BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

133 related articles for article (PubMed ID: 29971521)

  • 1. R106C TFG variant causes infantile neuroaxonal dystrophy "plus" syndrome.
    Catania A; Battini R; Pippucci T; Pasquariello R; Chiapparini ML; Seri M; Garavaglia B; Zorzi G; Nardocci N; Ghezzi D; Tiranti V
    Neurogenetics; 2018 Aug; 19(3):179-187. PubMed ID: 29971521
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Homozygous TFG gene variants expanding the mutational and clinical spectrum of hereditary spastic paraplegia 57 and a review of literature.
    Khorrami M; Tabatabaiefar MA; Khorram E; Yaghini O; Rezaei M; Hejazifar A; Riahinezhad M; Kheirollahi M
    J Hum Genet; 2021 Oct; 66(10):973-981. PubMed ID: 33767317
    [TBL] [Abstract][Full Text] [Related]  

  • 3. TFG associated hereditary spastic paraplegia: an addition to the phenotypic spectrum.
    Tariq H; Naz S
    Neurogenetics; 2017 Apr; 18(2):105-109. PubMed ID: 28124177
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Novel Genetic, Clinical, and Pathomechanistic Insights into TFG-Associated Hereditary Spastic Paraplegia.
    Harlalka GV; McEntagart ME; Gupta N; Skrzypiec AE; Mucha MW; Chioza BA; Simpson MA; Sreekantan-Nair A; Pereira A; Günther S; Jahic A; Modarres H; Moore-Barton H; Trembath RC; Kabra M; Baple EL; Thakur S; Patton MA; Beetz C; Pawlak R; Crosby AH
    Hum Mutat; 2016 Nov; 37(11):1157-1161. PubMed ID: 27492651
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Inhibition of TFG function causes hereditary axon degeneration by impairing endoplasmic reticulum structure.
    Beetz C; Johnson A; Schuh AL; Thakur S; Varga RE; Fothergill T; Hertel N; Bomba-Warczak E; Thiele H; Nürnberg G; Altmüller J; Saxena R; Chapman ER; Dent EW; Nürnberg P; Audhya A
    Proc Natl Acad Sci U S A; 2013 Mar; 110(13):5091-6. PubMed ID: 23479643
    [TBL] [Abstract][Full Text] [Related]  

  • 6. PLA2G6 mutations associated with a continuous clinical spectrum from neuroaxonal dystrophy to hereditary spastic paraplegia.
    Ozes B; Karagoz N; Schüle R; Rebelo A; Sobrido MJ; Harmuth F; Synofzik M; Pascual SIP; Colak M; Ciftci-Kavaklioglu B; Kara B; Ordóñez-Ugalde A; Quintáns B; Gonzalez MA; Soysal A; Zuchner S; Battaloglu E
    Clin Genet; 2017 Nov; 92(5):534-539. PubMed ID: 28295203
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Hereditary spastic paraplegias: identification of a novel SPG57 variant affecting TFG oligomerization and description of HSP subtypes in Sudan.
    Elsayed LEO; Mohammed IN; Hamed AAA; Elseed MA; Johnson A; Mairey M; Mohamed HESA; Idris MN; Salih MAM; El-Sadig SM; Koko ME; Mohamed AYO; Raymond L; Coutelier M; Darios F; Siddig RA; Ahmed AKMA; Babai AMA; Malik HMO; Omer ZMBM; Mohamed EOE; Eltahir HB; Magboul NAA; Bushara EE; Elnour A; Rahim SMA; Alattaya A; Elbashir MI; Ibrahim ME; Durr A; Audhya A; Brice A; Ahmed AE; Stevanin G
    Eur J Hum Genet; 2016 Jan; 25(1):100-110. PubMed ID: 27601211
    [TBL] [Abstract][Full Text] [Related]  

  • 8. A new PLA2G6 mutation in a family with infantile neuroaxonal dystrophy.
    Iannello G; Graziano C; Cenacchi G; Cordelli DM; Zuntini R; Papa V; Magistà AM; Gagliardi M; Procopio R; Quattrone A; Annesi G
    J Neurol Sci; 2017 Oct; 381():209-212. PubMed ID: 28991683
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Case report of a novel homozygous splice site mutation in PLA2G6 gene causing infantile neuroaxonal dystrophy in a Sudanese family.
    Elsayed LEO; Mohammed IN; Hamed AAA; Elseed MA; Salih MAM; Yahia A; Siddig RA; Amin M; Koko M; Elbashir MI; Ibrahim ME; Brice A; Ahmed AE; Stevanin G
    BMC Med Genet; 2018 May; 19(1):72. PubMed ID: 29739362
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Pathogenic TFG Mutations Underlying Hereditary Spastic Paraplegia Impair Secretory Protein Trafficking and Axon Fasciculation.
    Slosarek EL; Schuh AL; Pustova I; Johnson A; Bird J; Johnson M; Frankel EB; Bhattacharya N; Hanna MG; Burke JE; Ruhl DA; Quinney K; Block S; Peotter JL; Chapman ER; Sheets MD; Butcher SE; Stagg SM; Audhya A
    Cell Rep; 2018 Aug; 24(9):2248-2260. PubMed ID: 30157421
    [TBL] [Abstract][Full Text] [Related]  

  • 11. 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]  

  • 12. A novel homozygous mutation of the TFG gene in a patient with early onset spastic paraplegia and later onset sensorimotor polyneuropathy.
    Miyabayashi T; Ochiai T; Suzuki N; Aoki M; Inui T; Okubo Y; Sato R; Togashi N; Takashima H; Ishiura H; Tsuji S; Koh K; Takiyama Y; Haginoya K
    J Hum Genet; 2019 Feb; 64(2):171-176. PubMed ID: 30467354
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Novel insertion mutation in the PLA2G6 gene in an Iranian family with infantile neuroaxonal dystrophy.
    Rostampour D; Zolfaghari MR; Gholami M
    J Clin Lab Anal; 2022 Mar; 36(3):e24253. PubMed ID: 35092705
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Infantile neuroaxonal dystrophy in a pair of Malaysian siblings with progressive cerebellar atrophy: Description of an expanded phenotype with novel PLA2G6 variants.
    Li L; Fong CY; Tay CG; Tae SK; Suzuki H; Kosaki K; Thong MK
    J Clin Neurosci; 2020 Jan; 71():289-292. PubMed ID: 31493991
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Recurrent null mutation in SPG20 leads to Troyer syndrome.
    Tawamie H; Wohlleber E; Uebe S; Schmäl C; Nöthen MM; Abou Jamra R
    Mol Cell Probes; 2015 Oct; 29(5):315-8. PubMed ID: 26003402
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Homozygous mutation in Atlastin GTPase 1 causes recessive hereditary spastic paraplegia.
    Willkomm L; Heredia R; Hoffmann K; Wang H; Voit T; Hoffman EP; Cirak S
    J Hum Genet; 2016 Jun; 61(6):571-3. PubMed ID: 26888483
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Infantile-onset ascending hereditary spastic paraplegia with bulbar involvement due to the novel ALS2 mutation c.2761C>T.
    Wakil SM; Ramzan K; Abuthuraya R; Hagos S; Al-Dossari H; Al-Omar R; Murad H; Chedrawi A; Al-Hassnan ZN; Finsterer J; Bohlega S
    Gene; 2014 Feb; 536(1):217-20. PubMed ID: 24315819
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Recessive truncating NALCN mutation in infantile neuroaxonal dystrophy with facial dysmorphism.
    Köroğlu Ç; Seven M; Tolun A
    J Med Genet; 2013 Aug; 50(8):515-20. PubMed ID: 23749988
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Identification of the PLA2G6 c.1579G>A Missense Mutation in Papillon Dog Neuroaxonal Dystrophy Using Whole Exome Sequencing Analysis.
    Tsuboi M; Watanabe M; Nibe K; Yoshimi N; Kato A; Sakaguchi M; Yamato O; Tanaka M; Kuwamura M; Kushida K; Ishikura T; Harada T; Chambers JK; Sugano S; Uchida K; Nakayama H
    PLoS One; 2017; 12(1):e0169002. PubMed ID: 28107443
    [TBL] [Abstract][Full Text] [Related]  

  • 20. 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]  

    [Next]    [New Search]
    of 7.