BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

336 related articles for article (PubMed ID: 23634771)

  • 1. Profilin-1 mutations are rare in patients with amyotrophic lateral sclerosis and frontotemporal dementia.
    van Blitterswijk M; Baker MC; Bieniek KF; Knopman DS; Josephs KA; Boeve B; Caselli R; Wszolek ZK; Petersen R; Graff-Radford NR; Boylan KB; Dickson DW; Rademakers R
    Amyotroph Lateral Scler Frontotemporal Degener; 2013 Sep; 14(5-6):463-9. PubMed ID: 23634771
    [TBL] [Abstract][Full Text] [Related]  

  • 2. A novel phosphorylation site mutation in profilin 1 revealed in a large screen of US, Nordic, and German amyotrophic lateral sclerosis/frontotemporal dementia cohorts.
    Ingre C; Landers JE; Rizik N; Volk AE; Akimoto C; Birve A; Hübers A; Keagle PJ; Piotrowska K; Press R; Andersen PM; Ludolph AC; Weishaupt JH
    Neurobiol Aging; 2013 Jun; 34(6):1708.e1-6. PubMed ID: 23141414
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Mutations in the PFN1 gene are not a common cause in patients with amyotrophic lateral sclerosis and frontotemporal lobar degeneration in France.
    Lattante S; Le Ber I; Camuzat A; Brice A; Kabashi E
    Neurobiol Aging; 2013 Jun; 34(6):1709.e1-2. PubMed ID: 23182804
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Screening of the PFN1 gene in sporadic amyotrophic lateral sclerosis and in frontotemporal dementia.
    Tiloca C; Ticozzi N; Pensato V; Corrado L; Del Bo R; Bertolin C; Fenoglio C; Gagliardi S; Calini D; Lauria G; Castellotti B; Bagarotti A; Corti S; Galimberti D; Cagnin A; Gabelli C; Ranieri M; Ceroni M; Siciliano G; Mazzini L; Cereda C; Scarpini E; Sorarù G; Comi GP; D'Alfonso S; Gellera C; Ratti A; Landers JE; Silani V;
    Neurobiol Aging; 2013 May; 34(5):1517.e9-10. PubMed ID: 23063648
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Annexin A11 aggregation in FTLD-TDP type C and related neurodegenerative disease proteinopathies.
    Robinson JL; Suh E; Xu Y; Hurtig HI; Elman L; McMillan CT; Irwin DJ; Porta S; Van Deerlin VM; Lee EB
    Acta Neuropathol; 2024 Jun; 147(1):104. PubMed ID: 38896345
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Gain-of-function profilin 1 mutations linked to familial amyotrophic lateral sclerosis cause seed-dependent intracellular TDP-43 aggregation.
    Tanaka Y; Nonaka T; Suzuki G; Kametani F; Hasegawa M
    Hum Mol Genet; 2016 Apr; 25(7):1420-33. PubMed ID: 26908597
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Familial Amyotrophic Lateral Sclerosis-linked Mutations in Profilin 1 Exacerbate TDP-43-induced Degeneration in the Retina of Drosophila melanogaster through an Increase in the Cytoplasmic Localization of TDP-43.
    Matsukawa K; Hashimoto T; Matsumoto T; Ihara R; Chihara T; Miura M; Wakabayashi T; Iwatsubo T
    J Biol Chem; 2016 Nov; 291(45):23464-23476. PubMed ID: 27634045
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Pathological mechanisms underlying TDP-43 driven neurodegeneration in FTLD-ALS spectrum disorders.
    Janssens J; Van Broeckhoven C
    Hum Mol Genet; 2013 Oct; 22(R1):R77-87. PubMed ID: 23900071
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Distinct TDP-43 inclusion morphologies in frontotemporal lobar degeneration with and without amyotrophic lateral sclerosis.
    Tan RH; Yang Y; Kim WS; Dobson-Stone C; Kwok JB; Kiernan MC; Halliday GM
    Acta Neuropathol Commun; 2017 Oct; 5(1):76. PubMed ID: 29078806
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Novel mutations support a role for Profilin 1 in the pathogenesis of ALS.
    Smith BN; Vance C; Scotter EL; Troakes C; Wong CH; Topp S; Maekawa S; King A; Mitchell JC; Lund K; Al-Chalabi A; Ticozzi N; Silani V; Sapp P; Brown RH; Landers JE; Al-Sarraj S; Shaw CE
    Neurobiol Aging; 2015 Mar; 36(3):1602.e17-27. PubMed ID: 25499087
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Data-driven neuropathological staging and subtyping of TDP-43 proteinopathies.
    Young AL; Vogel JW; Robinson JL; McMillan CT; Ossenkoppele R; Wolk DA; Irwin DJ; Elman L; Grossman M; Lee VMY; Lee EB; Hansson O
    Brain; 2023 Jul; 146(7):2975-2988. PubMed ID: 37150879
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Comprehensive assessment of TDP-43 neuropathology data in the National Alzheimer's Coordinating Center database.
    Woodworth DC; Nguyen KM; Sordo L; Scambray KA; Head E; Kawas CH; Corrada MM; Nelson PT; Sajjadi SA
    Acta Neuropathol; 2024 Jun; 147(1):103. PubMed ID: 38896163
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Explorative genetic study of UBQLN2 and PFN1 in an extended Flanders-Belgian cohort of frontotemporal lobar degeneration patients.
    Dillen L; Van Langenhove T; Engelborghs S; Vandenbulcke M; Sarafov S; Tournev I; Merlin C; Cras P; Vandenberghe R; De Deyn PP; Jordanova A; Cruts M; Van Broeckhoven C; van der Zee J;
    Neurobiol Aging; 2013 Jun; 34(6):1711.e1-5. PubMed ID: 23312802
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Profilin1 E117G is a moderate risk factor for amyotrophic lateral sclerosis.
    Fratta P; Charnock J; Collins T; Devoy A; Howard R; Malaspina A; Orrell R; Sidle K; Clarke J; Shoai M; Lu CH; Hardy J; Plagnol V; Fisher EM
    J Neurol Neurosurg Psychiatry; 2014 May; 85(5):506-8. PubMed ID: 24309268
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Profilin 1 mutants form aggregates that induce accumulation of prion-like TDP-43.
    Tanaka Y; Hasegawa M
    Prion; 2016 Jul; 10(4):283-9. PubMed ID: 27432186
    [TBL] [Abstract][Full Text] [Related]  

  • 16. The RNA-binding motif 45 (RBM45) protein accumulates in inclusion bodies in amyotrophic lateral sclerosis (ALS) and frontotemporal lobar degeneration with TDP-43 inclusions (FTLD-TDP) patients.
    Collins M; Riascos D; Kovalik T; An J; Krupa K; Krupa K; Hood BL; Conrads TP; Renton AE; Traynor BJ; Bowser R
    Acta Neuropathol; 2012 Nov; 124(5):717-32. PubMed ID: 22993125
    [TBL] [Abstract][Full Text] [Related]  

  • 17. TDP-43 is consistently co-localized with ubiquitinated inclusions in sporadic and Guam amyotrophic lateral sclerosis but not in familial amyotrophic lateral sclerosis with and without SOD1 mutations.
    Maekawa S; Leigh PN; King A; Jones E; Steele JC; Bodi I; Shaw CE; Hortobagyi T; Al-Sarraj S
    Neuropathology; 2009 Dec; 29(6):672-83. PubMed ID: 19496940
    [TBL] [Abstract][Full Text] [Related]  

  • 18. A C9orf72 promoter repeat expansion in a Flanders-Belgian cohort with disorders of the frontotemporal lobar degeneration-amyotrophic lateral sclerosis spectrum: a gene identification study.
    Gijselinck I; Van Langenhove T; van der Zee J; Sleegers K; Philtjens S; Kleinberger G; Janssens J; Bettens K; Van Cauwenberghe C; Pereson S; Engelborghs S; Sieben A; De Jonghe P; Vandenberghe R; Santens P; De Bleecker J; Maes G; Bäumer V; Dillen L; Joris G; Cuijt I; Corsmit E; Elinck E; Van Dongen J; Vermeulen S; Van den Broeck M; Vaerenberg C; Mattheijssens M; Peeters K; Robberecht W; Cras P; Martin JJ; De Deyn PP; Cruts M; Van Broeckhoven C
    Lancet Neurol; 2012 Jan; 11(1):54-65. PubMed ID: 22154785
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Whole-genome sequencing reveals important role for TBK1 and OPTN mutations in frontotemporal lobar degeneration without motor neuron disease.
    Pottier C; Bieniek KF; Finch N; van de Vorst M; Baker M; Perkersen R; Brown P; Ravenscroft T; van Blitterswijk M; Nicholson AM; DeTure M; Knopman DS; Josephs KA; Parisi JE; Petersen RC; Boylan KB; Boeve BF; Graff-Radford NR; Veltman JA; Gilissen C; Murray ME; Dickson DW; Rademakers R
    Acta Neuropathol; 2015 Jul; 130(1):77-92. PubMed ID: 25943890
    [TBL] [Abstract][Full Text] [Related]  

  • 20. How do the RNA-binding proteins TDP-43 and FUS relate to amyotrophic lateral sclerosis and frontotemporal degeneration, and to each other?
    Baloh RH
    Curr Opin Neurol; 2012 Dec; 25(6):701-7. PubMed ID: 23041957
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 17.