Published in J Neurol on March 14, 2008
Metformin activates AMP kinase through inhibition of AMP deaminase. J Biol Chem (2010) 1.76
AMPD1 gene mutations are associated with obesity and diabetes in Polish patients with cardiovascular diseases. J Appl Genet (2010) 0.95
Diagnostic Algorithm for Glycogenoses and Myoadenylate Deaminase Deficiency Based on Exercise Testing Parameters: A Prospective Study. PLoS One (2015) 0.75
[Metabolic myopathies - an overview]. Pathologe (2009) 0.75
Molecular basis of AMP deaminase deficiency in skeletal muscle. Proc Natl Acad Sci U S A (1992) 1.61
Genetic characteristics of myoadenylate deaminase deficiency. Ann Neurol (1998) 1.57
Myoadenylate deaminase deficiency: a new disease of muscle. Science (1978) 1.33
Alternative splicing: a mechanism for phenotypic rescue of a common inherited defect. J Clin Invest (1993) 1.07
Frequency of the C34T mutation of the AMPD1 gene in world-class endurance athletes: does this mutation impair performance? J Appl Physiol (1985) (2005) 1.07
Regulation of skeletal muscle ATP catabolism by AMPD1 genotype during sprint exercise in asymptomatic subjects. J Appl Physiol (1985) (2001) 1.00
Molecular analysis of the myoadenylate deaminase deficiencies. Neurology (1992) 0.97
Cloning of human AMP deaminase isoform E cDNAs. Evidence for a third AMPD gene exhibiting alternatively spliced 5'-exons. J Biol Chem (1992) 0.94
First missense mutations (R388W and R425H) of AMPD1 accompanied with myopathy found in a Japanese patient. Hum Mutat (2000) 0.83
Immunolocalization of AMP-deaminase isozymes in human skeletal muscle and cultured muscle cells: concentration of isoform M at the neuromuscular junction. J Histochem Cytochem (1994) 0.81
A G468-T AMPD1 mutant allele contributes to the high incidence of myoadenylate deaminase deficiency in the Caucasian population. Neuromuscul Disord (2002) 0.78
Haplotype analysis of human AMPD1 gene: origin of common mutant allele. J Med Genet (2004) 0.78
Clinical significance and neuropathology of primary MADD in C34-T and G468-T mutations of the AMPD1 gene. Clin Neuropathol (2005) 0.77
Ecto- and cytosolic 5'-nucleotidases in normal and AMP deaminase-deficient human skeletal muscle. Biol Chem (2006) 0.77
Myoadenylate deaminase deficiency caused by alternative splicing due to a novel intronic mutation in the AMPD1 gene. Mol Genet Metab (2005) 0.77
Myoadenylate deaminase deficiency: primary and secondary types. Toxicol Ind Health (1986) 0.75
Mitochondrial changes in skeletal muscle in amyotrophic lateral sclerosis and other neurogenic atrophies. Brain (2005) 2.18
Beevor's sign in facioscapulohumeral muscular dystrophy: an old sign with new implications. J Neurol (2009) 1.11
A randomized, double blind, placebo-controlled trial of pioglitazone in combination with riluzole in amyotrophic lateral sclerosis. PLoS One (2012) 1.09
The problem of interlab variation in methods for mitochondrial disease diagnosis: enzymatic measurement of respiratory chain complexes. Mitochondrion (2004) 1.04
Successful treatment of MuSK antibody-positive myasthenia gravis with rituximab. Muscle Nerve (2006) 1.01
Atypical phenotypes in patients with facioscapulohumeral muscular dystrophy 4q35 deletion. Arch Neurol (2003) 1.00
Mitochondrial respiratory rates and activities of respiratory chain complexes correlate linearly with heteroplasmy of deleted mtDNA without threshold and independently of deletion size. Biochim Biophys Acta (2002) 0.98
Compartmentation of energy metabolism in atrial myocardium of patients undergoing cardiac surgery. Mol Cell Biochem (2005) 0.98
A novel ANT1 gene mutation with probable germline mosaicism in autosomal dominant progressive external ophthalmoplegia. Neuromuscul Disord (2005) 0.98
Low stability of Huntington muscle mitochondria against Ca2+ in R6/2 mice. Ann Neurol (2006) 0.97
Identification of novel Angiogenin (ANG) gene missense variants in German patients with amyotrophic lateral sclerosis. J Neurol (2009) 0.96
Mitochondria and energetic depression in cell pathophysiology. Int J Mol Sci (2009) 0.95
Muscle carnitine palmitoyltransferase II deficiency: clinical and molecular genetic features and diagnostic aspects. Arch Neurol (2005) 0.94
Mitochondrial dysfunction in sepsis: evidence from bacteraemic baboons and endotoxaemic rabbits. Biosci Rep (2002) 0.94
Impaired regulation of brain mitochondria by extramitochondrial Ca2+ in transgenic Huntington disease rats. J Biol Chem (2008) 0.93
Update on chronic progressive external ophthalmoplegia. Strabismus (2005) 0.92
Attitudes towards complementary and alternative medicine in chronic pain syndromes: a questionnaire-based comparison between primary headache and low back pain. BMC Complement Altern Med (2011) 0.92
Calpain inhibitor (BSF 409425) diminishes ischemia/reperfusion-induced damage of rabbit heart mitochondria. Biochem Pharmacol (2003) 0.91
Frequent low penetrance mutations in the Lamin A/C gene, causing Emery Dreifuss muscular dystrophy. Neuromuscul Disord (2002) 0.90
A novel Twinkle gene mutation in autosomal dominant progressive external ophthalmoplegia. Neuromuscul Disord (2003) 0.89
Cyclic vertical deviation after ocular myositis and treatment by recession of the inferior rectus muscle. Graefes Arch Clin Exp Ophthalmol (2005) 0.88
Between Wallenberg syndrome and hemimedullary lesion: Cestan-Chenais and Babinski-Nageotte syndromes in medullary infarctions. J Neurol (2006) 0.87
Camptocormia phenotype of FSHD: a clinical and MRI study on six patients. J Neurol (2010) 0.86
Respiratory function in late-onset Pompe disease patients receiving long-term enzyme replacement therapy for more than 48 months. Wien Med Wochenschr (2012) 0.86
Effects of extramitochondrial ADP on permeability transition of mouse liver mitochondria. Biochim Biophys Acta (2005) 0.86
Novel mitochondrial transfer RNA(Phe) gene mutation associated with late-onset neuromuscular disease. Arch Neurol (2006) 0.86
Energetic depression caused by mitochondrial dysfunction. Mol Cell Biochem (2004) 0.84
Two novel mutations in the myophosphorylase gene in a patient with McArdle disease. Muscle Nerve (2003) 0.83
Only subtle cognitive deficits in non-bulbar amyotrophic lateral sclerosis patients. J Neurol (2005) 0.83
Triple A syndrome mimicking ALS. Amyotroph Lateral Scler (2008) 0.83
Isolated bilateral blindness as the sole manifestation of transient ischaemic attacks. Acta Ophthalmol Scand (2006) 0.83
Diagnostic impact of myotonic discharges in myofibrillar myopathies. Muscle Nerve (2013) 0.83
[Hypokalemic thyrotoxic periodic paralysis (HTPP). Rare differential diagnosis in case of acute tetraparesis in Europe]. Med Klin (Munich) (2005) 0.83
Phenotype of matrin-3-related distal myopathy in 16 German patients. Ann Neurol (2014) 0.82
Frequencies of myohistological mitochondrial changes in patients with mitochondrial DNA deletions and the common m.3243A>G point mutation. Neuropathology (2014) 0.82
Hirayama disease is a pure spinal motor neuron disorder--a combined DTI and transcranial magnetic stimulation study. J Neurol (2012) 0.82
Typical facioscapulohumeral dystrophy phenotype in patients without FSHD 4q35 deletion. J Neurol (2003) 0.81
Intracellular energetic units in healthy and diseased hearts. Exp Clin Cardiol (2005) 0.80
[Congenital fibrosis of extraocular muscles (CFEOM) and other phenotypes of congenital cranial dysinnervation syndromes (CCDD)]. Nervenarzt (2005) 0.79
The quantitation of ADP diffusion gradients across the outer membrane of heart mitochondria in the presence of macromolecules. Biochim Biophys Acta (2002) 0.79
Distal myopathies: from clinical classification to molecular understanding. J Neural Transm (Vienna) (2013) 0.79
Rimmed vacuoles in facioscapulohumeral muscular dystrophy: a unique ultrastructural feature. Acta Neuropathol (2004) 0.78
Absence of known familial hemiplegic migraine (FHM) mutations in the CACNA1A gene in patients with common migraine: implications for genetic testing. Clin Chem Lab Med (2003) 0.78
Lactate increase and oxygen desaturation in mitochondrial disorders--evaluation of two diagnostic screening protocols. J Neurol (2006) 0.78
Late-onset mitochondrial myopathy with dystrophic changes due to a G7497A mutation in the mitochondrial tRNA(Ser(UCN)) gene. Acta Neuropathol (2005) 0.78
Phosphoglycerate mutase deficiency: case report of a manifesting heterozygote with a novel E154K mutation and very late onset. Acta Neuropathol (2009) 0.78
Ecto- and cytosolic 5'-nucleotidases in normal and AMP deaminase-deficient human skeletal muscle. Biol Chem (2006) 0.77
Frequency of the FKRP mutation c.826C>A in isolated hyperCKemia and in limb girdle muscular dystrophy type 2 in German patients. J Neurol (2009) 0.77
MuSK-antibody positive pure ocular myasthenia gravis. J Neurol (2005) 0.76
Expanding mutation spectrum in CPT II gene: identification of four novel mutations. J Neurol (2013) 0.76
Clinically symptomatic heterozygous carnitine palmitoyltransferase II (CPT II) deficiency. Wien Klin Wochenschr (2012) 0.76
Lactate production upon short-term non-ischemic forearm exercise in mitochondrial disorders and other myopathies. J Neurol (2006) 0.75
Reply to 'Mitochondrial changes in skeletal muscle in amyotrophic lateral sclerosis and other neurogenic atrophies--a comment'. Brain (2006) 0.75
A splice junction mutation in muscle carnitine palmitoyltransferase II deficiency. Mol Genet Metab (2003) 0.75
Anterior spinal artery syndrome: the diagnostic value of electromyography (EMG). J Neurol (2002) 0.75
Babinski-Nageotte's syndrome and Hemimedullary (Reinhold's) syndrome are clinically and morphologically distinct conditions. J Neurol (2003) 0.75
MELAS/SANDO overlap syndrome associated with POLG1 mutations. Neurol Sci (2011) 0.75
Electrical human motor nerve stimulation by Johann Christian Reil in 1792. Muscle Nerve (2014) 0.75
Raymond-Cestan syndrome in pontine ischemia. Clin Neurol Neurosurg (2007) 0.75
Orthognathic surgery in a case of infantile facioscapulohumeral muscular dystrophy with macroglossia. Oral Maxillofac Surg (2008) 0.75
Effect of the new matrix metalloproteinase inhibitor RO-28-2653 on mitochondrial function. Biochem Pharmacol (2002) 0.75
Energetic depression caused by mitochondrial dysfunction. Eur Cytokine Netw (2003) 0.75
False-positive diagnosis of a single, large-scale mitochondrial DNA deletion by Southern blot analysis: the role of neutral polymorphisms. Genet Test (2004) 0.75
Different sensitivities of CPT I and CPT II for inhibition by l-aminocarnitine in human skeletal muscle. Biochim Biophys Acta (2004) 0.75
Increased metabolic muscle fatigue is caused by some but not all mitochondrial mutations. Arch Neurol (2003) 0.75
A novel nonsense mutation (515del4) in muscle carnitine palmitoyltransferase II deficiency. Mol Genet Metab (2002) 0.75
Therapy of neurological disorders in systemic vasculitis. Semin Neurol (2003) 0.75
Alfred Hauptmann, Siegfried Thannhauser, and an endangered muscular disorder. Arch Neurol (2004) 0.75