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Items: 1 to 20 of 268

1.

Molecular analysis of SMN1, SMN2, NAIP, GTF2H2, and H4F5 genes in 157 Chinese patients with spinal muscular atrophy.

He J, Zhang QJ, Lin QF, Chen YF, Lin XZ, Lin MT, Murong SX, Wang N, Chen WJ.

Gene. 2013 Apr 15;518(2):325-9. doi: 10.1016/j.gene.2012.12.109. Epub 2013 Jan 23.

PMID:
23352792
2.

Correlation of SMN2, NAIP, p44, H4F5 and Occludin genes copy number with spinal muscular atrophy phenotype in Tunisian patients.

Amara A, Adala L, Ben Charfeddine I, Mamaï O, Mili A, Lazreg TB, H'mida D, Amri F, Salem N, Boughammura L, Saad A, Gribaa M.

Eur J Paediatr Neurol. 2012 Mar;16(2):167-74. doi: 10.1016/j.ejpn.2011.07.007. Epub 2011 Aug 6.

PMID:
21821450
3.

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. doi: 10.1016/j.braindev.2008.08.012. Epub 2008 Oct 7.

PMID:
18842367
4.

Deletion analysis of SMN1 and NAIP genes in Southern Chinese children with spinal muscular atrophy.

Liang YH, Chen XL, Yu ZS, Chen CY, Bi S, Mao LG, Zhou BL, Zhang XN.

J Zhejiang Univ Sci B. 2009 Jan;10(1):29-34. doi: 10.1631/jzus.B0820125.

5.

Correlation between deletion patterns of SMN and NAIP genes and the clinical features of spinal muscular atrophy in Indian patients.

Dastur RS, Gaitonde PS, Khadilkar SV, Udani VP, Nadkarni JJ.

Neurol India. 2006 Sep;54(3):255-9.

6.

[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. doi: 10.3760/cma.j.issn.1003-9406.2014.02.006. Chinese.

PMID:
24711022
7.

[Analysis of survival motor neuron gene conversion in patients with spinal muscular atrophy].

He SX, Ge XS, Qu YJ, Jin YW, Wang H, Bai JL, Song F.

Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2011 Dec;28(6):606-11. doi: 10.3760/cma.j.issn.1003-9406.2011.06.002. Chinese.

PMID:
22161088
8.

Correlation between SMN2 copy number and clinical phenotype of spinal muscular atrophy: three SMN2 copies fail to rescue some patients from the disease severity.

Harada Y, Sutomo R, Sadewa AH, Akutsu T, Takeshima Y, Wada H, Matsuo M, Nishio H.

J Neurol. 2002 Sep;249(9):1211-9.

PMID:
12242541
9.

A genetic and phenotypic analysis in Spanish spinal muscular atrophy patients with c.399_402del AGAG, the most frequently found subtle mutation in the SMN1 gene.

Cuscó I, López E, Soler-Botija C, Jesús Barceló M, Baiget M, Tizzano EF.

Hum Mutat. 2003 Aug;22(2):136-43.

PMID:
12872254
10.

SMN2 and NAIP gene dosages in Vietnamese patients with spinal muscular atrophy.

Tran VK, Sasongko TH, Hong DD, Hoan NT, Dung VC, Lee MJ, Gunadi, Takeshima Y, Matsuo M, Nishio H.

Pediatr Int. 2008 Jun;50(3):346-51. doi: 10.1111/j.1442-200X.2008.02590.x.

PMID:
18533950
11.

Genotype-phenotype correlation of SMN locus genes in spinal muscular atrophy patients from India.

Kesari A, Idris MM, Chandak GR, Mittal B.

Exp Mol Med. 2005 Jun 30;37(3):147-54.

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14.

Phenotype modifiers of spinal muscular atrophy: the number of SMN2 gene copies, deletion in the NAIP gene and probably gender influence the course of the disease.

Jedrzejowska M, Milewski M, Zimowski J, Borkowska J, Kostera-Pruszczyk A, Sielska D, Jurek M, Hausmanowa-Petrusewicz I.

Acta Biochim Pol. 2009;56(1):103-8. Epub 2009 Mar 14.

15.

Molecular analysis of the spinal muscular atrophy and neuronal apoptosis inhibitory protein genes in Saudi patients with spinal muscular atrophy.

Al-Jumah M, Majumdar R, Al-Rajeh S, Awada A, Chaves-Carbello E, Salih M, Al-Shahwan S, Al-Subiey K, Al-Uthaim S.

Saudi Med J. 2003 Oct;24(10):1052-4.

PMID:
14578966
16.

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.

PMID:
15580564
17.

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. doi: 10.1016/j.braindev.2013.11.009. Epub 2013 Dec 17.

PMID:
24359787
19.

Deletion analysis of spinal muscular atrophy in southern Indian population.

Swaminathan B, Shylashree S, Purushottam M, Taly AB, Nalini A.

Neurol India. 2008 Jul-Sep;56(3):348-51.

20.

Analysis of point mutations in the SMN1 gene in SMA patients bearing a single SMN1 copy.

Zapletalová E, Hedvicáková P, Kozák L, Vondrácek P, Gaillyová R, Maríková T, Kalina Z, Jüttnerová V, Fajkus J, Fajkusová L.

Neuromuscul Disord. 2007 Jun;17(6):476-81. Epub 2007 May 1.

PMID:
17475491

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