Novel Splice-Site Mutation in SMN1 Associated with a very Severe SMA-I Phenotype-Reference-Cited by-同舟云学术

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Novel Splice-Site Mutation in SMN1 Associated with a very Severe SMA-I Phenotype

Published:2015-01-09 Issue:1 Volume:56 Page:212-215
ISSN:0895-8696
Container-title:Journal of Molecular Neuroscience
language:en
Short-container-title:J Mol Neurosci

Author:

Ronchi Dario,Previtali Stefano Carlo,Sora Maria Grazia Natali,Barera Graziano,Del Menico Benedetta,Corti Stefania,Bresolin Nereo,Comi Giacomo Pietro

Publisher

Springer Science and Business Media LLC

Subject

Cellular and Molecular Neuroscience,General Medicine

Link

http://link.springer.com/content/pdf/10.1007/s12031-014-0483-4.pdf

Reference12 articles.

1. Crawford TO, Paushkin SV, Kobayashi DT et al (2012) Pilot study of biomarkers for spinal muscular atrophy trial group. Evaluation of SMN protein, transcript, and copy number in the biomarkers for spinal muscular atrophy (BforSMA) clinical study. PLoS One 7:e33572

2. Gómez-Curet I, Robinson KG, Funanage VL, Crawford TO, Scavina M, Wang W (2007) Robust quantification of the SMN gene copy number by real-time TaqMan PCR. Neurogenetics 8:271–278

3. He J, Zhang QJ, Lin QF et al (2003) Molecular analysis of SMN1, SMN2, NAIP, GTF2H2, and H4F5 genes in 157 Chinese patients with spinal muscular atrophy. Gene 518:325–329

4. Lefebvre S, Bürglen L, Reboullet S et al (1995) Identification and characterization of a spinal muscular atrophy-determining gene. Cell 80:155–165

5. Locatelli D, D'Errico P, Capra S et al (2012) Spinal muscular atrophy pathogenic mutations impair the axonogenic properties of axonal-survival of motor neuron. J Neurochem 121:465–474

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1. Spinal muscular atrophy caused by compound heterozygous SMN1 mutations: two cases and literature review;Neurological Sciences;2024-07-08

2. Real-world evidence: Risdiplam in a patient with spinal muscular atrophy type I with a novel splicing mutation and one SMN2 copy;Human Molecular Genetics;2024-03-23

3. A super minigene with a short promoter and truncated introns recapitulates essential features of transcription and splicing regulation of the SMN1 and SMN2 genes;Nucleic Acids Research;2024-01-12

4. Spinal muscular atrophy type I associated with a novel SMN1 splicing variant that disrupts the expression of the functional transcript;Frontiers in Neurology;2023-09-20

5. High-throughput screening reveals novel mutations in spinal muscular atrophy patients;Italian Journal of Pediatrics;2020-11-04

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