Muscle membrane-skeleton protein changes and histopathological characterization of muscle-eye-brain disease. (Q54076628)

24 May 2018

title

Muscle membrane-skeleton protein changes and histopathological characterization of muscle-eye-brain disease. (English)

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24 May 2018

author name string

Auranen M

1

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24 May 2018

Rapola J

2

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24 May 2018

Pihko H

3

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24 May 2018

Haltia M

4

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24 May 2018

Leivo I

5

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24 May 2018

Soinila S

6

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24 May 2018

Virtanen I

7

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24 May 2018

Kalimo H

8

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24 May 2018

Anderson LV

9

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24 May 2018

Santavuori P

10

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24 May 2018

Somer H

11

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24 May 2018

publication date

1 January 2000

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24 May 2018

published in

Neuromuscular Disorders

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24 May 2018

volume

10

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24 May 2018

issue

1

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24 May 2018

page(s)

16-23

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24 May 2018

Congenital muscular dystrophies: 1997 update

cites work

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2899%2900066-8

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%2900066-8

7 January 2021

Diagnostic criteria for Walker-Warburg syndrome

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2899%2900066-8

7 January 2021

Laminin alpha2 muscular dystrophy: genotype/phenotype studies of 22 patients.

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2899%2900066-8

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%2900066-8

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%2900066-8

7 January 2021

MRI of the brain in muscle-eye-brain (MEB) disease

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2899%2900066-8

7 January 2021

Abnormal localization of laminin subunits in muscular dystrophies

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2899%2900066-8

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%2900066-8

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%2900066-8

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%2900066-8

7 January 2021

A new nomenclature for the laminins

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2899%2900066-8

7 January 2021

https://api.crossref.org/works/10.1016%2FS0960-8966%2899%2900066-8

1 reference

7 January 2021

Merosin/laminin-2 and muscular dystrophy

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2899%2900066-8

7 January 2021

Dystroglycan: an extracellular matrix receptor linked to the cytoskeleton.

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2899%2900066-8

7 January 2021

The alpha7beta1 integrin mediates adhesion and migration of skeletal myoblasts on laminin

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2899%2900066-8

7 January 2021

Three muscular dystrophies: loss of cytoskeleton-extracellular matrix linkage.

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2899%2900066-8

7 January 2021

Dystrophin-associated proteins in muscular dystrophy

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2899%2900066-8

7 January 2021

Presence of Laminin 5 Chain and Lack of Laminin 1 Chain during Human Muscle Development and in Muscular Dystrophies

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2899%2900066-8

7 January 2021

Merosin, a protein specific for basement membranes of Schwann cells, striated muscle, and trophoblast, is expressed late in nerve and muscle development

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2899%2900066-8

7 January 2021

A laminin-like adhesive protein concentrated in the synaptic cleft of the neuromuscular junction

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2899%2900066-8

7 January 2021

Distribution and isolation of four laminin variants; tissue restricted distribution of heterotrimers assembled from five different subunits

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2899%2900066-8

7 January 2021

Missense mutations in the adhalin gene linked to autosomal recessive muscular dystrophy

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2899%2900066-8

7 January 2021

Beta-sarcoglycan (A3b) mutations cause autosomal recessive muscular dystrophy with loss of the sarcoglycan complex

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2899%2900066-8

7 January 2021

Autosomal recessive limb-girdle muscular dystrophy, LGMD2F, is caused by a mutation in the delta-sarcoglycan gene

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2899%2900066-8

7 January 2021

Dystrophin and the membrane skeleton

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2899%2900066-8

7 January 2021

Peritubular myoid cells of human and rat testis are smooth muscle cells that contain desmin-type intermediate filaments

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2899%2900066-8

7 January 2021

Late onset muscular dystrophy with cerebral white matter changes due to partial merosin deficiency.

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2899%2900066-8

7 January 2021

Cleavage of Structural Proteins during the Assembly of the Head of Bacteriophage T4

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2899%2900066-8

7 January 2021

Heterogeneity of dystrophin expression in patients with Duchenne and Becker muscular dystrophy

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2899%2900066-8

7 January 2021

Abscence of laminin alpha1 chain in the skeletal muscle of dystrophic dy/dy mice

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2899%2900066-8

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%2900066-8

7 January 2021

Muscle involvement in Walker-Warburg syndrome. Clinicopathologic features of four cases

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2899%2900066-8

7 January 2021

Variable clinical phenotype in merosin-deficient congenital muscular dystrophy associated with differential immunolabelling of two fragments of the laminin alpha 2 chain.

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2899%2900066-8

7 January 2021

Human laminin M chain (merosin): complete primary structure, chromosomal assignment, and expression of the M and A chain in human fetal tissues

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2899%2900066-8

7 January 2021

10.1016/S0960-8966(99)00066-8

Identifiers

DOI

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24 May 2018

PubMed ID

10677859

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24 May 2018