Literature DB >> 4854942

The manifesting carrier in Duchenne muscular dystrophy.

H Moser, A E Emery.   

Abstract

Entities:  

Mesh：

Substances：

Year:  1974        PMID： 4854942     DOI： 10.1111/j.1399-0004.1974.tb01694.x

Source DB:  PubMed          Journal:  Clin Genet        ISSN： 0009-9163            Impact factor:   4.438


× No keyword cloud information.
  37 in total

1.  Progressive myoclonus epilepsy. A variant with probable X-linked inheritance.

Authors:  T F Wienker; G M von Reutern; H H Ropers
Journal:  Hum Genet       Date:  1979-05-23       Impact factor: 4.132

Review 2.  Genetic and clinical correlations of Xp21 muscular dystrophy.

Authors:  K M Bushby
Journal:  J Inherit Metab Dis       Date:  1992       Impact factor: 4.982

3.  Adrenoleukodystrophy in a mother and son.

Authors:  R H Simpson; J Rodda; C J Reinecke
Journal:  J Neurol Neurosurg Psychiatry       Date:  1987-09       Impact factor: 10.154

4.  A manifesting carrier of Duchenne muscular dystrophy with severe myocardial symptoms.

Authors:  K Kamakura; M Kawai; K Arahata; H Koizumi; K Watanabe; H Sugita
Journal:  J Neurol       Date:  1990-12       Impact factor: 4.849

5.  On the incidence of unilateral and bilateral colour blindness in heterozygous females.

Authors:  K Feig; H H Ropers
Journal:  Hum Genet       Date:  1978-04-24       Impact factor: 4.132

6.  Dystrophin immunohistochemistry in a symptomatic carrier of Becker muscular dystrophy.

Authors:  K Haginoya; K Yamamoto; K Iinuma; T Yanagisawa; Y Ichinohasama; M Shimmoto; Y Suzuki; K Tada
Journal:  J Neurol       Date:  1991-10       Impact factor: 4.849

Review 7.  Duchenne muscular dystrophy: pathogenetic aspects and genetic prevention.

Authors:  H Moser
Journal:  Hum Genet       Date:  1984       Impact factor: 4.132

8.  Detection of new paternal dystrophin gene mutations in isolated cases of dystrophinopathy in females.

Authors:  E Pegoraro; R N Schimke; K Arahata; Y Hayashi; H Stern; H Marks; M R Glasberg; J E Carroll; J W Taber; H B Wessel
Journal:  Am J Hum Genet       Date:  1994-06       Impact factor: 11.025

9.  Becker-like muscular dystrophy in sisters.

Authors:  P Diószeghy; M Molnár; F Mechler
Journal:  Eur Arch Psychiatry Clin Neurosci       Date:  1995       Impact factor: 5.270

Review 10.  Determining the role of skewed X-chromosome inactivation in developing muscle symptoms in carriers of Duchenne muscular dystrophy.

Authors:  Emanuela Viggiano; Manuela Ergoli; Esther Picillo; Luisa Politano
Journal:  Hum Genet       Date:  2016-04-21       Impact factor: 4.132
View more

北京卡尤迪生物科技股份有限公司 © 2022-2023.