BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

229 related articles for article (PubMed ID: 37463447)

  • 1. RINT1 deficiency disrupts lipid metabolism and underlies a complex hereditary spastic paraplegia.
    Launay N; Ruiz M; Planas-Serra L; Verdura E; Rodríguez-Palmero A; Schlüter A; Goicoechea L; Guilera C; Casas J; Campelo F; Jouanguy E; Casanova JL; Boespflug-Tanguy O; Vazquez Cancela M; Gutiérrez-Solana LG; Casasnovas C; Area-Gomez E; Pujol A
    J Clin Invest; 2023 Jul; 133(14):. PubMed ID: 37463447
    [TBL] [Abstract][Full Text] [Related]  

  • 2. RINT1 Bi-allelic Variations Cause Infantile-Onset Recurrent Acute Liver Failure and Skeletal Abnormalities.
    Cousin MA; Conboy E; Wang JS; Lenz D; Schwab TL; Williams M; Abraham RS; Barnett S; El-Youssef M; Graham RP; Gutierrez Sanchez LH; Hasadsri L; Hoffmann GF; Hull NC; Kopajtich R; Kovacs-Nagy R; Li JQ; Marx-Berger D; McLin V; McNiven MA; Mounajjed T; Prokisch H; Rymen D; Schulze RJ; Staufner C; Yang Y; Clark KJ; Lanpher BC; Klee EW
    Am J Hum Genet; 2019 Jul; 105(1):108-121. PubMed ID: 31204009
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Association of Human Papillomavirus 16 E2 with Rad50-Interacting Protein 1 Enhances Viral DNA Replication.
    Campos-León K; Wijendra K; Siddiqa A; Pentland I; Feeney KM; Knapman A; Davies R; Androphy EJ; Parish JL
    J Virol; 2017 Mar; 91(5):. PubMed ID: 28031358
    [TBL] [Abstract][Full Text] [Related]  

  • 4. RINT1 functions as a multitasking protein at the crossroads between genomic stability, ER homeostasis, and autophagy.
    Grigaravicius P; von Deimling A; Frappart PO
    Autophagy; 2016 Aug; 12(8):1413-5. PubMed ID: 27367497
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Mutations in PCYT2 disrupt etherlipid biosynthesis and cause a complex hereditary spastic paraplegia.
    Vaz FM; McDermott JH; Alders M; Wortmann SB; Kölker S; Pras-Raves ML; Vervaart MAT; van Lenthe H; Luyf ACM; Elfrink HL; Metcalfe K; Cuvertino S; Clayton PE; Yarwood R; Lowe MP; Lovell S; Rogers RC; ; van Kampen AHC; Ruiter JPN; Wanders RJA; Ferdinandusse S; van Weeghel M; Engelen M; Banka S
    Brain; 2019 Nov; 142(11):3382-3397. PubMed ID: 31637422
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Loss-of-function mutations in the ATP13A2/PARK9 gene cause complicated hereditary spastic paraplegia (SPG78).
    Estrada-Cuzcano A; Martin S; Chamova T; Synofzik M; Timmann D; Holemans T; Andreeva A; Reichbauer J; De Rycke R; Chang DI; van Veen S; Samuel J; Schöls L; Pöppel T; Mollerup Sørensen D; Asselbergh B; Klein C; Zuchner S; Jordanova A; Vangheluwe P; Tournev I; Schüle R
    Brain; 2017 Feb; 140(2):287-305. PubMed ID: 28137957
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Spastic paraplegia gene 7 in patients with spasticity and/or optic neuropathy.
    Klebe S; Depienne C; Gerber S; Challe G; Anheim M; Charles P; Fedirko E; Lejeune E; Cottineau J; Brusco A; Dollfus H; Chinnery PF; Mancini C; Ferrer X; Sole G; Destée A; Mayer JM; Fontaine B; de Seze J; Clanet M; Ollagnon E; Busson P; Cazeneuve C; Stevanin G; Kaplan J; Rozet JM; Brice A; Durr A
    Brain; 2012 Oct; 135(Pt 10):2980-93. PubMed ID: 23065789
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Parkinsonism and spastic paraplegia type 7: Expanding the spectrum of mitochondrial Parkinsonism.
    De la Casa-Fages B; Fernández-Eulate G; Gamez J; Barahona-Hernando R; Morís G; García-Barcina M; Infante J; Zulaica M; Fernández-Pelayo U; Muñoz-Oreja M; Urtasun M; Olaskoaga A; Zelaya V; Jericó I; Saez-Villaverde R; Catalina I; Sola E; Martínez-Sáez E; Pujol A; Ruiz M; Schlüter A; Spinazzola A; Muñoz-Blanco JL; Grandas F; Holt I; Álvarez V; López de Munaín A
    Mov Disord; 2019 Oct; 34(10):1547-1561. PubMed ID: 31433872
    [TBL] [Abstract][Full Text] [Related]  

  • 9. RNF170-Related Hereditary Spastic Paraplegia: Confirmation by a Novel Mutation.
    de Sainte Agathe JM; Mercier S; Mahé JY; Péréon Y; Buratti J; Tissier L; Kol B; Said SA; Leguern É; Banneau G; Stévanin G
    Mov Disord; 2021 Mar; 36(3):771-774. PubMed ID: 33165979
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Alteration of ornithine metabolism leads to dominant and recessive hereditary spastic paraplegia.
    Coutelier M; Goizet C; Durr A; Habarou F; Morais S; Dionne-Laporte A; Tao F; Konop J; Stoll M; Charles P; Jacoupy M; Matusiak R; Alonso I; Tallaksen C; Mairey M; Kennerson M; Gaussen M; Schule R; Janin M; Morice-Picard F; Durand CM; Depienne C; Calvas P; Coutinho P; Saudubray JM; Rouleau G; Brice A; Nicholson G; Darios F; Loureiro JL; Zuchner S; Ottolenghi C; Mochel F; Stevanin G
    Brain; 2015 Aug; 138(Pt 8):2191-205. PubMed ID: 26026163
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Whole-exome sequencing confirms implication of VPS13D as a potential cause of progressive spastic ataxia.
    Durand CM; Angelini C; Michaud V; Delleci C; Coupry I; Goizet C; Trimouille A
    BMC Neurol; 2022 Feb; 22(1):53. PubMed ID: 35151251
    [TBL] [Abstract][Full Text] [Related]  

  • 12. The Drosophila RZZ complex - roles in membrane trafficking and cytokinesis.
    Wainman A; Giansanti MG; Goldberg ML; Gatti M
    J Cell Sci; 2012 Sep; 125(Pt 17):4014-25. PubMed ID: 22685323
    [TBL] [Abstract][Full Text] [Related]  

  • 13. The role of AP-4 in cargo export from the trans-Golgi network and hereditary spastic paraplegia.
    Mattera R; De Pace R; Bonifacino JS
    Biochem Soc Trans; 2020 Oct; 48(5):1877-1888. PubMed ID: 33084855
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Impaired lipid metabolism in astrocytes underlies degeneration of cortical projection neurons in hereditary spastic paraplegia.
    Mou Y; Dong Y; Chen Z; Denton KR; Duff MO; Blackstone C; Zhang SC; Li XJ
    Acta Neuropathol Commun; 2020 Dec; 8(1):214. PubMed ID: 33287888
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Genetic and phenotypic characterization of complex hereditary spastic paraplegia.
    Kara E; Tucci A; Manzoni C; Lynch DS; Elpidorou M; Bettencourt C; Chelban V; Manole A; Hamed SA; Haridy NA; Federoff M; Preza E; Hughes D; Pittman A; Jaunmuktane Z; Brandner S; Xiromerisiou G; Wiethoff S; Schottlaender L; Proukakis C; Morris H; Warner T; Bhatia KP; Korlipara LV; Singleton AB; Hardy J; Wood NW; Lewis PA; Houlden H
    Brain; 2016 Jul; 139(Pt 7):1904-18. PubMed ID: 27217339
    [TBL] [Abstract][Full Text] [Related]  

  • 16. ER Morphology in the Pathogenesis of Hereditary Spastic Paraplegia.
    Sonda S; Pendin D; Daga A
    Cells; 2021 Oct; 10(11):. PubMed ID: 34831093
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Pseudoxanthoma elasticum overlaps hereditary spastic paraplegia type 56.
    Legrand A; Pujol C; Durand CM; Mesnil A; Rubera I; Duranton C; Zuily S; Sousa AB; Renaud M; Boucher JL; Pietrancosta N; Adham S; Orssaud C; Marelli C; Casali C; Ziccardi L; Villain N; Ewenczyk C; Durr A; Mignot C; Stevanin G; Billon C; Hureaux M; Jeunemaitre X; Goizet C; Albuisson J
    J Intern Med; 2021 May; 289(5):709-725. PubMed ID: 33107650
    [TBL] [Abstract][Full Text] [Related]  

  • 18. A founder mutation p.H701P identified as a major cause of SPG7 in Norway.
    Rydning SL; Wedding IM; Koht J; Chawla M; Øye AM; Sheng Y; Vigeland MD; Selmer KK; Tallaksen CM
    Eur J Neurol; 2016 Apr; 23(4):763-71. PubMed ID: 26756429
    [TBL] [Abstract][Full Text] [Related]  

  • 19. SLC2A1 mutations are a rare cause of pediatric-onset hereditary spastic paraplegia.
    Nicita F; Schirinzi T; Stregapede F; Vasco G; Bertini E; Travaglini L
    Eur J Paediatr Neurol; 2019 Mar; 23(2):329-332. PubMed ID: 30616884
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Genotype-phenotype correlations in spastic paraplegia type 7: a study in a large Dutch cohort.
    van Gassen KL; van der Heijden CD; de Bot ST; den Dunnen WF; van den Berg LH; Verschuuren-Bemelmans CC; Kremer HP; Veldink JH; Kamsteeg EJ; Scheffer H; van de Warrenburg BP
    Brain; 2012 Oct; 135(Pt 10):2994-3004. PubMed ID: 22964162
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 12.