BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

154 related articles for article (PubMed ID: 34298215)

  • 21. 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]  

  • 22. 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]  

  • 23.
    Forman EB; Gorman KM; Ennis S; King MD
    J Child Neurol; 2019 Sep; 34(10):621. PubMed ID: 31106652
    [TBL] [Abstract][Full Text] [Related]  

  • 24. Neurodegeneration with brain iron accumulation: Insights into the mitochondria dysregulation.
    Wang ZB; Liu JY; Xu XJ; Mao XY; Zhang W; Zhou HH; Liu ZQ
    Biomed Pharmacother; 2019 Oct; 118():109068. PubMed ID: 31404774
    [TBL] [Abstract][Full Text] [Related]  

  • 25. High frequency of beta-propeller protein-associated neurodegeneration (BPAN) among patients with intellectual disability and young-onset parkinsonism.
    Nishioka K; Oyama G; Yoshino H; Li Y; Matsushima T; Takeuchi C; Mochizuki Y; Mori-Yoshimura M; Murata M; Yamasita C; Nakamura N; Konishi Y; Ohi K; Ichikawa K; Terada T; Obi T; Funayama M; Saiki S; Hattori N
    Neurobiol Aging; 2015 May; 36(5):2004.e9-2004.e15. PubMed ID: 25744623
    [TBL] [Abstract][Full Text] [Related]  

  • 26. C19orf12 and FA2H mutations are rare in Italian patients with neurodegeneration with brain iron accumulation.
    Panteghini C; Zorzi G; Venco P; Dusi S; Reale C; Brunetti D; Chiapparini L; Zibordi F; Siegel B; Garavaglia B; Simonati A; Bertini E; Nardocci N; Tiranti V
    Semin Pediatr Neurol; 2012 Jun; 19(2):75-81. PubMed ID: 22704260
    [TBL] [Abstract][Full Text] [Related]  

  • 27. Clinical and genetic spectrum of an orphan disease MPAN: a series with new variants and a novel phenotype.
    Akçakaya NH; Haryanyan G; Mercan S; Sozer N; Ali A; Tombul T; Ozbek U; Uğur İşeri SA; Yapıcı Z
    Neurol Neurochir Pol; 2019; 53(6):476-483. PubMed ID: 31804703
    [TBL] [Abstract][Full Text] [Related]  

  • 28. Mitochondrial protein associated neurodegeneration - case report.
    Kłysz B; Skowrońska M; Kmieć T
    Neurol Neurochir Pol; 2014; 48(1):81-4. PubMed ID: 24636776
    [TBL] [Abstract][Full Text] [Related]  

  • 29. [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]  

  • 30. ATPase-deficient mitochondrial inner membrane protein ATAD3A disturbs mitochondrial dynamics in dominant hereditary spastic paraplegia.
    Cooper HM; Yang Y; Ylikallio E; Khairullin R; Woldegebriel R; Lin KL; Euro L; Palin E; Wolf A; Trokovic R; Isohanni P; Kaakkola S; Auranen M; Lönnqvist T; Wanrooij S; Tyynismaa H
    Hum Mol Genet; 2017 Apr; 26(8):1432-1443. PubMed ID: 28158749
    [TBL] [Abstract][Full Text] [Related]  

  • 31. 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]  

  • 32. Childhood-onset spastic paraplegia with NIPAL gene mutation.
    Bien-Willner R; Sambuughin N; Holley H; Bodensteiner J; Sivakumar K
    J Child Neurol; 2006 Nov; 21(11):974-7. PubMed ID: 17092466
    [TBL] [Abstract][Full Text] [Related]  

  • 33. Association of an insertion mutation in PRRT2 with hereditary spastic paraplegia accompanied by polyneuropathy.
    Wang Z; Dong H; Ji X; Luan S; Cao H
    J Clin Lab Anal; 2021 Jun; 35(6):e23772. PubMed ID: 33826176
    [TBL] [Abstract][Full Text] [Related]  

  • 34. Mutations in the novel mitochondrial protein REEP1 cause hereditary spastic paraplegia type 31.
    Züchner S; Wang G; Tran-Viet KN; Nance MA; Gaskell PC; Vance JM; Ashley-Koch AE; Pericak-Vance MA
    Am J Hum Genet; 2006 Aug; 79(2):365-9. PubMed ID: 16826527
    [TBL] [Abstract][Full Text] [Related]  

  • 35. [A new form of hereditary neurodegeneration with brain iron accumulation: clinical and molecular-genetic characteristics].
    Zakharova EY; Rudenskaya GE
    Zh Nevrol Psikhiatr Im S S Korsakova; 2014; 114(1):4-12. PubMed ID: 24637810
    [TBL] [Abstract][Full Text] [Related]  

  • 36. A diagnostic approach for neurodegeneration with brain iron accumulation: clinical features, genetics and brain imaging.
    Salomão RP; Pedroso JL; Gama MT; Dutra LA; Maciel RH; Godeiro-Junior C; Chien HF; Teive HA; Cardoso F; Barsottini OG
    Arq Neuropsiquiatr; 2016 Jul; 74(7):587-96. PubMed ID: 27487380
    [TBL] [Abstract][Full Text] [Related]  

  • 37. 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]  

  • 38. Clinical and genetic study of a Brazilian family with spastic paraplegia (SPG6 locus).
    Munhoz RP; Kawarai T; Teive HA; Raskin S; Sato C; Liang Y; St George-Hyslop PH; Rogaeva E
    Mov Disord; 2006 Feb; 21(2):279-81. PubMed ID: 16267846
    [TBL] [Abstract][Full Text] [Related]  

  • 39. 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]  

  • 40. Disease-Causing Variants in the ATL1 Gene Are a Rare Cause of Hereditary Spastic Paraplegia among Czech Patients.
    Mészárosová AU; Grečmalová D; Brázdilová M; Dvořáčková N; Kalina Z; Čermáková M; Vávrová D; Smetanová I; Staněk D; Seeman P
    Ann Hum Genet; 2017 Nov; 81(6):249-257. PubMed ID: 28736820
    [TBL] [Abstract][Full Text] [Related]  

    [Previous]   [Next]    [New Search]
    of 8.