Published in Brain on December 01, 1999
Mitochondrial fatty acid oxidation defects--remaining challenges. J Inherit Metab Dis (2008) 1.42
Lipid-storage myopathy and respiratory insufficiency due to ETFQO mutations in a patient with late-onset multiple acyl-CoA dehydrogenation deficiency. J Inherit Metab Dis (2004) 0.90
Screening of effective pharmacological treatments for MELAS syndrome using yeasts, fibroblasts and cybrid models of the disease. Br J Pharmacol (2012) 0.85
Clinical and genetical heterogeneity of late-onset multiple acyl-coenzyme A dehydrogenase deficiency. Orphanet J Rare Dis (2014) 0.84
The TP0796 lipoprotein of Treponema pallidum is a bimetal-dependent FAD pyrophosphatase with a potential role in flavin homeostasis. J Biol Chem (2013) 0.84
Computational analysis of a novel mutation in ETFDH gene highlights its long-range effects on the FAD-binding motif. BMC Struct Biol (2011) 0.82
Flavin adenine dinucleotide rescues the phenotype of frataxin deficiency. PLoS One (2010) 0.79
From cholesterogenesis to steroidogenesis: role of riboflavin and flavoenzymes in the biosynthesis of vitamin D. Adv Nutr (2014) 0.78
Mitochondrial Disease. Curr Treat Options Neurol (2001) 0.76
Instability of the Human Cytochrome P450 Reductase A287P Variant Is the Major Contributor to Its Antley-Bixler Syndrome-like Phenotype. J Biol Chem (2016) 0.75
Glutaric aciduria type 2 presenting with acute respiratory failure in an adult. Respir Med Case Rep (2015) 0.75
Advances in genetics: what are the benefits for patients? J Med Genet (2005) 0.75
Riboflavin transport and metabolism in humans. J Inherit Metab Dis (2016) 0.75
Dysferlin, a novel skeletal muscle gene, is mutated in Miyoshi myopathy and limb girdle muscular dystrophy. Nat Genet (1998) 4.38
SPP1 genotype is a determinant of disease severity in Duchenne muscular dystrophy. Neurology (2010) 3.37
Hyperinsulinism and hyperammonemia in infants with regulatory mutations of the glutamate dehydrogenase gene. N Engl J Med (1998) 3.28
Opening of the mitochondrial permeability transition pore causes depletion of mitochondrial and cytosolic NAD+ and is a causative event in the death of myocytes in postischemic reperfusion of the heart. J Biol Chem (2000) 2.89
MELAS mutation in mtDNA binding site for transcription termination factor causes defects in protein synthesis and in respiration but no change in levels of upstream and downstream mature transcripts. Proc Natl Acad Sci U S A (1992) 2.82
Exploring the molecular basis for variability among patients with Becker muscular dystrophy: dystrophin gene and protein studies. Am J Hum Genet (1991) 2.79
Correlating phenotype and genotype in the periodic paralyses. Neurology (2004) 2.55
Beta-sarcoglycan (A3b) mutations cause autosomal recessive muscular dystrophy with loss of the sarcoglycan complex. Nat Genet (1995) 2.53
MELAS: clinical features, biochemistry, and molecular genetics. Ann Neurol (1992) 2.48
Carnitine deficiency of human skeletal muscle with associated lipid storage myopathy: a new syndrome. Science (1973) 2.34
Fingerprint body myopathy, a newly recognized congenital muscle disease. Mayo Clin Proc (1972) 2.34
Reliability of the North Star Ambulatory Assessment in a multicentric setting. Neuromuscul Disord (2009) 2.13
Clinical course, early diagnosis, treatment, and prevention of disease in glutaryl-CoA dehydrogenase deficiency. Neuropediatrics (1996) 2.08
Survival motor neuron gene transcript analysis in muscles from spinal muscular atrophy patients. Biochem Biophys Res Commun (1995) 2.06
Quantification of muscle mitochondrial oxidative phosphorylation enzymes via histochemical staining of blue native polyacrylamide gels. Electrophoresis (1997) 2.04
Infantile encephalomyopathy and nephropathy with CoQ10 deficiency: a CoQ10-responsive condition. Neurology (2005) 1.90
Myotonic dystrophy: evidence for a possible dominant-negative RNA mutation. Hum Mol Genet (1995) 1.89
Mutations in the sarcoglycan genes in patients with myopathy. N Engl J Med (1997) 1.82
Improved diagnosis of Becker muscular dystrophy by dystrophin testing. Neurology (1989) 1.81
Type 1 fiber abnormalities in skeletal muscle of patients with hypertrophic and dilated cardiomyopathy: evidence of subclinical myogenic myopathy. J Am Coll Cardiol (1989) 1.76
Cerebellar ataxia and coenzyme Q10 deficiency. Neurology (2003) 1.73
Characterization of SURF-1 expression and Surf-1p function in normal and disease conditions. Hum Mol Genet (1999) 1.66
Genetic and biochemical normalization in female carriers of Duchenne muscular dystrophy: evidence for failure of dystrophin production in dystrophin-competent myonuclei. Neurology (1995) 1.62
Retrospective study on PET-SPECT imaging in a large cohort of myotonic dystrophy type 1 patients. Neurol Sci (2010) 1.58
Myocardial involvement is very frequent among patients affected with subclinical Becker's muscular dystrophy. Circulation (1996) 1.54
Searches for Lepton flavor violation in the decays tau{+/-}-->e{+/-}gamma and tau{+/-}-->mu{+/-}gamma. Phys Rev Lett (2010) 1.44
Laminin alpha2 muscular dystrophy: genotype/phenotype studies of 22 patients. Neurology (1998) 1.42
Mutations that disrupt the carboxyl-terminus of gamma-sarcoglycan cause muscular dystrophy. Hum Mol Genet (1996) 1.39
A stop-codon mutation in the human mtDNA cytochrome c oxidase I gene disrupts the functional structure of complex IV. Am J Hum Genet (1999) 1.36
Cardiac involvement in Becker muscular dystrophy. J Am Coll Cardiol (1993) 1.36
Facioscapulohumeral muscular dystrophy: epidemiological and molecular study in a north-east Italian population sample. Clin Genet (2009) 1.35
Correlation between cardiac involvement and CTG trinucleotide repeat length in myotonic dystrophy. J Am Coll Cardiol (1995) 1.33
Ultrastructural changes in dysferlinopathy support defective membrane repair mechanism. J Clin Pathol (2005) 1.31
Guideline for the diagnosis and management of glutaryl-CoA dehydrogenase deficiency (glutaric aciduria type I). J Inherit Metab Dis (2007) 1.31
A multicenter, double-blind, randomized trial of deflazacort versus prednisone in Duchenne muscular dystrophy. Muscle Nerve (2000) 1.30
Muscle pathology in dysferlin deficiency. Neuropathol Appl Neurobiol (2002) 1.27
Clinical trials with retinoids for breast cancer chemoprevention. Endocr Relat Cancer (2006) 1.25
Genotype-phenotype correlations of DHP receptor alpha 1-subunit gene mutations causing hypokalemic periodic paralysis. Neuromuscul Disord (1997) 1.24
Genetic epidemiology of congenital muscular dystrophy in a sample from north-east Italy. Hum Genet (1996) 1.24
Oral contraceptive use and breast or ovarian cancer risk in BRCA1/2 carriers: a meta-analysis. Eur J Cancer (2010) 1.21
Caspase 3 expression correlates with skeletal muscle apoptosis in Duchenne and facioscapulo human muscular dystrophy. A potential target for pharmacological treatment? J Neuropathol Exp Neurol (2001) 1.21
A point mutation in the 5' splice site of the dystrophin gene first intron responsible for X-linked dilated cardiomyopathy. Hum Mol Genet (1996) 1.21
Frequency of LGMD gene mutations in Italian patients with distinct clinical phenotypes. Neurology (2009) 1.20
Cardiac and respiratory involvement in advanced stage Duchenne muscular dystrophy. Neuromuscul Disord (1996) 1.19
New method for the accurate characterization of single human skeletal muscle fibres demonstrates a relation between mATPase and MyHC expression in pure and hybrid fibre types. J Muscle Res Cell Motil (1995) 1.18
TARDBP (TDP-43) sequence analysis in patients with familial and sporadic ALS: identification of two novel mutations. Eur J Neurol (2009) 1.18
Identification of new mutations in the ETHE1 gene in a cohort of 14 patients presenting with ethylmalonic encephalopathy. J Med Genet (2008) 1.16
Extensive scanning of the calpain-3 gene broadens the spectrum of LGMD2A phenotypes. J Med Genet (2005) 1.15
Genomic organization of the dysferlin gene and novel mutations in Miyoshi myopathy. Neurology (2001) 1.13
A novel frameshift mutation of the mtDNA COIII gene leads to impaired assembly of cytochrome c oxidase in a patient affected by Leigh-like syndrome. Hum Mol Genet (2000) 1.13
EFNS guidelines on the diagnostic approach to pauci- or asymptomatic hyperCKemia. Eur J Neurol (2010) 1.13
Double blind placebo control trial of large neutral amino acids in treatment of PKU: effect on blood phenylalanine. J Inherit Metab Dis (2007) 1.12
A phenylalanine residue at segment D3-S6 in Nav1.4 voltage-gated Na(+) channels is critical for pyrethroid action. Mol Pharmacol (2001) 1.12
The role of autophagy in the pathogenesis of glycogen storage disease type II (GSDII). Cell Death Differ (2012) 1.11
MtDNA mutations associated with Leber's hereditary optic neuropathy: studies on cytoplasmic hybrid (cybrid) cells. Biochem Biophys Res Commun (1995) 1.11
Evidence for an excess of B→D*τ(-)ν(τ) decays. Phys Rev Lett (2012) 1.10
Molecular diagnosis in LGMD2A: mutation analysis or protein testing? Hum Mutat (2004) 1.10
Screening for mutations in the muscle promoter region and for exonic deletions in a series of 115 DMD and BMD patients. J Med Genet (1992) 1.10
Observation of time-reversal violation in the B0 meson system. Phys Rev Lett (2012) 1.09
Is the carboxyl-terminus of dystrophin required for membrane association? A novel, severe case of Duchenne muscular dystrophy. Ann Neurol (1991) 1.09
Systemic carnitine deficiency--a treatable inherited lipid-storage disease presenting as Reye's syndrome. N Engl J Med (1980) 1.09
Disparate role of Na(+) channel D2-S6 residues in batrachotoxin and local anesthetic action. Mol Pharmacol (2001) 1.08
Heart involvement in muscular dystrophies due to sarcoglycan gene mutations. Muscle Nerve (1999) 1.08
Prevalence of dystrophin-positive fibers in 85 Duchenne muscular dystrophy patients. Neuromuscul Disord (1992) 1.07
Precise measurement of the e+e- --> pi+pi-(gamma) cross section with the initial state radiation method at BABAR. Phys Rev Lett (2009) 1.07
Brain involvement in myotonic dystrophies: neuroimaging and neuropsychological comparative study in DM1 and DM2. J Neurol (2010) 1.07
Diffusion-weighted MRI of maple syrup urine disease encephalopathy. Neuroradiology (2002) 1.05
Measurement of |V(cb)| and the form-factor slope in B --> Dl- nu(l) decays in events tagged by a fully reconstructed B meson. Phys Rev Lett (2010) 1.05
Reactivation of a phospholipid-depleted sodium, potassium-stimulated ATPase. Biochim Biophys Acta (1972) 1.04
LGMD2E patients risk developing dilated cardiomyopathy. Neuromuscul Disord (2003) 1.03
Myotonic dystrophy: tissue-specific effect of somatic CTG expansions on allele-specific DMAHP/SIX5 expression. Hum Mol Genet (1999) 1.02
Molecular characterization of Italian nevoid basal cell carcinoma syndrome patients. Hum Mutat (2005) 1.02
The glucocorticoid receptor N363S polymorphism and steroid response in Duchenne dystrophy. J Neurol Neurosurg Psychiatry (2006) 1.02
Dystrophin-positive fibers in Duchenne dystrophy: origin and correlation to clinical course. Muscle Nerve (1995) 1.02
Fatal infantile liver failure associated with mitochondrial DNA depletion. J Pediatr (1992) 1.01
The riboflavin/FAD cycle in rat liver mitochondria. Eur J Biochem (2000) 1.00
X-inactivation patterns in female Leber's hereditary optic neuropathy patients do not support a strong X-linked determinant. Am J Med Genet (1996) 1.00
MRI in the assessment of muscular pathology: a comparison between limb-girdle muscular dystrophies, hyaline body myopathies and myotonic dystrophies. Radiol Med (2010) 0.99
Dysferlin mutation analysis in a group of Italian patients with limb-girdle muscular dystrophy and Miyoshi myopathy. Eur J Neurol (2004) 0.99
Risk of arrhythmia in type I myotonic dystrophy: the role of clinical and genetic variables. J Neurol Neurosurg Psychiatry (2009) 0.99
Activation of (Na+ + K+)-dependent ATPase by lipid vesicles of negative phospholipids. Biochim Biophys Acta (1977) 0.99
ALS risk but not phenotype is affected by ataxin-2 intermediate length polyglutamine expansion. Neurology (2011) 0.99
Myophosphorylase deficiency affects muscle mitochondrial respiration as shown by 31P-MR spectroscopy in a case with associated multifocal encephalopathy. J Neurol Sci (1995) 0.98
Mitochondrial short-chain L-3-hydroxyacyl-coenzyme A dehydrogenase deficiency: a new defect of fatty acid oxidation. Pediatr Res (1996) 0.98
New lysosomal acid lipase gene mutants explain the phenotype of Wolman disease and cholesteryl ester storage disease. J Lipid Res (1998) 0.98
Saccharomyces cerevisiae mitochondria can synthesise FMN and FAD from externally added riboflavin and export them to the extramitochondrial phase. FEBS Lett (1998) 0.98
Duchenne muscular dystrophy. A population study. Hum Genet (1977) 0.98
Biological effects of a neurotoxic pesticide at low concentrations on sea urchin early development. A terathogenic assay. Chemosphere (1998) 0.97
Carnitine deficiency of skeletal muscle: report of a treated case. Neurology (1976) 0.97
Early ultrastructural and biochemical changes in muscle in dystrophia myotonica. J Neurol Sci (1970) 0.97
Normal myogenesis and increased apoptosis in myotonic dystrophy type-1 muscle cells. Cell Death Differ (2010) 0.97
Lipid storage myopathies. A review of metabolic defect and of treatment. J Neurol (1976) 0.97
[Rhabdomyolysis caused by antilipemic agents in a patient with terminal nephropathy undergoing continuous ambulatory peritoneal dialysis (CAPD)]. Nefrologia (2002) 0.97
Comparative study of acid maltase deficiency. Biochemical differences between infantile, childhood, and adult types. Arch Neurol (1972) 0.97
Genetic epidemiology of muscular dystrophies resulting from sarcoglycan gene mutations. J Med Genet (1997) 0.97
Cross-reactive protein in Duchenne muscle. Lancet (1989) 0.96