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Literature DB >> 11262992

Muscular dystrophies.

Abstract

The muscular dystrophies (MD) are a heterogenous group of genetically determined, variably inherited primary disorders of muscle that progress differently. The various forms can be distinguished by the combination of clinical, genetic and pathologic criteria, confirmation of the muscle biopsy should be with immunohistochemical staining rather than histological only. These and the gene deletion studies in the families have become essential diagnostic criteria.

Entities: Disease

Mesh：

Substances：
Dystrophin

Year: 2000 PMID： 11262992 DOI： 10.1007/bf02723959

Source DB: PubMed Journal: Indian J Pediatr ISSN： 0019-5456 Impact factor: 1.967

12 in total

1. Amelioration of the dystrophic phenotype of mdx mice using a truncated utrophin transgene.

Authors: J M Tinsley; A C Potter; S R Phelps; R Fisher; J I Trickett; K E Davies
Journal: Nature Date: 1996-11-28 Impact factor: 49.962

Review 2. Advances in the molecular genetics of the limb-girdle type of autosomal recessive progressive muscular dystrophy.

Authors: J S Beckmann; K M Bushby
Journal: Curr Opin Neurol Date: 1996-10 Impact factor: 5.710

3. 47th ENMC International Workshop: Treatment of Muscular Dystrophy. 13-15 December 1996, Naarden, The Netherlands.

Authors:
Journal: Neuromuscul Disord Date: 1997-06 Impact factor: 4.296

4. Prednisone in Duchenne dystrophy. A randomized, controlled trial defining the time course and dose response. Clinical Investigation of Duchenne Dystrophy Group.

Authors: R C Griggs; R T Moxley; J R Mendell; G M Fenichel; M H Brooke; A Pestronk; J P Miller
Journal: Arch Neurol Date: 1991-04

5. Unusual type of benign x-linked muscular dystrophy.

Authors: A E Emery; F E Dreifuss
Journal: J Neurol Neurosurg Psychiatry Date: 1966-08 Impact factor: 10.154

6. Analysis of deletions in DNA from patients with Becker and Duchenne muscular dystrophy.

Authors: L M Kunkel; J F Hejtmancik; C T Caskey; A Speer; A P Monaco; W Middlesworth; C A Colletti; C Bertelson; U Müller; M Bresnan; F Shapiro; U Tantravahi; J Speer; S A Latt; R Bartlett; M A Pericak-Vance; A D Roses; M W Thompson; P N Ray; R G Worton; K H Fischbeck; P Gallano; M Coulon; C Duros; J Boue; C Junien; J Chelly; G Hamard; M Jeanpierre; M Lambert; J C Kaplan; A Emery; H Dorkins; S McGlade; K E Davies; C Boehm; B Arveiler; C Lemaire; G J Morgan; M J Denton; J Amos; M Bobrow; F Benham; E Boswinkel; C Cole; V Dubowitz; K Hart; S Hodgson; L Johnson; A Walker; L Roncuzzi; A Ferlini; C Nobile; G Romeo; D E Wilcox; N A Affara; M A Ferguson-Smith; M Lindolf; H Kaariainen; A de la Chapelle; V Ionasescu; C Searby; R Ionasescu; E Bakker; G J van Ommen; P L Pearson; C R Greenberg; J L Hamerton; K Wrogemann; R A Doherty; R Polakowska; C Hyser; S Quirk; N Thomas; J F Harper; B T Darras; U Francke
Journal: Nature Date: 1986 Jul 3-9 Impact factor: 49.962

Muscular dystrophies.

1. Amelioration of the dystrophic phenotype of mdx mice using a truncated utrophin transgene.

Review 2. Advances in the molecular genetics of the limb-girdle type of autosomal recessive progressive muscular dystrophy.

3. 47th ENMC International Workshop: Treatment of Muscular Dystrophy. 13-15 December 1996, Naarden, The Netherlands.

4. Prednisone in Duchenne dystrophy. A randomized, controlled trial defining the time course and dose response. Clinical Investigation of Duchenne Dystrophy Group.

5. Unusual type of benign x-linked muscular dystrophy.

6. Analysis of deletions in DNA from patients with Becker and Duchenne muscular dystrophy.

7. Prevalence and incidence of Becker muscular dystrophy.

8. Myoblast implantation in Duchenne muscular dystrophy: the San Francisco study.

9. Emerin deficiency at the nuclear membrane in patients with Emery-Dreifuss muscular dystrophy.

10. Cognitive impairment in Duchenne muscular dystrophy.

1. Two children with muscular dystrophies ascertained due to referral for diagnosis of autism.