Published in Neurology on May 01, 2013
The m.3243A>G mitochondrial DNA mutation and related phenotypes. A matter of gender? J Neurol (2013) 1.09
Redefining phenotypes associated with mitochondrial DNA single deletion. J Neurol (2015) 0.98
The genetics of ataxia: through the labyrinth of the Minotaur, looking for Ariadne's thread. J Neurol (2014) 0.91
Mitochondrial DNA: impacting central and peripheral nervous systems. Neuron (2014) 0.90
Lactose-free diet inducing aseptic pancreatitis and myoclonic jerks in late-onset, putative MERRF syndrome. J Neurol (2016) 0.88
Expanded phenotypic spectrum of the m.8344A>G "MERRF" mutation: data from the German mitoNET registry. J Neurol (2016) 0.87
Development of pharmacological strategies for mitochondrial disorders. Br J Pharmacol (2014) 0.87
Medical management of hereditary optic neuropathies. Front Neurol (2014) 0.86
Mitochondrial disease: genetics and management. J Neurol (2015) 0.84
Control of mitochondrial integrity in ageing and disease. Philos Trans R Soc Lond B Biol Sci (2014) 0.83
"Myo-cardiomyopathy" is commonly associated with the A8344G "MERRF" mutation. J Neurol (2015) 0.81
Mitochondrial disease heterogeneity: a prognostic challenge. Acta Myol (2014) 0.81
A deafness-associated tRNAAsp mutation alters the m1G37 modification, aminoacylation and stability of tRNAAsp and mitochondrial function. Nucleic Acids Res (2016) 0.79
Distal weakness with respiratory insufficiency caused by the m.8344A > G "MERRF" mutation. Neuromuscul Disord (2014) 0.79
Mitochondrial pathology in progressive cerebellar ataxia. Cerebellum Ataxias (2015) 0.76
Myoclonic epilepsy with ragged-red fibers: A case report. Exp Ther Med (2014) 0.75
Aborted sudden cardiac death and a mother with suspected metabolic myopathy. Clin Med Insights Cardiol (2014) 0.75
The entity of parkinsonism and associated lipomatosis. Neurology (2014) 0.75
Causes of Death in Adults with Mitochondrial Disease. JIMD Rep (2015) 0.75
Mitochondrial disease and endocrine dysfunction. Nat Rev Endocrinol (2016) 0.75
Adult-onset myoclonus ataxia associated with the mitochondrial m.8993T>C "NARP" mutation. Mov Disord (2015) 0.75
Genetics of ischaemic stroke in young adults. BBA Clin (2014) 0.75
Revisiting mitochondrial ocular myopathies: a study from the Italian Network. J Neurol (2017) 0.75
Common variants at ABCA7, MS4A6A/MS4A4E, EPHA1, CD33 and CD2AP are associated with Alzheimer's disease. Nat Genet (2011) 9.23
Mutations involved in Aicardi-Goutières syndrome implicate SAMHD1 as regulator of the innate immune response. Nat Genet (2009) 5.84
Oxygen sensing requires mitochondrial ROS but not oxidative phosphorylation. Cell Metab (2005) 5.61
Lithium delays progression of amyotrophic lateral sclerosis. Proc Natl Acad Sci U S A (2008) 5.37
Mutations in genes encoding ribonuclease H2 subunits cause Aicardi-Goutières syndrome and mimic congenital viral brain infection. Nat Genet (2006) 5.26
Systematic identification of human mitochondrial disease genes through integrative genomics. Nat Genet (2006) 4.67
Mutations in CEP290, which encodes a centrosomal protein, cause pleiotropic forms of Joubert syndrome. Nat Genet (2006) 3.97
Distinctive patterns of microRNA expression in primary muscular disorders. Proc Natl Acad Sci U S A (2007) 3.72
The molecular dissection of mtDNA haplogroup H confirms that the Franco-Cantabrian glacial refuge was a major source for the European gene pool. Am J Hum Genet (2004) 3.51
Mitochondrial aspartyl-tRNA synthetase deficiency causes leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation. Nat Genet (2007) 3.43
OPA1 mutations induce mitochondrial DNA instability and optic atrophy 'plus' phenotypes. Brain (2007) 3.35
MPV17 encodes an inner mitochondrial membrane protein and is mutated in infantile hepatic mitochondrial DNA depletion. Nat Genet (2006) 3.17
Phenotypic spectrum associated with mutations of the mitochondrial polymerase gamma gene. Brain (2006) 3.16
The spectrum of clinical disease caused by the A467T and W748S POLG mutations: a study of 26 cases. Brain (2006) 2.98
PLA2G6, encoding a phospholipase A2, is mutated in neurodegenerative disorders with high brain iron. Nat Genet (2006) 2.97
Leukoencephalopathy with thalamus and brainstem involvement and high lactate 'LTBL' caused by EARS2 mutations. Brain (2012) 2.87
Clinical and molecular phenotype of Aicardi-Goutieres syndrome. Am J Hum Genet (2007) 2.81
Exome sequencing identifies ACAD9 mutations as a cause of complex I deficiency. Nat Genet (2010) 2.81
Mutations in INPP5E, encoding inositol polyphosphate-5-phosphatase E, link phosphatidyl inositol signaling to the ciliopathies. Nat Genet (2009) 2.72
Mutations in ADAR1 cause Aicardi-Goutières syndrome associated with a type I interferon signature. Nat Genet (2012) 2.63
Respiratory complex III is required to maintain complex I in mammalian mitochondria. Mol Cell (2004) 2.61
OPA1 mutations associated with dominant optic atrophy impair oxidative phosphorylation and mitochondrial fusion. Brain (2008) 2.57
COQ2 nephropathy: a newly described inherited mitochondriopathy with primary renal involvement. J Am Soc Nephrol (2007) 2.52
Analysis of glutathione: implication in redox and detoxification. Clin Chim Acta (2003) 2.48
Suggested guidelines for the diagnosis and management of urea cycle disorders. Orphanet J Rare Dis (2012) 2.46
Infantile hepatocerebral syndromes associated with mutations in the mitochondrial DNA polymerase-gammaA. Brain (2005) 2.44
Facioscapulohumeral muscular dystrophy in mice overexpressing FRG1. Nature (2005) 2.42
Clinical expression of Leber hereditary optic neuropathy is affected by the mitochondrial DNA-haplogroup background. Am J Hum Genet (2007) 2.40
Hyperactivation of oxidative mitochondrial metabolism in epithelial cancer cells in situ: visualizing the therapeutic effects of metformin in tumor tissue. Cell Cycle (2011) 2.39
In vivo correction of COX deficiency by activation of the AMPK/PGC-1α axis. Cell Metab (2011) 2.33
Nuclear envelope dystrophies show a transcriptional fingerprint suggesting disruption of Rb-MyoD pathways in muscle regeneration. Brain (2006) 2.22
Single-cell expression profiling of dopaminergic neurons combined with association analysis identifies pyridoxal kinase as Parkinson's disease gene. Ann Neurol (2009) 2.21
Increased longevity and refractoriness to Ca(2+)-dependent neurodegeneration in Surf1 knockout mice. Hum Mol Genet (2007) 2.18
Mutations in SPG11, encoding spatacsin, are a major cause of spastic paraplegia with thin corpus callosum. Nat Genet (2007) 2.17
Severe impairment of complex I-driven adenosine triphosphate synthesis in leber hereditary optic neuropathy cybrids. Arch Neurol (2005) 2.17
North Star Ambulatory Assessment, 6-minute walk test and timed items in ambulant boys with Duchenne muscular dystrophy. Neuromuscul Disord (2010) 2.14
Leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation: clinical and genetic characterization and target for therapy. Brain (2014) 2.14
Mitochondrial optic neuropathies: our travels from bench to bedside and back again. Clin Experiment Ophthalmol (2013) 2.14
Rescue of a mitochondrial deficiency causing Leber Hereditary Optic Neuropathy. Ann Neurol (2002) 2.13
Mutations of mitochondrial DNA polymerase gammaA are a frequent cause of autosomal dominant or recessive progressive external ophthalmoplegia. Ann Neurol (2002) 2.12
Assessment of mitochondrial respiratory chain enzymatic activities on tissues and cultured cells. Nat Protoc (2012) 2.12
Retracted VMA21 deficiency causes an autophagic myopathy by compromising V-ATPase activity and lysosomal acidification. Cell (2009) 2.11
Mutations in TTC19 cause mitochondrial complex III deficiency and neurological impairment in humans and flies. Nat Genet (2011) 2.10
Efficient mitochondrial biogenesis drives incomplete penetrance in Leber's hereditary optic neuropathy. Brain (2013) 2.08
Mutations in the profilin 1 gene cause familial amyotrophic lateral sclerosis. Nature (2012) 2.08
Loss of ETHE1, a mitochondrial dioxygenase, causes fatal sulfide toxicity in ethylmalonic encephalopathy. Nat Med (2009) 2.06
Mutation in BAG3 causes severe dominant childhood muscular dystrophy. Ann Neurol (2009) 2.03
Disruptive mitochondrial DNA mutations in complex I subunits are markers of oncocytic phenotype in thyroid tumors. Proc Natl Acad Sci U S A (2007) 2.01
Nerve, muscle and heart acute toxicity following oxaliplatin and capecitabine treatment. Neuromuscul Disord (2012) 2.01
Retinal nerve fiber layer evaluation by optical coherence tomography in unaffected carriers with Leber's hereditary optic neuropathy mutations. Ophthalmology (2005) 2.01
Description, nomenclature, and mapping of a novel cerebello-renal syndrome with the molar tooth malformation. Am J Hum Genet (2003) 1.95
Haplogroup effects and recombination of mitochondrial DNA: novel clues from the analysis of Leber hereditary optic neuropathy pedigrees. Am J Hum Genet (2006) 1.95
Lack of the mitochondrial protein acylglycerol kinase causes Sengers syndrome. Am J Hum Genet (2012) 1.93
A two-stage genome-wide association study of sporadic amyotrophic lateral sclerosis. Hum Mol Genet (2009) 1.93
Gene expression profiling in the early phases of DMD: a constant molecular signature characterizes DMD muscle from early postnatal life throughout disease progression. FASEB J (2007) 1.92
Diffusion-tensor MR imaging of corticospinal tract in amyotrophic lateral sclerosis and progressive muscular atrophy. Radiology (2005) 1.90
AHI1 gene mutations cause specific forms of Joubert syndrome-related disorders. Ann Neurol (2006) 1.89
Phenylbutyrate increases SMN expression in vitro: relevance for treatment of spinal muscular atrophy. Eur J Hum Genet (2004) 1.89
Large-scale population analysis challenges the current criteria for the molecular diagnosis of fascioscapulohumeral muscular dystrophy. Am J Hum Genet (2012) 1.88
Retinal nerve fiber layer evaluation by optical coherence tomography in Leber's hereditary optic neuropathy. Ophthalmology (2005) 1.88
Structure-function defects of human mitochondrial DNA polymerase in autosomal dominant progressive external ophthalmoplegia. Nat Struct Mol Biol (2004) 1.87
Caveolin-1-/- null mammary stromal fibroblasts share characteristics with human breast cancer-associated fibroblasts. Am J Pathol (2009) 1.87
Infantile encephalopathy and defective mitochondrial DNA translation in patients with mutations of mitochondrial elongation factors EFG1 and EFTu. Am J Hum Genet (2006) 1.87
CEP290 mutations are frequently identified in the oculo-renal form of Joubert syndrome-related disorders. Am J Hum Genet (2007) 1.82
miRNAs as serum biomarkers for Duchenne muscular dystrophy. EMBO Mol Med (2011) 1.80
Mutations of FUS gene in sporadic amyotrophic lateral sclerosis. J Med Genet (2009) 1.79
Constitutive activation of MAPK cascade in acute quadriplegic myopathy. Ann Neurol (2004) 1.77
Molecular diagnosis in mitochondrial complex I deficiency using exome sequencing. J Med Genet (2012) 1.77