Literature DB >> 22510849

Clinical utility gene card for: proximal spinal muscular atrophy.

Sabine Rudnik-Schöneborn1, Thomas Eggermann, Wolfram Kress, Henny H Lemmink, Jan-Maarten Cobben, Klaus Zerres.   

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Year:  2012        PMID： 22510849      PMCID： PMC3355269          DOI： 10.1038/ejhg.2012.62

Source DB:  PubMed          Journal:  Eur J Hum Genet        ISSN： 1018-4813            Impact factor:   4.246


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  17 in total

1.  Determination of SMN1 and SMN2 copy number using TaqMan technology.

Authors:  Dirk Anhuf; Thomas Eggermann; Sabine Rudnik-Schöneborn; Klaus Zerres
Journal:  Hum Mutat       Date:  2003-07       Impact factor: 4.878

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

Authors:  B Wirth; T Schmidt; E Hahnen; S Rudnik-Schöneborn; M Krawczak; B Müller-Myhsok; J Schönling; K Zerres
Journal:  Am J Hum Genet       Date:  1997-11       Impact factor: 11.025

3.  International SMA consortium meeting. (26-28 June 1992, Bonn, Germany).

Authors:  T L Munsat; K E Davies
Journal:  Neuromuscul Disord       Date:  1992       Impact factor: 4.296

4.  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

5.  PCR-based DNA test to confirm clinical diagnosis of autosomal recessive spinal muscular atrophy.

Authors:  G van der Steege; P M Grootscholten; P van der Vlies; T G Draaijers; J Osinga; J M Cobben; H Scheffer; C H Buys
Journal:  Lancet       Date:  1995-04-15       Impact factor: 79.321

6.  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

7.  Molecular analysis of SMA patients without homozygous SMN1 deletions using a new strategy for identification of SMN1 subtle mutations.

Authors:  Olivier Clermont; Philippe Burlet; Paule Benit; Dominique Chanterau; Pascale Saugier-Veber; Arnold Munnich; Veronica Cusin
Journal:  Hum Mutat       Date:  2004-11       Impact factor: 4.878

8.  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.

Authors:  Ivon Cuscó; Eva López; Carolina Soler-Botija; María Jesús Barceló; Montserrat Baiget; Eduardo F Tizzano
Journal:  Hum Mutat       Date:  2003-08       Impact factor: 4.878

9.  Identification and characterization of a spinal muscular atrophy-determining gene.

Authors:  S Lefebvre; L Bürglen; S Reboullet; O Clermont; P Burlet; L Viollet; B Benichou; C Cruaud; P Millasseau; M Zeviani
Journal:  Cell       Date:  1995-01-13       Impact factor: 41.582

10.  Pan-ethnic carrier screening and prenatal diagnosis for spinal muscular atrophy: clinical laboratory analysis of >72,400 specimens.

Authors:  Elaine A Sugarman; Narasimhan Nagan; Hui Zhu; Viatcheslav R Akmaev; Zhaoqing Zhou; Elizabeth M Rohlfs; Kerry Flynn; Brant C Hendrickson; Thomas Scholl; Deborah Alexa Sirko-Osadsa; Bernice A Allitto
Journal:  Eur J Hum Genet       Date:  2011-08-03       Impact factor: 4.246
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  2 in total

Review 1.  Spinal muscular atrophy--recent therapeutic advances for an old challenge.

Authors:  Irene Faravelli; Monica Nizzardo; Giacomo P Comi; Stefania Corti
Journal:  Nat Rev Neurol       Date:  2015-05-19       Impact factor: 42.937

2.  Senataxin protects the genome: Implications for neurodegeneration and other abnormalities.

Authors:  Martin F Lavin; Abrey J Yeo; Olivier J Becherel
Journal:  Rare Dis       Date:  2013-06-06
  2 in total

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