(Q34078132)

30 July 2017

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title

Diagnosis of pediatric neuromuscular disorders in the era of DNA analysis (English)

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nucleic acid sequence analysis

30 July 2017

main subject

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Darras BT

1

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30 July 2017

Jones HR

series ordinal

2

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30 July 2017

publication date

1 October 2000

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30 July 2017

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30 July 2017

volume

23

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30 July 2017

issue

4

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30 July 2017

page(s)

289-300

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Molecular basis of neuromuscular diseases

30 July 2017

cites work

1 reference

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7 January 2021

Linkage analysis of two cloned DNA sequences flanking the Duchenne muscular dystrophy locus on the short arm of the human X chromosome

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7 January 2021

Analysis of deletions in DNA from patients with Becker and Duchenne muscular dystrophy

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7 January 2021

Dystrophin: the protein product of the Duchenne muscular dystrophy locus

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7 January 2021

Prenatal diagnosis and detection of carriers with DNA probes in Duchenne's muscular dystrophy

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7 January 2021

Direct method for prenatal diagnosis and carrier detection in Duchenne/Becker muscular dystrophy using the entire dystrophin cDNA

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7 January 2021

Molecular genetics of Duchenne and Becker muscular dystrophy

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7 January 2021

An explanation for the phenotypic differences between patients bearing partial deletions of the DMD locus

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7 January 2021

Immunostaining of skeletal and cardiac muscle surface membrane with antibody against Duchenne muscular dystrophy peptide

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7 January 2021

Improved diagnosis of Becker muscular dystrophy by dystrophin testing

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7 January 2021

Mutations in the proteolytic enzyme calpain 3 cause limb-girdle muscular dystrophy type 2A

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7 January 2021

Dysferlin deletion in SJL mice (SJL-Dysf) defines a natural model for limb girdle muscular dystrophy 2B

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7 January 2021

Dysferlin is a surface membrane-associated protein that is absent in Miyoshi myopathy

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7 January 2021

Limb-girdle muscular dystrophy type 2G is caused by mutations in the gene encoding the sarcomeric protein telethonin

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7 January 2021

Mutations in the caveolin-3 gene cause autosomal dominant limb-girdle muscular dystrophy

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7 January 2021

Caveolin-3 in muscular dystrophy

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7 January 2021

Emery-dreifuss muscular dystrophy

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7 January 2021

Emery‐dreifuss humeroperoneal muscular dystorphy: An X‐linked myopathy with unusual contractures and bradycardia

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7 January 2021

Emery-Dreifuss muscular dystrophy: linkage to markers in distal Xq28.

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7 January 2021

Different mutations in the LMNA gene cause autosomal dominant and autosomal recessive Emery-Dreifuss muscular dystrophy.

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7 January 2021

Identification of a novel X-linked gene responsible for Emery-Dreifuss muscular dystrophy

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7 January 2021

Mutations in the gene encoding lamin A/C cause autosomal dominant Emery-Dreifuss muscular dystrophy

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7 January 2021

Inflammatory myopathy with facioscapulohumeral distribution

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7 January 2021

Facioscapulohumeral dystrophy associated with hearing loss and Coats syndrome.

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7 January 2021

Evaluation of the facioscapulohumeral muscular dystrophy (FSHD1) phenotype in correlation to the concurrence of 4q35 and 10q26 fragments

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7 January 2021

Genetics of facioscapulohumeral muscular dystrophy: new mutations in sporadic cases

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7 January 2021

Analysis of the tandem repeat locus D4Z4 associated with facioscapulohumeral muscular dystrophy

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7 January 2021

Facioscapulohumeral dystrophy: a distinct regional myopathy with a novel molecular pathogenesis. FSH Consortium

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7 January 2021

Progress in the molecular diagnosis of facioscapulohumeral muscular dystrophy and correlation between the number of KpnI repeats at the 4q35 locus and clinical phenotype.

1 reference

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7 January 2021

Inheritance of a 38-kb fragment in apparently sporadic facioscapulohumeral muscular dystrophy

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7 January 2021

Cloning of the essential myotonic dystrophy region and mapping of the putative defect

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7 January 2021

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

Unstable DNA sequence in myotonic dystrophy

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7 January 2021

Presymptomatic diagnosis of myotonic dystrophy

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7 January 2021

Instability versus predictability: the molecular diagnosis of myotonic dystrophy

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7 January 2021

Carrell-Krusen Symposium Invited Lecture-1997. Myotonic disorders in childhood: diagnosis and treatment

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7 January 2021

The exercise test in periodic paralysis

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7 January 2021

Congenital myopathy due to phosphorylase deficiency

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7 January 2021

Infantile phosphofructokinase deficiency with arthrogryposis: clinical benefit of a ketogenic diet

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7 January 2021

Metabolic myopathies: a clinical approach; part I.

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7 January 2021

Metabolic myopathies: a clinical approach; part II.

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7 January 2021

X linked neonatal centronuclear/myotubular myopathy: evidence for linkage to Xq28 DNA marker loci

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7 January 2021

A gene mutated in X-linked myotubular myopathy defines a new putative tyrosine phosphatase family conserved in yeast

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7 January 2021

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

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7 January 2021

Mutations in the skeletal muscle alpha-actin gene in patients with actin myopathy and nemaline myopathy

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7 January 2021

Mutations in the nebulin gene associated with autosomal recessive nemaline myopathy

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7 January 2021

Assignment of the gene for central core disease to chromosome 19

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7 January 2021

Mutations in the ryanodine receptor gene in central core disease and malignant hyperthermia

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7 January 2021

A mutation in the transmembrane/luminal domain of the ryanodine receptor is associated with abnormal Ca2+ release channel function and severe central core disease

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7 January 2021

Electromyography and biopsy correlation with suggested protocol for evaluation of the floppy infant

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7 January 2021

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

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7 January 2021

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

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7 January 2021

An ancient retrotransposal insertion causes Fukuyama-type congenital muscular dystrophy

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7 January 2021

EMG evaluation of the floppy infant: differential diagnosis and technical aspects

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7 January 2021

Identification and characterization of a spinal muscular atrophy-determining gene

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7 January 2021

From enigmatic to problematic: the new molecular genetics of childhood spinal muscular atrophy

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7 January 2021

Chronic inflammatory demyelinating polyneuropathy of infancy: a corticosteroid-responsive disorder

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7 January 2021

Guillain-Barré syndrome in children: clinical course, electrodiagnosis, and prognosis

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7 January 2021

Childhood Guillain-Barré syndrome: clinical presentation, diagnosis, and therapy

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7 January 2021

Epidemiological, clinical, and electrodiagnostic findings in childhood Guillain-Barré syndrome: a reappraisal

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7 January 2021

DNA duplication associated with Charcot-Marie-Tooth disease type 1A

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7 January 2021

Gene dosage is a mechanism for Charcot-Marie-Tooth disease type 1A

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7 January 2021

Charcot–Marie–Tooth neuropathy type 1B is associated with mutations of the myelin P0 gene

1 reference

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7 January 2021

Deletion of the serine 34 codon from the major peripheral myelin protein P0 gene in Charcot-Marie-Tooth disease type 1B

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7 January 2021

Connexin mutations in X-linked Charcot-Marie-Tooth disease

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7 January 2021

Mutations in the connexin 32 gene in X-linked dominant Charcot-Marie-Tooth disease (CMTX1)

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7 January 2021

Point mutations of the connexin32 (GJB1) gene in X-linked dominant Charcot — Marie — Tooth neuropathy

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7 January 2021

Charcot-Marie-Tooth neuropathies and related disorders

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7 January 2021

Dejerine-Sottas syndrome associated with point mutation in the peripheral myelin protein 22 (PMP22) gene

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https://api.crossref.org/works/10.1016%2FS0887-8994%2800%2900202-2

7 January 2021

De novo mutation of the myelin P0 gene in Dejerine-Sottas disease (hereditary motor and sensory neuropathy type III)

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7 January 2021

Eaton-Lambert Syndrome in a 9-Year-Old Girl

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7 January 2021

Eaton-lambert myasthenic syndrome: Long-term treatment of three patients with prednisone

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7 January 2021

10.1016/S0887-8994(00)00202-2

Identifiers

DOI

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30 July 2017

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