Mitochondrial diseases |
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Multi-system neurological disease is common in patients with OPA1 mutations |
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Multiple acyl-coenzyme A dehydrogenase deficiency shows a possible founder effect and is the most frequent cause of lipid storage myopathy in Iran |
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Multisystem fatal infantile disease caused by a novel homozygous EARS2 mutation |
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Mutation in TACO1, encoding a translational activator of COX I, results in cytochrome c oxidase deficiency and late-onset Leigh syndrome. |
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A Mutation in the Flavin Adenine Dinucleotide-Dependent Oxidoreductase FOXRED1 Results in Cell-Type-Specific Assembly Defects in Oxidative Phosphorylation Complexes I and II. |
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Mutation screening of 75 candidate genes in 152 complex I deficiency cases identifies pathogenic variants in 16 genes including NDUFB9. |
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mutations and central demyelination: Evidence from electrophysiologic phenotyping in female manifesting carriers |
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Mutations in COX10 result in a defect in mitochondrial heme A biosynthesis and account for multiple, early-onset clinical phenotypes associated with isolated COX deficiency |
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Mutations in ELAC2 associated with hypertrophic cardiomyopathy impair mitochondrial tRNA 3'-end processing |
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Mutations in glycyl-tRNA-synthetase impair mitochondrial metabolism in neurons. |
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Mutations in the Mitochondrial Citrate Carrier SLC25A1 are Associated with Impaired Neuromuscular Transmission |
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Mutations in the SPG7 gene cause chronic progressive external ophthalmoplegia through disordered mitochondrial DNA maintenance |
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The myopathic form of coenzyme Q10 deficiency is caused by mutations in the electron-transferring-flavoprotein dehydrogenase (ETFDH) gene |
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NDUFS8-related Complex I Deficiency Extends Phenotype from "PEO Plus" to Leigh Syndrome |
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Near-identical segregation of mtDNA heteroplasmy in blood, muscle, urinary epithelium, and hair follicles in twins with optic atrophy, ptosis, and intractable epilepsy. |
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The neurological and ophthalmological manifestations of SPG4-related hereditary spastic paraplegia |
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Novel genetic and neuropathological insights in neurogenic muscle weakness, ataxia, and retinitis pigmentosa (NARP). |
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Novel homozygous RARS2 mutation in two siblings without pontocerebellar hypoplasia - further expansion of the phenotypic spectrum |
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A novel mechanism causing imbalance of mitochondrial fusion and fission in human myopathies. |
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A novel mitochondrial MTND5 frameshift mutation causing isolated complex I deficiency, renal failure and myopathy |
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Novel SBF2 mutations and clinical spectrum of Charcot-Marie-Tooth neuropathy type 4B2 |
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De Novo Mutations in EBF3 Cause a Neurodevelopmental Syndrome |
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Nuclear factors involved in mitochondrial translation cause a subgroup of combined respiratory chain deficiency |
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Nuclear-mitochondrial proteins: too much to process? |
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Nucleoside supplementation modulates mitochondrial DNA copy number in the dguok -/- zebrafish |
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OPA1 mutations cause cytochrome c oxidase deficiency due to loss of wild-type mtDNA molecules |
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OPA1 mutations induce mtDNA proliferation in leukocytes of patients with dominant optic atrophy |
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The p.Ser107Leu in BICD2 is a mutation 'hot spot' causing distal spinal muscular atrophy |
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Parkinson syndrome, neuropathy, and myopathy caused by the mutation A8344G (MERRF) in tRNALys. |
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The pathogenic m.3243A>T mitochondrial DNA mutation is associated with a variable neurological phenotype. |
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Pathogenic mtDNA mutations causing mitochondrial myopathy: The need for muscle biopsy. |
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Pathophysiological and molecular characterization of a mouse model of ARCA2, a recessive cerebellar ataxia associated to Coenzyme Q10 deficiency |
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Phenotypic convergence of Menkes and Wilson disease |
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Phenotypic spectrum associated with mutations of the mitochondrial polymerase gamma gene. |
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The phenotypic spectrum of neutral lipid storage myopathy due to mutations in the PNPLA2 gene. |
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Phenotypic variability of TRPV4 related neuropathies |
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Polymerase γ gene POLG determines the risk of sodium valproate-induced liver toxicity |
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Predicting the contribution of novel POLG mutations to human disease through analysis in yeast model |
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The prevalence and natural history of dominant optic atrophy due to OPA1 mutations |
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Prevalence of neurogenetic disorders in the North of England |
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Progressive brain iron accumulation in neuroferritinopathy measured by the thalamic T2* relaxation rate. |
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Prominent sensorimotor neuropathy due to SACS mutations revealed by whole-exome sequencing. |
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Recurrent stroke-like episodes in X-linked Charcot-Marie-Tooth disease |
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Reply: Evaluation of exome sequencing variation in undiagnosed ataxias. |
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Reply: POLR3A variants in hereditary spastic paraplegia and ataxia. |
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Respiratory-chain deficiency presenting as diffuse mesangial sclerosis with NPHS3 mutation |
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Response to Newman et al. |
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Reversion of hypertrophic cardiomyopathy in a patient with deficiency of the mitochondrial copper binding protein Sco2: is there a potential effect of copper? |
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Riboflavin-Responsive and -Non-responsive Mutations in FAD Synthase Cause Multiple Acyl-CoA Dehydrogenase and Combined Respiratory-Chain Deficiency |
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RNA exosome mutations in pontocerebellar hypoplasia alter ribosome biogenesis and p53 levels |
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The role of complex I genes in MELAS: a novel heteroplasmic mutation 3380G>A in ND1 of mtDNA. |
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The role of tRNA synthetases in neurological and neuromuscular disorders |
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RRM2B mutations are frequent in familial PEO with multiple mtDNA deletions |
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SACS variants are a relevant cause of autosomal recessive hereditary motor and sensory neuropathy |
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Safety and efficacy of deferiprone for pantothenate kinase-associated neurodegeneration: a randomised, double-blind, controlled trial and an open-label extension study |
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Salbutamol modifies the neuromuscular junction in a mouse model of ColQ myasthenic syndrome |
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SCP2 mutations and neurodegeneration with brain iron accumulation |
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SDHAF1, encoding a LYR complex-II specific assembly factor, is mutated in SDH-defective infantile leukoencephalopathy |
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Sequence analysis of Hungarian LHON patients not carrying the common primary mutations |
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Severe nemaline myopathy caused by mutations of the stop codon of the skeletal muscle alpha actin gene (ACTA1). |
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Severe neurodevelopmental disease caused by a homozygous TLK2 variant |
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SIL1 deficiency causes degenerative changes of peripheral nerves and neuromuscular junctions in fish, mice and human |
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SPG7 mutations are a common cause of undiagnosed ataxia |
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Store-Operated Ca2+ Entry Controls Induction of Lipolysis and the Transcriptional Reprogramming to Lipid Metabolism |
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Structural modeling of tissue-specific mitochondrial alanyl-tRNA synthetase (AARS2) defects predicts differential effects on aminoacylation |
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Synaptotagmin 2 mutations cause an autosomal-dominant form of lambert-eaton myasthenic syndrome and nonprogressive motor neuropathy |
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Titin mutation segregates with hereditary myopathy with early respiratory failure |
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Treatable childhood neuronopathy caused by mutations in riboflavin transporter RFVT2 |
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Truncating and missense mutations in IGHMBP2 cause Charcot-Marie Tooth disease type 2. |
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An under-recognised cause of spastic paraparesis in middle-aged women |
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An unusual gait following the discovery of a new disease |
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An Unusual Retinal Phenotype Associated With a Mutation in Sterol Carrier Protein SCP2. |
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Update on clinical aspects and treatment of selected vitamin-responsive disorders II (riboflavin and CoQ 10). |
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Use of stereotypical mutational motifs to define resolution limits for the ultra-deep resequencing of mitochondrial DNA. |
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Valproic acid triggers increased mitochondrial biogenesis in POLG-deficient fibroblasts |
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Variants in EXOSC9 Disrupt the RNA Exosome and Result in Cerebellar Atrophy with Spinal Motor Neuronopathy. |
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Variation in MAPT is not a contributing factor to the incomplete penetrance in LHON. |
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Voxel-based analysis in neuroferritinopathy expands the phenotype and determines radiological correlates of disease severity. |
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What is influencing the phenotype of the common homozygous polymerase-γ mutation p.Ala467Thr? |
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Whole exome sequencing and the clinician: we need clinical skills and functional validation in variant filtering |
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