The Fukuyama congenital muscular dystrophy story (Q28139770)

Fukuyama congenital muscular dystrophy

Europe PubMed Central

title

The Fukuyama congenital muscular dystrophy story (English)

0 references

main subject

0 references

author name string

T Toda

1

0 references

K Kobayashi

2

0 references

E Kondo-Iida

3

0 references

J Sasaki

4

0 references

Y Nakamura

Mutations in the laminin alpha 2-chain gene (LAMA2) cause merosin-deficient congenital muscular dystrophy

5

0 references

language of work or name

English

0 references

publication date

March 2000

0 references

published in

Neuromuscular Disorders

0 references

volume

10

0 references

issue

3

0 references

page(s)

153-9

0 references

cites work

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2899%2900109-1

7 January 2021

Identification of a new locus for a peculiar form of congenital muscular dystrophy with early rigidity of the spine, on chromosome 1p35-36.

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2899%2900109-1

7 January 2021

Congenital progressive muscular dystrophy of the Fukuyama type - clinical, genetic and pathological considerations

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2899%2900109-1

7 January 2021

An ancient retrotransposal insertion causes Fukuyama-type congenital muscular dystrophy

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2899%2900109-1

7 January 2021

A genetic study of the Fukuyama type congenital muscular dystrophy

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2899%2900109-1

7 January 2021

Survey of Duchenne type and congenital type of muscular dystrophy in Shimane, Japan

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2899%2900109-1

7 January 2021

Ocular findings in Fukuyama type congenital muscular dystrophy

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2899%2900109-1

7 January 2021

Clinical spectrum and genetic studies of Fukuyama congenital muscular dystrophy

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2899%2900109-1

7 January 2021

Muscle histochemistry in congenital muscular dystrophy with central nervous system involvement

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2899%2900109-1

7 January 2021

Congenital muscular dystrophy as a disease of the central nervous system

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2899%2900109-1

7 January 2021

Cortical dysplasia in congenital muscular dystrophy with central nervous system involvement (Fukuyama type).

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2899%2900109-1

7 January 2021

Analysis of a human DNA excision repair gene involved in group A xeroderma pigmentosum and containing a zinc-finger domain

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2899%2900109-1

7 January 2021

Homozygosity mapping: a way to map human recessive traits with the DNA of inbred children

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2899%2900109-1

7 January 2021

Localization of a gene for Fukuyama type congenital muscular dystrophy to chromosome 9q31-33

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2899%2900109-1

7 January 2021

Prenatal diagnosis of Fukuyama type congenital muscular dystrophy by polymorphism analysis

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2899%2900109-1

7 January 2021

Prenatal diagnosis of Fukuyama-type congenital muscular dystrophy by microsatellite analysis

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2899%2900109-1

7 January 2021

YAC and cosmid contigs encompassing the Fukuyama-type congenital muscular dystrophy (FCMD) candidate region on 9q31.

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2899%2900109-1

7 January 2021

The diastrophic dysplasia gene encodes a novel sulfate transporter: positional cloning by fine-structure linkage disequilibrium mapping

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2899%2900109-1

7 January 2021

Localization of the EPM1 gene for progressive myoclonus epilepsy on chromosome 21: linkage disequilibrium allows high resolution mapping

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2899%2900109-1

7 January 2021

Founder-haplotype analysis in Fukuyama-type congenital muscular dystrophy (FCMD).

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2899%2900109-1

7 January 2021

Haemophilia A resulting from de novo insertion of L1 sequences represents a novel mechanism for mutation in man.

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2899%2900109-1

7 January 2021

A de novo Alu insertion results in neurofibromatosis type 1

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2899%2900109-1

7 January 2021

Mutation analysis in the BRCA2 gene in primary breast cancers

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2899%2900109-1

7 January 2021

Abnormal expression of dystrophin-associated proteins in Fukuyama-type congenital muscular dystrophy

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2899%2900109-1

7 January 2021

Abnormal localization of laminin subunits in muscular dystrophies

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2899%2900109-1

7 January 2021

Electron microscopic examination of basal lamina in Fukuyama congenital muscular dystrophy

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2899%2900109-1

7 January 2021

Are breaches in the glia limitans the primary cause of the micropolygyria in Fukuyama-type congenital muscular dystrophy (FCMD)? Pathological study of the cerebral cortex of an FCMD fetus

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2899%2900109-1

7 January 2021

Pial-glial barrier abnormalities in fetuses with Fukuyama congenital muscular dystrophy

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2899%2900109-1

7 January 2021

Breached cerebral glia limitans-basal lamina complex in Fukuyama-type congenital muscular dystrophy

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2899%2900109-1

7 January 2021

Immature astrocytes in Fukuyama congenital muscular dystrophy: an immunohistochemical study

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2899%2900109-1

7 January 2021

Yayoi era mutation disrupts brain and muscle

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2899%2900109-1

7 January 2021

Congenital muscular dystrophy and cerebral dysgenesis in a Dutch family

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2899%2900109-1

7 January 2021

Fukuyama type congenital muscular dystrophy--two Dutch siblings

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2899%2900109-1

7 January 2021

Genetic heterogeneity in three Chinese children with Fukuyama congenital muscular dystrophy

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2899%2900109-1

7 January 2021

Novel mutations and genotype-phenotype relationships in 107 families with Fukuyama-type congenital muscular dystrophy (FCMD).

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2899%2900109-1

7 January 2021

Syndromes with lissencephaly. II: Walker-Warburg and cerebro-oculo-muscular syndromes and a new syndrome with type II lissencephaly

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2899%2900109-1

7 January 2021

Diagnostic criteria for Walker-Warburg syndrome

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2899%2900109-1

7 January 2021

Molecular genetic evidence of clinical heterogeneity in Fukuyama-type congenital muscular dystrophy

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2899%2900109-1

7 January 2021

Genetic identity of Fukuyama-type congenital muscular dystrophy and Walker-Warburg syndrome

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2899%2900109-1

7 January 2021

Assignment of the muscle-eye-brain disease gene to 1p32-p34 by linkage analysis and homozygosity mapping

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2899%2900109-1

7 January 2021

Preserved merosin M-chain (or laminin-alpha 2) expression in skeletal muscle distinguishes Walker-Warburg syndrome from Fukuyama muscular dystrophy and merosin-deficient congenital muscular dystrophy

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2899%2900109-1

7 January 2021

Laminin 2 chain and adhalin deficiency in the skeletal muscle of Walker-Warburg syndrome (cerebroocular dysplasia-muscular dystrophy)

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2899%2900109-1

7 January 2021

Muscle-eye-brain disease: a neuropathological study

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2899%2900109-1

7 January 2021

10.1016/S0960-8966(99)00109-1

Identifiers

DOI

1 reference

Consolidated OpenCitations Corpus – April 2017

1 reference

Consolidated OpenCitations Corpus – April 2017

PubMed publication ID

10734260

1 reference

Consolidated OpenCitations Corpus – April 2017