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Literature DB >> 8125489

Chronic childhood spinal muscular atrophy in Germany (West-Thüringen)--an epidemiological study.

A Thieme¹, B Mitulla, F Schulze, A W Spiegler.

Abstract

This study presents the most extensive epidemiological data on chronic forms of spinal muscular atrophy in childhood (CSMA) in West-Thüringen in Germany. The incidence of CSMA was calculated to be 1 in 9,420 live births. The prevalence was 1.624 in 100,000 of the general population (as of 31 December 1980).

Entities: Chemical Disease

Mesh：

Year: 1994 PMID： 8125489 DOI： 10.1007/bf00212036

Source DB: PubMed Journal: Hum Genet ISSN： 0340-6717 Impact factor: 4.132

20 in total

1. Phenotypic heterogeneity of spinal muscular atrophy mapping to chromosome 5q11.2-13.3 (SMA 5q).

Authors: T L Munsat; L Skerry; B Korf; B Pober; Y Schapira; G G Gascon; S M al-Rajeh; V Dubowitz; K Davies; L M Brzustowicz
Journal: Neurology Date: 1990-12 Impact factor: 9.910

2. Proximal spinal muscular atrophy (SMA) types II and III in the same sibship are not caused by different alleles at the SMA locus on 5q.

Authors: B Müller; J Melki; P Burlet; F Clerget-Darpoux
Journal: Am J Hum Genet Date: 1992-05 Impact factor: 11.025

3. In situ hybridization of two markers closely flanking the spinal muscular atrophy gene to 5q12----q13.3.

Authors: M G Mattei; J Melki; M F Bachelot; S Abdelhak; P Burlet; J Frézal; A Munnich
Journal: Cytogenet Cell Genet Date: 1991

4. High incidence of spinal muscular atrophy type I (Werdnig - Hoffmann disease) in the Karaite community in Israel.

Authors: K Fried; G Mundel
Journal: Clin Genet Date: 1977-10 Impact factor: 4.438

5. Genetic mapping of chronic childhood-onset spinal muscular atrophy to chromosome 5q11.2-13.3.

Authors: L M Brzustowicz; T Lehner; L H Castilla; G K Penchaszadeh; K C Wilhelmsen; R Daniels; K E Davies; M Leppert; F Ziter; D Wood
Journal: Nature Date: 1990-04-05 Impact factor: 49.962

6. The gene frequency of acute Werdnig-Hoffmann disease (SMA type 1). A total population survey in North-East England.

Authors: J H Pearn
Journal: J Med Genet Date: 1973-09 Impact factor: 6.318

7. Infantile and juvenile spinal muscular atrophy.

Authors: I Hausmanowa-Petrusewicz; W Askanas; B Badurska; B Emeryk; A Fidziańska; W Garbalińska; L Hetnarska; Z Kamieniecka; J Prot; I Niebrój-Dobosz; H Jedrzejowska; E Sawicka
Journal: J Neurol Sci Date: 1968 Mar-Apr Impact factor: 3.181

8. A hungarian study on Werdnig-Hoffmann disease.

Authors: A Czeizel; J Hamula
Journal: J Med Genet Date: 1989-12 Impact factor: 6.318

9. Cluster of acute infantile spinal muscular atrophy (Werdnig-Hoffmann disease) in a limited area of Reunion Island.

Authors: M J Pascalet-Guidon; E Bois; J Feingold; J F Mattei; J C Combes; C Hamon
Journal: Clin Genet Date: 1984-07 Impact factor: 4.438

10. Mapping of acute (type I) spinal muscular atrophy to chromosome 5q12-q14. The French Spinal Muscular Atrophy Investigators.

Authors: J Melki; P Sheth; S Abdelhak; P Burlet; M F Bachelot; M G Lathrop; J Frezal; A Munnich
Journal: Lancet Date: 1990-08-04 Impact factor: 79.321

4 in total

1. Severe SMA mice show organ impairment that cannot be rescued by therapy with the HDACi JNJ-26481585.

Authors: Julia Schreml; Markus Riessland; Mario Paterno; Lutz Garbes; Kristina Roßbach; Bastian Ackermann; Jan Krämer; Eilidh Somers; Simon H Parson; Raoul Heller; Albrecht Berkessel; Anja Sterner-Kock; Brunhilde Wirth
Journal: Eur J Hum Genet Date: 2012-10-17 Impact factor: 4.246