| Nome |
# |
|
Further phenotypic heterogeneity of CoQ10 deficiency associated with Steroid Resistant Nephrotic Syndrome and novel COQ2 and COQ6 variants., file e14fb269-7f52-3de1-e053-1705fe0ac030
|
312
|
|
Validation of CFTR intronic variants identified during cystic fibrosis population screening by a minigene splicing assay., file e14fb269-7b5c-3de1-e053-1705fe0ac030
|
290
|
|
The idebenone metabolite QS10 restores electron transfer in complex I and coenzyme Q defects, file e14fb26a-cd3b-3de1-e053-1705fe0ac030
|
290
|
|
Defective excitation-contraction coupling and mitochondrial respiration precede mitochondrial Ca2+ accumulation in spinobulbar muscular atrophy skeletal muscle, file bde68252-cd7a-4f86-86b7-68e12c56ec7c
|
276
|
|
Functional Complementation in Yeast Allows Molecular Characterization of Missense Argininosuccinate Lyase Mutations, file e14fb26f-4ad2-3de1-e053-1705fe0ac030
|
165
|
|
Drug Repurposing for Duchenne Muscular Dystrophy: The Monoamine Oxidase B Inhibitor Safinamide Ameliorates the Pathological Phenotype in mdx Mice and in Myogenic Cultures From DMD Patients, file e14fb26b-0a38-3de1-e053-1705fe0ac030
|
140
|
|
Primary Coenzyme Q10 Deficiency, file e14fb26f-5555-3de1-e053-1705fe0ac030
|
90
|
|
Functional characterization of human COQ4, a gene required for Coenzyme Q(10) biosynthesis, file e14fb26f-56a5-3de1-e053-1705fe0ac030
|
71
|
|
The Arg1038Gly missense variant in the NF1 gene causes a mild phenotype without neurofibromas, file e14fb26b-a4e6-3de1-e053-1705fe0ac030
|
69
|
|
Age-Associated Loss of OPA1 in Muscle Impacts Muscle Mass, Metabolic Homeostasis, Systemic Inflammation, and Epithelial Senescence, file e14fb26f-8bbb-3de1-e053-1705fe0ac030
|
68
|
|
Molecular characterization of the human COQ5 C-methyltransferase in coenzyme Q10 biosynthesis., file e14fb269-7b1b-3de1-e053-1705fe0ac030
|
62
|
|
Mutations in COQ8B (ADCK4) found in patients with steroid-resistant nephrotic syndrome alter COQ8B function, file e14fb26e-d186-3de1-e053-1705fe0ac030
|
62
|
|
Increased mitophagy in the skeletal muscle of spinal and bulbar muscular atrophy patients, file e14fb26e-f279-3de1-e053-1705fe0ac030
|
55
|
|
Not only dominant, not only optic atrophy: expanding the clinical spectrum associated with OPA1 mutations, file e14fb26f-9575-3de1-e053-1705fe0ac030
|
55
|
|
Two unusual cases of Gitelman's syndrome with a complex inheritance: how the phenotype can help interpret the genotype: lesson for the clinical nephrologist, file e14fb26e-f42d-3de1-e053-1705fe0ac030
|
50
|
|
DRP1-mediated mitochondrial shape controls calcium homeostasis and muscle mass, file e14fb26f-9c7e-3de1-e053-1705fe0ac030
|
49
|
|
Copper and bezafibrate cooperate to rescue cytochrome c oxidase deficiency in cells of patients with sco2 mutations., file e14fb269-7aa1-3de1-e053-1705fe0ac030
|
45
|
|
Heterologous Expression in Yeast of Human Ornithine Carriers ORNT1 and ORNT2 and of ORNT1 Alleles Implicated in HHH Syndrome in Humans, file e14fb26f-683e-3de1-e053-1705fe0ac030
|
42
|
|
Effect of vanillic acid on COQ6 mutants identified in patients
with coenzyme Q10 deficiency, file e14fb269-8df0-3de1-e053-1705fe0ac030
|
37
|
|
Haploinsufficiency of COQ4 causes coenzymeQ10 deficiency, file e14fb26f-68a5-3de1-e053-1705fe0ac030
|
36
|
|
Coenzyme Q(10) is frequently reduced in muscle of patients with mitochondrial myopathy, file e14fb267-7cee-3de1-e053-1705fe0ac030
|
22
|
|
Hybrid minigene assay: An efficient tool to characterize mrna splicing profiles of nf1 variants, file e14fb26e-64d6-3de1-e053-1705fe0ac030
|
20
|
|
The Conserved Mitochondrial Twin Cx(9)C Protein Cmc2 Is a Cmc1 Homologue Essential for Cytochrome c Oxidase Biogenesis, file e14fb267-8c00-3de1-e053-1705fe0ac030
|
18
|
|
Renal involvement in mitochondrial cytopathies., file e14fb267-ab14-3de1-e053-1705fe0ac030
|
16
|
|
Analysis of Coenzyme Q(10) in muscle and fibroblasts for the diagnosis of CoQ(10) deficiency syndromes, file e14fb267-84e2-3de1-e053-1705fe0ac030
|
15
|
|
Challenges in diagnosis and treatment of late-onset Pompe disease., file e14fb267-aad0-3de1-e053-1705fe0ac030
|
15
|
|
Mutation screening in patients with isolated cytochrome c oxidase deficiency, file e14fb267-6a36-3de1-e053-1705fe0ac030
|
14
|
|
Coenzyme Q10 distribution in blood is altered in patients with Fibromyalgia, file e14fb267-7b11-3de1-e053-1705fe0ac030
|
14
|
|
hCOX18 and hCOX19: two human genes involved in cytochrome c oxidase assembly, file e14fb267-7cf6-3de1-e053-1705fe0ac030
|
14
|
|
Abnormalities of cerebral arteries are frequent in patients with late-onset Pompe disease, file e14fb267-7eb6-3de1-e053-1705fe0ac030
|
14
|
|
Mitochondrial DNA depletion: mutations in thymidine kinase gene with myopathy and SMA, file e14fb267-6a38-3de1-e053-1705fe0ac030
|
12
|
|
Optimization of respiratory chain enzymatic assays in muscle for the diagnosis of mitochondrial disorders., file e14fb267-aad1-3de1-e053-1705fe0ac030
|
12
|
|
Mitochondrial myopathy and ophthalmoplegia in a sporadic patient with the G12315A mutation in mitochondrial DNA, file e14fb267-6a37-3de1-e053-1705fe0ac030
|
11
|
|
Novel mutations in the L1CAM gene support the complexity of L1 syndrome, file e14fb267-8de3-3de1-e053-1705fe0ac030
|
11
|
|
Diagnostic challenges in facioscapulohumeral muscular dystrophy, file e14fb267-714e-3de1-e053-1705fe0ac030
|
10
|
|
Hunter syndrome in an 11-year old girl on enzyme replacement therapy with idursulfase: brain magnetic resonance imaging features and evolution., file e14fb267-9eb5-3de1-e053-1705fe0ac030
|
10
|
|
ADCK4 mutations promote steroid-Resistant nephrotic syndrome through CoQ10 biosynthesis disruption, file e14fb268-66ea-3de1-e053-1705fe0ac030
|
10
|
|
Patients with a phenotype consistent with facioscapulohumeral muscular dystrophy display genetic and epigenetic heterogeneity., file e14fb267-aace-3de1-e053-1705fe0ac030
|
9
|
|
Alport syndrome and leiomyomatosis: the first deletion extending beyond COL4A6 intron 2., file e14fb267-aad3-3de1-e053-1705fe0ac030
|
9
|
|
The Splicing of the Mitochondrial Calcium Uniporter Genuine Activator MICU1 Is Driven by RBFOX2 Splicing Factor during Myogenic Differentiation, file e14fb26f-b5dc-3de1-e053-1705fe0ac030
|
9
|
|
Increased level of N-acetylaspartylglutamate (NAAG) in the CSF of a patient with Pelizaeus-Merzbacher-like disease due to mutation in the GJA12 gene., file e14fb267-8341-3de1-e053-1705fe0ac030
|
8
|
|
LETM1, deleted in Wolf-Hirschhorn syndrome is required for normal mitochondrial morphology and cellular viability, file e14fb267-8c48-3de1-e053-1705fe0ac030
|
8
|
|
Two splice variants of CaMKII-anchoring protein are present in the sarcoplasmic reticulum of rabbit fast-twitch muscle, file e14fb267-8d84-3de1-e053-1705fe0ac030
|
8
|
|
6q27 subtelomeric deletions: Is there a specific phenotype?, file e14fb267-a149-3de1-e053-1705fe0ac030
|
8
|
|
Whole exome sequencing in dominant cataract identifies a new causative factor, CRYBA2, and a variety of novel alleles in known genes., file e14fb267-a846-3de1-e053-1705fe0ac030
|
8
|
|
Coenzyme Q₁₀ deficiency in mitochondrial DNA depletion syndromes., file e14fb267-aad7-3de1-e053-1705fe0ac030
|
8
|
|
Novel SURF1 mutation in a child with subacute encephalopathy and without the radiological features of Leigh Syndrome, file e14fb267-6a34-3de1-e053-1705fe0ac030
|
7
|
|
Treatment of CoQ(10) Deficient Fibroblasts with Ubiquinone, CoQ Analogs, and Vitamin C: Time- and Compound-Dependent Effects, file e14fb267-7eb7-3de1-e053-1705fe0ac030
|
7
|
|
High frequency of mosaic CREBBP deletions in Rubinstein-Taybi syndrome patients and mapping of somatic and germ-line breakpoints, file e14fb267-7efe-3de1-e053-1705fe0ac030
|
7
|
|
Survival transcriptome in the coenzyme Q10 deficiency syndrome is acquired by epigenetic modifications: a modelling study for human coenzyme Q10 deficiencies., file e14fb267-a9ea-3de1-e053-1705fe0ac030
|
7
|
|
Human frataxin, the Friedreich ataxia deficient protein, interacts with mitochondrial respiratory chain, file 0125a12b-fc7a-4d25-9e33-71e666941ef9
|
6
|
|
Respiratory chain dysfunction and oxidative stress correlate with severity of primary CoQ10 deficiency., file e14fb267-76d5-3de1-e053-1705fe0ac030
|
6
|
|
Mitochondrial cristae shape determines respiratory chain supercomplexes assembly and respiratory efficiency., file e14fb267-aa95-3de1-e053-1705fe0ac030
|
6
|
|
A novel KRT1 c.1433A>G p.(Glu478Gly) mutation in a newborn with epidermolytic ichthyosis., file e14fb26d-a3fe-3de1-e053-1705fe0ac030
|
6
|
|
Hepatocerebral mitochondrial DNA depletion syndrome: clinical and morphologic features of a nuclear gene mutation, file e14fb267-6a35-3de1-e053-1705fe0ac030
|
5
|
|
Complex neurologic syndrome associated with the G1606A mutation of mitochondrial DNA, file e14fb267-6a3a-3de1-e053-1705fe0ac030
|
5
|
|
Copper supplementation restores cytochrome c oxidase activity in cultured cells from patients with SCO2 mutations, file e14fb267-6a3c-3de1-e053-1705fe0ac030
|
5
|
|
Coenzyme Q deficiency triggers mitochondria degradation by mitophagy, file e14fb267-824e-3de1-e053-1705fe0ac030
|
5
|
|
Recessive MYL2 mutations cause infantile type I muscle fibre disease and cardiomyopathy., file e14fb267-a847-3de1-e053-1705fe0ac030
|
5
|
|
The displacement of frataxin from the mitochondrial cristae correlates with abnormal respiratory supercomplexes formation and bioenergetic defects in cells of Friedreich ataxia patients., file e14fb26e-6e13-3de1-e053-1705fe0ac030
|
5
|
|
Acute disseminated encephalomyelitis associated with hepatitis C virus infection, file e14fb267-6a3d-3de1-e053-1705fe0ac030
|
4
|
|
Reactive oxygen species, oxidative stress, and cell death correlate with level of CoQ(10) deficiency, file e14fb267-7eb5-3de1-e053-1705fe0ac030
|
4
|
|
A novel deletion in the GTPase domain of OPA1 causes defects in mitochondrial morphology and distribution, but not in function., file e14fb267-8721-3de1-e053-1705fe0ac030
|
4
|
|
Molecular analysis of two uncharacterized sequence variants of the VHL gene., file e14fb267-8a80-3de1-e053-1705fe0ac030
|
4
|
|
Coenzyme Q10 deficiencies in neuromuscular diseases., file e14fb267-9dbe-3de1-e053-1705fe0ac030
|
4
|
|
COQ6 mutations in human patients produce nephrotic syndrome with sensorineural deafness., file e14fb26f-5089-3de1-e053-1705fe0ac030
|
4
|
|
Vitamin K2 cannot substitute Coenzyme Q(10) as electron carrier in the mitochondrial respiratory chain of mammalian cells, file 28fbc406-0ef8-450f-86bc-b831c811a7a7
|
3
|
|
Mutation analysis of COX18 in 29 patients with isolated cytochrome c oxidase deficiency., file e14fb267-644d-3de1-e053-1705fe0ac030
|
3
|
|
Cytochrome c oxidase deficiency due to a novel SCO2 mutation mimics Werdnig-Hoffmann disease, file e14fb267-6a3b-3de1-e053-1705fe0ac030
|
3
|
|
Deletion of PTEN and BMPR1A on chromosome 10q23 is not always associated with juvenile polyposis of infancy, file e14fb267-7fff-3de1-e053-1705fe0ac030
|
3
|
|
Comorbidity between headache and epilepsy in a pediatric headache center, file e14fb267-8478-3de1-e053-1705fe0ac030
|
3
|
|
Is CFTR 621+3 A > G a cystic fibrosis causing mutation?, file e14fb267-8778-3de1-e053-1705fe0ac030
|
3
|
|
Prevalence of AIP mutations in a large series of sporadic Italian acromegalic patients and evaluation of CDKN1B status in acromegalic patients with multiple endocrine neoplasia., file e14fb267-8a49-3de1-e053-1705fe0ac030
|
3
|
|
The FSHD2 Gene SMCHD1 Is a Modifier of Disease Severity in Families Affected by FSHD1., file e14fb267-aa94-3de1-e053-1705fe0ac030
|
3
|
|
The COQ2 genotype predicts the severity of Coenzyme Q10 deficiency, file e14fb269-783e-3de1-e053-1705fe0ac030
|
3
|
|
Ichthyosis and Kallmann syndrome: Not always a contiguous gene syndrome, file e14fb269-7eda-3de1-e053-1705fe0ac030
|
3
|
|
The combined use of enzyme activity and metabolite assays as a strategy for newborn screening of mucopolysaccharidosis type i, file 21fe16b1-f631-4038-88a4-fb930ee6ecf2
|
2
|
|
Functional characterization of human COQ4, a gene required for Coenzyme Q(10) biosynthesis, file e14fb267-890e-3de1-e053-1705fe0ac030
|
2
|
|
A functionally dominant mitochondrial DNA mutation, file e14fb267-8ec6-3de1-e053-1705fe0ac030
|
2
|
|
Haploinsufficiency of COQ4 causes coenzymeQ10 deficiency, file e14fb267-9446-3de1-e053-1705fe0ac030
|
2
|
|
Yeast complementation is sufficiently sensitive to detect the residual activity of ASL alleles associated with mild forms of argininosuccinic aciduria, file e14fb267-9b4f-3de1-e053-1705fe0ac030
|
2
|
|
X-linked brachytelephalangic chondrodysplasia punctata: a simple trait that is not so simple., file e14fb267-9e38-3de1-e053-1705fe0ac030
|
2
|
|
Clinical and molecular study in a long-surviving patient with MLASA syndrome due to novel PUS1 mutations, file e14fb268-84fa-3de1-e053-1705fe0ac030
|
2
|
|
Genetics of coenzyme q10 deficiency., file e14fb269-7465-3de1-e053-1705fe0ac030
|
2
|
|
Molecular Genetics of Argininosuccinic Aciduria, file e14fb269-7c56-3de1-e053-1705fe0ac030
|
2
|
|
Is there a link between COQ6 and schwannomatosis?, file e14fb269-8098-3de1-e053-1705fe0ac030
|
2
|
|
The pyruvate kinase activator mitapivat reduces hemolysis and improves anemia in a β-thalassemia mouse model, file e14fb270-123c-3de1-e053-1705fe0ac030
|
2
|
|
Electroclinical features in two novel STRADA patients and a functional yeast assay for the validation of missense STRADA mutations, file a6ff72cd-0aa7-499d-af69-0816e1a1dd4b
|
1
|
|
A Mutation in Para-Hydroxybenzoate-Polyprenyl Transferase (COQ2) Causes Primary Coenzyme Q10 Deficiency., file e14fb267-866a-3de1-e053-1705fe0ac030
|
1
|
|
Pontocerebellar hypoplasia type 6 caused by mutations in RARS2: definition of the clinical spectrum and molecular findings in five patients, file e14fb267-a10b-3de1-e053-1705fe0ac030
|
1
|
|
Genetic bases and clinical manifestations of coenzyme Q10 (CoQ 10) deficiency., file e14fb269-72f4-3de1-e053-1705fe0ac030
|
1
|
|
Coenzyme Q biosynthesis in health and disease, file e14fb269-7940-3de1-e053-1705fe0ac030
|
1
|
|
Secondary coenzyme Q10 deficiencies in oxidative phosphorylation (OXPHOS) and non-OXPHOS disorders., file e14fb269-7f01-3de1-e053-1705fe0ac030
|
1
|
|
Primary coenzyme Q10 deficiency presenting as fatal neonatal multiorgan failure., file e14fb269-8099-3de1-e053-1705fe0ac030
|
1
|
|
A synonymous splicing mutation in the SF3B4 gene segregates in a family with highly variable Nager syndrome., file e14fb269-80fc-3de1-e053-1705fe0ac030
|
1
|
|
OPA1 and Its Clinical Implications, file e14fb269-8153-3de1-e053-1705fe0ac030
|
1
|
|
Missense mutation of the COQ2 gene causes defects of bioenergetics and de novo pyrimidine synthesis, file e14fb269-8fcf-3de1-e053-1705fe0ac030
|
1
|
| Totale |
2.745 |