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Items: 1 to 20 of 220

1.

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.

2.

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
3.

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
4.

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
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.

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
7.

NAIP-deletion analysis in Malaysian patients with spinal muscular atrophy.

Watihayati MS, Zabidi AM, Tang TH, Nishio H, Zilfalil BA.

Kobe J Med Sci. 2007;53(4):171-5. Erratum in: Kobe J Med Sci. 2008;54(4):E191. M S, Watihayati [corrected to Waihayati, Mohd Shamshudin]; A M H, Zabidi-Hussin [corrected to Zabidi, Azhar-Mohd-Hussin]; T H, Tang [corrected to Tang, Thean Hock]; H, Nishio [corrected to Nishio, Hisahide]; B A, Zilfalil [corrected to Zilfalil, Bin Alwi].

8.

Molecular analysis of the SMN1 and NAIP genes in Iranian patients with spinal muscular atrophy.

Derakhshandeh-Peykar P, Esmaili M, Ousati-Ashtiani Z, Rahmani M, Babrzadeh F, Farshidi S, Attaran E, Sajedifar MM, Farhud DD.

Ann Acad Med Singapore. 2007 Nov;36(11):937-41.

9.

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.

10.

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.

11.

Mildly affected patients with spinal muscular atrophy are partially protected by an increased SMN2 copy number.

Wirth B, Brichta L, Schrank B, Lochmüller H, Blick S, Baasner A, Heller R.

Hum Genet. 2006 May;119(4):422-8. Epub 2006 Mar 1.

PMID:
16508748
12.

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
13.

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
14.

Molecular genetics of spinal muscular atrophy: contribution of the NAIP gene to clinical severity.

Akutsu T, Nishio H, Sumino K, Takeshima Y, Tsuneishi S, Wada H, Takada S, Matsuo M, Nakamura H.

Kobe J Med Sci. 2002 Apr;48(1-2):25-31.

15.

Study of survival of motor neuron (SMN) and neuronal apoptosis inhibitory protein (NAIP) gene deletions in SMA patients.

Kesari A, Misra UK, Kalita J, Mishra VN, Pradhan S, Patil SJ, Phadke SR, Mittal B.

J Neurol. 2005 Jun;252(6):667-71. Epub 2005 Mar 18.

PMID:
15772743
16.

Deletion of the SMN1 and NAIP genes in Vietnamese patients with spinal muscular atrophy.

Nguyen DB, Sadewa AH, Takeshima Y, Sutomo R, Tran VK, Nguyen TN, Nguyen TH, Vu CD, Dang DH, Harada Y, Nishio H, Matsuo M.

Kobe J Med Sci. 2003;49(3-4):55-8.

17.

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
18.

High incidence of SMN1 gene deletion in Moroccan adult-onset spinal muscular atrophy patients.

Bouhouche A, Benomar A, Birouk N, Bouslam N, Ouazzani R, Yahyaoui M, Chkili T.

J Neurol. 2003 Oct;250(10):1209-13.

PMID:
14586604
19.

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.

20.

Unaffected patients with a homozygous absence of the SMN1 gene.

Jedrzejowska M, Borkowska J, Zimowski J, Kostera-Pruszczyk A, Milewski M, Jurek M, Sielska D, Kostyk E, Nyka W, Zaremba J, Hausmanowa-Petrusewicz I.

Eur J Hum Genet. 2008 Aug;16(8):930-4. doi: 10.1038/ejhg.2008.41. Epub 2008 Mar 12.

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