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Items: 1 to 20 of 123

1.

A frame-shift deletion in the survival motor neuron gene in Spanish spinal muscular atrophy patients.

Bussaglia E, Clermont O, Tizzano E, Lefebvre S, Bürglen L, Cruaud C, Urtizberea JA, Colomer J, Munnich A, Baiget M, et al.

Nat Genet. 1995 Nov;11(3):335-7.

PMID:
7581461
2.

Molecular analysis of the SMN and NAIP genes in Spanish spinal muscular atrophy (SMA) families and correlation between number of copies of cBCD541 and SMA phenotype.

Velasco E, Valero C, Valero A, Moreno F, Hernández-Chico C.

Hum Mol Genet. 1996 Feb;5(2):257-63. Erratum in: Hum Mol Genet 1996 May;5(5):710.

PMID:
8824882
3.

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
4.

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.

5.

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. Epub 2002 Feb 8.

PMID:
11935338
6.
7.
8.

Missense mutations in exon 6 of the survival motor neuron gene in patients with spinal muscular atrophy (SMA).

Hahnen E, Schönling J, Rudnik-Schöneborn S, Raschke H, Zerres K, Wirth B.

Hum Mol Genet. 1997 May;6(5):821-5.

PMID:
9158159
9.
10.

Hybrid survival motor neuron genes in Japanese patients with spinal muscular atrophy.

Nishio H, Horikawa H, Yakura H, Sugie K, Nakamuro T, Koterazawa K, Ishikawa Y, Lee MJ, Wada H, Takeshima Y, Matsuo M, Sumino K.

Acta Neurol Scand. 1999 Jun;99(6):374-80.

PMID:
10577272
12.

Cloning, characterization, and copy number of the murine survival motor neuron gene: homolog of the spinal muscular atrophy-determining gene.

DiDonato CJ, Chen XN, Noya D, Korenberg JR, Nadeau JH, Simard LR.

Genome Res. 1997 Apr;7(4):339-52.

13.

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
14.

SMN(T) and NAIP mutations in Canadian families with spinal muscular atrophy (SMA): genotype/phenotype correlations with disease severity.

Simard LR, Rochette C, Semionov A, Morgan K, Vanasse M.

Am J Med Genet. 1997 Oct 3;72(1):51-8.

PMID:
9295075
15.

Molecular diagnosis of non-deletion SMA patients using quantitative PCR of SMN exon 7.

Rochette CF, Surh LC, Ray PN, McAndrew PE, Prior TW, Burghes AH, Vanasse M, Simard LR.

Neurogenetics. 1997 Sep;1(2):141-7.

PMID:
10732817
16.

Characterisation of SMN hybrid genes in Spanish SMA patients: de novo, homozygous and compound heterozygous cases.

Cuscó I, Barceló MJ, del Rio E, Martín Y, Hernández-Chico C, Bussaglia E, Baiget M, Tizzano EF.

Hum Genet. 2001 Mar;108(3):222-9.

PMID:
11354634
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.
19.

Identification of a novel missense mutation of the SMN(T) gene in two siblings with spinal muscular atrophy.

Wang CH, Papendick BD, Bruinsma P, Day JK.

Neurogenetics. 1998 Aug;1(4):273-6.

PMID:
10732802
20.

De novo rearrangements found in 2% of index patients with spinal muscular atrophy: mutational mechanisms, parental origin, mutation rate, and implications for genetic counseling.

Wirth B, Schmidt T, Hahnen E, Rudnik-Schöneborn S, Krawczak M, Müller-Myhsok B, Schönling J, Zerres K.

Am J Hum Genet. 1997 Nov;61(5):1102-11.

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