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Literature DB >> 23297012

PCR-RFLP, sequencing, and quantification in molecular diagnosis of spinal muscular atrophy: limits and advantages.

Abstract

Spinal muscular atrophy (SMA) is a severe neuromuscular disease. It is a common cause of infant mortality. Its incidence is estimated at 1 in 10,000. Clinically, age of onset and the symptoms can distinguish four types of SMA. The objective of this study is to make available to clinicians a reliable and reproducible test for the molecular diagnosis of SMA. We evaluate the benefits and limitations of three tests used in our laboratory (RFLP-PCR, sequencing, and qPCR).

Entities: Disease Species

Mesh：

Substances：

Year: 2013 PMID： 23297012 DOI： 10.1007/s12031-012-9944-9

Source DB: PubMed Journal: J Mol Neurosci ISSN： 0895-8696 Impact factor: 3.444

8 in total

1. The predictive value of achieved motor milestones assessed in 441 patients with infantile spinal muscular atrophy types II and III.

Authors: S Rudnik-Schöneborn; I Hausmanowa-Petrusewicz; J Borkowska; K Zerres
Journal: Eur Neurol Date: 2001 Impact factor: 1.710

2. Identification of proximal spinal muscular atrophy carriers and patients by analysis of SMNT and SMNC gene copy number.

Authors: P E McAndrew; D W Parsons; L R Simard; C Rochette; P N Ray; J R Mendell; T W Prior; A H Burghes
Journal: Am J Hum Genet Date: 1997-06 Impact factor: 11.025

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

Authors: B Wirth; L Brichta; B Schrank; H Lochmüller; S Blick; A Baasner; R Heller
Journal: Hum Genet Date: 2006-03-01 Impact factor: 4.132

4. A single nucleotide difference that alters splicing patterns distinguishes the SMA gene SMN1 from the copy gene SMN2.

Authors: U R Monani; C L Lorson; D W Parsons; T W Prior; E J Androphy; A H Burghes; J D McPherson
Journal: Hum Mol Genet Date: 1999-07 Impact factor: 6.150

5. Quantitative analyses of SMN1 and SMN2 based on real-time lightCycler PCR: fast and highly reliable carrier testing and prediction of severity of spinal muscular atrophy.

Authors: Markus Feldkötter; Verena Schwarzer; Radu Wirth; Thomas F Wienker; Brunhilde Wirth
Journal: Am J Hum Genet Date: 2001-12-21 Impact factor: 11.025

6. In vivo activation of SMN in spinal muscular atrophy carriers and patients treated with valproate.

Authors: Lars Brichta; Irmgard Holker; Karsten Haug; Thomas Klockgether; Brunhilde Wirth
Journal: Ann Neurol Date: 2006-06 Impact factor: 10.422

7. Sequence of a 131-kb region of 5q13.1 containing the spinal muscular atrophy candidate genes SMN and NAIP.

Authors: Q Chen; S D Baird; M Mahadevan; A Besner-Johnston; R Farahani; J Xuan; X Kang; C Lefebvre; J E Ikeda; R G Korneluk; A E MacKenzie
Journal: Genomics Date: 1998-02-15 Impact factor: 5.736

8. Natural history in proximal spinal muscular atrophy. Clinical analysis of 445 patients and suggestions for a modification of existing classifications.

Authors: K Zerres; S Rudnik-Schöneborn
Journal: Arch Neurol Date: 1995-05