541 related articles for article (PubMed ID: 22840558)
1. 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]
2. Identification of C9orf72 repeat expansions in patients with amyotrophic lateral sclerosis and frontotemporal dementia in mainland China.
Jiao B; Tang B; Liu X; Yan X; Zhou L; Yang Y; Wang J; Xia K; Shen L
Neurobiol Aging; 2014 Apr; 35(4):936.e19-22. PubMed ID: 24269022
[TBL] [Abstract][Full Text] [Related]
3. 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]
4. Long-read sequencing across the C9orf72 'GGGGCC' repeat expansion: implications for clinical use and genetic discovery efforts in human disease.
Ebbert MTW; Farrugia SL; Sens JP; Jansen-West K; Gendron TF; Prudencio M; McLaughlin IJ; Bowman B; Seetin M; DeJesus-Hernandez M; Jackson J; Brown PH; Dickson DW; van Blitterswijk M; Rademakers R; Petrucelli L; Fryer JD
Mol Neurodegener; 2018 Aug; 13(1):46. PubMed ID: 30126445
[TBL] [Abstract][Full Text] [Related]
5. Molecular Mechanisms of Neurodegeneration Related to
Babić Leko M; Župunski V; Kirincich J; Smilović D; Hortobágyi T; Hof PR; Šimić G
Behav Neurol; 2019; 2019():2909168. PubMed ID: 30774737
[TBL] [Abstract][Full Text] [Related]
6. How do C9ORF72 repeat expansions cause amyotrophic lateral sclerosis and frontotemporal dementia: can we learn from other noncoding repeat expansion disorders?
van Blitterswijk M; DeJesus-Hernandez M; Rademakers R
Curr Opin Neurol; 2012 Dec; 25(6):689-700. PubMed ID: 23160421
[TBL] [Abstract][Full Text] [Related]
7. Association between repeat sizes and clinical and pathological characteristics in carriers of C9ORF72 repeat expansions (Xpansize-72): a cross-sectional cohort study.
van Blitterswijk M; DeJesus-Hernandez M; Niemantsverdriet E; Murray ME; Heckman MG; Diehl NN; Brown PH; Baker MC; Finch NA; Bauer PO; Serrano G; Beach TG; Josephs KA; Knopman DS; Petersen RC; Boeve BF; Graff-Radford NR; Boylan KB; Petrucelli L; Dickson DW; Rademakers R
Lancet Neurol; 2013 Oct; 12(10):978-88. PubMed ID: 24011653
[TBL] [Abstract][Full Text] [Related]
8. 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]
9. C9orf72 expansions in frontotemporal dementia and amyotrophic lateral sclerosis.
Rohrer JD; Isaacs AM; Mizielinska S; Mead S; Lashley T; Wray S; Sidle K; Fratta P; Orrell RW; Hardy J; Holton J; Revesz T; Rossor MN; Warren JD
Lancet Neurol; 2015 Mar; 14(3):291-301. PubMed ID: 25638642
[TBL] [Abstract][Full Text] [Related]
10. Frontotemporal dementia with amyotrophic lateral sclerosis: a clinical comparison of patients with and without repeat expansions in C9orf72.
Snowden JS; Harris J; Richardson A; Rollinson S; Thompson JC; Neary D; Mann DM; Pickering-Brown S
Amyotroph Lateral Scler Frontotemporal Degener; 2013 Apr; 14(3):172-6. PubMed ID: 23421625
[TBL] [Abstract][Full Text] [Related]
11. Frequency of the C9orf72 hexanucleotide repeat expansion in patients with amyotrophic lateral sclerosis and frontotemporal dementia: a cross-sectional study.
Majounie E; Renton AE; Mok K; Dopper EG; Waite A; Rollinson S; Chiò A; Restagno G; Nicolaou N; Simon-Sanchez J; van Swieten JC; Abramzon Y; Johnson JO; Sendtner M; Pamphlett R; Orrell RW; Mead S; Sidle KC; Houlden H; Rohrer JD; Morrison KE; Pall H; Talbot K; Ansorge O; ; ; ; Hernandez DG; Arepalli S; Sabatelli M; Mora G; Corbo M; Giannini F; Calvo A; Englund E; Borghero G; Floris GL; Remes AM; Laaksovirta H; McCluskey L; Trojanowski JQ; Van Deerlin VM; Schellenberg GD; Nalls MA; Drory VE; Lu CS; Yeh TH; Ishiura H; Takahashi Y; Tsuji S; Le Ber I; Brice A; Drepper C; Williams N; Kirby J; Shaw P; Hardy J; Tienari PJ; Heutink P; Morris HR; Pickering-Brown S; Traynor BJ
Lancet Neurol; 2012 Apr; 11(4):323-30. PubMed ID: 22406228
[TBL] [Abstract][Full Text] [Related]
12. Modeling key pathological features of frontotemporal dementia with C9ORF72 repeat expansion in iPSC-derived human neurons.
Almeida S; Gascon E; Tran H; Chou HJ; Gendron TF; Degroot S; Tapper AR; Sellier C; Charlet-Berguerand N; Karydas A; Seeley WW; Boxer AL; Petrucelli L; Miller BL; Gao FB
Acta Neuropathol; 2013 Sep; 126(3):385-99. PubMed ID: 23836290
[TBL] [Abstract][Full Text] [Related]
13. Insights into the pathogenic mechanisms of Chromosome 9 open reading frame 72 (C9orf72) repeat expansions.
Todd TW; Petrucelli L
J Neurochem; 2016 Aug; 138 Suppl 1():145-62. PubMed ID: 27016280
[TBL] [Abstract][Full Text] [Related]
14. Retention of hexanucleotide repeat-containing intron in C9orf72 mRNA: implications for the pathogenesis of ALS/FTD.
Niblock M; Smith BN; Lee YB; Sardone V; Topp S; Troakes C; Al-Sarraj S; Leblond CS; Dion PA; Rouleau GA; Shaw CE; Gallo JM
Acta Neuropathol Commun; 2016 Feb; 4():18. PubMed ID: 26916632
[TBL] [Abstract][Full Text] [Related]
15. 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]
16. Corticobasal and ataxia syndromes widen the spectrum of C9ORF72 hexanucleotide expansion disease.
Lindquist SG; Duno M; Batbayli M; Puschmann A; Braendgaard H; Mardosiene S; Svenstrup K; Pinborg LH; Vestergaard K; Hjermind LE; Stokholm J; Andersen BB; Johannsen P; Nielsen JE
Clin Genet; 2013 Mar; 83(3):279-83. PubMed ID: 22650353
[TBL] [Abstract][Full Text] [Related]
17. C9orf72 Intermediate Alleles in Patients with Amyotrophic Lateral Sclerosis, Systemic Lupus Erythematosus, and Rheumatoid Arthritis.
Fredi M; Cavazzana I; Biasiotto G; Filosto M; Padovani A; Monti E; Tincani A; Franceschini F; Zanella I
Neuromolecular Med; 2019 Jun; 21(2):150-159. PubMed ID: 30859373
[TBL] [Abstract][Full Text] [Related]
18. 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]
19. [Impact of C9orf72 on Japanese Patients with Amytrophic Lateral Sclerosis (ALS)/Frontotemporal Dementia (FTD)].
Tomiyama H
Brain Nerve; 2019 Nov; 71(11):1190-1208. PubMed ID: 31722305
[TBL] [Abstract][Full Text] [Related]
20. [C9orf72 in Japanese amyotrophic lateral sclerosis (ALS)].
Tomiyama H
Rinsho Shinkeigaku; 2013; 53(11):1074-6. PubMed ID: 24291883
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]