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1.
Bi-allelic LETM1 variants perturb mitochondrial ion homeostasis leading to a clinical spectrum with predominant nervous system involvement.
Am J Hum Genet
; 109(9): 1692-1712, 2022 09 01.
Article
in English
| MEDLINE | ID: mdl-36055214
2.
Evaluation of Mitochondrial Dysfunction and Idebenone Responsiveness in Fibroblasts from Leber's Hereditary Optic Neuropathy (LHON) Subjects.
Int J Mol Sci
; 24(16)2023 Aug 08.
Article
in English
| MEDLINE | ID: mdl-37628761
3.
Homozygous mutations in C1QBP as cause of progressive external ophthalmoplegia (PEO) and mitochondrial myopathy with multiple mtDNA deletions.
Hum Mutat
; 41(10): 1745-1750, 2020 10.
Article
in English
| MEDLINE | ID: mdl-32652806
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.
Am J Med Genet A
; 179(5): 827-831, 2019 05.
Article
in English
| MEDLINE | ID: mdl-30773800
5.
Compound heterozygous missense and deep intronic variants in NDUFAF6 unraveled by exome sequencing and mRNA analysis.
J Hum Genet
; 63(5): 563-568, 2018 May.
Article
in English
| MEDLINE | ID: mdl-29531337
6.
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).
Neurol Sci
; 40(9): 1963-1966, 2019 Sep.
Article
in English
| MEDLINE | ID: mdl-30911858
7.
A novel MT-ATP6 variant associated with complicated ataxia in two unrelated Italian patients: case report and functional studies.
Orphanet J Rare Dis
; 19(1): 200, 2024 May 16.
Article
in English
| MEDLINE | ID: mdl-38755691
8.
Genetic variants affecting NQO1 protein levels impact the efficacy of idebenone treatment in Leber hereditary optic neuropathy.
Cell Rep Med
; 5(2): 101383, 2024 Feb 20.
Article
in English
| MEDLINE | ID: mdl-38272025
9.
Sex distribution and classification of GBA1 variants in an Italian cohort of Parkinson's disease patients analyzed over the last seventeen years.
Parkinsonism Relat Disord
; 117: 105919, 2023 Dec.
Article
in English
| MEDLINE | ID: mdl-37948831
10.
Biallelic Variants in ENDOG Associated with Mitochondrial Myopathy and Multiple mtDNA Deletions.
Cells
; 11(6)2022 03 12.
Article
in English
| MEDLINE | ID: mdl-35326425
11.
Role of PITRM1 in Mitochondrial Dysfunction and Neurodegeneration.
Biomedicines
; 9(7)2021 Jul 17.
Article
in English
| MEDLINE | ID: mdl-34356897
12.
Leber's Hereditary Optic Neuropathy: A Report on Novel mtDNA Pathogenic Variants.
Front Neurol
; 12: 657317, 2021.
Article
in English
| MEDLINE | ID: mdl-34177762
13.
The m.3890G>A/MT-ND1 mtDNA rare pathogenic variant: Expanding clinical and MRI phenotypes.
Mitochondrion
; 60: 142-149, 2021 09.
Article
in English
| MEDLINE | ID: mdl-34390870
14.
Arabidopsis thaliana alternative dehydrogenases: a potential therapy for mitochondrial complex I deficiency? Perspectives and pitfalls.
Orphanet J Rare Dis
; 14(1): 236, 2019 10 29.
Article
in English
| MEDLINE | ID: mdl-31665043
15.
Roles of neutrophil gelatinase-associated lipocalin (NGAL) in human cancer.
Oncotarget
; 5(6): 1576-94, 2014 Mar 30.
Article
in English
| MEDLINE | ID: mdl-24742531
16.
Insight into the role of microRNAs in brain tumors (review).
Int J Oncol
; 40(3): 605-24, 2012 Mar.
Article
in English
| MEDLINE | ID: mdl-22179098
17.
Molecular targeted therapy in melanoma: a way to reverse resistance to conventional drugs.
Curr Drug Deliv
; 9(1): 17-29, 2012 Jan.
Article
in English
| MEDLINE | ID: mdl-22023213
18.
microRNA-34a is tumor suppressive in brain tumors and glioma stem cells.
Cell Cycle
; 9(6): 1031-6, 2010 Mar 15.
Article
in English
| MEDLINE | ID: mdl-20190569
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