| Nome |
# |
|
Longitudinal Study of Optic Disk Perfusion and Retinal Structure in Leber's Hereditary Optic Neuropathy, file aa6e7095-60df-4139-879f-ac947ae41b90
|
452
|
|
Rare Primary Mitochondrial DNA Mutations and Probable Synergistic Variants in Leber's Hereditary Optic Neuropathy., file e1dcb332-d65a-7715-e053-1705fe0a6cc9
|
268
|
|
Deciphering OPA1 mutations pathogenicity by combined analysis of human, mouse and yeast cell models, file e1dcb331-3922-7715-e053-1705fe0a6cc9
|
249
|
|
Association of the mtDNA m.4171C>A/MT-ND1 mutation with both optic neuropathy and bilateral brainstem lesions, file e1dcb333-1df5-7715-e053-1705fe0a6cc9
|
134
|
|
Secondary post-geniculate involvement in Leber's hereditary optic neuropathy., file e1dcb332-9054-7715-e053-1705fe0a6cc9
|
97
|
|
Chromatic Pupillometry in Isolated Rapid Eye Movement Sleep Behavior Disorder, file e1dcb339-dc1b-7715-e053-1705fe0a6cc9
|
96
|
|
ATPase Domain AFG3L2 Mutations Alter OPA1 Processing and Cause Optic Neuropathy, file e1dcb337-6018-7715-e053-1705fe0a6cc9
|
93
|
|
Epilepsy in MT-ATP6 - related mils/NARP: correlation of elettroclinical features with heteroplasmy, file 33ae66c6-dec6-4bea-ba0e-f260f2bb92d4
|
88
|
|
Melanopsin Retinal Ganglion Cells and Pupil: Clinical Implications for Neuro-Ophthalmology, file e1dcb335-7177-7715-e053-1705fe0a6cc9
|
81
|
|
Calcium mishandling in absence of primary mitochondrial dysfunction drives cellular pathology in Wolfram Syndrome, file e1dcb335-e990-7715-e053-1705fe0a6cc9
|
79
|
|
Melanopsin retinal ganglion cell loss in Alzheimer's disease, file e1dcb338-70c8-7715-e053-1705fe0a6cc9
|
79
|
|
Idiopathic intracranial hypertension without papilledema (IIHWOP) in chronic refractory headache, file e1dcb335-3f1f-7715-e053-1705fe0a6cc9
|
77
|
|
Bilateral visual improvement with unilateral gene therapy injection for Leber hereditary optic neuropathy, file 86984292-e5f1-4f43-8650-95bb5dbb5f13
|
74
|
|
Pupillometry evaluation of melanopsin retinal ganglion cell function and sleep-wake activity in pre-symptomatic Alzheimer's disease, file e1dcb334-f351-7715-e053-1705fe0a6cc9
|
73
|
|
First TMEM126A missense mutation in an Italian proband with optic atrophy and deafness, file e1dcb335-6b3b-7715-e053-1705fe0a6cc9
|
73
|
|
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
|
72
|
|
Macular microcysts in mitochondrial optic neuropathies: Prevalence and retinal layer thickness measurements, file e1dcb332-8e98-7715-e053-1705fe0a6cc9
|
70
|
|
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
|
66
|
|
Functional MRI study in a case of Charles Bonnet syndrome related to LHON, file e1dcb335-677c-7715-e053-1705fe0a6cc9
|
63
|
|
Patterns of retinal ganglion cell damage in neurodegenerative disorders: Parvocellular vs magnocellular degeneration in optical coherence tomography studies, file e1dcb335-70b4-7715-e053-1705fe0a6cc9
|
62
|
|
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
|
61
|
|
Idebenone increases chance of stabilization/recovery of visual acuity in OPA1-dominant optic atrophy, file e1dcb337-527f-7715-e053-1705fe0a6cc9
|
59
|
|
Changes in Choroidal Thickness follow the RNFL Changes in Leber's Hereditary Optic Neuropathy, file e1dcb336-050d-7715-e053-1705fe0a6cc9
|
58
|
|
Syndromic parkinsonism and dementia associated with OPA1 missense mutations, file e1dcb337-b68e-7715-e053-1705fe0a6cc9
|
56
|
|
Transverse Sinus Stenosis in Refractory Chronic Headache Patients: An Observational Study, file e1dcb335-575b-7715-e053-1705fe0a6cc9
|
55
|
|
Chromatic Pupillometry Findings in Alzheimer’s Disease, file e1dcb336-7b98-7715-e053-1705fe0a6cc9
|
54
|
|
Retinal ganglion cells and circadian rhythms in Alzheimer's disease, Parkinson's disease, and beyond, file e1dcb335-6800-7715-e053-1705fe0a6cc9
|
53
|
|
Mutations in SLC25A46, encoding a UGO1-like protein, cause an optic atrophy spectrum disorder, file e1dcb338-854c-7715-e053-1705fe0a6cc9
|
46
|
|
Calcium mishandling in absence of primary mitochondrial dysfunction drives cellular pathology in Wolfram Syndrome, file e1dcb335-e991-7715-e053-1705fe0a6cc9
|
44
|
|
OPA1-related auditory neuropathy: site of lesion and outcome of cochlear implantation., file e1dcb338-411d-7715-e053-1705fe0a6cc9
|
37
|
|
Capturing the Pattern of Transition From Carrier to Affected in Leber Hereditary Optic Neuropathy, file b6337f74-a3a4-4f3e-97ca-328c4489d47d
|
34
|
|
DNMT1 mutations leading to neurodegeneration paradoxically reflect on mitochondrial metabolism, file e1dcb339-8982-7715-e053-1705fe0a6cc9
|
34
|
|
Pathological mitophagy disrupts mitochondrial homeostasis in Leber's hereditary optic neuropathy, file 03603a86-29f8-406d-9e5e-af6dc2a898e6
|
32
|
|
Rapamycin rescues mitochondrial dysfunction in cells carrying the m.8344A > G mutation in the mitochondrial tRNALys, file 4cd55add-9309-4689-90da-118e29f63896
|
32
|
|
A second case with the V374A KCND3 pathogenic variant in an Italian patient with early-onset spinocerebellar ataxia, file d9b01d44-d0cd-4ddb-bcd8-5927c83d5c80
|
31
|
|
Adult-onset mitochondrial movement disorders: a national picture from the Italian Network, file e1dcb339-d4f2-7715-e053-1705fe0a6cc9
|
30
|
|
DNMT1 mutations leading to neurodegeneration paradoxically reflect on mitochondrial metabolism, file e1dcb339-854a-7715-e053-1705fe0a6cc9
|
27
|
|
Mammalian RNase H1 directs RNA primer formation for mtDNA replication initiation and is also necessary for mtDNA replication completion, file b0ae3e63-5e64-4119-8e60-b433e2628da9
|
24
|
|
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
|
21
|
|
Case Report: Optic Atrophy and Nephropathy With m.13513G>A/MT-ND5 mtDNA Pathogenic Variant, file 6df86405-deb1-4e0e-aedb-074a5f3ed1c9
|
20
|
|
Brain MRS correlates with mitochondrial dysfunction biomarkers in MELAS-associated mtDNA mutations, file 991e2af6-7b87-4ae2-b311-b4884368f3c0
|
20
|
|
A neurodegenerative perspective on mitochondrial optic neuropathies, file e1dcb338-6ccf-7715-e053-1705fe0a6cc9
|
20
|
|
Electrocochleography in Auditory Neuropathy Related to Mutations in the OTOF or OPA1 Gene, file 752c5032-f464-493e-be64-5b41f73a58a9
|
19
|
|
Adult-onset mitochondrial movement disorders: a national picture from the Italian Network, file e1dcb339-a268-7715-e053-1705fe0a6cc9
|
19
|
|
Efficacy and Safety of Intravitreal Gene Therapy for Leber Hereditary Optic Neuropathy Treated within 6 Months of Disease Onset, file e9cd0ab0-19ab-4226-9df5-697bfce10e12
|
19
|
|
Rare Primary Mitochondrial DNA Mutations and Probable Synergistic Variants in Leber's Hereditary Optic Neuropathy., file e1dcb332-6fb4-7715-e053-1705fe0a6cc9
|
18
|
|
Peculiar combinations of individually non-pathogenic missense mitochondrial DNA variants cause low penetrance Leber's hereditary optic neuropathy, file 668c9708-4cc7-4fa6-99b2-459818c1040d
|
17
|
|
Leber's Hereditary Optic Neuropathy: A Report on Novel mtDNA Pathogenic Variants, file e1dcb339-cdf7-7715-e053-1705fe0a6cc9
|
16
|
|
Editorial: Hereditary Optic Neuropathies: A New Perspective, file 74bc354f-c434-4b78-b2f8-751f9c3266b5
|
15
|
|
Longitudinal Study of Optic Disk Perfusion and Retinal Structure in Leber's Hereditary Optic Neuropathy, file 000d09e6-9432-44fa-b7d5-c45d3d8b782f
|
14
|
|
Brain MRS correlates with mitochondrial dysfunction biomarkers in MELAS-associated mtDNA mutations, file c9cd2ce1-9426-43ef-8771-55c866e1f063
|
14
|
|
Mutations in the m-AAA proteases AFG3L2 and SPG7 are causing isolated dominant optic atrophy, file 83635cdf-562e-458a-8ed3-92987f0db01a
|
13
|
|
Rare Primary Mitochondrial DNA Mutations and Probable Synergistic Variants in Leber's Hereditary Optic Neuropathy., file e1dcb332-6fb5-7715-e053-1705fe0a6cc9
|
13
|
|
Rare Primary Mitochondrial DNA Mutations and Probable Synergistic Variants in Leber's Hereditary Optic Neuropathy., file e1dcb332-7164-7715-e053-1705fe0a6cc9
|
13
|
|
Impaired complex I repair causes recessive Leber's hereditary optic neuropathy, file 41414005-8459-4086-ba99-8618181bd26e
|
12
|
|
Co-occurrence of amyotrophic lateral sclerosis and Leber's hereditary optic neuropathy: is mitochondrial dysfunction a modifier?, file 484e79cd-b474-4850-982d-1082af2fc233
|
12
|
|
Rare Primary Mitochondrial DNA Mutations and Probable Synergistic Variants in Leber's Hereditary Optic Neuropathy., file e1dcb332-7165-7715-e053-1705fe0a6cc9
|
12
|
|
Rare Primary Mitochondrial DNA Mutations and Probable Synergistic Variants in Leber's Hereditary Optic Neuropathy., file e1dcb332-8ac7-7715-e053-1705fe0a6cc9
|
12
|
|
A neurodegenerative perspective on mitochondrial optic neuropathies, file e1dcb338-31c6-7715-e053-1705fe0a6cc9
|
12
|
|
Multishell Diffusion MR Tractography Yields Morphological and Microstructural Information of the Anterior Optic Pathway: A Proof-of-Concept Study in Patients with Leber’s Hereditary Optic Neuropathy, file 6aff7859-4b14-45b3-be5e-b2c79e6ef3bb
|
11
|
|
Multimodal investigation of melanopsin retinal ganglion cells in Alzheimer's disease, file 01728f09-c86e-417c-a0a8-2b7d170d1824
|
10
|
|
Rapamycin rescues mitochondrial dysfunction in cells carrying the m.8344A > G mutation in the mitochondrial tRNALys, file 51cca6c1-8f49-4d07-9999-5186b9ccd89c
|
10
|
|
Autozygosity-driven genetic diagnosis in consanguineous families from Italy and the Greater Middle East, file dfa86ccc-b1cc-4c73-9ddd-582bcfb305ab
|
10
|
|
Functional MRI study in a case of Charles Bonnet syndrome related to LHON, file e1dcb335-677d-7715-e053-1705fe0a6cc9
|
10
|
|
Dominant ACO2 mutations are a frequent cause of isolated optic atrophy, file 757cb92b-81a7-48ea-bc1d-26f5021462e1
|
9
|
|
Epilepsy in MT-ATP6 - related mils/NARP: correlation of elettroclinical features with heteroplasmy, file abbcac98-9861-4d30-8566-19903ba80abc
|
9
|
|
Rare Primary Mitochondrial DNA Mutations and Probable Synergistic Variants in Leber's Hereditary Optic Neuropathy., file e1dcb332-6fb3-7715-e053-1705fe0a6cc9
|
9
|
|
Pupillometry evaluation of melanopsin retinal ganglion cell function and sleep-wake activity in pre-symptomatic Alzheimer's disease, file e1dcb335-6ab0-7715-e053-1705fe0a6cc9
|
9
|
|
Therapeutic Options in Hereditary Optic Neuropathies, file 05c9dbff-43fa-4121-90f6-9f79d14a13f9
|
8
|
|
Mutations in SLC25A46, encoding a UGO1-like protein, cause an optic atrophy spectrum disorder, file e1dcb338-854d-7715-e053-1705fe0a6cc9
|
8
|
|
Chromatic Pupillometry in Isolated Rapid Eye Movement Sleep Behavior Disorder, file e1dcb339-9dda-7715-e053-1705fe0a6cc9
|
8
|
|
Dominant ACO2 mutations are a frequent cause of isolated optic atrophy, file fcbf641c-079f-40b2-b1c2-d302f9cd4503
|
8
|
|
TWNK in Parkinson's Disease: A Movement Disorder and Mitochondrial Disease Center Perspective Study, file 01895ad5-83e7-433b-946c-f4f1af69d224
|
7
|
|
Long-Term Follow-Up After Unilateral Intravitreal Gene Therapy for Leber Hereditary Optic Neuropathy: The RESTORE Study, file 51752461-a92f-49ef-89bb-e1af125f5756
|
7
|
|
The Acute Optic Neuritis Network (ACON): Study protocol of a non-interventional prospective multicenter study on diagnosis and treatment of acute optic neuritis, file db57b181-94a1-4a7a-95eb-8c3f22f6dc59
|
7
|
|
Mammalian RNase H1 directs RNA primer formation for mtDNA replication initiation and is also necessary for mtDNA replication completion, file 7744c300-e6d1-483e-917b-3670fee9f363
|
6
|
|
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
|
6
|
|
Expanding and validating the biomarkers for mitochondrial diseases, file cae163c1-9f41-430a-8077-623669104c81
|
6
|
|
Author Correction: Calcium mishandling in absence of primary mitochondrial dysfunction drives cellular pathology in Wolfram Syndrome (Scientific Reports, (2020), 10, 1, (4785), 10.1038/s41598-020-61735-3), file e1888d3c-8e19-424a-b20a-526b407fefff
|
6
|
|
Indirect Comparison of Lenadogene Nolparvovec Gene Therapy Versus Natural History in Patients with Leber Hereditary Optic Neuropathy Carrying the m.11778G>A MT-ND4 Mutation, file cb16b119-11e3-4fdb-b575-90a6a72a835a
|
5
|
|
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
|
5
|
|
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
|
|
SSBP1 mutations cause mtDNA depletion underlying a complex optic atrophy disorder, file 7e62d7bc-3575-4815-bcaa-aa5a011395b6
|
3
|
|
The Acute Optic Neuritis Network (ACON): Study protocol of a non-interventional prospective multicenter study on diagnosis and treatment of acute optic neuritis, file 9081803b-e172-40fe-b94f-e39d6d45d473
|
3
|
|
Mutations in SLC25A46, encoding a UGO1-like protein, cause an optic atrophy spectrum disorder, file e1dcb338-4c25-7715-e053-1705fe0a6cc9
|
3
|
|
Leber's Hereditary Optic Neuropathy: A Report on Novel mtDNA Pathogenic Variants, file e1dcb339-ca6d-7715-e053-1705fe0a6cc9
|
3
|
|
Natural history of patients with Leber hereditary optic neuropathy—results from the REALITY study, file fe079931-7615-40f9-94ee-bb2d164c9249
|
3
|
|
Retinal vascular impairment in Wolfram syndrome: an optical coherence tomography angiography study, file 0652f11f-4369-4a8e-8c71-68329a1361d1
|
2
|
|
Expanding and validating the biomarkers for mitochondrial diseases, file 264a49ca-e5bb-4d4e-92c3-900ce1890aae
|
2
|
|
Impaired complex I repair causes recessive Leber's hereditary optic neuropathy, file 5b50056e-caa5-4a5c-9981-5f08ce7734da
|
2
|
|
TWNK in Parkinson's Disease: A Movement Disorder and Mitochondrial Disease Center Perspective Study, file c09b5a4e-43d9-4f86-a559-cf4a1c54759b
|
2
|
|
Capturing the Pattern of Transition From Carrier to Affected in Leber Hereditary Optic Neuropathy, file d003dff9-53bb-444e-9947-db45553d993e
|
2
|
|
'Behr syndrome' with OPA1 compound heterozygote mutations, file e1dcb32c-d9ac-7715-e053-1705fe0a6cc9
|
2
|
|
Chromatic pupillometry for evaluating melanopsin retinal ganglion cell function in Alzheimer's disease and other neurodegenerative disorders: a review, file 27dde69d-e000-44e8-b6b5-cfc6034fbab2
|
1
|
|
Efficacy and Safety of Intravitreal Gene Therapy for Leber Hereditary Optic Neuropathy Treated within 6 Months of Disease Onset, file 38274cd7-1a10-48d5-8bc9-0291312b3824
|
1
|
|
Indirect Comparison of Lenadogene Nolparvovec Gene Therapy Versus Natural History in Patients with Leber Hereditary Optic Neuropathy Carrying the m.11778G>A MT-ND4 Mutation, file 682d7603-bcda-468a-9225-d0c6dce0d4af
|
1
|
|
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 7d70c10a-5b6d-4872-8f2c-c487b537ee4e
|
1
|
|
Recessive MECR pathogenic variants cause an LHON-like optic neuropathy, file b2dbf165-1bd9-4cfc-8a4b-4b2799a5c8ce
|
1
|
|
Genetic variants affecting NQO1 protein levels impact the efficacy of idebenone treatment in Leber hereditary optic neuropathy, file e15aa02c-a493-441d-affe-c2923b74fe51
|
1
|
|
Recessive MECR pathogenic variants cause an LHON-like optic neuropathy, file e1adc950-580e-481e-8800-5242a8ff5c31
|
1
|
| Totale |
3.656 |