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Literature DB >> 25990799

Clinical utility gene card for: Proximal spinal muscular atrophy (SMA) - update 2015.

Sabine Rudnik-Schöneborn¹, Thomas Eggermann¹, Wolfram Kress², Henny H Lemmink³, Jan-Maarten Cobben⁴, Klaus Zerres¹.

Abstract

Entities: Disease

Mesh：

Substances：

Year: 2015 PMID： 25990799 PMCID： PMC4613485 DOI： 10.1038/ejhg.2015.90

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. 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

3. 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

4. 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

Review 5. Genetic testing and risk assessment for spinal muscular atrophy (SMA).

Authors: Shuji Ogino; Robert B Wilson
Journal: Hum Genet Date: 2002-10-03 Impact factor: 4.132

6. Mutation update of spinal muscular atrophy in Spain: molecular characterization of 745 unrelated patients and identification of four novel mutations in the SMN1 gene.

Authors: Laura Alías; Sara Bernal; Pablo Fuentes-Prior; María Jesus Barceló; Eva Also; Rebeca Martínez-Hernández; Francisco J Rodríguez-Alvarez; Yolanda Martín; Elena Aller; Elena Grau; Ana Peciña; Guillermo Antiñolo; Enrique Galán; Alberto L Rosa; Miguel Fernández-Burriel; Salud Borrego; José M Millán; Concepción Hernández-Chico; Montserrat Baiget; Eduardo F Tizzano
Journal: Hum Genet Date: 2008-12-03 Impact factor: 4.132

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