Literature DB >> 8609501

Investigation of muscle disease.

F L Mastaglia1, N G Laing.   

Abstract

Entities:  

Mesh：

Substances：

Year:  1996        PMID： 8609501      PMCID： PMC1073847          DOI： 10.1136/jnnp.60.3.256

Source DB:  PubMed          Journal:  J Neurol Neurosurg Psychiatry        ISSN： 0022-3050            Impact factor:   10.154


× No keyword cloud information.
  153 in total

1.  Assignment of the gene for central core disease to chromosome 19.

Authors:  E A Haan; C J Freemantle; J A McCure; K L Friend; J C Mulley
Journal:  Hum Genet       Date:  1990-12       Impact factor: 4.132

Review 2.  Mitochondrial DNA abnormalities in human disease.

Authors:  E Byrne
Journal:  Med J Aust       Date:  1991-05-20       Impact factor: 7.738

3.  Effect of dystrophin gene deletions on mRNA levels and processing in Duchenne and Becker muscular dystrophies.

Authors:  J Chelly; H Gilgenkrantz; M Lambert; G Hamard; P Chafey; D Récan; P Katz; A de la Chapelle; M Koenig; I B Ginjaar
Journal:  Cell       Date:  1990-12-21       Impact factor: 41.582

4.  Quadriceps myopathy: forme fruste of Becker muscular dystrophy.

Authors:  N Sunohara; K Arahata; E P Hoffman; H Yamada; J Nishimiya; E Arikawa; M Kaido; I Nonaka; H Sugita
Journal:  Ann Neurol       Date:  1990-11       Impact factor: 10.422

5.  Evidence for linkage of the central core disease locus to the proximal long arm of human chromosome 19.

Authors:  K Kausch; F Lehmann-Horn; M Janka; B Wieringa; T Grimm; C R Müller
Journal:  Genomics       Date:  1991-07       Impact factor: 5.736

6.  Confirmation of genetic heterogeneity in limb-girdle muscular dystrophy: linkage of an autosomal dominant form to chromosome 5q.

Authors:  M C Speer; L H Yamaoka; J H Gilchrist; C P Gaskell; J M Stajich; J M Vance; A Kazantsev; A A Lastra; C S Haynes; J S Beckmann
Journal:  Am J Hum Genet       Date:  1992-06       Impact factor: 11.025

7.  Differentiation of Becker muscular dystrophy from limb-girdle muscular dystrophy and Kugelberg-Welander disease using a cDNA probe.

Authors:  N G Laing; M E Mears; H E Thomas; D C Chandler; M G Layton; J Goldblatt; B A Kakulas
Journal:  Med J Aust       Date:  1990-03-05       Impact factor: 7.738

8.  A gene for limb-girdle muscular dystrophy maps to chromosome 15 by linkage.

Authors:  J S Beckmann; I Richard; D Hillaire; O Broux; C Antignac; E Bois; H Cann; R W Cottingham; N Feingold; J Feingold
Journal:  C R Acad Sci III       Date:  1991

9.  Paramyotonia congenita and hyperkalemic periodic paralysis map to the same sodium-channel gene locus.

Authors:  L J Ptacek; J S Trimmer; W S Agnew; J W Roberts; J H Petajan; M Leppert
Journal:  Am J Hum Genet       Date:  1991-10       Impact factor: 11.025

10.  Three years' experience with neonatal screening for Duchenne/Becker muscular dystrophy: gene analysis, gene expression, and phenotype prediction.

Authors:  C R Greenberg; H K Jacobs; W Halliday; K Wrogemann
Journal:  Am J Med Genet       Date:  1991-04-01
View more
  1 in total

1.  A novel MYH7 mutation occurring independently in French and Norwegian Laing distal myopathy families and de novo in one Finnish patient.

Authors:  Odile Dubourg; Thierry Maisonobe; Anthony Behin; Tiina Suominen; Olayinka Raheem; Sini Penttilä; Matt Parton; Bruno Eymard; Arve Dahl; Bjarne Udd
Journal:  J Neurol       Date:  2011-01-30       Impact factor: 4.849
  1 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.