Detalhe da pesquisa
1.
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.
Artigo
em Inglês
| MEDLINE | ID: mdl-37628761
2.
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.
Artigo
em Inglês
| MEDLINE | ID: mdl-32652806
3.
Clinical-genetic features and peculiar muscle histopathology in infantile DNM1L-related mitochondrial epileptic encephalopathy.
Hum Mutat
; 40(5): 601-618, 2019 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-30801875
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.
Artigo
em Inglês
| MEDLINE | ID: mdl-30773800
5.
A novel de novo dominant mutation in ISCU associated with mitochondrial myopathy.
J Med Genet
; 54(12): 815-824, 2017 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-29079705
6.
Nitric oxide regulates homeoprotein OTX1 and OTX2 expression in the rat myenteric plexus after intestinal ischemia-reperfusion injury.
Am J Physiol Gastrointest Liver Physiol
; 312(4): G374-G389, 2017 Apr 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-28154013
7.
Mutations in APOPT1, encoding a mitochondrial protein, cause cavitating leukoencephalopathy with cytochrome c oxidase deficiency.
Am J Hum Genet
; 95(3): 315-25, 2014 Sep 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-25175347
8.
Response to: "Heterogeneous phenotypic expression of C1QBP variants is attributable to variable heteroplasmy of secondary mtDNA deletions and mtDNA copy number".
Hum Mutat
; 41(11): 2014-2015, 2020 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-33113594
9.
Pantethine treatment is effective in recovering the disease phenotype induced by ketogenic diet in a pantothenate kinase-associated neurodegeneration mouse model.
Brain
; 137(Pt 1): 57-68, 2014 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-24316510
10.
AAV-mediated liver-specific MPV17 expression restores mtDNA levels and prevents diet-induced liver failure.
Mol Ther
; 22(1): 10-7, 2014 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-24247928
11.
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.
Artigo
em Inglês
| MEDLINE | ID: mdl-38755691
12.
An In Vitro Approach to Study Mitochondrial Dysfunction: A Cybrid Model.
J Vis Exp
; (181)2022 03 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-35343952
13.
Leber's Hereditary Optic Neuropathy: A Report on Novel mtDNA Pathogenic Variants.
Front Neurol
; 12: 657317, 2021.
Artigo
em Inglês
| MEDLINE | ID: mdl-34177762
14.
Movement Disorders in Children with a Mitochondrial Disease: A Cross-Sectional Survey from the Nationwide Italian Collaborative Network of Mitochondrial Diseases.
J Clin Med
; 10(10)2021 May 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-34065803
15.
Targeting Multiple Mitochondrial Processes by a Metabolic Modulator Prevents Sarcopenia and Cognitive Decline in SAMP8 Mice.
Front Pharmacol
; 11: 1171, 2020.
Artigo
em Inglês
| MEDLINE | ID: mdl-32848778
16.
Primary mitochondrial myopathy: Clinical features and outcome measures in 118 cases from Italy.
Neurol Genet
; 6(6): e519, 2020 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-33209982
17.
Expanding the molecular and phenotypic spectrum of truncating MT-ATP6 mutations.
Neurol Genet
; 6(1): e381, 2020 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-32042910
18.
Alteration of mitochondrial membrane inner potential in three Italian patients with megaconial congenital muscular dystrophy carrying new mutations in CHKB gene.
Mitochondrion
; 47: 24-29, 2019 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-30986505
19.
Characterization of c-kit (CD117) expression in human normal pituitary cells and pituitary adenomas.
Endocr Pathol
; 19(2): 104-11, 2008.
Artigo
em Inglês
| MEDLINE | ID: mdl-18568298
20.
Gastrointestinal stromal tumors--frequency, malignancy, and new prognostic factors: the experience of a single institution.
Pathol Res Pract
; 204(4): 219-33, 2008.
Artigo
em Inglês
| MEDLINE | ID: mdl-18304753