Published in Annu Rev Med on January 01, 1999
Disordered lipid metabolism and the pathogenesis of insulin resistance. Physiol Rev (2007) 6.53
Local translation of extranuclear lamin B promotes axon maintenance. Cell (2012) 1.79
Modifier genes for hypertrophic cardiomyopathy. Curr Opin Cardiol (2002) 1.47
Mitochondrial "swirls" induced by oxygen stress and in the Drosophila mutant hyperswirl. Proc Natl Acad Sci U S A (2004) 1.41
Mitochondrial involvement in psychiatric disorders. Ann Med (2008) 1.38
Genetic determinants of cardiac hypertrophy. Curr Opin Cardiol (2008) 1.35
Creatine and its potential therapeutic value for targeting cellular energy impairment in neurodegenerative diseases. Neuromolecular Med (2008) 1.10
Mitochondrial DNA haplogroups and mutations in children with acquired central demyelination. Neurology (2011) 1.10
Neuropathology in Drosophila mutants with increased seizure susceptibility. Genetics (2008) 1.03
Molecular genetics and pathogenesis of hypertrophic cardiomyopathy. Minerva Med (2001) 1.00
Molecular and genomic studies of IMMP2L and mutation screening in autism and Tourette syndrome. Mol Genet Genomics (2006) 0.95
Rapamycin drives selection against a pathogenic heteroplasmic mitochondrial DNA mutation. Hum Mol Genet (2013) 0.89
A heteroplasmic mitochondrial complex I gene mutation in adult-onset dystonia. Neurogenetics (2003) 0.84
Analysis of mitochondrial DNA sequences in childhood encephalomyopathies reveals new disease-associated variants. PLoS One (2007) 0.81
Association of upregulated activity of K(ATP) channels with impaired insulin secretion in UCP1-expressing insulinoma cells. J Physiol (2002) 0.80
An autopsy case of chronic progressive external ophthalmoplegia with renal insufficiency. Med Mol Morphol (2008) 0.78
Mitochondrial DNA sequence variation in multiple sclerosis. Neurology (2015) 0.76
Analysis of mitochondrial DNA variations in Indian patients with congenital cataract. Mol Vis (2012) 0.76
Diagnostic value of mitochondrial DNA mutation analysis in juvenile unilateral ptosis. Graefes Arch Clin Exp Ophthalmol (2004) 0.75
Loss of protoheme IX farnesyltransferase in mature dentate granule cells impairs short term plasticity onto CA3 pyramidal cells. J Physiol (2017) 0.75
Alteration in the natural history of neurosyphilis by concurrent infection with the human immunodeficiency virus. N Engl J Med (1987) 4.10
Mutation in the gene encoding the stimulatory G protein of adenylate cyclase in Albright's hereditary osteodystrophy. N Engl J Med (1990) 3.09
Phosphorus magnetic resonance spectroscopy of patients with mitochondrial cytopathies demonstrates decreased levels of brain phosphocreatine. Ann Neurol (1990) 2.24
Respiration and growth defects in transmitochondrial cell lines carrying the 11778 mutation associated with Leber's hereditary optic neuropathy. J Biol Chem (1996) 1.71
Heteroplasmy in Leber's hereditary optic neuropathy. Arch Ophthalmol (1993) 1.51
Oculomotor nerve and muscle abnormalities in congenital fibrosis of the extraocular muscles. Ann Neurol (1997) 1.49
Optic nerve sheath distention in Leber's optic neuropathy and the significance of the "Wallace mutation". J Clin Neuroophthalmol (1990) 1.43
Myotonia in colchicine myoneuropathy. Muscle Nerve (1996) 1.43
Visual recovery in patients with Leber's hereditary optic neuropathy and the 11778 mutation. J Clin Neuroophthalmol (1992) 1.30
Leber's hereditary optic neuropathy masquerading as tobacco-alcohol amblyopia. Arch Ophthalmol (1993) 1.30
Smoking as an aetiological factor in a pedigree with Leber's hereditary optic neuropathy. Br J Ophthalmol (1999) 1.15
Benign sexual headache within a family. Arch Neurol (1986) 1.10
Identical mitochondrial DNA deletion in blood and muscle. Lancet (1989) 1.09
Association of the 11778 mitochondrial DNA mutation and demyelinating disease. Neurology (1993) 1.08
Familial multisystem degeneration with parkinsonism associated with the 11778 mitochondrial DNA mutation. Neurology (1999) 1.05
Mitochondrial DNA mutations in complex I and tRNA genes in Parkinson's disease. Neurology (2000) 1.04
Polymyositis with cytochrome oxidase negative muscle fibres. Early quadriceps weakness and poor response to immunosuppressive therapy. Brain (1997) 1.04
Improved molecular-genetic diagnosis of Leber's hereditary optic neuropathy. N Engl J Med (1990) 1.02
Mitochondrial leucine tRNA mutation in neurological diseases. Lancet (1991) 1.00
Neuro-ophthalmologic manifestations of mitochondrial DNA disorders: chronic progressive external ophthalmoplegia, Kearns-Sayre syndrome, and Leber's hereditary optic neuropathy. Neurol Clin (1991) 0.98
Mitochondrial dysfunction and neuromuscular disease. Muscle Nerve (2001) 0.98
Low mutational burden of individual acquired mitochondrial DNA mutations in brain. Genomics (2001) 0.97
Sensory ataxic neuropathy as the presenting feature of a novel mitochondrial disease. Neurology (1997) 0.95
Dystrophin analysis in clonal myoblasts derived from a Duchenne muscular dystrophy carrier. Am J Hum Genet (1989) 0.92
Ocular clinicopathologic study of the mitochondrial encephalomyopathy overlap syndromes. Arch Ophthalmol (1993) 0.91
Atypical Leber's hereditary optic neuropathy with molecular confirmation. Arch Neurol (1993) 0.90
MR of the brain in mitochondrial myopathy. AJNR Am J Neuroradiol (1995) 0.89
Heteroplasmy in chronic external ophthalmoplegia: clinical and molecular observations. Pediatr Res (1990) 0.88
Rapid response to acyclovir in herpes zoster-associated encephalitis. Am J Med (1987) 0.87
Mutational scanning of mitochondrial DNA by two-dimensional electrophoresis. Genomics (1998) 0.86
The molecular genetics of Leber's hereditary optic neuropathy. Arch Ophthalmol (1990) 0.85
Clinical spectrum of mitochondrial diseases. Semin Neurol (1996) 0.85
A maculopathy associated with the 15257 mitochondrial DNA mutation. Arch Ophthalmol (1993) 0.84
Allelic mutations of the fourth subunit of NADH dehydrogenase are not pathogenetically important in 11778-negative Leber hereditary optic neuropathy. Am J Hum Genet (1991) 0.81
Expanding the phenotype of the 8344 transfer RNAlysine mitochondrial DNA mutation. Neurology (1998) 0.81
Corneal decompensation in mitochondrial ophthalmoplegia plus (Kearns-Sayre) syndrome. A clinicopathologic case report. Cornea (1994) 0.81
Dystonia as a presenting feature of the 3243 mitochondrial DNA mutation. Mov Disord (1999) 0.80
Mitochondrial DNA analysis in the Turkish Leber's hereditary optic neuropathy population. Eye (Lond) (2001) 0.80
Multiple mitochondrial DNA deletions in myo-neuro-gastrointestinal encephalopathy syndrome. Am J Ophthalmol (1993) 0.80
Migraine provoked by aspartame. N Engl J Med (1986) 0.80
A frameshift mitochondrial complex I gene mutation in a patient with dystonia and cataracts: is the mutation pathogenic? J Med Genet (2001) 0.79
Mitochondrial neurogastrointestinal encephalomyopathy: diagnosis by rectal biopsy. Am J Surg Pathol (1998) 0.78
Ophthalmic involvement in myo-neuro-gastrointestinal encephalopathy syndrome. Am J Ophthalmol (1992) 0.78
Mitochondrial ND-I mutation in Leber hereditary optic neuropathy. Am J Hum Genet (1992) 0.77
Efficacy of albendazole against Fasciola hepatica in sheep. Aust Vet J (1979) 0.77
Spontaneous arteriovenous fistula of the superficial temporal artery. Surg Neurol (1987) 0.77
Immunohistochemical evidence of indolamine neurons in monkey spinal cord. J Comp Neurol (1982) 0.77
Dystrophin and Duchenne's muscular dystrophy. N Engl J Med (1989) 0.76
Sequence analysis of Hungarian LHON patients not carrying the common primary mutations. J Inherit Metab Dis (2002) 0.76
mtDNA deletions in Kearns-Sayre. Neurology (1990) 0.75
The effects of methyl-5(6)-butyl-2-benzimidazole carbamate (parbendazole) on reproduction in sheep and other animals. 3. Teratological study in ewes in Australia. Cornell Vet (1974) 0.75
Assessment of hyperacusis in Bell's palsy. Ann Intern Med (1986) 0.75
Evaluation of parbendazole as an anthelmintic in sheep. Aust Vet J (1969) 0.75
Bovine vibriosis vaccination: immunity conferred by a single biotype. Aust Vet J (1977) 0.75
Pure motor hemiplegia due to meningovascular neurosyphilis. Arch Neurol (1987) 0.75