Published in Hum Genet on December 01, 1991
The development of mitochondrial medicine. Proc Natl Acad Sci U S A (1994) 1.68
Heterogeneous tissue distribution of a mitochondrial DNA polymorphism in heteroplasmic subjects without mitochondrial disorders. J Med Genet (2001) 0.89
The role of genetics in stroke. Postgrad Med J (2007) 0.86
Affection of the Respiratory Muscles in Combined Complex I and IV Deficiency. Open Neurol J (2017) 0.75
Diabetes insipidus, diabetes mellitus, optic atrophy and deafness (DIDMOAD) caused by mutations in a novel gene (wolframin) coding for a predicted transmembrane protein. Hum Mol Genet (1998) 2.79
The phenotypic spectrum of CADASIL: clinical findings in 102 cases. Ann Neurol (1998) 2.72
MesP1 drives vertebrate cardiovascular differentiation through Dkk-1-mediated blockade of Wnt-signalling. Nat Cell Biol (2008) 2.55
MITOP, the mitochondrial proteome database: 2000 update. Nucleic Acids Res (2000) 2.43
Population genetics and disease susceptibility: characterization of central European haplogroups by mtDNA gene mutations, correlation with D loop variants and association with disease. Hum Mol Genet (1997) 2.12
Centrotemporal spikes in families with rolandic epilepsy: linkage to chromosome 15q14. Neurology (1998) 2.10
[Ocular myasthenia gravis]. Ophthalmologe (2013) 2.00
Cerebrovascular reactivity is impaired in patients with cardiac failure. Eur Heart J (2000) 1.98
Prospective memory in patients with juvenile myoclonic epilepsy and their healthy siblings. Neurology (2010) 1.78
A selective defect of cytochrome c oxidase is present in brain of Alzheimer disease patients. Neurobiol Aging (2000) 1.78
MELAS associated with mutations in the POLG1 gene. Neurology (2007) 1.77
Functional motor compensation in amyotrophic lateral sclerosis. J Neurol (2005) 1.67
Loss-of-function mutations of SURF-1 are specifically associated with Leigh syndrome with cytochrome c oxidase deficiency. Ann Neurol (1999) 1.63
Resistance to activated protein C (APCR) in children with venous or arterial thromboembolism. Br J Haematol (1996) 1.61
Molecular basis of AMP deaminase deficiency in skeletal muscle. Proc Natl Acad Sci U S A (1992) 1.61
Gastrointestinal dysfunction in amyotrophic lateral sclerosis. Amyotroph Lateral Scler Other Motor Neuron Disord (1999) 1.60
Treatment of childhood migraine attacks with oral zolmitriptan and ibuprofen. Neurology (2006) 1.59
MITOP: database for mitochondria-related proteins, genes and diseases. Nucleic Acids Res (1999) 1.49
Neuropsychological, intellectual, and behavioral findings in patients with centrotemporal spikes with and without seizures. Dev Med Child Neurol (1997) 1.47
Mutations in SCO2 are associated with a distinct form of hypertrophic cardiomyopathy and cytochrome c oxidase deficiency. Hum Mol Genet (2000) 1.44
Inflammatory demyelinating neuropathy in patients with end-stage renal disease receiving continuous ambulatory peritoneal dialysis (CAPD) Perit Dial Int (1998) 1.43
Magnetic resonance imaging of normal and pathological white matter maturation. Pediatr Radiol (1988) 1.43
Association of copper to metallothionein in hepatic lysosomes of Long-Evans cinnamon (LEC) rats during the development of hepatitis [se e comments]. Eur J Clin Invest (1998) 1.42
Coenzyme Q10 deficiency and isolated myopathy. Neurology (2006) 1.32
Proximal myotonic myopathy: a new dominant disorder with myotonia, muscle weakness, and cataracts. Neurology (1994) 1.31
High-dose immunoglobulin therapy in sporadic inclusion body myositis: a double-blind, placebo-controlled study. J Neurol (2000) 1.30
High dose vitamin E therapy in amyotrophic lateral sclerosis as add-on therapy to riluzole: results of a placebo-controlled double-blind study. J Neural Transm (Vienna) (2004) 1.26
Limbic encephalitis in children and adolescents. Arch Dis Child (2010) 1.26
Rapsyn N88K is a frequent cause of congenital myasthenic syndromes in European patients. Neurology (2003) 1.24
Cytochrome c oxidase deficiency due to mutations in SCO2, encoding a mitochondrial copper-binding protein, is rescued by copper in human myoblasts. Hum Mol Genet (2001) 1.24
Differential expression of perforin in muscle-infiltrating T cells in polymyositis and dermatomyositis. J Clin Invest (1996) 1.24
FKRP (826C>A) frequently causes limb-girdle muscular dystrophy in German patients. J Med Genet (2004) 1.24
Use of complementary and alternative medicine in patients suffering from primary headache disorders. Cephalalgia (2009) 1.21
Magnesium deficiency induces joint cartilage lesions in juvenile rats which are identical to quinolone-induced arthropathy. Antimicrob Agents Chemother (1995) 1.20
O-(2-[18F]fluorethyl)-L-tyrosine PET in the clinical evaluation of primary brain tumours. Eur J Nucl Med Mol Imaging (2005) 1.20
Rupture of splenic artery aneurysm in a pregnant patient with portal hypertension. Am J Obstet Gynecol (1996) 1.19
Small in-frame deletions and missense mutations in CADASIL: 3D models predict misfolding of Notch3 EGF-like repeat domains. Eur J Hum Genet (2000) 1.17
Evidence for a mitochondrial oxidative phosphorylation defect in brains from patients with schizophrenia. Schizophr Res (2001) 1.14
Features of mtDNA mutation patterns in European pedigrees and sporadic cases with Leber hereditary optic neuropathy. Am J Hum Genet (1994) 1.14
The point mutation of mitochondrial DNA characteristic for MERRF disease is found also in healthy people of different ages. FEBS Lett (1993) 1.13
Mapping of heteroplasmic mitochondrial DNA deletions in Kearns-Sayre syndrome. Nucleic Acids Res (1989) 1.13
Leukodystrophy incidence in Germany. Am J Med Genet (1997) 1.12
Regulatory properties of a mutant carnitine palmitoyltransferase in human skeletal muscle. Eur J Biochem (1985) 1.11
Testicular dysfunction in adrenomyeloneuropathy. Eur J Endocrinol (1997) 1.11
Genetic and structural characterization of the human mitochondrial inner membrane translocase. J Mol Biol (1999) 1.08
Method for rapid quantitation and characterization of insulin antibodies. Clin Chem (1978) 1.08
Identification of seven novel mutations in the GAN gene. Hum Mutat (2003) 1.07
Human aging is associated with stochastic somatic mutations of mitochondrial DNA. Mutat Res (1995) 1.07
Proximal myotonic myopathy. Clinical features of a multisystem disorder similar to myotonic dystrophy. Arch Neurol (1995) 1.06
Puusepp's sign--clinical significance of a forgotten pyramidal sign. Clin Neurol Neurosurg (2009) 1.06
Decreased aminoacylation of mutant tRNAs in MELAS but not in MERRF patients. Hum Mol Genet (2000) 1.05
Ternary complexes of Escherichia coli aminoacyl-tRNAs with the elongation factor Tu and GTP: thermodynamic and structural studies. Biochim Biophys Acta (1990) 1.05
Human aging is associated with various point mutations in tRNA genes of mitochondrial DNA. Biol Chem Hoppe Seyler (1993) 1.04
Subtle cognitive dysfunction in adult onset myotonic dystrophy type 1 (DM1) and type 2 (DM2). Neurology (2006) 1.04
Wolfram (DIDMOAD) syndrome and Leber hereditary optic neuropathy (LHON) are associated with distinct mitochondrial DNA haplotypes. Genomics (1997) 1.04
Pancreatic hamartoma: a benign tumor of the pancreas. Am J Gastroenterol (1994) 1.04
Different mechanisms inferred from sequences of human mitochondrial DNA deletions in ocular myopathies. Nucleic Acids Res (1991) 1.03
KCNQ2 and KCNQ3 mutations contribute to different idiopathic epilepsy syndromes. Neurology (2008) 1.03
Screening for carnitine palmitoyltransferase II deficiency by tandem mass spectrometry. J Inherit Metab Dis (2002) 1.03
A systematic mutation screen of 10 nuclear and 25 mitochondrial candidate genes in 21 patients with cytochrome c oxidase (COX) deficiency shows tRNA(Ser)(UCN) mutations in a subgroup with syndromal encephalopathy. J Med Genet (1998) 1.03
Altered pattern of insulin receptor isotypes in skeletal muscle membranes of type 2 (non-insulin-dependent) diabetic subjects. Diabetologia (1993) 1.03
Focal deficiency of cytochrome-c-oxidase in skeletal muscle of patients with progressive external ophthalmoplegia. Cytochemical-fine-structural study. Virchows Arch A Pathol Anat Histopathol (1983) 1.03
Sensory ataxic neuropathy due to a novel C10Orf2 mutation with probable germline mosaicism. Neurology (2005) 1.02
Different sensitivity of rabbit heart and skeletal muscle to endotoxin-induced impairment of mitochondrial function. Eur J Biochem (2001) 1.02
Distinct alpha-subunit structures of human insulin receptor A and B variants determine differences in tyrosine kinase activities. Biochemistry (1992) 1.02
Quinolones in children. Are concerns over arthropathy justified? Drug Saf (1993) 1.02
[Granular body myopathy (so-called reducing body myopathy)]. Pathologe (1982) 1.01
Evidence for genetic heterogeneity of malignant hyperthermia susceptibility. Am J Hum Genet (1992) 1.01
Recurrent orbital myositis: report of a familial incidence. Arch Neurol (1999) 1.01
External ophthalmoplegia due to ocular myositis in a patient with ophthalmic herpes zoster. Neuromuscul Disord (2004) 1.01
Missense mutations of ACTA1 cause dominant congenital myopathy with cores. J Med Genet (2004) 1.00
Detection of humoral rejection in human cardiac allografts by assessing the capillary deposition of complement fragment C4d in endomyocardial biopsies. J Heart Lung Transplant (1999) 1.00
Pseudohypoparathyroidism and hypocalcemic "myopathy". A case report. Klin Wochenschr (1981) 0.99
Chondrotoxicity and toxicokinetics of sparfloxacin in juvenile rats. Antimicrob Agents Chemother (1998) 0.99
Fatal lipid storage myopathy with deficiency of cytochrome-c-oxidase and carnitine. A contribution to the combined cytochemical-finestructural identification of cytochrome-c-oxidase in longterm frozen muscle. Virchows Arch A Pathol Anat Histopathol (1983) 0.99
Efficacy and tolerability of tropisetron in primary fibromyalgia--a highly selective and competitive 5-HT3 receptor antagonist. German Fibromyalgia Study Group. Scand J Rheumatol Suppl (2000) 0.98
C19orf12 mutations in neurodegeneration with brain iron accumulation mimicking juvenile amyotrophic lateral sclerosis. J Neurol (2012) 0.98
Dystonia in neurodegeneration with brain iron accumulation: outcome of bilateral pallidal stimulation. Brain (2010) 0.98
[Kohlschütter syndrome--an example of a rare progressive neuroectodermal disease. Case report and review of the literature]. Klin Padiatr (1997) 0.98
The forgotten condyle: Delayed hypoglossal nerve palsy caused by fracture of the occipital condyle. Clin Neurol Neurosurg (1998) 0.98
Adult-onset glycogen storage disease type 2: clinico-pathological phenotype revisited. Neuropathol Appl Neurobiol (2007) 0.98
Endocrine abnormalities in mitochondrial myopathy with external ophthalmoplegia. Clin Investig (1992) 0.97
Prevention by protein kinase C inhibitors of glucose-induced insulin-receptor tyrosine kinase resistance in rat fat cells. Diabetes (1991) 0.97
Screening for mitochondrial DNA (mtDNA) point mutations using nonradioactive single strand conformation polymorphism (SSCP) analysis. Clin Biochem (1995) 0.97
A common mutation (epsilon1267delG) in congenital myasthenic patients of Gypsy ethnic origin. Neurology (1999) 0.97
Cardiac involvement in limb-girdle muscular dystrophy 2I : conventional cardiac diagnostic and cardiovascular magnetic resonance. J Neurol (2006) 0.97
Specific glycation of albumin depends on its half-life. Clin Chem (1993) 0.96
Nemaline cardiomyopathy in a young adult: an ultraimmunohistochemical study and review of the literature. Ultrastruct Pathol (2001) 0.96
Concentrations of lamotrigine in a mother on lamotrigine treatment and her newborn child. Eur J Clin Pharmacol (1997) 0.96
Genomic structure and mutational spectrum of the bicistronic MOCS1 gene defective in molybdenum cofactor deficiency type A. Hum Genet (1998) 0.95
Progressive myoclonus epilepsy and mitochondrial myopathy associated with mutations in the tRNA(Ser(UCN)) gene. Ann Neurol (1998) 0.95