(Q24517937)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9321754%20AND%20SRC:MED&resulttype=core&format=json

6 November 2019

review article

1 reference

title

Nemaline myopathy: current concepts. The ENMC International Consortium and Nemaline Myopathy (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9321754%20AND%20SRC:MED&resulttype=core&format=json

6 November 2019

1 reference

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9321754%20AND%20SRC:MED&resulttype=core&format=json

6 November 2019

author name string

N G Laing

series ordinal

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9321754%20AND%20SRC:MED&resulttype=core&format=json

6 November 2019

C Wallgren-Pettersson

series ordinal

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9321754%20AND%20SRC:MED&resulttype=core&format=json

6 November 2019

language of work or name

English

0 references

publication date

1 September 1997

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9321754%20AND%20SRC:MED&resulttype=core&format=json

Journal of Medical Genetics

6 November 2019

published in

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9321754%20AND%20SRC:MED&resulttype=core&format=json

6 November 2019

volume

34

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9321754%20AND%20SRC:MED&resulttype=core&format=json

6 November 2019

issue

9

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9321754%20AND%20SRC:MED&resulttype=core&format=json

6 November 2019

page(s)

705-713

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9321754%20AND%20SRC:MED&resulttype=core&format=json

Assignment of the human alpha-tropomyosin gene TPM4 to band 19p13.1 by fluorescence in situ hybridization

6 November 2019

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051052

Alpha-tropomyosin and cardiac troponin T mutations cause familial hypertrophic cardiomyopathy: a disease of the sarcomere

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051052

Assignment of the human beta tropomyosin gene (TPM2) to band 9p13 by fluorescence in situ hybridisation

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051052

NEMALINE MYOPATHY. A NEW CONGENITAL MYOPATHY

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051052

Mutations in the genes for cardiac troponin T and alpha-tropomyosin in hypertrophic cardiomyopathy

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051052

A mutation in the alpha tropomyosin gene TPM3 associated with autosomal dominant nemaline myopathy

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051052

Assignment of the human skeletal muscle alpha-tropomyosin gene (TPM1) to band 15q22 by fluorescence in situ hybridization.

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051052

Genetics of congenital nemaline myopathy

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051052

Nemaline myopathy rod bodies. Structure and composition

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051052

Late-onset rod myopathy (a new syndrome?): light and electron microscopic observations in two cases

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051052

Pathology of congenital nemaline myopathy. A follow-up study

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051052

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

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051052

Nemaline myopathy: a report of two siblings as evidence of autosomal recessive inheritance of the infantile type

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051052

Genetics of congenital nemaline myopathy: a study of 10 families

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051052

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

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051052

Assignment of a gene (NEMI) for autosomal dominant nemaline myopathy to chromosome I

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051052

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051052

Abundant Nuclear Rods in Adult-Onset Rod Disease

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051052

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

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051052

A fatal congenital myopathy with severe type I fibre atrophy, central nuclei and multicores

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051052

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

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051052

Anaesthetic implications of nemaline rod myopathy.

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051052

Muscle fiber type transformation in nemaline myopathy and congenital fiber type disproportion.

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051052

Prolonged apnoea with severe arterial hypoxaemia resulting from complex partial seizures

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051052

Human immunodeficiency virus-associated myopathy: analysis of 11 patients

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051052

Neonatal nemaline myopathy presenting with multiple joint contractures

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051052

Night-time nasal ventilation in neuromuscular disease.

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051052

Respiratory muscle involvement in nemaline myopathy

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051052

Anaesthesia for cardiac surgery in children with nemaline myopathy.

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051052

Morphometric study of motoneurons in congenital nemaline myopathy and werdnig-Hoffmann disease

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051052

Tenotomy. Effect on the fine structure of the soleus of the rat.

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051052

Respiratory involvement in primary muscle disorders: assessment and management.

19 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051052

Adult onset nemaline myopathy: a distinct nosologic entity?

29 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051052

Anesthetic complications in a pregnant patient with nemaline myopathy.

29 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051052

Ultrasound imaging in the diagnosis of muscle disease.

29 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051052

Adult-onset rod disease with abundant intranuclear rods

29 November 2018

1 reference

12 December 2020

Normal cardiac contractility in patients with congenital nemaline myopathy

1 reference

12 December 2020

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

1 reference

12 December 2020

[Nemaline myopathy. A family suggestive of recessive inheritance (author's transl)]

1 reference

12 December 2020

Changes in motor innervation and histochemical pattern of muscle fibers in some congenital myopathies

1 reference

12 December 2020

Fibre Type Disproportion in the Rigid Spine Syndrome

1 reference

12 December 2020

Actin filaments form the backbone of nemaline myopathy rods

1 reference

12 December 2020

Investigations on the Inheritance of Nemaline Myopathy

1 reference

12 December 2020

Common origin of rods, cores, miniature cores, and focal loss of cross-striations

1 reference

12 December 2020

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

1 reference

12 December 2020

Muscle fiber-type disproportion. Report of a family with symptomatic and asymptomatic members

1 reference

12 December 2020

Fatal neonatal nemaline myopathy with multiple congenital anomalies

1 reference

12 December 2020

Immunofluorescence microscopy of a myopathy. alpha-Actinin is a major constituent of nemaline rods

1 reference

12 December 2020

Mixed nemaline-mitochondrial "myopathy"

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

Heterogeneity of nemaline myopathy. A follow-up study of 13 cases

1 reference

12 December 2020

Congenital nemaline myopathy with dilated cardiomyopathy: an autopsy study

1 reference

12 December 2020

[Clinical and pathological studies on two patients with adult-onset nemaline myopathy]

1 reference

12 December 2020

Nemaline myopathy associated with hypertrophic cardiomyopathy

1 reference

12 December 2020

HEREDITARY OCCURRENCE OF NEMALINE MYOPATHY

1 reference

12 December 2020

Nemaline myopathy. A histopathologic and histochemical study

1 reference

12 December 2020

Nemaline (Z Disk) Myopathy: Observations on the Origin, Structure, and Solubility Properties of the Nemaline Structures*†

1 reference

12 December 2020

A new concept of childhood nemaline myopathy

1 reference

12 December 2020

Experimental core-like lesions and nemaline rods. A correlative morphological and physiological study

1 reference

12 December 2020

Nemaline myopathy. A family study with three autopsied cases

1 reference

12 December 2020

Late onset myopathy with rod-like particles

1 reference

12 December 2020

Congenital rod disease. Further evidence of innervational abnormalities as the basis for the clinicopathologic features

1 reference

12 December 2020

Electromyography in benign congenital myopathies

1 reference

12 December 2020

Unusual course of nemaline myopathy

1 reference

12 December 2020

Intranuclear rods in severe congenital nemaline myopathy

1 reference

12 December 2020

Single-fiber electromyography in neuromuscular disorders: correlation of muscle histochemistry, single-fiber electromyography, and clinical findings

1 reference

12 December 2020

Late-onset rod myopathy associated with monoclonal gammopathy

1 reference

12 December 2020

Prolonged survival in neonatal nemaline rod myopathy

1 reference

12 December 2020

Two siblings with nemaline myopathy presenting with rigid spine syndrome

1 reference

12 December 2020

[A patient of late-onset nemaline myopathy with mononuclear cell infiltration]

1 reference

12 December 2020

Neonatal nemaline myopathy with abundant intranuclear rods

1 reference

12 December 2020

Alpha-actinin in nemaline bodies in congenital nemaline myopathy: immunological confirmation by light and electron microscopy

1 reference

12 December 2020

Nemaline myopathy: two autopsy reports

1 reference

12 December 2020

A gene for autosomal recessive nemaline myopathy assigned to chromosome 2q by linkage analysis

1 reference

12 December 2020

Guillain-Barré syndrome: a pediatric challenge

1 reference

12 December 2020

RAPID EXAMINATION OF MUSCLE TISSUE. AN IMPROVED TRICHROME METHOD FOR FRESH-FROZEN BIOPSY SECTIONS

1 reference

12 December 2020

CONGENITAL NONPROGRESSIVE MYOPATHY. CENTRAL CORE DISEASE AND NEMALINE MYOPATHY IN ONE FAMILY

1 reference

12 December 2020

Fatal neonatal nemaline myopathy

1 reference

12 December 2020

Myopathy with pathological features of both centronuclear myopathy and multicore disease

1 reference

12 December 2020

Congenital nemaline myopathy. I. Defective organization of ?-actinin is restricted to muscle

1 reference

12 December 2020

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

1 reference

12 December 2020

Plasma and muscle carnitine levels in haemodialysis patients with morphological-ultrastructural examination of muscle samples

1 reference

12 December 2020

Rod myopathy with extensive systemic and respiratory muscular involvement

1 reference

12 December 2020

Nemaline myopathy appearing in adults as cardiomyopathy. A clinicopathologic study

1 reference

12 December 2020

Fatal nemaline myopathy in infancy

1 reference

12 December 2020

Adult-onset mixed myopathy with nemaline rods, minicores, and central cores: a muscle disorder mimicking polymyositis

1 reference

12 December 2020

Nemaline myopathy with associated cardiomyopathy. Report of clinical and detailed autopsy findings

1 reference

12 December 2020

Cardiac involvement in congenital myopathy

1 reference

12 December 2020

Familial congestive cardiomyopathy with nemaline rods in heart and skeletal muscle

1 reference

12 December 2020

Nemaline cardiomyopathy

1 reference

12 December 2020

Survival from symptomatic nemaline myopathy in the newborn period

1 reference

12 December 2020

A case of nemaline myopathy with ophthalmoplegia and mitochondrial abnormalities

1 reference

Crossref

https://api.crossref.org/works/10.1136%2FJMG.34.9.705

7 January 2021

inferred from DOI database lookup

1 reference

https://api.crossref.org/works/10.1136%2FJMG.34.9.705

7 January 2021

inferred from DOI database lookup

Identifiers

DOI

10.1136/JMG.34.9.705

2 references

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9321754%20AND%20SRC:MED&resulttype=core&format=json

6 November 2019

1 reference

2 references

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9321754%20AND%20SRC:MED&resulttype=core&format=json

6 November 2019

PubMed publication ID

9321754

2 references