193 related articles for article (PubMed ID: 23278385)
1. Rapid disease progression in adult-onset mitochondrial membrane protein-associated neurodegeneration.
Dogu O; Krebs CE; Kaleagasi H; Demirtas Z; Oksuz N; Walker RH; Paisán-Ruiz C
Clin Genet; 2013 Oct; 84(4):350-5. PubMed ID: 23278385
[TBL] [Abstract][Full Text] [Related]
2. 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]
3. Analysis of the C19orf12 and WDR45 genes in patients with neurodegeneration with brain iron accumulation.
Tschentscher A; Dekomien G; Ross S; Cremer K; Kukuk GM; Epplen JT; Hoffjan S
J Neurol Sci; 2015 Feb; 349(1-2):105-9. PubMed ID: 25592411
[TBL] [Abstract][Full Text] [Related]
4. PANK2 and C19orf12 mutations are common causes of neurodegeneration with brain iron accumulation.
Dezfouli MA; Alavi A; Rohani M; Rezvani M; Nekuie T; Klotzle B; Tonekaboni SH; Shahidi GA; Elahi E
Mov Disord; 2013 Feb; 28(2):228-32. PubMed ID: 23166001
[TBL] [Abstract][Full Text] [Related]
5. 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]
6. 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]
7. Mitochondrial membrane protein associated neurodegenration: a novel variant of neurodegeneration with brain iron accumulation.
Schulte EC; Claussen MC; Jochim A; Haack T; Hartig M; Hempel M; Prokisch H; Haun-Jünger U; Winkelmann J; Hemmer B; Förschler A; Ilg R
Mov Disord; 2013 Feb; 28(2):224-7. PubMed ID: 23436634
[TBL] [Abstract][Full Text] [Related]
8. 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]
9. Absence of an orphan mitochondrial protein, c19orf12, causes a distinct clinical subtype of neurodegeneration with brain iron accumulation.
Hartig MB; Iuso A; Haack T; Kmiec T; Jurkiewicz E; Heim K; Roeber S; Tarabin V; Dusi S; Krajewska-Walasek M; Jozwiak S; Hempel M; Winkelmann J; Elstner M; Oexle K; Klopstock T; Mueller-Felber W; Gasser T; Trenkwalder C; Tiranti V; Kretzschmar H; Schmitz G; Strom TM; Meitinger T; Prokisch H
Am J Hum Genet; 2011 Oct; 89(4):543-50. PubMed ID: 21981780
[TBL] [Abstract][Full Text] [Related]
10. 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]
11. Clinicopathological variability in neurodegeneration with brain iron accumulation.
Vincze A; Kapás I; Molnar MJ; Kovács GG
Ideggyogy Sz; 2010 Mar; 63(3-4):129-35. PubMed ID: 20405671
[TBL] [Abstract][Full Text] [Related]
12. Brain iron and metabolic abnormalities in C19orf12 mutation carriers: A 7.0 tesla MRI study in mitochondrial membrane protein-associated neurodegeneration.
Dusek P; Mekle R; Skowronska M; Acosta-Cabronero J; Huelnhagen T; Robinson SD; Schubert F; Deschauer M; Els A; Ittermann B; Schottmann G; Madai VI; Paul F; Klopstock T; Kmiec T; Niendorf T; Wuerfel J; Schneider SA
Mov Disord; 2020 Jan; 35(1):142-150. PubMed ID: 31518459
[TBL] [Abstract][Full Text] [Related]
13. NBIA Syndromes: A Step Forward from the Previous Knowledge.
Svetel M; Dragašević N; Petrović I; Novaković I; Tomić A; Kresojević N; Stanković I; Kostić V
Neurol India; 2021; 69(5):1380-1388. PubMed ID: 34747818
[TBL] [Abstract][Full Text] [Related]
14. [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]
15. Mitochondrial Membrane Protein-Associated Neurodegeneration Mimicking Juvenile Amyotrophic Lateral Sclerosis.
Kim J; Liao YH; Ionita C; Bale AE; Darras B; Acsadi G
Pediatr Neurol; 2016 Nov; 64():83-86. PubMed ID: 27671242
[TBL] [Abstract][Full Text] [Related]
16. Neurodegeneration with brain iron accumulation.
Dusek P; Schneider SA
Curr Opin Neurol; 2012 Aug; 25(4):499-506. PubMed ID: 22691760
[TBL] [Abstract][Full Text] [Related]
17. Genotypic and phenotypic spectrum of PANK2 mutations in patients with neurodegeneration with brain iron accumulation.
Hartig MB; Hörtnagel K; Garavaglia B; Zorzi G; Kmiec T; Klopstock T; Rostasy K; Svetel M; Kostic VS; Schuelke M; Botz E; Weindl A; Novakovic I; Nardocci N; Prokisch H; Meitinger T
Ann Neurol; 2006 Feb; 59(2):248-56. PubMed ID: 16437574
[TBL] [Abstract][Full Text] [Related]
18. Newly characterized forms of neurodegeneration with brain iron accumulation.
Doorn JM; Kruer MC
Curr Neurol Neurosci Rep; 2013 Dec; 13(12):413. PubMed ID: 24142851
[TBL] [Abstract][Full Text] [Related]
19. Hereditary spastic paraplegia type 43 (SPG43) is caused by mutation in C19orf12.
Landouré G; Zhu PP; Lourenço CM; Johnson JO; Toro C; Bricceno KV; Rinaldi C; Meilleur KG; Sangaré M; Diallo O; Pierson TM; Ishiura H; Tsuji S; Hein N; Fink JK; Stoll M; Nicholson G; Gonzalez MA; Speziani F; Dürr A; Stevanin G; Biesecker LG; ; Accardi J; Landis DM; Gahl WA; Traynor BJ; Marques W; Züchner S; Blackstone C; Fischbeck KH; Burnett BG
Hum Mutat; 2013 Oct; 34(10):1357-60. PubMed ID: 23857908
[TBL] [Abstract][Full Text] [Related]
20. Evolution and novel radiological changes of neurodegeneration associated with mutations in C19orf12.
Skowronska M; Kmiec T; Jurkiewicz E; Malczyk K; Kurkowska-Jastrzębska I; Czlonkowska A
Parkinsonism Relat Disord; 2017 Jun; 39():71-76. PubMed ID: 28347614
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
