Genetics of congenital nemaline myopathy: a study of 10 families (Q33598041)

28 July 2017

title

Genetics of congenital nemaline myopathy: a study of 10 families (English)

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28 July 2017

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Wallgren-Pettersson C

1

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28 July 2017

Kääriäinen H

2

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28 July 2017

Rapola J

3

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28 July 2017

Salmi T

4

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28 July 2017

Jääskeläinen J

5

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28 July 2017

Donner M

6

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28 July 2017

language of work or name

English

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publication date

1 August 1990

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Journal of Medical Genetics

28 July 2017

published in

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28 July 2017

volume

27

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28 July 2017

issue

8

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28 July 2017

page(s)

480-487

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NEMALINE MYOPATHY. A NEW CONGENITAL MYOPATHY

28 July 2017

cites work

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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1017195

LIGHT AND ELECTRON MICROSCOPIC STUDIES OF "MYOGRANULES" IN A CHILD WITH HYPOTONIA AND MUSCLE WEAKNESS

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1017195

Genetics of congenital nemaline myopathy

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1017195

Variability of histochemical and morphometric data from needle biopsy specimens of human quadriceps femoris muscle

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1017195

Nemaline myopathy. A long-term clinicopathologic study of affected mother and daughter

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1017195

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

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1017195

Nemaline myopathy. Report of four cases and review of the literature

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1017195

A comparison of fibre size, fibre type constitution and spatial fibre type distribution in normal human muscle and in muscle from cases of spinal muscular atrophy and from other neuromuscular disorders

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1017195

Pathology of congenital nemaline myopathy. A follow-up study

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1017195

Childhood nemaline myopathy: a review of clinical presentation in relation to prognosis

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1017195

Electromyography in congenital nemaline myopathy

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1017195

Ultrasonography, CT, and MRI of muscles in congenital nemaline myopathy

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1017195

High resolution two-dimensional electrophoresis of proteins

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1017195

Congenital nemaline myopathy: two patients with consanguineous parents, one with a progressive course

21 June 2018

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12 December 2020

The needle biopsy technique for fibre type determination in human skeletal muscle-a methodological study

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12 December 2020

Quantitative analysis of quadriceps muscle biopsy. Results in 30 healthy females

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12 December 2020

Congenital nemaline myopathy. A clinical follow-up of twelve patients

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12 December 2020

Nemaline myopathy: comparative muscle histochemistry in the severe neonatal, moderate congenital, and adult-onset forms

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12 December 2020

HEREDITARY OCCURRENCE OF NEMALINE MYOPATHY

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12 December 2020

The histographic analysis of human muscle biopsies with regard to fiber types: I. Adult male and female

1 reference

12 December 2020

Nemaline (rod) myopathy: the need for histochemical evaluation of affected families

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12 December 2020

Needle muscle biopsy for carrier detection in Duchenne muscular dystrophy. Part 1. Light microscopy--histology, histochemistry and quantitation

1 reference

12 December 2020

Fast to slow change of myosin in nemaline myopathy: electrophoretic and immunologic evidence

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12 December 2020

Congenital nemaline myopathy. II. Quantitative changes in ?-actinin and myosin in skeletal muscle

1 reference

12 December 2020

Identifiers

DOI

10.1136/JMG.27.8.480

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28 July 2017

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28 July 2017

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