1212 related articles for article (PubMed ID: 28620717)
1. 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]
2. The First Historically Reported Italian Family with FTD/ALS Teaches a Lesson on C9orf72 RE: Clinical Heterogeneity and Oligogenic Inheritance.
Giannoccaro MP; Bartoletti-Stella A; Piras S; Casalena A; Oppi F; Ambrosetto G; Montagna P; Liguori R; Parchi P; Capellari S
J Alzheimers Dis; 2018; 62(2):687-697. PubMed ID: 29480190
[TBL] [Abstract][Full Text] [Related]
3. OPTN p.Met468Arg and ATXN2 intermediate length polyQ extension in families with C9orf72 mediated amyotrophic lateral sclerosis and frontotemporal dementia.
Farhan SMK; Gendron TF; Petrucelli L; Hegele RA; Strong MJ
Am J Med Genet B Neuropsychiatr Genet; 2018 Jan; 177(1):75-85. PubMed ID: 29080331
[TBL] [Abstract][Full Text] [Related]
4. 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]
5. [Genetic architecture of amyotrophic lateral sclerosis and frontotemporal dementia : Overlap and differences].
Synofzik M; Otto M; Ludolph A; Weishaupt JH
Nervenarzt; 2017 Jul; 88(7):728-735. PubMed ID: 28573364
[TBL] [Abstract][Full Text] [Related]
6. [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]
7. Mutation analysis of SOD1, C9orf72, TARDBP and FUS genes in ethnically-diverse Malaysian patients with amyotrophic lateral sclerosis (ALS).
Edgar S; Ellis M; Abdul-Aziz NA; Goh KJ; Shahrizaila N; Kennerson ML; Ahmad-Annuar A
Neurobiol Aging; 2021 Dec; 108():200-206. PubMed ID: 34404558
[TBL] [Abstract][Full Text] [Related]
8. Screening for the C9ORF72 repeat expansion in a greek frontotemporal dementia cohort.
Kartanou C; Karadima G; Koutsis G; Breza M; Papageorgiou SG; Paraskevas GP; Kapaki E; Panas M
Amyotroph Lateral Scler Frontotemporal Degener; 2018 Feb; 19(1-2):152-154. PubMed ID: 29166782
[TBL] [Abstract][Full Text] [Related]
9. 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]
10. Oligogenicity, C9orf72 expansion, and variant severity in ALS.
Ross JP; Leblond CS; Laurent SB; Spiegelman D; Dionne-Laporte A; Camu W; Dupré N; Dion PA; Rouleau GA
Neurogenetics; 2020 Jul; 21(3):227-242. PubMed ID: 32385536
[TBL] [Abstract][Full Text] [Related]
11. Longitudinal imaging in
Floeter MK; Bageac D; Danielian LE; Braun LE; Traynor BJ; Kwan JY
Neuroimage Clin; 2016; 12():1035-1043. PubMed ID: 27995069
[TBL] [Abstract][Full Text] [Related]
12. Frequency of C9orf72 hexanucleotide repeat expansion and SOD1 mutations in Portuguese patients with amyotrophic lateral sclerosis.
Gromicho M; Pinto S; Gisca E; Pronto-Laborinho AC; Andersen PM; de Carvalho M
Neurobiol Aging; 2018 Oct; 70():325.e7-325.e15. PubMed ID: 29861044
[TBL] [Abstract][Full Text] [Related]
13. C9orf72 ALS-FTD: recent evidence for dysregulation of the autophagy-lysosome pathway at multiple levels.
Beckers J; Tharkeshwar AK; Van Damme P
Autophagy; 2021 Nov; 17(11):3306-3322. PubMed ID: 33632058
[TBL] [Abstract][Full Text] [Related]
14. 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]
15. Different CSF protein profiles in amyotrophic lateral sclerosis and frontotemporal dementia with
Barschke P; Oeckl P; Steinacker P; Al Shweiki MR; Weishaupt JH; Landwehrmeyer GB; Anderl-Straub S; Weydt P; Diehl-Schmid J; Danek A; Kornhuber J; Schroeter ML; Prudlo J; Jahn H; Fassbender K; Lauer M; van der Ende EL; van Swieten JC; Volk AE; Ludolph AC; Otto M;
J Neurol Neurosurg Psychiatry; 2020 May; 91(5):503-511. PubMed ID: 32132225
[TBL] [Abstract][Full Text] [Related]
16. Targeted next-generation sequencing study in familial ALS-FTD Portuguese patients negative for C9orf72 HRE.
Gromicho M; Coutinho AM; Pronto-Laborinho AC; Raposeiro R; Tavares J; Antunes D; de Carvalho M
J Neurol; 2020 Dec; 267(12):3578-3592. PubMed ID: 32638105
[TBL] [Abstract][Full Text] [Related]
17. Genetics insight into the amyotrophic lateral sclerosis/frontotemporal dementia spectrum.
Ji AL; Zhang X; Chen WW; Huang WJ
J Med Genet; 2017 Mar; 54(3):145-154. PubMed ID: 28087719
[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. 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]
20. All in the Family: Repeats and ALS/FTD.
Pattamatta A; Cleary JD; Ranum LPW
Trends Neurosci; 2018 May; 41(5):247-250. PubMed ID: 29703376
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
