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.


BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

277 related articles for article (PubMed ID: 22343411)

  • 1. Whole-genome sequencing reveals a coding non-pathogenic variant tagging a non-coding pathogenic hexanucleotide repeat expansion in C9orf72 as cause of amyotrophic lateral sclerosis.
    Herdewyn S; Zhao H; Moisse M; Race V; Matthijs G; Reumers J; Kusters B; Schelhaas HJ; van den Berg LH; Goris A; Robberecht W; Lambrechts D; Van Damme P
    Hum Mol Genet; 2012 Jun; 21(11):2412-9. PubMed ID: 22343411
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Clinical characteristics of patients with familial amyotrophic lateral sclerosis carrying the pathogenic GGGGCC hexanucleotide repeat expansion of C9ORF72.
    Chiò A; Borghero G; Restagno G; Mora G; Drepper C; Traynor BJ; Sendtner M; Brunetti M; Ossola I; Calvo A; Pugliatti M; Sotgiu MA; Murru MR; Marrosu MG; Marrosu F; Marinou K; Mandrioli J; Sola P; Caponnetto C; Mancardi G; Mandich P; La Bella V; Spataro R; Conte A; Monsurrò MR; Tedeschi G; Pisano F; Bartolomei I; Salvi F; Lauria Pinter G; Simone I; Logroscino G; Gambardella A; Quattrone A; Lunetta C; Volanti P; Zollino M; Penco S; Battistini S; ; Renton AE; Majounie E; Abramzon Y; Conforti FL; Giannini F; Corbo M; Sabatelli M
    Brain; 2012 Mar; 135(Pt 3):784-93. PubMed ID: 22366794
    [TBL] [Abstract][Full Text] [Related]  

  • 3. The clinical and pathological phenotype of C9ORF72 hexanucleotide repeat expansions.
    Simón-Sánchez J; Dopper EG; Cohn-Hokke PE; Hukema RK; Nicolaou N; Seelaar H; de Graaf JR; de Koning I; van Schoor NM; Deeg DJ; Smits M; Raaphorst J; van den Berg LH; Schelhaas HJ; De Die-Smulders CE; Majoor-Krakauer D; Rozemuller AJ; Willemsen R; Pijnenburg YA; Heutink P; van Swieten JC
    Brain; 2012 Mar; 135(Pt 3):723-35. PubMed ID: 22300876
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Clinical and pathological features of familial frontotemporal dementia caused by C9ORF72 mutation on chromosome 9p.
    Hsiung GY; DeJesus-Hernandez M; Feldman HH; Sengdy P; Bouchard-Kerr P; Dwosh E; Butler R; Leung B; Fok A; Rutherford NJ; Baker M; Rademakers R; Mackenzie IR
    Brain; 2012 Mar; 135(Pt 3):709-22. PubMed ID: 22344582
    [TBL] [Abstract][Full Text] [Related]  

  • 5. 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]  

  • 6. C9orf72 hexanucleotide repeat expansions as the causative mutation for chromosome 9p21-linked amyotrophic lateral sclerosis and frontotemporal dementia.
    Daoud H; Suhail H; Sabbagh M; Belzil V; Szuto A; Dionne-Laporte A; Khoris J; Camu W; Salachas F; Meininger V; Mathieu J; Strong M; Dion PA; Rouleau GA
    Arch Neurol; 2012 Sep; 69(9):1159-63. PubMed ID: 22964911
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Expanded GGGGCC hexanucleotide repeat in noncoding region of C9ORF72 causes chromosome 9p-linked FTD and ALS.
    DeJesus-Hernandez M; Mackenzie IR; Boeve BF; Boxer AL; Baker M; Rutherford NJ; Nicholson AM; Finch NA; Flynn H; Adamson J; Kouri N; Wojtas A; Sengdy P; Hsiung GY; Karydas A; Seeley WW; Josephs KA; Coppola G; Geschwind DH; Wszolek ZK; Feldman H; Knopman DS; Petersen RC; Miller BL; Dickson DW; Boylan KB; Graff-Radford NR; Rademakers R
    Neuron; 2011 Oct; 72(2):245-56. PubMed ID: 21944778
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Clinico-pathological features in amyotrophic lateral sclerosis with expansions in C9ORF72.
    Cooper-Knock J; Hewitt C; Highley JR; Brockington A; Milano A; Man S; Martindale J; Hartley J; Walsh T; Gelsthorpe C; Baxter L; Forster G; Fox M; Bury J; Mok K; McDermott CJ; Traynor BJ; Kirby J; Wharton SB; Ince PG; Hardy J; Shaw PJ
    Brain; 2012 Mar; 135(Pt 3):751-64. PubMed ID: 22366792
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Characterization of frontotemporal dementia and/or amyotrophic lateral sclerosis associated with the GGGGCC repeat expansion in C9ORF72.
    Boeve BF; Boylan KB; Graff-Radford NR; DeJesus-Hernandez M; Knopman DS; Pedraza O; Vemuri P; Jones D; Lowe V; Murray ME; Dickson DW; Josephs KA; Rush BK; Machulda MM; Fields JA; Ferman TJ; Baker M; Rutherford NJ; Adamson J; Wszolek ZK; Adeli A; Savica R; Boot B; Kuntz KM; Gavrilova R; Reeves A; Whitwell J; Kantarci K; Jack CR; Parisi JE; Lucas JA; Petersen RC; Rademakers R
    Brain; 2012 Mar; 135(Pt 3):765-83. PubMed ID: 22366793
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Multiple system atrophy and amyotrophic lateral sclerosis in a family with hexanucleotide repeat expansions in C9orf72.
    Goldman JS; Quinzii C; Dunning-Broadbent J; Waters C; Mitsumoto H; Brannagan TH; Cosentino S; Huey ED; Nagy P; Kuo SH
    JAMA Neurol; 2014 Jun; 71(6):771-4. PubMed ID: 24733620
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Length of normal alleles of C9ORF72 GGGGCC repeat do not influence disease phenotype.
    Rutherford NJ; Heckman MG; Dejesus-Hernandez M; Baker MC; Soto-Ortolaza AI; Rayaprolu S; Stewart H; Finger E; Volkening K; Seeley WW; Hatanpaa KJ; Lomen-Hoerth C; Kertesz A; Bigio EH; Lippa C; Knopman DS; Kretzschmar HA; Neumann M; Caselli RJ; White CL; Mackenzie IR; Petersen RC; Strong MJ; Miller BL; Boeve BF; Uitti RJ; Boylan KB; Wszolek ZK; Graff-Radford NR; Dickson DW; Ross OA; Rademakers R
    Neurobiol Aging; 2012 Dec; 33(12):2950.e5-7. PubMed ID: 22840558
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Characterization of a family with c9FTD/ALS associated with the GGGGCC repeat expansion in C9ORF72.
    Savica R; Adeli A; Vemuri P; Knopman DS; Dejesus-Hernandez M; Rademakers R; Fields JA; Whitwell J; Jack CR; Lowe V; Petersen RC; Boeve BF
    Arch Neurol; 2012 Sep; 69(9):1164-9. PubMed ID: 22637471
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Japanese amyotrophic lateral sclerosis patients with GGGGCC hexanucleotide repeat expansion in C9ORF72.
    Konno T; Shiga A; Tsujino A; Sugai A; Kato T; Kanai K; Yokoseki A; Eguchi H; Kuwabara S; Nishizawa M; Takahashi H; Onodera O
    J Neurol Neurosurg Psychiatry; 2013 Apr; 84(4):398-401. PubMed ID: 23012445
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Cognitive and clinical characteristics of patients with amyotrophic lateral sclerosis carrying a C9orf72 repeat expansion: a population-based cohort study.
    Byrne S; Elamin M; Bede P; Shatunov A; Walsh C; Corr B; Heverin M; Jordan N; Kenna K; Lynch C; McLaughlin RL; Iyer PM; O'Brien C; Phukan J; Wynne B; Bokde AL; Bradley DG; Pender N; Al-Chalabi A; Hardiman O
    Lancet Neurol; 2012 Mar; 11(3):232-40. PubMed ID: 22305801
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Analysis of
    Kekenadze M; Rocca C; Turchetti V; Nagy S; Kvirkvelia N; Vashadze S; Kvaratskhelia E; Beridze M; Kaiyrzhanov R; Houlden H
    F1000Res; 2023; 12():1113. PubMed ID: 38464738
    [TBL] [Abstract][Full Text] [Related]  

  • 16. C9ORF72 repeat expansion in clinical and neuropathologic frontotemporal dementia cohorts.
    Dobson-Stone C; Hallupp M; Bartley L; Shepherd CE; Halliday GM; Schofield PR; Hodges JR; Kwok JB
    Neurology; 2012 Sep; 79(10):995-1001. PubMed ID: 22875086
    [TBL] [Abstract][Full Text] [Related]  

  • 17. The DNA damage response (DDR) is induced by the C9orf72 repeat expansion in amyotrophic lateral sclerosis.
    Farg MA; Konopka A; Soo KY; Ito D; Atkin JD
    Hum Mol Genet; 2017 Aug; 26(15):2882-2896. PubMed ID: 28481984
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Screening for C9orf72 repeat expansions in Chinese amyotrophic lateral sclerosis patients.
    Zou ZY; Li XG; Liu MS; Cui LY
    Neurobiol Aging; 2013 Jun; 34(6):1710.e5-6. PubMed ID: 23261768
    [TBL] [Abstract][Full Text] [Related]  

  • 19. C9orf72 hexanucleotide repeat expansions and Ataxin 2 intermediate length repeat expansions in Indian patients with amyotrophic lateral sclerosis.
    Narain P; Gomes J; Bhatia R; Singh I; Vivekanandan P
    Neurobiol Aging; 2017 Aug; 56():211.e9-211.e14. PubMed ID: 28527524
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Polymerase chain reaction and Southern blot-based analysis of the C9orf72 hexanucleotide repeat in different motor neuron diseases.
    Hübers A; Marroquin N; Schmoll B; Vielhaber S; Just M; Mayer B; Högel J; Dorst J; Mertens T; Just W; Aulitzky A; Wais V; Ludolph AC; Kubisch C; Weishaupt JH; Volk AE
    Neurobiol Aging; 2014 May; 35(5):1214.e1-6. PubMed ID: 24378086
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 14.