243 related articles for article (PubMed ID: 31087512)
1. Autosomal dominant mitochondrial membrane protein-associated neurodegeneration (MPAN).
Gregory A; Lotia M; Jeong SY; Fox R; Zhen D; Sanford L; Hamada J; Jahic A; Beetz C; Freed A; Kurian MA; Cullup T; van der Weijden MCM; Nguyen V; Setthavongsack N; Garcia D; Krajbich V; Pham T; Woltjer R; George BP; Minks KQ; Paciorkowski AR; Hogarth P; Jankovic J; Hayflick SJ
Mol Genet Genomic Med; 2019 Jul; 7(7):e00736. PubMed ID: 31087512
[TBL] [Abstract][Full Text] [Related]
2. Dominant mitochondrial membrane protein-associated neurodegeneration (MPAN) variants cluster within a specific C19orf12 isoform.
Rickman OJ; Salter CG; Gunning AC; Fasham J; Voutsina N; Leslie JS; McGavin L; Cross HE; Posey JE; Akdemir ZC; Jhangiani SN; Lupski JR; Baple EL; Crosby AH
Parkinsonism Relat Disord; 2021 Jan; 82():84-86. PubMed ID: 33260061
[TBL] [Abstract][Full Text] [Related]
3. Mitochondrial membrane protein-associated neurodegeneration (MPAN).
Hartig M; Prokisch H; Meitinger T; Klopstock T
Int Rev Neurobiol; 2013; 110():73-84. PubMed ID: 24209434
[TBL] [Abstract][Full Text] [Related]
4. A De Novo case of autosomal dominant mitochondrial membrane protein-associated neurodegeneration.
Fraser S; Koenig M; Farach L; Mancias P; Mowrey K
Mol Genet Genomic Med; 2021 Jul; 9(7):e1706. PubMed ID: 34041867
[TBL] [Abstract][Full Text] [Related]
5. A novel C19orf12 frameshift mutation in a MPAN pedigree impairs mitochondrial function and connectivity leading to neurodegeneration.
Chen HY; Lin HI; Hsu CL; Chen PL; Huang CY; Teng SC; Lin CH
Parkinsonism Relat Disord; 2023 Apr; 109():105353. PubMed ID: 36863113
[TBL] [Abstract][Full Text] [Related]
6. Eye of the tiger sign in a 23 year patient with mitochondrial membrane protein associated neurodegeneration.
Skowronska M; Kmiec T; Kurkowska-Jastrzębska I; Czlonkowska A
J Neurol Sci; 2015 May; 352(1-2):110-1. PubMed ID: 25819119
[No Abstract] [Full Text] [Related]
7. Retrospective analysis of 17 patients with mitochondrial membrane protein-associated neurodegeneration diagnosed in Russia.
Sparber P; Krylova T; Repina S; Demina N; Rudenskaya G; Sharkova I; Sharkov A; Kadyshev V; Kanivets I; Korostelev S; Pomerantseva E; Kaimonov V; Mikhailova S; Zakharova E; Skoblov M
Parkinsonism Relat Disord; 2021 Mar; 84():98-104. PubMed ID: 33607528
[TBL] [Abstract][Full Text] [Related]
8. C19orf12 mutation causing mitochondrial membrane-protein Associated Neurodegeneration masquerading as spastic paraplegia.
Ramesh R; Deenadayalu A; Bhattacharjee S; Paramanandam V
Parkinsonism Relat Disord; 2021 Aug; 89():146-147. PubMed ID: 34298215
[TBL] [Abstract][Full Text] [Related]
9. Novel case of neurodegeneration with brain iron accumulation 4 (NBIA4) caused by a pathogenic variant affecting splicing.
Sparber P; Marakhonov A; Filatova A; Sharkova I; Skoblov M
Neurogenetics; 2018 Dec; 19(4):257-260. PubMed ID: 30392167
[TBL] [Abstract][Full Text] [Related]
10. [Pedigree analysis of C19ORF12 p.Asp18Tyr mutation in a family with mitochondrial membrane protein associated neurodegeneration].
Li SJ; Wang LL; Qin LZ; Wang XJ; Zhang JW; Li W
Zhonghua Yi Xue Za Zhi; 2019 Oct; 99(37):2926-2931. PubMed ID: 31607023
[No Abstract] [Full Text] [Related]
11. Is there heart disease in cases of neurodegeneration associated with mutations in C19orf12?
Skowronska M; Buksinska-Lisik M; Kmiec T; Litwin T; Kurkowska-Jastrzębska I; Czlonkowska A
Parkinsonism Relat Disord; 2020 Nov; 80():15-18. PubMed ID: 32932022
[TBL] [Abstract][Full Text] [Related]
12. C19orf12 gene mutations in patients with neurodegeneration with brain iron accumulation.
Gagliardi M; Annesi G; Lesca G; Broussolle E; Iannello G; Vaiti V; Gambardella A; Quattrone A
Parkinsonism Relat Disord; 2015 Jul; 21(7):813-6. PubMed ID: 25962551
[TBL] [Abstract][Full Text] [Related]
13. Autosomal Dominant MPAN: Mosaicism Expands the Clinical Spectrum to Atypical Late-Onset Phenotypes.
Angelini C; Durand CM; Fergelot P; Deforges J; Vital A; Menegon P; Sarrazin E; Bellance R; Mathis S; Gonzalez V; Renaud M; Frismand S; Schmitt E; Rouanet M; Burglen L; Chabrol B; Desnous B; Arveiler B; Stevanin G; Coupry I; Goizet C
Mov Disord; 2023 Nov; 38(11):2103-2115. PubMed ID: 37605305
[TBL] [Abstract][Full Text] [Related]
14. Are some C19orf12 variants monoallelic for neurological disorders?
Tariq H; Butt JUR; Houlden H; Naz S
Parkinsonism Relat Disord; 2019 Aug; 65():267-269. PubMed ID: 31105013
[No Abstract] [Full Text] [Related]
15. Reprogramming of a human induced pluripotent stem cell (iPSC) line from a patient with neurodegeneration with brain iron accumulation (NBIA) harboring a novel frameshift mutation in C19orf12 gene.
Lin HY; Ou-Yang CH; Lin CH
Stem Cell Res; 2020 Dec; 49():102032. PubMed ID: 33068888
[TBL] [Abstract][Full Text] [Related]
16. C19orf12 ablation causes ferroptosis in mitochondrial membrane protein-associated with neurodegeneration.
Shao C; Zhu J; Ma X; Siedlak SL; Cohen ML; Lerner A; Wang W
Free Radic Biol Med; 2022 Mar; 182():23-33. PubMed ID: 35182730
[TBL] [Abstract][Full Text] [Related]
17. Retinal and optic nerve abnormalities in neurodegeneration associated with mutations in C19orf12 (MPAN).
Langwinska-Wosko E; Skowronska M; Kmiec T; Czlonkowska A
J Neurol Sci; 2016 Nov; 370():237-240. PubMed ID: 27772766
[TBL] [Abstract][Full Text] [Related]
18. Mitochondrial Membrane Protein Associated Neurodegeneration (MPAN) with a Novel C19orf12 Mutation in the First Decade of Life.
Gowda VK; Patil A; Srinivasan VM; Kathrani N
Indian J Pediatr; 2019 Aug; 86(8):746-748. PubMed ID: 30825065
[TBL] [Abstract][Full Text] [Related]
19. The p.Thr11Met mutation in c19orf12 is frequent among adult Turkish patients with MPAN.
Olgiati S; Doğu O; Tufekcioglu Z; Diler Y; Saka E; Gultekin M; Kaleagasi H; Kuipers D; Graafland J; Breedveld GJ; Quadri M; Sürmeli R; Sünter G; Doğan T; Yalçın AD; Bilgiç B; Elibol B; Emre M; Hanagasi HA; Bonifati V
Parkinsonism Relat Disord; 2017 Jun; 39():64-70. PubMed ID: 28347615
[TBL] [Abstract][Full Text] [Related]
20. Mitochondrial membrane protein-associated neurodegeneration: a case report and literature review.
Dušek P; Školoudík D; Roth J; Dušek P
Neurocase; 2018 Jun; 24(3):161-165. PubMed ID: 30088953
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
