415 related articles for article (PubMed ID: 25838041)
1. Two Japanese Patients With SMA Type 1 Suggest that Axonal-SMN May Not Modify the Disease Severity.
Yamada H; Nishida Y; Maihara T; Sa'adah N; Harahap NI; Nurputra DK; Ar Rochmah M; Nishimura N; Saito T; Kubo Y; Saito K; Nishio H
Pediatr Neurol; 2015 Jun; 52(6):638-41. PubMed ID: 25838041
[TBL] [Abstract][Full Text] [Related]
2. A paucisymptomatic neuromuscular disease mimicking type III 5q-SMA with complex rearrangements in the SMN gene.
Lohkamp LN; von Au K; Goebel HH; Kress W; Grieben U; Drossel K; Garbes L; Wirth B; Heppner FL; Stenzel W
J Child Neurol; 2014 Feb; 29(2):254-9. PubMed ID: 24334346
[TBL] [Abstract][Full Text] [Related]
3. Molecular and functional analysis of intragenic SMN1 mutations in patients with spinal muscular atrophy.
Sun Y; Grimmler M; Schwarzer V; Schoenen F; Fischer U; Wirth B
Hum Mutat; 2005 Jan; 25(1):64-71. PubMed ID: 15580564
[TBL] [Abstract][Full Text] [Related]
4. Intragenic mutations in SMN1 may contribute more significantly to clinical severity than SMN2 copy numbers in some spinal muscular atrophy (SMA) patients.
Yamamoto T; Sato H; Lai PS; Nurputra DK; Harahap NI; Morikawa S; Nishimura N; Kurashige T; Ohshita T; Nakajima H; Yamada H; Nishida Y; Toda S; Takanashi J; Takeuchi A; Tohyama Y; Kubo Y; Saito K; Takeshima Y; Matsuo M; Nishio H
Brain Dev; 2014 Nov; 36(10):914-20. PubMed ID: 24359787
[TBL] [Abstract][Full Text] [Related]
5. [Quantitative analysis of the genes determining spinal muscular atrophy].
Nagymihály M; Herczegfalvi A; Tímár L; Karcagi V
Ideggyogy Sz; 2009 Nov; 62(11-12):390-7. PubMed ID: 20025129
[TBL] [Abstract][Full Text] [Related]
6. The gene copy ratios of SMN1/SMN2 in Japanese carriers with type I spinal muscular atrophy.
Diep Tran T; Kroepfl T; Saito M; Nagura M; Ichiseki H; Kubota M; Toda T; Sakakihara Y
Brain Dev; 2001 Aug; 23(5):321-6. PubMed ID: 11504604
[TBL] [Abstract][Full Text] [Related]
7. [Mutation analysis of SMN gene in a patient and his family with spinal muscular atrophy].
Zeng J; Lin YH; Yan AZ; Cai MY; Ke LF; Lan FH
Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2009 Apr; 26(2):139-43. PubMed ID: 19350502
[TBL] [Abstract][Full Text] [Related]
8. [Analysis and carrier screening for copy numbers of SMN and NAIP genes in children with spinal muscular atrophy].
Zeng G; Zheng H; Cheng J; Chen R; Lin H; Yang J; Zhang D
Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2014 Apr; 31(2):152-5. PubMed ID: 24711022
[TBL] [Abstract][Full Text] [Related]
9. [Mutation analysis of SMN1 gene in patients with spinal muscular atrophy].
DU J; Qu YJ; Xiong H; Li EZ; Jin YW; Bai JL; Wang H; Song F
Zhonghua Er Ke Za Zhi; 2011 Jun; 49(6):411-5. PubMed ID: 21924051
[TBL] [Abstract][Full Text] [Related]
10. [SMN1 Gene Point Mutations in Type I-IV Proximal Spinal Muscular Atrophy Patients with a Single Copy of SMN1].
Genetika; 2015 Sep; 51(9):1075-82. PubMed ID: 26606804
[TBL] [Abstract][Full Text] [Related]
11. Spinal muscular atrophy diagnostics.
Prior TW
J Child Neurol; 2007 Aug; 22(8):952-6. PubMed ID: 17761649
[TBL] [Abstract][Full Text] [Related]
12. ZPR1 prevents R-loop accumulation, upregulates SMN2 expression and rescues spinal muscular atrophy.
Kannan A; Jiang X; He L; Ahmad S; Gangwani L
Brain; 2020 Jan; 143(1):69-93. PubMed ID: 31828288
[TBL] [Abstract][Full Text] [Related]
13. [Molecular analysis of survival motor neuron gene in 338 suspicious children patients with spinal muscular atrophy].
Song F; Qu YJ; Zou LP; Wang LW; Long MJ; Wang X; Yang YL; Chen Q; Wang H; Jin YW
Zhonghua Er Ke Za Zhi; 2008 Dec; 46(12):919-23. PubMed ID: 19134255
[TBL] [Abstract][Full Text] [Related]
14. Combination of SMN2 copy number and NAIP deletion predicts disease severity in spinal muscular atrophy.
Watihayati MS; Fatemeh H; Marini M; Atif AB; Zahiruddin WM; Sasongko TH; Tang TH; Zabidi-Hussin ZA; Nishio H; Zilfalil BA
Brain Dev; 2009 Jan; 31(1):42-5. PubMed ID: 18842367
[TBL] [Abstract][Full Text] [Related]
15. Association between the SMN2 gene copy number and clinical characteristics of patients with spinal muscular atrophy with homozygous deletion of exon 7 of the SMN1 gene.
Zarkov M; Stojadinović A; Sekulić S; Barjaktarović I; Perić S; Keković G; Drasković B; Stević Z
Vojnosanit Pregl; 2015 Oct; 72(10):859-63. PubMed ID: 26665550
[TBL] [Abstract][Full Text] [Related]
16. Spinal muscular atrophy type III: Molecular genetic characterization of Turkish patients.
Bora-Tatar G; Yesbek-Kaymaz A; Bekircan-Kurt CE; Erdem-Özdamar S; Erdem-Yurter H
Eur J Med Genet; 2015 Dec; 58(12):654-8. PubMed ID: 26548498
[TBL] [Abstract][Full Text] [Related]
17. Genetic and expression studies of SMN2 gene in Russian patients with spinal muscular atrophy type II and III.
Zheleznyakova GY; Kiselev AV; Vakharlovsky VG; Rask-Andersen M; Chavan R; Egorova AA; Schiöth HB; Baranov VS
BMC Med Genet; 2011 Jul; 12():96. PubMed ID: 21762474
[TBL] [Abstract][Full Text] [Related]
18. Genetic study of SMA patients without homozygous SMN1 deletions: identification of compound heterozygotes and characterisation of novel intragenic SMN1 mutations.
Martín Y; Valero A; del Castillo E; Pascual SI; Hernández-Chico C
Hum Genet; 2002 Mar; 110(3):257-63. PubMed ID: 11935338
[TBL] [Abstract][Full Text] [Related]
19. Genotype-phenotype relationship in 2 SMA III patients with novel mutations in the Tudor domain.
Fraidakis MJ; Drunat S; Maisonobe T; Gerard B; Pradat PF; Meininger V; Salachas F
Neurology; 2012 Feb; 78(8):551-6. PubMed ID: 22323744
[TBL] [Abstract][Full Text] [Related]
20. [Molecular diagnosis of spinal muscular atrophy by multiplex ligation-dependent probe amplification].
Zeng J; Ke LF; Deng XJ; Cai MY; Tu XD; Lan FH
Zhonghua Yi Xue Za Zhi; 2008 Dec; 88(46):3262-4. PubMed ID: 19159550
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]