mutations are uncommon in sporadic progressive external ophthalmoplegia with multiple mitochondrial DNA deletions. Neurology 2006 1.08
5 Mitochondrial DNA deletion in "identical" twin brothers. J Med Genet 2004 1.06
6 Homoplasmy, heteroplasmy, and mitochondrial dystonia. Neurology 2007 1.02
7 RRM2B mutations are frequent in familial PEO with multiple mtDNA deletions. Neurology 2011 1.01
8 A scale to monitor progression and treatment of mitochondrial disease in children. Neuromuscul Disord 2006 1.01
9 Alpha-synuclein pathology and Parkinsonism associated with POLG1 mutations and multiple mitochondrial DNA deletions. Neuropathol Appl Neurobiol 2009 0.90
10 Gastrointestinal tract involvement associated with the 3243A>G mitochondrial DNA mutation. Neurology 2008 0.84
11 No association of the mitochondrial DNA A12308G polymorphism with increased risk of stroke in patients with the A3243G mutation. J Neurol Neurosurg Psychiatry 2004 0.84
12 Prevalence and progression of diabetes in mitochondrial disease. Diabetologia 2007 0.81
13 Catastrophic presentation of mitochondrial disease due to a mutation in the tRNA(His) gene. Neurology 2004 0.79
14 Cytochrome c oxidase deficient muscle fibres: substantial variation in their proportions within skeletal muscles from patients with mitochondrial myopathy. Neuromuscul Disord 2005 0.78
15 Differences on treating children with galactosemia. J Am Diet Assoc 1993 0.75
16 Hematological and serum biochemical profile of farm emus (Dromaius novaehollandiae) at the onset of their breeding season. Poult Sci 2013 0.75
17 MRI characterization of cerebral dysgenesis in maternal PKU. Acta Paediatr Suppl 1994 0.75
18 Nursing measures to maintain foot health. Geriatr Nurs 1982 0.75