These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.
2. Early-onset L-dopa-responsive parkinsonism with pyramidal signs due to ATP13A2, PLA2G6, FBXO7 and spatacsin mutations. Paisán-Ruiz C; Guevara R; Federoff M; Hanagasi H; Sina F; Elahi E; Schneider SA; Schwingenschuh P; Bajaj N; Emre M; Singleton AB; Hardy J; Bhatia KP; Brandner S; Lees AJ; Houlden H Mov Disord; 2010 Sep; 25(12):1791-800. PubMed ID: 20669327 [TBL] [Abstract][Full Text] [Related]
3. A novel FBXO7-R345P mutation in a Chinese family with autosomal recessive parkinsonian-pyramidal syndrome. Wang Z; Song Y; Zhu W; Wang X; Li X; Xu F; Si L; Yao T; Zhu J; Lai H; Li W; Lin F; Wang C Parkinsonism Relat Disord; 2021 Jul; 88():62-67. PubMed ID: 34144229 [TBL] [Abstract][Full Text] [Related]
4. 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]
5. Parkinsonian-Pyramidal syndromes: A systematic review. Tranchant C; Koob M; Anheim M Parkinsonism Relat Disord; 2017 Jun; 39():4-16. PubMed ID: 28256436 [TBL] [Abstract][Full Text] [Related]
6. [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]
8. 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]
9. 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]
10. F-box only protein 7 gene in parkinsonian-pyramidal disease. Deng H; Liang H; Jankovic J JAMA Neurol; 2013 Jan; 70(1):20-4. PubMed ID: 23318512 [TBL] [Abstract][Full Text] [Related]
11. Novel compound heterozygous FBXO7 mutations in a family with early onset Parkinson's disease. Lorenzo-Betancor O; Lin YH; Samii A; Jayadev S; Kim HM; Longfellow K; Distad BJ; Yearout D; Mata IF; Zabetian CP Parkinsonism Relat Disord; 2020 Nov; 80():142-147. PubMed ID: 33002721 [TBL] [Abstract][Full Text] [Related]
13. Characterization of the porcine FBX07 gene: the first step towards generation of a pig model for Parkinsonian pyramidal syndrome. Larsen K; Bendixen C Mol Biol Rep; 2012 Feb; 39(2):1517-26. PubMed ID: 21611747 [TBL] [Abstract][Full Text] [Related]
15. Compound heterozygous variants of the FBXO7 gene resulting in infantile-onset Parkinsonian-pyramidal syndrome in siblings of a Chinese family. Jin X; An L; Hao S; Liu Q; Zhang Q; Wang X; Feng X; Zhang C; Cao X; Yan Y; Ma X J Clin Lab Anal; 2020 Aug; 34(8):e23324. PubMed ID: 32274857 [TBL] [Abstract][Full Text] [Related]