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English
Neuromuscular disorders in the newborn
scientific article published on 01 December 1997
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scholarly article
1 reference
stated in
Europe PubMed Central
PubMed publication ID
9395865
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9395865%20AND%20SRC:MED&resulttype=core&format=json
retrieved
7 November 2019
review article
1 reference
stated in
Europe PubMed Central
title
Neuromuscular disorders in the newborn
(English)
1 reference
stated in
Europe PubMed Central
PubMed publication ID
9395865
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9395865%20AND%20SRC:MED&resulttype=core&format=json
retrieved
7 November 2019
author name string
B T Darras
series ordinal
1
1 reference
stated in
Europe PubMed Central
PubMed publication ID
9395865
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9395865%20AND%20SRC:MED&resulttype=core&format=json
retrieved
7 November 2019
publication date
1 December 1997
1 reference
stated in
Europe PubMed Central
PubMed publication ID
9395865
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9395865%20AND%20SRC:MED&resulttype=core&format=json
retrieved
7 November 2019
published in
Clinics in Perinatology
1 reference
stated in
Europe PubMed Central
PubMed publication ID
9395865
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9395865%20AND%20SRC:MED&resulttype=core&format=json
retrieved
7 November 2019
volume
24
1 reference
stated in
Europe PubMed Central
PubMed publication ID
9395865
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9395865%20AND%20SRC:MED&resulttype=core&format=json
retrieved
7 November 2019
issue
4
1 reference
stated in
Europe PubMed Central
PubMed publication ID
9395865
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9395865%20AND%20SRC:MED&resulttype=core&format=json
retrieved
7 November 2019
page(s)
827-844
1 reference
stated in
Europe PubMed Central
PubMed publication ID
9395865
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9395865%20AND%20SRC:MED&resulttype=core&format=json
retrieved
7 November 2019
cites work
Cloning of the essential myotonic dystrophy region and mapping of the putative defect
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Fatal infantile cytochrome c oxidase deficiency: decrease of immunologically detectable enzyme in muscle
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7 January 2021
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Molecular basis of myotonic dystrophy: expansion of a trinucleotide (CTG) repeat at the 3' end of a transcript encoding a protein kinase family member.
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7 January 2021
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Presymptomatic diagnosis of myotonic dystrophy
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7 January 2021
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Pompe's disease presenting as hypertrophic myocardiopathy with Wolff-Parkinson-White syndrome
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7 January 2021
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Infantile muscular atrophy
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reference URL
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7 January 2021
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Central core disease. Study of a family with five affected generations
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7 January 2021
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Clinical electrophysiology of infantile botulism
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7 January 2021
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Central-core disease and malignant hyperpyrexia
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7 January 2021
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Fatal infantile form of muscle phosphorylase deficiency
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Crossref
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7 January 2021
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Diagnostic criteria for Walker-Warburg syndrome
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7 January 2021
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Lissencephaly and other malformations of cortical development: 1995 update
1 reference
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reference URL
https://api.crossref.org/works/10.1016%2FS0095-5108%2818%2930152-0
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7 January 2021
based on heuristic
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41st ENMC International Workshop on Congenital Muscular Dystrophy 8-10 March 1996, Naarden, The Netherlands
1 reference
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Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0095-5108%2818%2930152-0
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7 January 2021
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Central core disease-an investigation of a rare muscle cell abnormality.
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Crossref
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https://api.crossref.org/works/10.1016%2FS0095-5108%2818%2930152-0
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7 January 2021
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Congenital progressive muscular dystrophy of the Fukuyama type - clinical, genetic and pathological considerations
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Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0095-5108%2818%2930152-0
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7 January 2021
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Pathophysiologic aspects of human botulism
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Crossref
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https://api.crossref.org/works/10.1016%2FS0095-5108%2818%2930152-0
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7 January 2021
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Assignment of the gene for central core disease to chromosome 19
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Crossref
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https://api.crossref.org/works/10.1016%2FS0095-5108%2818%2930152-0
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7 January 2021
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Molecular analysis of candidate genes on chromosome 5q13 in autosomal recessive spinal muscular atrophy: evidence of homozygous deletions of the SMN gene in unaffected individuals
1 reference
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7 January 2021
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Muscle-eye-brain disease: a neuropathological study
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7 January 2021
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Unstable DNA sequence in myotonic dystrophy
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Crossref
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7 January 2021
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Mutations in the laminin alpha 2-chain gene (LAMA2) cause merosin-deficient congenital muscular dystrophy
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Crossref
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7 January 2021
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Congenital nemaline myopathy with dilated cardiomyopathy: an autopsy study
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7 January 2021
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Myotubular myopathy
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Crossref
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7 January 2021
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Congenital muscular dystrophy: Clinical and pathologic study of 50 patients with the classical (Occidental) merosin-positive form
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Crossref
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7 January 2021
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A mutation in the alpha tropomyosin gene TPM3 associated with autosomal dominant nemaline myopathy
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Crossref
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7 January 2021
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A gene mutated in X-linked myotubular myopathy defines a new putative tyrosine phosphatase family conserved in yeast
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Crossref
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7 January 2021
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Identification and characterization of a spinal muscular atrophy-determining gene
1 reference
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Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0095-5108%2818%2930152-0
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7 January 2021
based on heuristic
inferred from DOI database lookup
Fatal infantile muscle phosphorylase deficiency
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0095-5108%2818%2930152-0
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Nemaline myopathy in the neonate
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0095-5108%2818%2930152-0
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7 January 2021
based on heuristic
inferred from DOI database lookup
Clinical phenotype in congenital muscular dystrophy: correlation with expression of merosin in skeletal
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0095-5108%2818%2930152-0
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7 January 2021
based on heuristic
inferred from DOI database lookup
Cytochrome-C-oxidase deficiency in muscles of a floppy infant without mitochondrial myopathy
1 reference
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Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0095-5108%2818%2930152-0
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7 January 2021
based on heuristic
inferred from DOI database lookup
The gene for neuronal apoptosis inhibitory protein is partially deleted in individuals with spinal muscular atrophy
1 reference
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Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0095-5108%2818%2930152-0
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7 January 2021
based on heuristic
inferred from DOI database lookup
Deficiency of acid alpha glucosidase in the urine of patients with Pompe's disease.
1 reference
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Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0095-5108%2818%2930152-0
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7 January 2021
based on heuristic
inferred from DOI database lookup
Familial nemaline myopathy
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0095-5108%2818%2930152-0
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Fatal infantile form of muscle phosphofructokinase deficiency
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0095-5108%2818%2930152-0
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Nemaline myopathy: report of a fatal case, with histochemical and electron microscopic studies.
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0095-5108%2818%2930152-0
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Demyelinating peripheral neuropathy in merosin-deficient congenital muscular dystrophy
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0095-5108%2818%2930152-0
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
NEMALINE MYOPATHY. A NEW CONGENITAL MYOPATHY
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0095-5108%2818%2930152-0
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
A new congenital non-progressive myopathy
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0095-5108%2818%2930152-0
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Myotubular Myopathy
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0095-5108%2818%2930152-0
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Instability versus predictability: the molecular diagnosis of myotonic dystrophy
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0095-5108%2818%2930152-0
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
X linked neonatal centronuclear/myotubular myopathy: evidence for linkage to Xq28 DNA marker loci
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0095-5108%2818%2930152-0
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Localization of a gene for Fukuyama type congenital muscular dystrophy to chromosome 9q31-33
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0095-5108%2818%2930152-0
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Differential diagnosis of fatal and benign cytochrome c oxidase-deficient myopathies of infancy: an immunohistochemical approach
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0095-5108%2818%2930152-0
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Alpha-actinin and myosin light chains in congenital nemaline myopathy
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0095-5108%2818%2930152-0
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Clinical spectrum and genetic studies of Fukuyama congenital muscular dystrophy.
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0095-5108%2818%2930152-0
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Benign reversible muscle cytochrome c oxidase deficiency: a second case
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0095-5108%2818%2930152-0
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
A mutation in the human ryanodine receptor gene associated with central core disease
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0095-5108%2818%2930152-0
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Identifiers
DOI
10.1016/S0095-5108(18)30152-0
1 reference
stated in
Europe PubMed Central
PubMed publication ID
9395865
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9395865%20AND%20SRC:MED&resulttype=core&format=json
retrieved
7 November 2019
PubMed publication ID
9395865
1 reference
stated in
Europe PubMed Central
PubMed publication ID
9395865
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9395865%20AND%20SRC:MED&resulttype=core&format=json
retrieved
7 November 2019
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