Published in Eur J Hum Genet on February 24, 2010
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Cellular pathophysiological consequences of BCS1L mutations in mitochondrial complex III enzyme deficiency. Hum Mutat (2010) 0.95
Early myoclonic epilepsy, hypertrophic cardiomyopathy and subsequently a nephrotic syndrome in a patient with CoQ10 deficiency caused by mutations in para-hydroxybenzoate-polyprenyl transferase (COQ2). Eur J Paediatr Neurol (2013) 0.93
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Identification of 16 novel mutations in the argininosuccinate synthetase gene and genotype-phenotype correlation in 38 classical citrullinemia patients. Hum Mutat (2003) 0.90
Spinocerebellar ataxias: an example of the challenges associated with genetic databases for dynamic mutations. Hum Mutat (2012) 0.88
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A novel CACNA1A mutation associated with adult-onset, paroxysmal head tremor. Mov Disord (2013) 0.87
Two siblings with homozygous pathogenic splice-site variant in mitochondrial asparaginyl-tRNA synthetase (NARS2). Hum Mutat (2015) 0.87
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Pathogenic mutations in the 5' untranslated region of BCS1L mRNA in mitochondrial complex III deficiency. Mitochondrion (2009) 0.84
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Preimplantation genetic diagnosis for myotonic dystrophy type 1: upon request to child. Eur J Hum Genet (2009) 0.83
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De novo MECP2 duplications in two females with intellectual disability and unfavorable complete skewed X-inactivation. Hum Genet (2014) 0.82
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A novel mitochondrial transfer RNA(Asn) mutation causing multiorgan failure. Arch Neurol (2006) 0.81
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The reproductive outcome of female patients with myotonic dystrophy type 1 (DM1) undergoing PGD is not affected by the size of the expanded CTG repeat tract. J Assist Reprod Genet (2010) 0.80
Ptosis as an associated finding in maternally inherited diabetes and deafness. Ophthalmic Genet (2010) 0.80
Mitochondrial mosaics in the liver of 3 infants with mtDNA defects. BMC Clin Pathol (2009) 0.80
Development of a human mitochondrial oligonucleotide microarray (h-MitoArray) and gene expression analysis of fibroblast cell lines from 13 patients with isolated F1Fo ATP synthase deficiency. BMC Genomics (2008) 0.79
Fluorescence imaging of mitochondria in cultured skin fibroblasts: a useful method for the detection of oxidative phosphorylation defects. Pediatr Res (2012) 0.79
A new family with the mitochondrial tRNAGLU gene mutation m.14709T>C presenting with hydrops fetalis. Eur J Paediatr Neurol (2006) 0.78
Mitochondrial dysfunction in Brooks-Wisniewski-Brown syndrome. Am J Med Genet A (2006) 0.78
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Effect of resveratrol on cultured skin fibroblasts from patients with oxidative phosphorylation defects. Phytother Res (2013) 0.77
Polymerase gamma deficiency (POLG): clinical course in a child with a two stage evolution from infantile myocerebrohepatopathy spectrum to an Alpers syndrome and neuropathological findings of Leigh's encephalopathy. Eur J Paediatr Neurol (2012) 0.77
Unusual findings in Leigh syndrome caused by T8993C mutation. Eur J Paediatr Neurol (2008) 0.77
Analysis of the mitochondrial encoded subunits of complex I in 20 patients with a complex I deficiency. Eur J Paediatr Neurol (2004) 0.77
A novel mutation in the DGUOK gene in a Turkish newborn with mitochondrial depletion syndrome. Turk J Pediatr (2011) 0.76
The aerobic forearm exercise test, a non-invasive tool to screen for mitochondrial disorders. Acta Neurol Belg (2007) 0.76
Defining the pathogenesis of the human Atp12p W94R mutation using a Saccharomyces cerevisiae yeast model. J Biol Chem (2009) 0.76
Extremely high mutation load of the mitochondrial 8993 T>G mutation in a newborn: implications for prognosis and family planning decisions. Eur J Pediatr (2014) 0.75
Concurrent amyotrophic lateral sclerosis and cystic fibrosis supports common pathways of pathogenesis. Amyotroph Lateral Scler Frontotemporal Degener (2013) 0.75
Congenital myotonic dystrophy: natural disease progression and facial dysmorphology. Clin Dysmorphol (2014) 0.75
A novel MPZ gene mutation in exon 2 causing late-onset demyelinating Charcot-Marie-Tooth disease. J Clin Neuromuscul Dis (2012) 0.75
DGUOK-related mitochondrial DNA depletion syndrome in a child with an early diagnosis of glycogen storage disease. J Pediatr Gastroenterol Nutr (2013) 0.75
Two novel mitochondrial DNA mutations in muscle tissue of a patient with limb-girdle myopathy. Arch Neurol (2007) 0.75