BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

317 related articles for article (PubMed ID: 22550220)

  • 1. ALS/FTD phenotype in two Sardinian families carrying both C9ORF72 and TARDBP mutations.
    Chiò A; Restagno G; Brunetti M; Ossola I; Calvo A; Canosa A; Moglia C; Floris G; Tacconi P; Marrosu F; Marrosu MG; Murru MR; Majounie E; Renton AE; Abramzon Y; Pugliatti M; Sotgiu MA; Traynor BJ; Borghero G;
    J Neurol Neurosurg Psychiatry; 2012 Jul; 83(7):730-3. PubMed ID: 22550220
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Genetic architecture of ALS in Sardinia.
    Borghero G; Pugliatti M; Marrosu F; Marrosu MG; Murru MR; Floris G; Cannas A; Parish LD; Occhineri P; Cau TB; Loi D; Ticca A; Traccis S; Manera U; Canosa A; Moglia C; Calvo A; Barberis M; Brunetti M; Pliner HA; Renton AE; Nalls MA; Traynor BJ; Restagno G; Chiò A;
    Neurobiol Aging; 2014 Dec; 35(12):2882.e7-2882.e12. PubMed ID: 25123918
    [TBL] [Abstract][Full Text] [Related]  

  • 3. 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]  

  • 4. A patient carrying a homozygous p.A382T TARDBP missense mutation shows a syndrome including ALS, extrapyramidal symptoms, and FTD.
    Borghero G; Floris G; Cannas A; Marrosu MG; Murru MR; Costantino E; Parish LD; Pugliatti M; Ticca A; Traynor BJ; Calvo A; Cammarosano S; Moglia C; Cistaro A; Brunetti M; Restagno G; Chiò A
    Neurobiol Aging; 2011 Dec; 32(12):2327.e1-5. PubMed ID: 21803454
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Multiple variants in families with amyotrophic lateral sclerosis and frontotemporal dementia related to C9orf72 repeat expansion: further observations on their oligogenic nature.
    Giannoccaro MP; Bartoletti-Stella A; Piras S; Pession A; De Massis P; Oppi F; Stanzani-Maserati M; Pasini E; Baiardi S; Avoni P; Parchi P; Liguori R; Capellari S
    J Neurol; 2017 Jul; 264(7):1426-1433. PubMed ID: 28620717
    [TBL] [Abstract][Full Text] [Related]  

  • 6. 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]  

  • 7. Analysis of known amyotrophic lateral sclerosis and frontotemporal dementia genes reveals a substantial genetic burden in patients manifesting both diseases not carrying the
    Dols-Icardo O; García-Redondo A; Rojas-García R; Borrego-Hernández D; Illán-Gala I; Muñoz-Blanco JL; Rábano A; Cervera-Carles L; Juárez-Rufián A; Spataro N; De Luna N; Galán L; Cortes-Vicente E; Fortea J; Blesa R; Grau-Rivera O; Lleó A; Esteban-Pérez J; Gelpi E; Clarimón J
    J Neurol Neurosurg Psychiatry; 2018 Feb; 89(2):162-168. PubMed ID: 28889094
    [TBL] [Abstract][Full Text] [Related]  

  • 8. 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]  

  • 9. A genetic association study of two genes linked to neurodegeneration in a Sardinian multiple sclerosis population: the TARDBP Ala382Thr mutation and C9orf72 expansion.
    Lorefice L; Murru MR; Fenu G; Corongiu D; Frau J; Cuccu S; Coghe GC; Tranquilli S; Cocco E; Marrosu MG
    J Neurol Sci; 2015 Oct; 357(1-2):229-34. PubMed ID: 26233805
    [TBL] [Abstract][Full Text] [Related]  

  • 10. 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]  

  • 11. Large proportion of amyotrophic lateral sclerosis cases in Sardinia due to a single founder mutation of the TARDBP gene.
    Chiò A; Borghero G; Pugliatti M; Ticca A; Calvo A; Moglia C; Mutani R; Brunetti M; Ossola I; Marrosu MG; Murru MR; Floris G; Cannas A; Parish LD; Cossu P; Abramzon Y; Johnson JO; Nalls MA; Arepalli S; Chong S; Hernandez DG; Traynor BJ; Restagno G;
    Arch Neurol; 2011 May; 68(5):594-8. PubMed ID: 21220647
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Comparative analysis of C9orf72 and sporadic disease in an ALS clinic population.
    Umoh ME; Fournier C; Li Y; Polak M; Shaw L; Landers JE; Hu W; Gearing M; Glass JD
    Neurology; 2016 Sep; 87(10):1024-30. PubMed ID: 27488601
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Phenotype difference between ALS patients with expanded repeats in C9ORF72 and patients with mutations in other ALS-related genes.
    Millecamps S; Boillée S; Le Ber I; Seilhean D; Teyssou E; Giraudeau M; Moigneu C; Vandenberghe N; Danel-Brunaud V; Corcia P; Pradat PF; Le Forestier N; Lacomblez L; Bruneteau G; Camu W; Brice A; Cazeneuve C; Leguern E; Meininger V; Salachas F
    J Med Genet; 2012 Apr; 49(4):258-63. PubMed ID: 22499346
    [TBL] [Abstract][Full Text] [Related]  

  • 14. 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]  

  • 15. 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]  

  • 16. Clinical and neuropathologic heterogeneity of c9FTD/ALS associated with hexanucleotide repeat expansion in C9ORF72.
    Murray ME; DeJesus-Hernandez M; Rutherford NJ; Baker M; Duara R; Graff-Radford NR; Wszolek ZK; Ferman TJ; Josephs KA; Boylan KB; Rademakers R; Dickson DW
    Acta Neuropathol; 2011 Dec; 122(6):673-90. PubMed ID: 22083254
    [TBL] [Abstract][Full Text] [Related]  

  • 17. [C9orf72 in Japanese amyotrophic lateral sclerosis (ALS)].
    Tomiyama H
    Rinsho Shinkeigaku; 2013; 53(11):1074-6. PubMed ID: 24291883
    [TBL] [Abstract][Full Text] [Related]  

  • 18. ATNX2 is not a regulatory gene in Italian amyotrophic lateral sclerosis patients with C9ORF72 GGGGCC expansion.
    Chiò A; Mora G; Sabatelli M; Caponnetto C; Lunetta C; Traynor BJ; Johnson JO; Nalls MA; Calvo A; Moglia C; Borghero G; Trojsi F; La Bella V; Volanti P; Simone I; Salvi F; Logullo FO; Riva N; Carrera P; Giannini F; Mandrioli J; Tanel R; Capasso M; Tremolizzo L; Battistini S; Murru MR; Origone P; Zollino M; Penco S; ; ; Mazzini L; D'Alfonso S; Restagno G; Brunetti M; Barberis M; Conforti FL
    Neurobiol Aging; 2016 Mar; 39():218.e5-8. PubMed ID: 26733254
    [TBL] [Abstract][Full Text] [Related]  

  • 19. 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]  

  • 20. The frequency of the C9orf72 expansion in a Brazilian population.
    Cintra VP; Bonadia LC; Andrade HMT; de Albuquerque M; Eusébio MF; de Oliveira DS; Claudino R; Gonçalves MVM; Teixeira AL; de Godoy Rousseff Prado L; de Souza LC; Dourado MET; Oliveira ASB; Tumas V; França MC; Marques W
    Neurobiol Aging; 2018 Jun; 66():179.e1-179.e4. PubMed ID: 29449030
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 16.