| Nome |
# |
|
Deciphering OPA1 mutations pathogenicity by combined analysis of human, mouse and yeast cell models, file e1dcb331-3922-7715-e053-1705fe0a6cc9
|
249
|
|
Infant and Adult Gut Microbiome and Metabolome in Rural Bassa and Urban Settlers from Nigeria, file e1dcb331-451f-7715-e053-1705fe0a6cc9
|
240
|
|
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
|
151
|
|
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
|
136
|
|
Liver transplantation for mitochondrial neurogastrointestinal encephalomyopathy, file e1dcb339-ea5f-7715-e053-1705fe0a6cc9
|
136
|
|
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
|
|
Haplogroup J mitogenomes are the most sensitive to the pesticide rotenone: Relevance for human diseases, file e1dcb331-57ea-7715-e053-1705fe0a6cc9
|
126
|
|
OPA1 Isoforms in the Hierarchical Organization of Mitochondrial Functions, file e1dcb331-5546-7715-e053-1705fe0a6cc9
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124
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|
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
|
89
|
|
Calcium mishandling in absence of primary mitochondrial dysfunction drives cellular pathology in Wolfram Syndrome, file e1dcb335-e990-7715-e053-1705fe0a6cc9
|
79
|
|
First TMEM126A missense mutation in an Italian proband with optic atrophy and deafness, file e1dcb335-6b3b-7715-e053-1705fe0a6cc9
|
73
|
|
DNA methyltransferase 1 mutations and mitochondrial pathology: Is mtDNA methylated?, file e1dcb335-6977-7715-e053-1705fe0a6cc9
|
66
|
|
Novel mutations in DNA2 associated with myopathy and mtDNA instability, file e1dcb334-bc36-7715-e053-1705fe0a6cc9
|
64
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Pharmacological Inhibition of Necroptosis Protects from Dopaminergic Neuronal Cell Death in Parkinson's Disease Models, file e1dcb335-7641-7715-e053-1705fe0a6cc9
|
64
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|
Syndromic parkinsonism and dementia associated with OPA1 missense mutations, file e1dcb337-b68e-7715-e053-1705fe0a6cc9
|
56
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|
Calcium mishandling in absence of primary mitochondrial dysfunction drives cellular pathology in Wolfram Syndrome, file e1dcb335-e991-7715-e053-1705fe0a6cc9
|
44
|
|
Missense PDSS1 mutations in CoenzymeQ10 synthesis cause optic atrophy and sensorineural deafness, file e1dcb337-49c7-7715-e053-1705fe0a6cc9
|
42
|
|
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
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DNMT1 mutations leading to neurodegeneration paradoxically reflect on mitochondrial metabolism, file e1dcb339-8982-7715-e053-1705fe0a6cc9
|
34
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Pathological mitophagy disrupts mitochondrial homeostasis in Leber's hereditary optic neuropathy, file 03603a86-29f8-406d-9e5e-af6dc2a898e6
|
32
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Rapamycin rescues mitochondrial dysfunction in cells carrying the m.8344A > G mutation in the mitochondrial tRNALys, file 4cd55add-9309-4689-90da-118e29f63896
|
32
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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
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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
|
27
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DNMT1 mutations leading to neurodegeneration paradoxically reflect on mitochondrial metabolism, file e1dcb339-854a-7715-e053-1705fe0a6cc9
|
27
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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
|
25
|
|
The relevance of mitochondrial DNA variants fluctuation during reprogramming and neuronal differentiation of human iPSCs, file dd9681d9-dec4-4639-a26d-ffa641ba9e82
|
24
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|
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
|
22
|
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Case Report: Optic Atrophy and Nephropathy With m.13513G>A/MT-ND5 mtDNA Pathogenic Variant, file 6df86405-deb1-4e0e-aedb-074a5f3ed1c9
|
21
|
|
Brain MRS correlates with mitochondrial dysfunction biomarkers in MELAS-associated mtDNA mutations, file 991e2af6-7b87-4ae2-b311-b4884368f3c0
|
20
|
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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
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Leber's Hereditary Optic Neuropathy: A Report on Novel mtDNA Pathogenic Variants, file e1dcb339-cdf7-7715-e053-1705fe0a6cc9
|
16
|
|
Dissecting the multifaceted contribution of the mitochondrial genome to autism spectrum disorder, file 25c79b53-f2dd-4e15-818c-7c1235da3d2d
|
15
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|
Pharmacological Inhibition of Necroptosis Protects from Dopaminergic Neuronal Cell Death in Parkinson's Disease Models, file e1dcb335-76b2-7715-e053-1705fe0a6cc9
|
15
|
|
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
|
|
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
|
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
|
|
Case Report: Rare Homozygous RNASEH1 Mutations Associated With Adult-Onset Mitochondrial Encephalomyopathy and Multiple Mitochondrial DNA Deletions, file 12881038-ca27-40fa-9dff-f2058549a1b6
|
11
|
|
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
|
11
|
|
Rapamycin rescues mitochondrial dysfunction in cells carrying the m.8344A > G mutation in the mitochondrial tRNALys, file 51cca6c1-8f49-4d07-9999-5186b9ccd89c
|
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
|
|
TYMP Variants Result in Late-Onset Mitochondrial Myopathy With Altered Muscle Mitochondrial DNA Homeostasis, file 71de173a-85eb-4f49-a82d-618e43e49dd5
|
8
|
|
The Mitogenome Relationships and Phylogeography of Barn Swallows (Hirundo rustica), file afb4c0a5-526b-4e9f-9a39-51f0b6678722
|
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
|
|
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
|
|
The relevance of migraine in the clinical spectrum of mitochondrial disorders, file 8277f8ec-3493-4953-93ff-12b3c80ab0d7
|
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
|
|
Novel mutations in DNA2 associated with myopathy and mtDNA instability, file e1dcb334-a5b4-7715-e053-1705fe0a6cc9
|
6
|
|
SSBP1 mutations cause mtDNA depletion underlying a complex optic atrophy disorder, file 7e62d7bc-3575-4815-bcaa-aa5a011395b6
|
3
|
|
ITA-MNGIE: an Italian regional and national survey for mitochondrial neuro-gastro-intestinal encephalomyopathy., file e1dcb32d-f99b-7715-e053-1705fe0a6cc9
|
3
|
|
Somatic mutation profiling of hobnail variant of papillary thyroid carcinoma, file e1dcb32f-36b8-7715-e053-1705fe0a6cc9
|
3
|
|
Leber's Hereditary Optic Neuropathy: A Report on Novel mtDNA Pathogenic Variants, file e1dcb339-ca6d-7715-e053-1705fe0a6cc9
|
3
|
|
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
|
|
null, file e1dcb330-766c-7715-e053-1705fe0a6cc9
|
2
|
|
Case Report: Rare Homozygous RNASEH1 Mutations Associated With Adult-Onset Mitochondrial Encephalomyopathy and Multiple Mitochondrial DNA Deletions, file 3a64320c-c0a8-44b3-bdea-8e35ec2f1d02
|
1
|
|
TYMP Variants Result in Late-Onset Mitochondrial Myopathy With Altered Muscle Mitochondrial DNA Homeostasis, file 427d895e-53cb-45a3-97d5-551611f83089
|
1
|
|
The genetic puzzle of a SOD1-patient with ocular ptosis and a motor neuron disease: a case report, file af7bcd63-1adb-4c8d-9b15-7a3db0981352
|
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
|
|
Liver transplantation for mitochondrial neurogastrointestinal encephalomyopathy, file e1dcb32f-a5eb-7715-e053-1705fe0a6cc9
|
1
|
|
Liver transplantation in mitochondrial neurogastrointestinal encephalomyopathy (MNGIE): clinical long-term follow-up and pathogenic implications, file e1dcb336-1ef8-7715-e053-1705fe0a6cc9
|
1
|
|
The Italian reappraisal of the most frequent genetic defects in hereditary optic neuropathies and the global top 10, file ec746c72-1580-401f-afcc-94f0f013d443
|
1
|
| Totale |
2.595 |