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Items: 1 to 20 of 121

1.

Spinal muscular atrophy: clinical spectrum and genetic mutations in Pakistani children.

Ibrahim S, Moatter T, Saleem AF.

Neurol India. 2012 May-Jun;60(3):294-8. doi: 10.4103/0028-3886.98514.

2.

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.

3.

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.

4.

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
5.

Molecular analysis of candidate genes on chromosome 5q13 in autosomal recessive spinal muscular atrophy: evidence of homozygous deletions of the SMN gene in unaffected individuals.

Hahnen E, Forkert R, Marke C, Rudnik-Schöneborn S, Schönling J, Zerres K, Wirth B.

Hum Mol Genet. 1995 Oct;4(10):1927-33.

PMID:
8595417
6.

Deletions in the survival motor neuron gene in Iranian patients with spinal muscular atrophy.

Hasanzad M, Golkar Z, Kariminejad R, Hadavi V, Almadani N, Afroozan F, Salahshurifar I, Shafeghati Y, Kahrizi K, Najmabadi H.

Ann Acad Med Singapore. 2009 Feb;38(2):139-41.

7.

[Study of SMN gene in Chinese children with spinal muscular atrophy].

Liu WL, Li F, Ma HW, Li HY.

Zhongguo Dang Dai Er Ke Za Zhi. 2010 Jul;12(7):539-43. Chinese.

8.

Transmission ratio distortion in the spinal muscular atrophy locus: data from 314 prenatal tests.

Botta A, Tacconelli A, Bagni I, Giardina E, Bonifazi E, Pietropolli A, Clementi M, Novelli G.

Neurology. 2005 Nov 22;65(10):1631-5.

PMID:
16301493
9.

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
10.

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.

11.

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.

12.

[Clinical, electrophysiological and molecular study of 26 chilean patients with spinal muscular atrophy].

Castiglioni C, Levicán J, Rodillo E, Garmendia MA, Díaz A, Pizarro L, Contreras L.

Rev Med Chil. 2011 Feb;139(2):197-204. doi: /S0034-98872011000200009. Epub 2011 Jul 11. Spanish.

13.

Multiplex ligation-dependent probe amplification improves diagnostics in spinal muscular atrophy.

Arkblad EL, Darin N, Berg K, Kimber E, Brandberg G, Lindberg C, Holmberg E, Tulinius M, Nordling M.

Neuromuscul Disord. 2006 Dec;16(12):830-8. Epub 2006 Oct 17.

PMID:
17049859
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.

Deletions in the SMN and NAIP genes in patients with spinal muscular atrophy in Croatia.

Sertić J, Barisić N, Sostarko M, Bosnjak N, Culić V, Cvitanović L, Ferencak G, Brzović Z, Stavljenić-Rukavina A.

Coll Antropol. 1997 Dec;21(2):487-92.

PMID:
9439064
16.

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
17.

Molecular analysis of survival motor neuron (SMN) and neuronal apoptosis inhibitory protein (NAIP) genes of spinal muscular atrophy patients and their parents.

Chang JG, Jong YJ, Lin SP, Soong BW, Tsai CH, Yang TY, Chang CP, Wang WS.

Hum Genet. 1997 Oct;100(5-6):577-81.

PMID:
9341874
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.

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
20.

[Molecular genetic diagnosis and deletion analysis in Type I-III spinal muscular atrophy].

Spiegel R, Hagmann A, Boltshauser E, Moser H.

Schweiz Med Wochenschr. 1996 May 25;126(21):907-14. Review. German.

PMID:
8693311

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