Sorting Rare ALS Genetic Variants by Targeted Re-Sequencing Panel in Italian Patients:
amyotrophic lateral sclerosis
gene panel
genetic heterogeneity
mutation screening
next generation sequencing
Journal
Journal of clinical medicine
ISSN: 2077-0383
Titre abrégé: J Clin Med
Pays: Switzerland
ID NLM: 101606588
Informations de publication
Date de publication:
03 Feb 2020
03 Feb 2020
Historique:
received:
23
12
2019
revised:
25
01
2020
accepted:
29
01
2020
entrez:
8
2
2020
pubmed:
8
2
2020
medline:
8
2
2020
Statut:
epublish
Résumé
Amyotrophic lateral sclerosis (ALS) is an adult-onset progressive neurodegenerative disease due to motor neuron loss variably associated with frontotemporal dementia (FTD). Next generation sequencing technology revealed an increasing number of rare and novel genetic variants and interpretation of their pathogenicity represents a major challange in the diagnosis of ALS. We selected 213 consecutive patients with sporadic or familial (16%) ALS, tested negative for
Identifiants
pubmed: 32028661
pii: jcm9020412
doi: 10.3390/jcm9020412
pmc: PMC7073901
pii:
doi:
Types de publication
Journal Article
Langues
eng
Subventions
Organisme : Ministero della Salute
ID : RF 2013-02355764
Organisme : Fondazione Regionale per la Ricerca Biomedica (Regione Lombardia)
ID : FRRB 2015-0023
Déclaration de conflit d'intérêts
The authors declare no conflict of interest.
Références
Neurobiol Aging. 2017 Mar;51:178.e11-178.e20
pubmed: 28089114
Science. 2009 Feb 27;323(5918):1205-8
pubmed: 19251627
Neurology. 2012 Oct 9;79(15):1556-62
pubmed: 22972638
Clin Genet. 2018 Jan;93(1):119-125
pubmed: 28692196
Amyotroph Lateral Scler. 2011 May;12(3):223-7
pubmed: 21190393
Neurology. 2006 Aug 22;67(4):644-51
pubmed: 16790606
Nat Neurosci. 2014 Jan;17(1):17-23
pubmed: 24369373
Am J Hum Genet. 2009 Jan;84(1):85-8
pubmed: 19118816
Neurology. 2015 Aug 25;85(8):665-74
pubmed: 26208961
Lancet Neurol. 2016 Oct;15(11):1182-94
pubmed: 27647646
Nat Rev Neurol. 2013 Nov;9(11):617-28
pubmed: 24126629
Hum Mutat. 2009 Apr;30(4):688-94
pubmed: 19224587
Eur J Neurol. 2018 Mar;25(3):e41-e42
pubmed: 29464931
J Neurol Neurosurg Psychiatry. 2011 Nov;82(11):1239-43
pubmed: 21613650
Nat Rev Dis Primers. 2017 Oct 05;3:17071
pubmed: 28980624
J Neurol Neurosurg Psychiatry. 2018 Aug;89(8):817-827
pubmed: 29650794
Neurology. 2013 Jan 29;80(5):458-63
pubmed: 23303844
N Engl J Med. 2017 Jul 13;377(2):162-172
pubmed: 28700839
Neurology. 2018 Aug 14;91(7):e635-e642
pubmed: 30045958
Neurobiol Aging. 2017 May;53:194.e1-194.e8
pubmed: 28160950
Nature. 1993 Mar 4;362(6415):59-62
pubmed: 8446170
Am J Hum Genet. 2004 Jun;74(6):1128-35
pubmed: 15106121
Lancet Neurol. 2014 Nov;13(11):1108-1113
pubmed: 25300936
Amyotroph Lateral Scler Frontotemporal Degener. 2019 May;20(3-4):275-277
pubmed: 30661401
Front Neurol. 2019 Feb 06;10:68
pubmed: 30787905
Nature. 2007 Jul 5;448(7149):68-72
pubmed: 17572665
Science. 2008 Mar 21;319(5870):1668-72
pubmed: 18309045
Neurobiol Aging. 2017 Mar;51:178.e1-178.e9
pubmed: 28017481
Neuron. 2010 Dec 9;68(5):857-64
pubmed: 21145000
Nat Genet. 2004 Apr;36(4):377-81
pubmed: 15034582
BMC Med Genet. 2015 Sep 21;16:84
pubmed: 26392352
Neuromuscul Disord. 2009 May;19(5):316-23
pubmed: 19364651
Genet Med. 2015 May;17(5):405-24
pubmed: 25741868
Neurobiol Aging. 2011 Mar;32(3):555.e13-4
pubmed: 21074290
Muscle Nerve. 2014 Jun;49(6):786-803
pubmed: 24488689
Brain. 2011 Jul;134(Pt 7):1959-71
pubmed: 21705420
Neurobiol Aging. 2015 Mar;36(3):1600.e5-8
pubmed: 25588603
JAMA Neurol. 2013 Nov;70(11):1403-10
pubmed: 24042580
Arch Neurol. 2011 Nov;68(11):1440-6
pubmed: 22084127
Neurobiol Aging. 2012 Oct;33(10):2528.e7-14
pubmed: 22766072
Nat Rev Neurol. 2017 Feb;13(2):96-104
pubmed: 27982040
Neurology. 2009 Oct 13;73(15):1180-5
pubmed: 19741215
J Med Genet. 2010 Mar;47(3):190-4
pubmed: 19861302
Am J Hum Genet. 2002 Jun;70(6):1582-8
pubmed: 11992264
Nature. 2010 May 13;465(7295):223-6
pubmed: 20428114
J Med Genet. 2013 Nov;50(11):776-83
pubmed: 23881933
Trends Neurosci. 2013 Aug;36(8):450-9
pubmed: 23746459
Eur J Neurol. 2012 Mar;19(3):501-9
pubmed: 22040362
J Neurol Neurosurg Psychiatry. 2017 Jul;88(7):540-549
pubmed: 28057713
Am J Hum Genet. 2003 May;72(5):1293-9
pubmed: 12690580
Ann Neurol. 2015 Jan;77(1):100-13
pubmed: 25382069
Brain Res. 2015 May 14;1607:75-93
pubmed: 25316630
Acta Neuropathol. 2015 Jul;130(1):77-92
pubmed: 25943890