| Nome |
# |
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Concurrent AFG3L2 and SPG7 mutations associated with syndromic parkinsonism and optic atrophy with aberrant OPA1 processing and mitochondrial network fragmentation, file dfa8b99b-dfba-748b-e053-3a05fe0a3a96
|
555
|
|
Benign hereditary chorea and deletions outside NKX2-1 : what's the role of MBIP?, file dfa8b99b-bd28-748b-e053-3a05fe0a3a96
|
292
|
|
Leukoencephalopathy with thalamus and brainstem involvement and high lactate 'LTBL' caused by EARS2 mutations, file dfa8b9a4-1ea4-748b-e053-3a05fe0a3a96
|
273
|
|
Mutations in TIMM50 compromise cell survival in OxPhos-dependent metabolic conditions, file dfa8b99c-bc97-748b-e053-3a05fe0a3a96
|
207
|
|
Genetic diagnosis of Mendelian disorders via RNA sequencing, file dfa8b999-115a-748b-e053-3a05fe0a3a96
|
198
|
|
COQ4 mutations cause a broad spectrum of mitochondrial disorders associated with CoQ10 deficiency, file dfa8b999-3891-748b-e053-3a05fe0a3a96
|
196
|
|
Clinical-genetic features and peculiar muscle histopathology in infantile DNM1L-related mitochondrial epileptic encephalopathy, file dfa8b99d-71f0-748b-e053-3a05fe0a3a96
|
190
|
|
Myoclonus-dystonia syndrome: Clinical presentation, disease course, and genetic features in 11 families, file dfa8b9a5-94ee-748b-e053-3a05fe0a3a96
|
183
|
|
APOPT1/COA8 assists COX assembly and is oppositely regulated by UPS and ROS, file dfa8b99c-feef-748b-e053-3a05fe0a3a96
|
180
|
|
Novel (ovario) leukodystrophy related to AARS2 mutations, file dfa8b999-5e56-748b-e053-3a05fe0a3a96
|
173
|
|
Mitochondrial DNA haplogroup K is associated with lower risk of Parkinson's disease in Italians, file dfa8b9a4-691c-748b-e053-3a05fe0a3a96
|
164
|
|
A slowly progressive mitochondrial encephalomyopathy widens the spectrum of AIFM1 disorders, file dfa8b999-2655-748b-e053-3a05fe0a3a96
|
162
|
|
Clinical, biochemical and genetic spectrum of 70 patients with ACAD9 deficiency: Is riboflavin supplementation effective?, file dfa8b99b-d7c0-748b-e053-3a05fe0a3a96
|
162
|
|
COA7 (C1orf163/RESA1) mutations associated with mitochondrial leukoencephalopathy and cytochrome c oxidase deficiency, file dfa8b999-14fd-748b-e053-3a05fe0a3a96
|
160
|
|
Not only dominant, not only optic atrophy : expanding the clinical spectrum associated with OPA1 mutations, file dfa8b999-59db-748b-e053-3a05fe0a3a96
|
157
|
|
SURF1 deficiency causes demyelinating Charcot-Marie-Tooth disease, file dfa8b999-7d8f-748b-e053-3a05fe0a3a96
|
149
|
|
The zebrafish orthologue of the human hepatocerebral disease gene MPV17 plays pleiotropic roles in mitochondria, file dfa8b99d-d131-748b-e053-3a05fe0a3a96
|
148
|
|
Functionally pathogenic EARS2 variants in vitro may not manifest a phenotype in vivo, file dfa8b999-cb8b-748b-e053-3a05fe0a3a96
|
142
|
|
A novel mutation in TTC19 associated with isolated complex III deficiency, cerebellar hypoplasia, and bilateral basal ganglia lesions, file dfa8b999-93f5-748b-e053-3a05fe0a3a96
|
138
|
|
Clinicopathologic and molecular spectrum of RNASEH1-related mitochondrial disease, file dfa8b999-cb8a-748b-e053-3a05fe0a3a96
|
138
|
|
Mutations in APOPT1, encoding a mitochondrial protein, cause cavitating leukoencephalopathy with cytochrome c oxidase deficiency, file dfa8b999-6b78-748b-e053-3a05fe0a3a96
|
135
|
|
The mitochondrial aminoacyl tRNA synthetases : Genes and syndromes, file dfa8b999-0fa6-748b-e053-3a05fe0a3a96
|
134
|
|
Clinical, neuroradiological and molecular characterization of mitochondrial threonyl-tRNA-synthetase (TARS2)-related disorder, file 0b799ac7-0880-4cfd-9e53-fc1a7562b212
|
133
|
|
Mitochondrial leukoencephalopathy and complex II deficiency associated with a recessive SDHB mutation with reduced penetrance, file dfa8b999-4b4a-748b-e053-3a05fe0a3a96
|
133
|
|
VARS2 and TARS2 Mutations in Patients with Mitochondrial Encephalomyopathies, file dfa8b999-4b4c-748b-e053-3a05fe0a3a96
|
132
|
|
The isolated carboxy-terminal domain of human mitochondrial leucyl-tRNA synthetase rescues the pathological phenotype of mitochondrial tRNA mutations in human cells, file dfa8b999-7656-748b-e053-3a05fe0a3a96
|
131
|
|
Clinical and Biochemical Features in a Patient With Mitochondrial Fission Factor Gene Alteration, file dfa8b99c-fef0-748b-e053-3a05fe0a3a96
|
131
|
|
Loss of apoptosis-inducing factor critically affects MIA40 function, file dfa8b999-422e-748b-e053-3a05fe0a3a96
|
129
|
|
A homozygous MRPL24 mutation causes a complex movement disorder and affects the mitoribosome assembly, file dfa8b9a2-033a-748b-e053-3a05fe0a3a96
|
129
|
|
KARS-related diseases: Progressive leukoencephalopathy with brainstem and spinal cord calcifications as new phenotype and a review of literature, file dfa8b99b-bd27-748b-e053-3a05fe0a3a96
|
126
|
|
Human diseases associated with defects in assembly of OXPHOS complexes, file dfa8b99b-d7c1-748b-e053-3a05fe0a3a96
|
125
|
|
ATPase Domain AFG3L2 Mutations Alter OPA1 Processing and Cause Optic Neuropathy, file dfa8b9a2-0336-748b-e053-3a05fe0a3a96
|
124
|
|
Adult-onset Alexander disease, associated with a mutation in an alternative GFAP transcript, may be phenotypically modulated by a non-neutral HDAC6 variant, file dfa8b999-b28e-748b-e053-3a05fe0a3a96
|
121
|
|
A nonsense mutation of human XRCC4 is associated with adult-onset progressive encephalocardiomyopathy, file dfa8b999-1249-748b-e053-3a05fe0a3a96
|
119
|
|
Cavitating leukoencephalopathy with multiple mitochondrial dysfunction syndrome and NFU1 mutations, file dfa8b999-7f5a-748b-e053-3a05fe0a3a96
|
119
|
|
New missense variants of NDUFA11 associated with late-onset myopathy, file dfa8b99e-6023-748b-e053-3a05fe0a3a96
|
119
|
|
Mitochondrial dysfunction in Parkinson disease: Evidence in mutant PARK2 fibroblasts, file dfa8b999-2e04-748b-e053-3a05fe0a3a96
|
113
|
|
Mitochondrial Complex III Deficiency Caused by TTC19 Defects : Report of a Novel Mutation and Review of Literature, file dfa8b9a0-78a9-748b-e053-3a05fe0a3a96
|
112
|
|
Clinical, biochemical, and genetic features associated with VARS2-related mitochondrial disease, file dfa8b99a-ade7-748b-e053-3a05fe0a3a96
|
110
|
|
Severe X-Linked Mitochondrial Encephalomyopathy Associated with a Mutation in Apoptosis-Inducing Factor, file dfa8b9a6-4710-748b-e053-3a05fe0a3a96
|
109
|
|
The impairment of HCCS leads to MLS syndrome by activating a non-canonical cell death pathway in the brain and eyes, file dfa8b999-c8fa-748b-e053-3a05fe0a3a96
|
108
|
|
Bi-allelic LETM1 variants perturb mitochondrial ion homeostasis leading to a clinical spectrum with predominant nervous system involvement, file 3693c05a-44b8-4a90-93f1-31cde964ecf7
|
104
|
|
PINK1 heterozygous rare variants: Prevalence, significance and phenotypic spectrum, file dfa8b9a4-3f99-748b-e053-3a05fe0a3a96
|
104
|
|
LYRM7 mutations cause a multifocal cavitating leukoencephalopathy with distinct MRI appearance, file dfa8b999-1ff6-748b-e053-3a05fe0a3a96
|
103
|
|
Expanding the phenotypic spectrum of BCS1L-related mitochondrial disease, file dfa8b9a9-cd38-748b-e053-3a05fe0a3a96
|
100
|
|
Mutations in ELAC2 associated with hypertrophic cardiomyopathy impair mitochondrial tRNA 3'-end processing, file dfa8b99d-d13a-748b-e053-3a05fe0a3a96
|
89
|
|
Sym1, the yeast ortholog of the MPV17 human disease protein, is a stress-induced bioenergetic and morphogenetic mitochondrial modulator, file dfa8b9a4-2a6b-748b-e053-3a05fe0a3a96
|
84
|
|
Paroxysmal non-kinesigenic dyskinesia is caused by mutations of the MR-1 mitochondrial targeting sequence, file dfa8b9a4-078d-748b-e053-3a05fe0a3a96
|
81
|
|
A novel de novo dominant mutation in ISCU associated with mitochondrial myopathy, file dfa8b99a-b097-748b-e053-3a05fe0a3a96
|
80
|
|
Leber's hereditary optic neuropathy : A report on novel mtDNA pathogenic variants, file dfa8b9a7-bd7d-748b-e053-3a05fe0a3a96
|
70
|
|
Cowchock syndrome is associated with a mutation in apoptosis-inducing factor, file dfa8b9a4-0202-748b-e053-3a05fe0a3a96
|
69
|
|
A novel homozygous mutation in SUCLA2 gene identified by exome sequencing, file dfa8b9a3-e72c-748b-e053-3a05fe0a3a96
|
61
|
|
Exploiting pyocyanin to treat mitochondrial disease due to respiratory complex III dysfunction, file dfa8b9a8-23ad-748b-e053-3a05fe0a3a96
|
57
|
|
Expert Panel Curation of 113 Primary Mitochondrial Disease Genes for the Leigh Syndrome Spectrum, file 8a4b0dc9-b901-45f9-b491-ddb3ec04b698
|
56
|
|
Mutations of the mitochondrial-tRNA modifier MTO1 cause hypertrophic cardiomyopathy and lactic acidosis, file dfa8b9a4-4075-748b-e053-3a05fe0a3a96
|
51
|
|
Role of PITRM1 in Mitochondrial Dysfunction and Neurodegeneration, file dfa8b9a7-7126-748b-e053-3a05fe0a3a96
|
51
|
|
Disease-causing SDHAF1 mutations impair transfer of Fe-S clusters to SDHB, file dfa8b999-3636-748b-e053-3a05fe0a3a96
|
49
|
|
A Clinical-Based Diagnostic Approach to Cerebellar Atrophy in Children, file dfa8b9a6-0e95-748b-e053-3a05fe0a3a96
|
48
|
|
RNASEH1 Mutations Impair mtDNA Replication and Cause Adult-Onset Mitochondrial Encephalomyopathy, file dfa8b995-d4bc-748b-e053-3a05fe0a3a96
|
47
|
|
Riboflavin-Responsive and -Non-responsive Mutations in FAD Synthase Cause Multiple Acyl-CoA Dehydrogenase and Combined Respiratory-Chain Deficiency, file dfa8b999-2652-748b-e053-3a05fe0a3a96
|
45
|
|
Impaired complex I repair causes recessive Leber's hereditary optic neuropathy, file dfa8b9a7-f9f4-748b-e053-3a05fe0a3a96
|
45
|
|
Phenotyping mitochondrial DNA-related diseases in childhood: A cohort study of 150 patients, file 80ee5cf5-fe4f-4a96-93df-4178687d772b
|
44
|
|
Diagnostic Challenges in Late Onset Multiple Acyl-CoA Dehydrogenase Deficiency: Clinical, Morphological, and Genetic Aspects, file dfa8b9aa-6b21-748b-e053-3a05fe0a3a96
|
44
|
|
FASTKD2 Nonsense Mutation in an Infantile Mitochondrial Encephalomyopathy Associated with Cytochrome C Oxidase Deficiency, file dfa8b9a4-2bee-748b-e053-3a05fe0a3a96
|
42
|
|
Bi-allelic variants in OGDHL cause a neurodevelopmental spectrum disease featuring epilepsy, hearing loss, visual impairment, and ataxia, file dfa8b9a9-8a5e-748b-e053-3a05fe0a3a96
|
36
|
|
Myopathic mitochondrial DNA depletion syndrome associated with biallelic variants in LIG3, file dfa8b9a9-cade-748b-e053-3a05fe0a3a96
|
30
|
|
Biallelic Variants in ENDOG Associated with Mitochondrial Myopathy and Multiple mtDNA Deletions, file dfa8b9aa-6a7d-748b-e053-3a05fe0a3a96
|
30
|
|
Bi-allelic pathogenic variants in NDUFC2 cause early-onset Leigh syndrome and stalled biogenesis of complex I, file dfa8b9a9-bb38-748b-e053-3a05fe0a3a96
|
29
|
|
Dystonia in ATP Synthase Defects: Reconnecting Mitochondria and Dopamine, file 6021f980-72cf-4225-91c2-3907dd770f0a
|
24
|
|
Evaluation of Mitochondrial Dysfunction and Idebenone Responsiveness in Fibroblasts from Leber’s Hereditary Optic Neuropathy (LHON) Subjects, file 6625f9f9-9926-4943-bcac-2d7a9fb9446f
|
16
|
|
NGS-Based Genetic Analysis in a Cohort of Italian Patients with Suspected Inherited Myopathies and/or HyperCKemia, file 9d1c277e-d1a9-461e-abcc-1b4f47f32cef
|
15
|
|
PPAR-gamma agonist pioglitazone recovers mitochondrial quality control in fibroblasts from PITRM1-deficient patients, file ba4fcdac-3587-4a2e-8eeb-a9b789919790
|
12
|
|
Clinical, biochemical, and genetic features associated with VARS2-related mitochondrial disease, file dfa8b99a-dedb-748b-e053-3a05fe0a3a96
|
10
|
|
Clinical, imaging, biochemical and molecular features in Leigh syndrome: a study from the Italian network of mitochondrial diseases, file dfa8b9a9-c3aa-748b-e053-3a05fe0a3a96
|
10
|
|
Clinical implementation of RNA sequencing for Mendelian disease diagnostics, file dfa8b9aa-61e3-748b-e053-3a05fe0a3a96
|
10
|
|
Nanopore long-read next-generation sequencing for detection of mitochondrial DNA large-scale deletions, file f49ee864-01b1-4924-9466-7ddde62d65cd
|
10
|
|
Variants in ATP5F1B are associated with dominantly inherited dystonia, file aeeae8e7-4e5e-4373-bece-bd07338e25d3
|
8
|
|
Novel mutations in IBA57 are associated with leukodystrophy and variable clinical phenotypes, file dfa8b999-0637-748b-e053-3a05fe0a3a96
|
6
|
|
Recessive mutations in MSTO1 cause mitochondrial dynamics impairment, leading to myopathy and ataxia, file dfa8b999-4226-748b-e053-3a05fe0a3a96
|
6
|
|
Benign hereditary chorea and deletions outside NKX2-1 : what's the role of MBIP?, file dfa8b99c-2cd2-748b-e053-3a05fe0a3a96
|
6
|
|
Expanding the spectrum of neonatal-onset AIFM1-associated disorders, file 20559880-f961-4200-94ba-88ff7350e414
|
5
|
|
Parkin analysis in early onset Parkinson's disease, file dfa8b999-a74d-748b-e053-3a05fe0a3a96
|
5
|
|
SLC25A10 biallelic mutations in intractable epileptic encephalopathy with complex I deficiency, file dfa8b99a-785d-748b-e053-3a05fe0a3a96
|
4
|
|
Homozygous variant in OTX2 and possible genetic modifiers identified in a patient with combined pituitary hormone deficiency, ocular involvement, myopathy, ataxia, and mitochondrial impairment, file dfa8b99d-71ef-748b-e053-3a05fe0a3a96
|
4
|
|
Homozygous variant in OTX2 and possible genetic modifiers identified in a patient with combined pituitary hormone deficiency, ocular involvement, myopathy, ataxia, and mitochondrial impairment, file dfa8b99e-08e8-748b-e053-3a05fe0a3a96
|
4
|
|
Novel mutations in IBA57 are associated with leukodystrophy and variable clinical phenotypes, file dfa8b999-b463-748b-e053-3a05fe0a3a96
|
3
|
|
Neurologic phenotypes associated with mutations in RTN4IP1 (OPA10) in children and young adults, file dfa8b99a-7a90-748b-e053-3a05fe0a3a96
|
3
|
|
Epileptic phenotypes in children with early-onset mitochondrial diseases, file dfa8b99e-90cf-748b-e053-3a05fe0a3a96
|
3
|
|
Homozygous mutations in C1QBP as cause of progressive external ophthalmoplegia (PEO) and mitochondrial myopathy with multiple mtDNA deletions, file dfa8b9a3-f0b5-748b-e053-3a05fe0a3a96
|
3
|
|
Homozygous mutations in C1QBP as cause of progressive external ophthalmoplegia (PEO) and mitochondrial myopathy with multiple mtDNA deletions, file dfa8b9a5-171b-748b-e053-3a05fe0a3a96
|
3
|
|
Clinical findings in a patient with FARS2 mutations and early-infantile-encephalopathy with epilepsy, file dfa8b999-115b-748b-e053-3a05fe0a3a96
|
2
|
|
A novel AIFM1 mutation expands the phenotype to an infantile motor neuron disease, file dfa8b999-6be7-748b-e053-3a05fe0a3a96
|
2
|
|
Neonatal mitochondrial leukoencephalopathy with brain and spinal involvement and high lactate: expanding the phenotype of ISCA2 gene mutations, file dfa8b99a-a477-748b-e053-3a05fe0a3a96
|
2
|
|
R106C TFG variant causes infantile neuroaxonal dystrophy “plus” syndrome, file dfa8b99b-fdd0-748b-e053-3a05fe0a3a96
|
2
|
|
DNMT1-complex disorder caused by a novel mutation associated with an overlapping phenotype of autosomal-dominant cerebellar ataxia, deafness, and narcolepsy (ADCA-DN) and hereditary sensory neuropathy with dementia and hearing loss (HSN1E), file dfa8b99d-dff3-748b-e053-3a05fe0a3a96
|
2
|
|
Response to: “Heterogeneous phenotypic expression of C1QBP variants is attributable to variable heteroplasmy of secondary mtDNA deletions and mtDNA copy number”, file dfa8b9a3-ee8f-748b-e053-3a05fe0a3a96
|
2
|
|
Mitochondrial DNA Sequencing and Heteroplasmy Quantification by Next Generation Sequencing, file 09af858b-d935-442a-9967-b879fd1c1b8e
|
1
|
|
Assembly factors of human mitochondrial respiratory chain complexes: Physiology and pathophysiology, file 163e062c-f503-4c31-a346-42d1ed525588
|
1
|
|
POLG1 in idiopathic Parkinson disease, file 2c70d9b1-8980-475f-8c8a-925fc02435ff
|
1
|
|
Expanding the Spectrum of NUBPL-Related Leukodystrophy, file 42de41a9-6650-446f-b652-37fc511d9d16
|
1
|
| Totale |
8.394 |