| Nome |
# |
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Infant and Adult Gut Microbiome and Metabolome in Rural Bassa and Urban Settlers from Nigeria, file e1dcb331-451f-7715-e053-1705fe0a6cc9
|
200
|
|
An increased burden of rare exonic variants in NRXN1 microdeletion carriers is likely to enhance the penetrance for autism spectrum disorder., file e1dcb337-6bb6-7715-e053-1705fe0a6cc9
|
128
|
|
Peculiar combinations of individually non-pathogenic missense mitochondrial DNA variants cause low penetrance Leber's hereditary optic neuropathy, file e1dcb332-9a94-7715-e053-1705fe0a6cc9
|
121
|
|
Deciphering OPA1 mutations pathogenicity by combined analysis of human, mouse and yeast cell models, file e1dcb331-3922-7715-e053-1705fe0a6cc9
|
116
|
|
Eight human OPA1 isoforms, long and short: What are they for?, file e1dcb335-2c81-7715-e053-1705fe0a6cc9
|
115
|
|
Association of the mtDNA m.4171C>A/MT-ND1 mutation with both optic neuropathy and bilateral brainstem lesions, file e1dcb333-1df5-7715-e053-1705fe0a6cc9
|
112
|
|
Rare Primary Mitochondrial DNA Mutations and Probable Synergistic Variants in Leber's Hereditary Optic Neuropathy., file e1dcb332-d65a-7715-e053-1705fe0a6cc9
|
110
|
|
Clonal expansion of mtDNA deletions: different disease models assessed by digital droplet PCR in single muscle cells., file e1dcb331-8ae8-7715-e053-1705fe0a6cc9
|
106
|
|
OPA1 Isoforms in the Hierarchical Organization of Mitochondrial Functions, file e1dcb331-5546-7715-e053-1705fe0a6cc9
|
99
|
|
Liver as a Source for Thymidine Phosphorylase Replacement in Mitochondrial Neurogastrointestinal Encephalomyopathy, file e1dcb32c-5d0b-7715-e053-1705fe0a6cc9
|
95
|
|
Keeping in Shape the Dogma of Mitochondrial DNA Maternal Inheritance, file e1dcb332-d3f8-7715-e053-1705fe0a6cc9
|
94
|
|
Secondary post-geniculate involvement in Leber's hereditary optic neuropathy., file e1dcb332-9054-7715-e053-1705fe0a6cc9
|
93
|
|
The background of mitochondrial DNA haplogroup J increases the sensitivity of Leber's hereditary optic neuropathy cells to 2,5-hexanedione toxicity., file e1dcb331-a193-7715-e053-1705fe0a6cc9
|
92
|
|
miRNAs expression analysis in paired fresh/frozen and dissected formalin fixed and paraffin embedded glioblastoma using real-time pCR., file e1dcb32c-0ba1-7715-e053-1705fe0a6cc9
|
90
|
|
A novel null homozygous mutation confirms CACNA2D2 as a gene mutated in epileptic encephalopathy., file e1dcb332-b5c6-7715-e053-1705fe0a6cc9
|
89
|
|
Definition of miRNAs expression profile in glioblastoma samples: the relevance of non-neoplastic brain reference., file e1dcb32c-410e-7715-e053-1705fe0a6cc9
|
88
|
|
A wide range of 3243A>G/tRNALeu(UUR) (MELAS) mutation loads may segregate in offspring through the female germline bottleneck., file e1dcb32c-6608-7715-e053-1705fe0a6cc9
|
86
|
|
ATPase Domain AFG3L2 Mutations Alter OPA1 Processing and Cause Optic Neuropathy, file e1dcb337-6018-7715-e053-1705fe0a6cc9
|
80
|
|
Mitochondrial complex I and cell death: a semi-automatic shogun model, file e1dcb331-4570-7715-e053-1705fe0a6cc9
|
75
|
|
Haplogroup J mitogenomes are the most sensitive to the pesticide rotenone: Relevance for human diseases, file e1dcb331-57ea-7715-e053-1705fe0a6cc9
|
75
|
|
Gamma rays induce a p53-independent mitochondrial biogenesis that is counter-regulated by HIF1α., file e1dcb334-b0bd-7715-e053-1705fe0a6cc9
|
74
|
|
Calcium mishandling in absence of primary mitochondrial dysfunction drives cellular pathology in Wolfram Syndrome, file e1dcb335-e990-7715-e053-1705fe0a6cc9
|
69
|
|
Papillary thyroid carcinoma tall cell variant shares accumulation of mitochondria, mitochondrial DNA mutations, and loss of oxidative phosphorylation complex I integrity with oncocytic tumors, file e1dcb338-c741-7715-e053-1705fe0a6cc9
|
69
|
|
Mitochondrial retinopathies, file e1dcb33a-0f3c-7715-e053-1705fe0a6cc9
|
68
|
|
Macular microcysts in mitochondrial optic neuropathies: Prevalence and retinal layer thickness measurements, file e1dcb332-8e98-7715-e053-1705fe0a6cc9
|
65
|
|
Grand rounds: could occupational exposure to n-hexane and other solvents precipitate visual failure in leber hereditary optic neuropathy?, file e1dcb335-1fe2-7715-e053-1705fe0a6cc9
|
65
|
|
First TMEM126A missense mutation in an Italian proband with optic atrophy and deafness, file e1dcb335-6b3b-7715-e053-1705fe0a6cc9
|
65
|
|
Respiratory complex I is essential to induce a Warburg profile in mitochondria-defective tumor cells, file e1dcb335-6de6-7715-e053-1705fe0a6cc9
|
65
|
|
Cigarette toxicity triggers Leber's hereditary optic neuropathy by affecting mtDNA copy number, oxidative phosphorylation and ROS detoxification pathways, file e1dcb335-7448-7715-e053-1705fe0a6cc9
|
65
|
|
Melanopsin Retinal Ganglion Cells and Pupil: Clinical Implications for Neuro-Ophthalmology, file e1dcb335-7177-7715-e053-1705fe0a6cc9
|
64
|
|
Homozygous NOTCH3 null mutation and impaired NOTCH3 signaling in recessive early-onset arteriopathy and cavitating leukoencephalopathy, file e1dcb335-6972-7715-e053-1705fe0a6cc9
|
63
|
|
Metabolomics hallmarks OPA1 variants correlating with their in-vitro phenotype and predicting clinical severity, file e1dcb335-6658-7715-e053-1705fe0a6cc9
|
60
|
|
Pharmacological Inhibition of Necroptosis Protects from Dopaminergic Neuronal Cell Death in Parkinson's Disease Models, file e1dcb335-7641-7715-e053-1705fe0a6cc9
|
58
|
|
Novel mutations in DNA2 associated with myopathy and mtDNA instability, file e1dcb334-bc36-7715-e053-1705fe0a6cc9
|
57
|
|
Chromatic Pupillometry in Isolated Rapid Eye Movement Sleep Behavior Disorder, file e1dcb339-dc1b-7715-e053-1705fe0a6cc9
|
57
|
|
Functional MRI study in a case of Charles Bonnet syndrome related to LHON, file e1dcb335-677c-7715-e053-1705fe0a6cc9
|
56
|
|
Patterns of retinal ganglion cell damage in neurodegenerative disorders: Parvocellular vs magnocellular degeneration in optical coherence tomography studies, file e1dcb335-70b4-7715-e053-1705fe0a6cc9
|
55
|
|
Hearing dysfunction in a large family affected by dominant optic atrophy (OPA8-related DOA): A human model of hidden auditory neuropathy, file e1dcb335-7ccf-7715-e053-1705fe0a6cc9
|
55
|
|
DNA methyltransferase 1 mutations and mitochondrial pathology: Is mtDNA methylated?, file e1dcb335-6977-7715-e053-1705fe0a6cc9
|
53
|
|
Rewiring of Glutamine Metabolism Is a Bioenergetic Adaptation of Human Cells with Mitochondrial DNA Mutations, file e1dcb338-8c68-7715-e053-1705fe0a6cc9
|
52
|
|
The glutamate/cystine xCT antiporter antagonizes glutamine metabolism and reduces nutrient flexibility, file e1dcb335-c363-7715-e053-1705fe0a6cc9
|
48
|
|
Changes in Choroidal Thickness follow the RNFL Changes in Leber's Hereditary Optic Neuropathy, file e1dcb336-050d-7715-e053-1705fe0a6cc9
|
46
|
|
Idebenone increases chance of stabilization/recovery of visual acuity in OPA1-dominant optic atrophy, file e1dcb337-527f-7715-e053-1705fe0a6cc9
|
46
|
|
Chromatic Pupillometry Findings in Alzheimer’s Disease, file e1dcb336-7b98-7715-e053-1705fe0a6cc9
|
44
|
|
Syndromic parkinsonism and dementia associated with OPA1 missense mutations, file e1dcb337-b68e-7715-e053-1705fe0a6cc9
|
44
|
|
Liver transplantation for mitochondrial neurogastrointestinal encephalomyopathy, file e1dcb339-ea5f-7715-e053-1705fe0a6cc9
|
44
|
|
Retinal ganglion cells and circadian rhythms in Alzheimer's disease, Parkinson's disease, and beyond, file e1dcb335-6800-7715-e053-1705fe0a6cc9
|
43
|
|
Melanopsin retinal ganglion cell loss in Alzheimer's disease, file e1dcb338-70c8-7715-e053-1705fe0a6cc9
|
43
|
|
Mutations in SLC25A46, encoding a UGO1-like protein, cause an optic atrophy spectrum disorder, file e1dcb338-854c-7715-e053-1705fe0a6cc9
|
40
|
|
Exploring metabolic adaptations to the acidic microenvironment of osteosarcoma cells unveils sphingosine 1-phosphate as a valuable therapeutic target, file e1dcb337-930b-7715-e053-1705fe0a6cc9
|
37
|
|
Missense PDSS1 mutations in CoenzymeQ10 synthesis cause optic atrophy and sensorineural deafness, file e1dcb337-49c7-7715-e053-1705fe0a6cc9
|
36
|
|
Calcium mishandling in absence of primary mitochondrial dysfunction drives cellular pathology in Wolfram Syndrome, file e1dcb335-e991-7715-e053-1705fe0a6cc9
|
34
|
|
OPA1-related auditory neuropathy: site of lesion and outcome of cochlear implantation., file e1dcb338-411d-7715-e053-1705fe0a6cc9
|
31
|
|
The mitochondrial single-stranded DNA binding protein is essential for initiation of mtDNA replication, file c1ca28f6-7244-4438-b23f-6ea2d75dd28d
|
26
|
|
DNMT1 mutations leading to neurodegeneration paradoxically reflect on mitochondrial metabolism, file e1dcb339-8982-7715-e053-1705fe0a6cc9
|
21
|
|
DNMT1 mutations leading to neurodegeneration paradoxically reflect on mitochondrial metabolism, file e1dcb339-854a-7715-e053-1705fe0a6cc9
|
20
|
|
Adult-onset mitochondrial movement disorders: a national picture from the Italian Network, file e1dcb339-d4f2-7715-e053-1705fe0a6cc9
|
17
|
|
A neurodegenerative perspective on mitochondrial optic neuropathies, file e1dcb338-6ccf-7715-e053-1705fe0a6cc9
|
15
|
|
Brain MRS correlates with mitochondrial dysfunction biomarkers in MELAS-associated mtDNA mutations, file 991e2af6-7b87-4ae2-b311-b4884368f3c0
|
12
|
|
The relevance of mitochondrial DNA variants fluctuation during reprogramming and neuronal differentiation of human iPSCs, file dd9681d9-dec4-4639-a26d-ffa641ba9e82
|
12
|
|
Rare Primary Mitochondrial DNA Mutations and Probable Synergistic Variants in Leber's Hereditary Optic Neuropathy., file e1dcb332-6fb4-7715-e053-1705fe0a6cc9
|
12
|
|
Rare Primary Mitochondrial DNA Mutations and Probable Synergistic Variants in Leber's Hereditary Optic Neuropathy., file e1dcb332-7164-7715-e053-1705fe0a6cc9
|
12
|
|
Pharmacological Inhibition of Necroptosis Protects from Dopaminergic Neuronal Cell Death in Parkinson's Disease Models, file e1dcb335-76b2-7715-e053-1705fe0a6cc9
|
12
|
|
Adult-onset mitochondrial movement disorders: a national picture from the Italian Network, file e1dcb339-a268-7715-e053-1705fe0a6cc9
|
12
|
|
Rare Primary Mitochondrial DNA Mutations and Probable Synergistic Variants in Leber's Hereditary Optic Neuropathy., file e1dcb332-6fb5-7715-e053-1705fe0a6cc9
|
11
|
|
Rare Primary Mitochondrial DNA Mutations and Probable Synergistic Variants in Leber's Hereditary Optic Neuropathy., file e1dcb332-7165-7715-e053-1705fe0a6cc9
|
11
|
|
Rare Primary Mitochondrial DNA Mutations and Probable Synergistic Variants in Leber's Hereditary Optic Neuropathy., file e1dcb332-8ac7-7715-e053-1705fe0a6cc9
|
11
|
|
Dominant Optic Atrophy (DOA): Modeling the Kaleidoscopic Roles of OPA1 in Mitochondrial Homeostasis, file e1dcb339-8556-7715-e053-1705fe0a6cc9
|
11
|
|
Functional MRI study in a case of Charles Bonnet syndrome related to LHON, file e1dcb335-677d-7715-e053-1705fe0a6cc9
|
10
|
|
Leber's Hereditary Optic Neuropathy: A Report on Novel mtDNA Pathogenic Variants, file e1dcb339-cdf7-7715-e053-1705fe0a6cc9
|
10
|
|
Rapamycin rescues mitochondrial dysfunction in cells carrying the m.8344A > G mutation in the mitochondrial tRNALys, file 4cd55add-9309-4689-90da-118e29f63896
|
8
|
|
Editorial: Hereditary Optic Neuropathies: A New Perspective, file 74bc354f-c434-4b78-b2f8-751f9c3266b5
|
8
|
|
Rare Primary Mitochondrial DNA Mutations and Probable Synergistic Variants in Leber's Hereditary Optic Neuropathy., file e1dcb332-6fb3-7715-e053-1705fe0a6cc9
|
8
|
|
Impaired complex I repair causes recessive Leber's hereditary optic neuropathy, file 41414005-8459-4086-ba99-8618181bd26e
|
7
|
|
Anatomical Laser Microdissection of the Ileum Reveals mtDNA Depletion Recovery in A Mitochondrial Neuro-Gastrointestinal Encephalomyopathy (MNGIE) Patient Receiving Liver Transplant, file 4ba31a0b-c69b-4368-a4bd-1a4a3de402d7
|
7
|
|
Molecular mechanisms behind inherited neurodegeneration of the optic nerve, file 7ef38730-0ddb-4e9c-beb1-9dbad5ff0b51
|
7
|
|
Cigarette toxicity triggers Leber's hereditary optic neuropathy by affecting mtDNA copy number, oxidative phosphorylation and ROS detoxification pathways, file e1dcb335-35a2-7715-e053-1705fe0a6cc9
|
7
|
|
Drug repositioning as a therapeutic strategy for neurodegenerations associated with OPA1 mutations, file e1dcb337-3f6d-7715-e053-1705fe0a6cc9
|
7
|
|
New Insights on Rotenone Resistance of Complex I Induced by the m.11778G>A/MT-ND4 Mutation Associated with Leber’s Hereditary Optic Neuropathy, file 033fc350-5ac3-4063-90c8-43216097a97f
|
6
|
|
Epilepsy in MT-ATP6 - related mils/NARP: correlation of elettroclinical features with heteroplasmy, file 33ae66c6-dec6-4bea-ba0e-f260f2bb92d4
|
6
|
|
Epilepsy in MT-ATP6 - related mils/NARP: correlation of elettroclinical features with heteroplasmy, file abbcac98-9861-4d30-8566-19903ba80abc
|
6
|
|
OPA1 Links Human Mitochondrial Genome Maintenance to mtDNA Replication and Distribution, file e1dcb32d-2fe4-7715-e053-1705fe0a6cc9
|
6
|
|
Skeletal muscle pathology in MNGIE patients: blood vessels depletion, file e1dcb335-3059-7715-e053-1705fe0a6cc9
|
6
|
|
Papillary thyroid carcinoma tall cell variant shares accumulation of mitochondria, mitochondrial DNA mutations, and loss of oxidative phosphorylation complex I integrity with oncocytic tumors, file e1dcb33a-009b-7715-e053-1705fe0a6cc9
|
6
|
|
Papillary thyroid carcinoma tall cell variant shares accumulation of mitochondria, mitochondrial DNA mutations, and loss of oxidative phosphorylation complex I integrity with oncocytic tumors, file e1dcb33a-15d3-7715-e053-1705fe0a6cc9
|
6
|
|
Exploiting hiPSCs in Leber's Hereditary Optic Neuropathy (LHON): Present Achievements and Future Perspectives, file e7407959-fd81-4edb-ad5b-4fdb3d55b7a9
|
6
|
|
Pathological mitophagy disrupts mitochondrial homeostasis in Leber's hereditary optic neuropathy, file 03603a86-29f8-406d-9e5e-af6dc2a898e6
|
5
|
|
Case Report: Optic Atrophy and Nephropathy With m.13513G>A/MT-ND5 mtDNA Pathogenic Variant, file 6df86405-deb1-4e0e-aedb-074a5f3ed1c9
|
5
|
|
Metabolomics hallmarks OPA1 variants correlating with their in-vitro phenotype and predicting clinical severity, file e1dcb335-6659-7715-e053-1705fe0a6cc9
|
5
|
|
Dominant ACO2 mutations are a frequent cause of isolated optic atrophy, file fcbf641c-079f-40b2-b1c2-d302f9cd4503
|
5
|
|
Association of rs3027178 polymorphism in the circadian clock gene PER1 with susceptibility to Alzheimer's disease and longevity in an Italian population, file 3346c2ef-3d41-4049-8041-71c6118f2356
|
4
|
|
Electrocochleography in Auditory Neuropathy Related to Mutations in the OTOF or OPA1 Gene, file 752c5032-f464-493e-be64-5b41f73a58a9
|
4
|
|
Dominant ACO2 mutations are a frequent cause of isolated optic atrophy, file 757cb92b-81a7-48ea-bc1d-26f5021462e1
|
4
|
|
Intravitreal Gene Therapy vs. Natural History in Patients With Leber Hereditary Optic Neuropathy Carrying the m.11778G>A ND4 Mutation: Systematic Review and Indirect Comparison, file 7982e1c1-24b1-4406-a46e-7f18b5bc167e
|
4
|
|
Movement disorders in children with a mitochondrial disease: A cross-sectional survey from the nationwide italian collaborative network of mitochondrial diseases, file 87f0e39a-c551-423b-92b5-a3b1574a4f8c
|
4
|
|
Brain MRS correlates with mitochondrial dysfunction biomarkers in MELAS-associated mtDNA mutations, file c9cd2ce1-9426-43ef-8771-55c866e1f063
|
4
|
|
A second case with the V374A KCND3 pathogenic variant in an Italian patient with early-onset spinocerebellar ataxia, file d9b01d44-d0cd-4ddb-bcd8-5927c83d5c80
|
4
|
|
Novel mutations in DNA2 associated with myopathy and mtDNA instability, file e1dcb334-a5b4-7715-e053-1705fe0a6cc9
|
4
|
|
Respiratory complex I is essential to induce a Warburg profile in mitochondria-defective tumor cells, file e1dcb335-6a6a-7715-e053-1705fe0a6cc9
|
4
|
|
Biallelic variants in LIG3 cause a novel mitochondrial neurogastrointestinal encephalomyopathy, file e1dcb338-a379-7715-e053-1705fe0a6cc9
|
4
|
| Totale |
4237 |