Referencias bibliográficas

1. Siddique T, Figlewicz DA, Pericak-Vance MA, Haines JL, Rouleau G, Jeffers AJ, et al. Linkage of a gene causing familial amyotrophic lateral sclerosis to chromosome 21 and evidence of genetic-locus heterogeneity. N Engl J Med. 1991 May 16;324(20):1381-4. Erratum in: N Engl J Med 1991 Aug 15;325(7):524. Erratum in: N Engl J Med 1991 Jul 4;325(1):71. [Pubmed]
2. Renton AE, Chiò A, Traynor BJ. State of play in amyotrophic lateral sclerosis genetics. Nat Neurosci. 2014 Jan;17(1):17-23. [Pubmed]
3. Corcia P, Couratier P, Blasco H, Andres CR, Beltran S, Meininger V, Vourc'h P. Genetics of amyotrophic lateral sclerosis. Rev Neurol (Paris). 2017 May;173(5):254-62. [Pubmed]
4. Rosen DR, Siddique T, Patterson D, Figlewicz DA, Sapp P, Hentati A, et al. Mutations in Cu/Zn superoxide dismutase gene are associated with familial amyotrophic lateral sclerosis. Nature. 1993 Mar 4;362(6415):59-62. Erratum in: Nature. 1993 Jul 22;364(6435):362. [Pubmed]
5. Bewley GC. Nucleic Acids Research. Nucleic Acids Res. 2016;44(1):i–i.
6. Robberecht W, Aguirre T, Van den Bosch L, Tilkin P, Cassiman JJ, Matthijs G. D90A heterozygosity in the SOD1 gene is associated with familial and apparently sporadic amyotrophic lateral sclerosis. Neurology. 1996 Nov;47(5):1336-9. [Pubmed]
7. Kawamata J, Shimohama S, Takano S, Harada K, Ueda K, Kimura J. Novel G16S (GGC-AGC) mutation in the SOD-1 gene in a patient with apparently sporadic young-onset amyotrophic lateral sclerosis. Hum Mutat. 1997;9(4):356-8. [Pubmed]
8. Crapo JD, Oury T, Rabouille C, Slot JW, Chang LY. Copper,zinc superoxide dismutase is primarily a cytosolic protein in human cells. Proc Natl Acad Sci U S A. 1992 Nov 1;89(21):10405-9. [Pubmed]
9. Neumann M, Sampathu DM, Kwong LK, Truax AC, Micsenyi MC, Chou TT, et al. Ubiquitinated TDP-43 in frontotemporal lobar degeneration and amyotrophic lateral sclerosis. Science. 2006 Oct 6;314(5796):130-3. [Pubmed]
10. Kabashi E, Valdmanis PN, Dion P, Spiegelman D, McConkey BJ, Vande Velde C, et al. TARDBP mutations in individuals with sporadic and familial amyotrophic lateral sclerosis. Nat Genet. 2008 May;40(5):572-4. [Pubmed]
11. Sreedharan J, Blair IP, Tripathi VB, Hu X, Vance C, Rogelj B, et al. TDP-43 mutations in familial and sporadic amyotrophic lateral sclerosis. Science. 2008 Mar 21;319(5870):1668-72. [Pubmed]
12. Kwiatkowski TJ Jr, Bosco DA, Leclerc AL, Tamrazian E, Vanderburg CR, Russ C, et al. Mutations in the FUS/TLS gene on chromosome 16 cause familial amyotrophic lateral sclerosis. Science. 2009 Feb 27;323(5918):1205-8. [Pubmed]
13. Vance C, Rogelj B, Hortobágyi T, De Vos KJ, Nishimura AL, Sreedharan J, et al. Mutations in FUS, an RNA processing protein, cause familial amyotrophic lateral sclerosis type 6. Science. 2009 Feb 27;323(5918):1208-11. [Pubmed]
14. Bäumer D, Hilton D, Paine SM, Turner MR, Lowe J, Talbot K, Ansorge O. Juvenile ALS with basophilic inclusions is a FUS proteinopathy with FUS mutations. Neurology. 2010 Aug 17;75(7):611-8. [Pubmed]
15. Van Es MA, Veldink JH, Saris CGJ, Blauw HM, Van Vught PWJ, Birve A, et al. Genome-wide association study identifies 19p13.3 (UNC13A) and 9p21.2 as susceptibility loci for sporadic amyotrophic lateral sclerosis. Nat Genet. 2009 Oct;41(10):1083-7. [Pubmed]
16. Laaksovirta H, Peuralinna T, Schymick JC, Scholz SW, Lai SL, Myllykangas L, et al. Chromosome 9p21 in amyotrophic lateral sclerosis in Finland: a genome-wide association study. Lancet Neurol. 2010 Oct;9(10):978-85. [Pubmed]
17. Shatunov A, Mok K, Newhouse S, Weale ME, Smith B, Vance C, et al. Chromosome 9p21 in sporadic amyotrophic lateral sclerosis in the UK and seven other countries: a genome-wide association study. Lancet Neurol. 2010 Oct;9(10):986-94. Erratum in: Lancet Neurol. 2011 Mar;10(3):205. [Pubmed]
18. Morgan S, Shatunov A, Sproviero W, Jones AR, Shoai M, Hughes D, et al. A comprehensive analysis of rare genetic variation in amyotrophic lateral sclerosis in the UK. Brain. 2017 Jun 1;140(6):1611-8. [Pubmed]
19. Renton AE, Majounie E, Waite A, Simón-Sánchez J, Rollinson S, Gibbs JR, et al. A hexanucleotide repeat expansion in C9ORF72 is the cause of chromosome 9p21-linked ALS-FTD. Neuron. 2011 Oct 20;72(2):257-68. [Pubmed]
20. DeJesús-Hernández M, Mackenzie IR, Boeve BF, Boxer AL, Baker M, Rutherford NJ, et al. Expanded GGGGCC hexanucleotide repeat in noncoding region of C9ORF72 causes chromosome 9p-linked FTD and ALS. Neuron. 2011 Oct 20;72(2):245-56. [Pubmed]
21. Majounie E, Renton AE, Mok K, Dopper EG, Waite A, Rollinson S, et al.; Chromosome 9-ALS/FTD Consortium; French research network on FTLD/FTLD/ALS; ITALSGEN Consortium. Frequency of the C9orf72 hexanucleotide repeat expansion in patients with amyotrophic lateral sclerosis and frontotemporal dementia: a cross-sectional study. Lancet Neurol. 2012 Apr;11(4):323-30. [Pubmed]
22. Mok K, Traynor BJ, Schymick J, Tienari PJ, Laaksovirta H, Peuralinna T, et al. Chromosome 9 ALS and FTD locus is probably derived from a single founder. Neurobiol Aging. 2012 Jan;33(1):209.e3-8. [Pubmed]
23. Byrne S, Heverin M, Elamin M, Walsh C, Hardiman O. Intermediate repeat expansion length in C9orf72 may be pathological in amyotrophic lateral sclerosis. Amyotroph Lateral Scler Frontotemporal Degener. 2014 Mar;15(1-2):148-50. [Pubmed]
24. Rohrer JD, Isaacs AM, Mizielinska S, Mead S, Lashley T, Wray S, et al. C9orf72 expansions in frontotemporal dementia and amyotrophic lateral sclerosis. Lancet Neurol. 2015 Mar;14(3):291-301. Erratum in: Lancet Neurol. 2015 Apr;14(4):350. [Pubmed]
25. Mahoney CJ, Beck J, Rohrer JD, Lashley T, Mok K, Shakespeare T, et al. Frontotemporal dementia with the C9ORF72 hexanucleotide repeat expansion: clinical, neuroanatomical and neuropathological features. Brain. 2012 Mar;135(Pt 3):736-50. [Pubmed]
26. García-Redondo A, Dols-Icardo O, Rojas-García R, Esteban-Pérez J, Cordero-Vázquez P, Muñoz-Blanco JL, et al. Analysis of the C9orf72 gene in patients with amyotrophic lateral sclerosis in Spain and different populations worldwide. Hum Mutat. 2013 Jan;34(1):79-82. [Pubmed]
27. Murray ME, DeJesús-Hernández M, Rutherford NJ, Baker M, Duara R, Graff-Radford NR, et al. Clinical and neuropathologic heterogeneity of c9FTD/ALS associated with hexanucleotide repeat expansion in C9ORF72. Acta Neuropathol. 2011 Dec;122(6):673-90. [Pubmed]
28. Hensman Moss DJ, Poulter M, Beck J, Hehir J, Polke JM, Campbell T, et al. C9orf72 expansions are the most common genetic cause of Huntington disease phenocopies. Neurology. 2014 Jan 28;82(4):292-9. Erratum in: Neurology. 2014 May 13;82(19):1753. [Pubmed]
29. Sanger F, Nicklen S, Coulson AR. DNA sequencing with chain-terminating inhibitors. Proc Natl Acad Sci U S A. 1977 Dec;74(12):5463-7. [Pubmed]
30. Wang K, Li M, Hakonarson H. ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data. Nucleic Acids Res. 2010 Sep;38(16):e164. [Pubmed]
31. Fuentes-Arderiu X. What is a biomarker? It's time for a renewed definition. Clin Chem Lab Med. 2013 Sep;51(9):1689-90. [Pubmed]
32. De Schaepdryver M, Jeromin A, Gille B, Claeys KG, Herbst V, Brix B, et al. Comparison of elevated phosphorylated neurofilament heavy chains in serum and cerebrospinal fluid of patients with amyotrophic lateral sclerosis. J Neurol Neurosurg Psychiatry. 2018 Apr;89(4):367-73. [Pubmed]
33. Poesen K, Van Damme P. Diagnostic and Prognostic Performance of Neurofilaments in ALS. Front Neurol. 2019 Jan 18;9:1167. [Pubmed]
34. Abu-Rumeileh S, Vacchiano V, Zenesini C, Polischi B, de Pasqua S, Fileccia E, et al.; BoReALS. Diagnostic-prognostic value and electrophysiological correlates of CSF biomarkers of neurodegeneration and neuroinflammation in amyotrophic lateral sclerosis. J Neurol. 2020 Jun;267(6):1699-708. [Pubmed]
35. Poesen K, De Schaepdryver M, Stubendorff B, Gille B, Muckova P, Wendler S, et al. Neurofilament markers for ALS correlate with extent of upper and lower motor neuron disease. Neurology. 2017 Jun 13;88(24):2302-9. [Pubmed]
36. Van Rheenen W, Diekstra FP, Harschnitz O, Westeneng HJ, van Eijk KR, Saris CGJ, et al. Whole blood transcriptome analysis in amyotrophic lateral sclerosis: A biomarker study. PLoS One. 2018 Jun 25;13(6):e0198874. [Pubmed]
37. Gagliardi S, Zucca S, Pandini C, Diamanti L, Bordoni M, Sproviero D, et al. Long non-coding and coding RNAs characterization in Peripheral Blood Mononuclear Cells and Spinal Cord from Amyotrophic Lateral Sclerosis patients. Sci Rep. 2018 Feb 5;8(1):2378. [Pubmed]
38. Kuźma-Kozakiewicz M, Berdyński M, Morita M, Takahashi Y, Kawata A, Kaida K, et al. Recurrent K3E mutation in Cu/Zn superoxide dismutase gene associated with amyotrophic lateral sclerosis. Amyotroph Lateral Scler Frontotemporal Degener. 2013 Dec;14(7-8):608-14. [Pubmed]
39. Vijayakumar UG, Milla V, Cynthia Stafford MY, Bjourson AJ, Duddy W, Duguez SM. A Systematic Review of Suggested Molecular Strata, Biomarkers and Their Tissue Sources in ALS. Front Neurol. 2019 May 14;10:400. [Pubmed]
40. Liguori M, Nuzziello N, Introna A, Consiglio A, Licciulli F, D'Errico E, et al. Dysregulation of MicroRNAs and Target Genes Networks in Peripheral Blood of Patients With Sporadic Amyotrophic Lateral Sclerosis. Front Mol Neurosci. 2018 Aug 28;11:288. Erratum in: Front Mol Neurosci. 2019 Jan 10;11:488. [Pubmed]
41. Cloutier F, Marrero A, O'Connell C, Morin P Jr. MicroRNAs as potential circulating biomarkers for amyotrophic lateral sclerosis. J Mol Neurosci. 2015 May;56(1):102-12. [Pubmed]
42. Bartel DP. Metazoan MicroRNAs. Cell. 2018 Mar 22;173(1):20-51. [Pubmed]
43. Eichhorn CD, Kang M, Feigon J. Structure and function of preQ1 riboswitches. Biochim Biophys Acta. 2014 Oct;1839(10):939-50. [Pubmed]
44. Weber JA, Baxter DH, Zhang S, Huang DY, Huang KH, Lee MJ, et al. The microRNA spectrum in 12 body fluids. Clin Chem. 2010 Nov;56(11):1733-41. [Pubmed]
45. Kozomara A, Griffiths-Jones S. miRBase: annotating high confidence microRNAs using deep sequencing data. Nucleic Acids Res. 2014 Jan;42(Database issue):D68-73. [Pubmed]
46. Godlewski J, Lenart J, Salinska E. MicroRNA in Brain pathology: Neurodegeneration the Other Side of the Brain Cancer. Noncoding RNA. 2019 Feb 23;5(1):20. [Pubmed]
47. Rao P, Benito E, Fischer A. MicroRNAs as biomarkers for CNS disease. Front Mol Neurosci. 2013 Nov 26;6:39. [Pubmed]