157 related articles for article (PubMed ID: 30052327)
41. Clinical and genetic features of patients with amyotrophic lateral sclerosis in southern China.
Chen W; Xie Y; Zheng M; Lin J; Huang P; Pei Z; Yao X
Eur J Neurol; 2020 Jun; 27(6):1017-1022. PubMed ID: 32166880
[TBL] [Abstract][Full Text] [Related]
42. TARDBP gene mutations among Chinese patients with sporadic amyotrophic lateral sclerosis.
Huang R; Fang DF; Ma MY; Guo XY; Zhao B; Zeng Y; Zhou D; Yang Y; Shang HF
Neurobiol Aging; 2012 May; 33(5):1015.e1-6. PubMed ID: 20708823
[TBL] [Abstract][Full Text] [Related]
43. Mutation in the senataxin gene found in a patient affected by familial ALS with juvenile onset and slow progression.
Avemaria F; Lunetta C; Tarlarini C; Mosca L; Maestri E; Marocchi A; Melazzini M; Penco S; Corbo M
Amyotroph Lateral Scler; 2011 May; 12(3):228-30. PubMed ID: 21438761
[TBL] [Abstract][Full Text] [Related]
44. A novel mutation of VAPB in one Chinese familial amyotrophic lateral sclerosis pedigree and its clinical characteristics.
Sun YM; Dong Y; Wang J; Lu JH; Chen Y; Wu JJ
J Neurol; 2017 Dec; 264(12):2387-2393. PubMed ID: 28993872
[TBL] [Abstract][Full Text] [Related]
45. Intrafamilial phenotypic heterogeneity in a Taiwanese family with a MAPT p.R5H mutation: a case report and literature review.
Lin HC; Lin CH; Chen PL; Cheng SJ; Chen PH
BMC Neurol; 2017 Sep; 17(1):186. PubMed ID: 28923025
[TBL] [Abstract][Full Text] [Related]
46. SETX mutations are a frequent genetic cause of juvenile and adult onset cerebellar ataxia with neuropathy and elevated serum alpha-fetoprotein.
Nanetti L; Cavalieri S; Pensato V; Erbetta A; Pareyson D; Panzeri M; Zorzi G; Antozzi C; Moroni I; Gellera C; Brusco A; Mariotti C
Orphanet J Rare Dis; 2013 Aug; 8():123. PubMed ID: 23941260
[TBL] [Abstract][Full Text] [Related]
47. [A amyotrophic lateral sclerosis (ALS) 4 family misdiagnosed as hereditary spastic paraplegia-a case report].
Taniguchi T; Hokezu Y; Okada T; Ishibashi M; Hashiguchi A; Matsuura E; Takashima H
Rinsho Shinkeigaku; 2017 Nov; 57(11):685-690. PubMed ID: 29070749
[TBL] [Abstract][Full Text] [Related]
48. The Occurrence of FUS Mutations in Pediatric Amyotrophic Lateral Sclerosis: A Case Report and Review of the Literature.
Picher-Martel V; Brunet F; Dupré N; Chrestian N
J Child Neurol; 2020 Jul; 35(8):556-562. PubMed ID: 32281455
[TBL] [Abstract][Full Text] [Related]
49. One family, one gene and three phenotypes: A novel VCP (valosin-containing protein) mutation associated with myopathy with rimmed vacuoles, amyotrophic lateral sclerosis and frontotemporal dementia.
Abrahao A; Abath Neto O; Kok F; Zanoteli E; Santos B; Pinto WB; Barsottini OG; Oliveira AS; Pedroso JL
J Neurol Sci; 2016 Sep; 368():352-8. PubMed ID: 27538664
[TBL] [Abstract][Full Text] [Related]
50. A novel pore-region mutation, c.887G > A (p.G296D) in KCNQ4, causing hearing loss in a Chinese family with autosomal dominant non-syndromic deafness 2.
Huang B; Liu Y; Gao X; Xu J; Dai P; Zhu Q; Yuan Y
BMC Med Genet; 2017 Mar; 18(1):36. PubMed ID: 28340560
[TBL] [Abstract][Full Text] [Related]
51. Screening of GLE1 mutations in Chinese amyotrophic lateral sclerosis patients.
Zhang K; Liu Q; Shen D; Tai H; Fu H; Liu S; Chen J; Li X; Liu M; Zhang X; Cui L
Neurobiol Aging; 2018 Jun; 66():178.e9-178.e11. PubMed ID: 29398120
[TBL] [Abstract][Full Text] [Related]
52. [The association between angiogenin gene variations and familial amyotrophic lateral sclerosis in Chinese Han patients].
Zhang H; Zhang Y; Tang L; Zhang N; Fan D
Zhonghua Nei Ke Za Zhi; 2015 Feb; 54(2):122-4. PubMed ID: 25907842
[TBL] [Abstract][Full Text] [Related]
53. More autosomal dominant SPG18 cases than recessive? The first AD-SPG18 pedigree in Chinese and literature review.
Chen S; Zou JL; He S; Li W; Zhang JW; Li SJ
Brain Behav; 2021 Dec; 11(12):e32395. PubMed ID: 34734492
[TBL] [Abstract][Full Text] [Related]
54. [A case of motor and sensory polyneuropathy and respiratory failure with novel heterozygous mutation of the senataxin gene].
Kitao R; Honma Y; Hashiguchi A; Mizoguchi K; Takashima H; Komori T
Rinsho Shinkeigaku; 2020 Jul; 60(7):466-472. PubMed ID: 32536663
[TBL] [Abstract][Full Text] [Related]
55. A novel mutation of the SLC25A13 gene in a Chinese patient with citrin deficiency detected by target next-generation sequencing.
Liu G; Wei X; Chen R; Zhou H; Li X; Sun Y; Xie S; Zhu Q; Qu N; Yang G; Chu Y; Wu H; Lan Z; Wang J; Yang Y; Yi X
Gene; 2014 Jan; 533(2):547-53. PubMed ID: 24161253
[TBL] [Abstract][Full Text] [Related]
56. A SUMO-dependent interaction between Senataxin and the exosome, disrupted in the neurodegenerative disease AOA2, targets the exosome to sites of transcription-induced DNA damage.
Richard P; Feng S; Manley JL
Genes Dev; 2013 Oct; 27(20):2227-32. PubMed ID: 24105744
[TBL] [Abstract][Full Text] [Related]
57. SUMOylated Senataxin functions in genome stability, RNA degradation, and stress granule disassembly, and is linked with inherited ataxia and motor neuron disease.
Bennett CL; La Spada AR
Mol Genet Genomic Med; 2021 Dec; 9(12):e1745. PubMed ID: 34263556
[TBL] [Abstract][Full Text] [Related]
58. Novel FUS deletion in a patient with juvenile amyotrophic lateral sclerosis.
Belzil VV; Langlais JS; Daoud H; Dion PA; Brais B; Rouleau GA
Arch Neurol; 2012 May; 69(5):653-6. PubMed ID: 22248478
[TBL] [Abstract][Full Text] [Related]
59. Screening of the FUS gene in familial and sporadic amyotrophic lateral sclerosis patients of Chinese origin.
Zou ZY; Peng Y; Feng XH; Wang XN; Sun Q; Liu MS; Li XG; Cui LY
Eur J Neurol; 2012 Jul; 19(7):977-83. PubMed ID: 22340366
[TBL] [Abstract][Full Text] [Related]
60. Novel TARDBP missense mutation caused familial amyotrophic lateral sclerosis with frontotemporal dementia and parkinsonism.
Chen S; Zhou RL; Zhang W; Che CH; Feng SY; Huang HP; Liu CY; Zou ZY
Neurobiol Aging; 2021 Nov; 107():168-173. PubMed ID: 34175147
[TBL] [Abstract][Full Text] [Related]
[Previous] [Next] [New Search]