(Q37999075)

26 August 2017

Genetics of neuromuscular disorders (English)

1 reference

26 August 2017

Nigel G Laing

1

1 reference

ORCID Public Data File 2021

publication date

1 March 2012

1 reference

Critical Reviews in Clinical Laboratory Sciences

26 August 2017

1 reference

26 August 2017

49

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26 August 2017

2

1 reference

26 August 2017

33-48

1 reference

Fetal akinesia: review of the genetics of the neuromuscular causes

26 August 2017

1 reference

https://api.crossref.org/works/10.3109%2F10408363.2012.658906

SLCO1B1 variants and statin-induced myopathy--a genomewide study

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F10408363.2012.658906

Hyaline inclusion myopathy: unmasked by statin therapy

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F10408363.2012.658906

117th ENMC workshop: ventilatory support in congenital neuromuscular disorders -- congenital myopathies, congenital muscular dystrophies, congenital myotonic dystrophy and SMA (II) 4-6 April 2003, Naarden, The Netherlands

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F10408363.2012.658906

Standards of care for Duchenne muscular dystrophy: brief TREAT-NMD recommendations

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F10408363.2012.658906

Muscle imaging in clinical practice: diagnostic value of muscle magnetic resonance imaging in inherited neuromuscular disorders

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F10408363.2012.658906

Distinct muscle imaging patterns in myofibrillar myopathies.

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F10408363.2012.658906

Duchenne muscular dystrophy. Genetic aspects, carrier detection and antenatal diagnosis

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F10408363.2012.658906

The rate of spontaneous mutation of a human gene

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F10408363.2012.658906

Complete cloning of the duchenne muscular dystrophy (DMD) cDNA and preliminary genomic organization of the DMD gene in normal and affected individuals

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F10408363.2012.658906

Detection of deletions spanning the Duchenne muscular dystrophy locus using a tightly linked DNA segment

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F10408363.2012.658906

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

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F10408363.2012.658906

Detection of 98% of DMD/BMD gene deletions by polymerase chain reaction

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F10408363.2012.658906

Absent pituitary gland in two brothers with an oral-facial-digital syndrome resembling OFDS II and VI: a new type of OFDS?

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F10408363.2012.658906

Rapid direct sequence analysis of the dystrophin gene

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F10408363.2012.658906

Androgen receptor gene mutations in X-linked spinal and bulbar muscular atrophy

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F10408363.2012.658906

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

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F10408363.2012.658906

Molecular basis of myotonic dystrophy: expansion of a trinucleotide (CTG) repeat at the 3' end of a transcript encoding a protein kinase family member.

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F10408363.2012.658906

Correlation between CTG trinucleotide repeat length and frequency of severe congenital myotonic dystrophy

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F10408363.2012.658906

Identification and characterization of a spinal muscular atrophy-determining gene

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F10408363.2012.658906

Genomic variation and gene conversion in spinal muscular atrophy: implications for disease process and clinical phenotype

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F10408363.2012.658906

Paternal origin of new mutations in von Recklinghausen neurofibromatosis.

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F10408363.2012.658906

Genetic spectrum of hereditary neuropathies with onset in the first year of life

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F10408363.2012.658906

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

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F10408363.2012.658906

Mutations and polymorphisms of the skeletal muscle alpha-actin gene (ACTA1).

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F10408363.2012.658906

40th ENMC Sponsored International Workshop: Nemaline Myopathy. 2-4 February 1996, Naarden, The Netherlands

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F10408363.2012.658906

Mutations in the slow skeletal muscle fiber myosin heavy chain gene (MYH7) cause laing early-onset distal myopathy (MPD1).

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F10408363.2012.658906

A consortium approach to molecular genetic services. Scottish Molecular Genetics Consortium

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F10408363.2012.658906

Charcot-Marie-Tooth disease subtypes and genetic testing strategies

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F10408363.2012.658906

Hypertrophic cardiomyopathy: distribution of disease genes, spectrum of mutations, and implications for a molecular diagnosis strategy

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F10408363.2012.658906

Myosin storage myopathy associated with a heterozygous missense mutation in MYH7

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F10408363.2012.658906

MYH7 gene tail mutation causing myopathic profiles beyond Laing distal myopathy

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F10408363.2012.658906

A novel MYH7 mutation links congenital fiber type disproportion and myosin storage myopathy

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F10408363.2012.658906

A mutation in the human ryanodine receptor gene associated with central core disease

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F10408363.2012.658906

An autosomal dominant congenital myopathy with cores and rods is associated with a neomutation in the RYR1 gene encoding the skeletal muscle ryanodine receptor

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F10408363.2012.658906

The spectrum of pathology in central core disease

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F10408363.2012.658906

A recessive form of central core disease, transiently presenting as multi-minicore disease, is associated with a homozygous mutation in the ryanodine receptor type 1 gene

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F10408363.2012.658906

Autosomal recessive inheritance of RYR1 mutations in a congenital myopathy with cores.

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F10408363.2012.658906

Malignant hyperthermia associated with exercise-induced rhabdomyolysis or congenital abnormalities and a novel RYR1 mutation in New Zealand and Australian pedigrees.

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F10408363.2012.658906

Minicore myopathy with ophthalmoplegia caused by mutations in the ryanodine receptor type 1 gene

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F10408363.2012.658906

Recessive mutations in RYR1 are a common cause of congenital fiber type disproportion

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F10408363.2012.658906

Phenotypic variability associated with Arg26Gln mutation in caveolin3.

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F10408363.2012.658906

Tibial muscular dystrophy is a titinopathy caused by mutations in TTN, the gene encoding the giant skeletal-muscle protein titin

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F10408363.2012.658906

Structural analysis of the titin gene in hypertrophic cardiomyopathy: identification of a novel disease gene

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F10408363.2012.658906

Mutations of TTN, encoding the giant muscle filament titin, cause familial dilated cardiomyopathy.

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F10408363.2012.658906

The kinase domain of titin controls muscle gene expression and protein turnover

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F10408363.2012.658906

C-terminal titin deletions cause a novel early-onset myopathy with fatal cardiomyopathy.

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F10408363.2012.658906

Complete genomic structure of the human nebulin gene and identification of alternatively spliced transcripts.

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F10408363.2012.658906

Mutations in the nebulin gene associated with autosomal recessive nemaline myopathy

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F10408363.2012.658906

Mutations in RYR1 in malignant hyperthermia and central core disease

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F10408363.2012.658906

Principal mutation hotspot for central core disease and related myopathies in the C-terminal transmembrane region of the RYR1 gene.

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F10408363.2012.658906

Central core disease is due to RYR1 mutations in more than 90% of patients.

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F10408363.2012.658906

A map of human genome variation from population-scale sequencing

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F10408363.2012.658906

Dominant-negative effects of a novel mutation in the filamin myopathy

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F10408363.2012.658906

DNA sequencing errors in molecular diagnostics of filamin myopathy

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F10408363.2012.658906

Prediction of deleterious human alleles

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F10408363.2012.658906

SIFT: Predicting amino acid changes that affect protein function

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F10408363.2012.658906

Amino acid difference formula to help explain protein evolution

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F10408363.2012.658906

Molecular characterization of a de novo 6q24.2q25.3 duplication interrupting UTRN in a patient with arthrogryposis.

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F10408363.2012.658906

Detection of exonic copy-number changes using a highly efficient oligonucleotide-based comparative genomic hybridization-array method.

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F10408363.2012.658906

Relative quantification of 40 nucleic acid sequences by multiplex ligation-dependent probe amplification

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F10408363.2012.658906

A general method for the detection of large CAG repeat expansions by fluorescent PCR

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F10408363.2012.658906

Repeat-primed polymerase chain reaction in myotonic dystrophy type 2 testing.

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F10408363.2012.658906

Validation of sensitivity and specificity of tetraplet-primed PCR (TP-PCR) in the molecular diagnosis of myotonic dystrophy type 2 (DM2).

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F10408363.2012.658906

Expanded GGGGCC hexanucleotide repeat in noncoding region of C9ORF72 causes chromosome 9p-linked FTD and ALS

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F10408363.2012.658906

A hexanucleotide repeat expansion in C9ORF72 is the cause of chromosome 9p21-linked ALS-FTD

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F10408363.2012.658906

A systematic approach to mapping recessive disease genes in individuals from outbred populations

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F10408363.2012.658906

Rapid and sensitive detection of point mutations and DNA polymorphisms using the polymerase chain reaction

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F10408363.2012.658906

Contractions of D4Z4 on 4qB subtelomeres do not cause facioscapulohumeral muscular dystrophy.

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F10408363.2012.658906

Sequencing technologies - the next generation

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F10408363.2012.658906

Unexpected allelic heterogeneity and spectrum of mutations in Fowler syndrome revealed by next-generation exome sequencing

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F10408363.2012.658906

Performance comparison of exome DNA sequencing technologies

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F10408363.2012.658906

Exome sequencing reveals VCP mutations as a cause of familial ALS

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F10408363.2012.658906

Exome sequencing identifies the cause of a mendelian disorder

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F10408363.2012.658906

Exome sequencing identifies a DYNC1H1 mutation in a large pedigree with dominant axonal Charcot-Marie-Tooth disease

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F10408363.2012.658906

Whole-genome sequencing in a patient with Charcot-Marie-Tooth neuropathy

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F10408363.2012.658906

Nemaline myopathy with minicores caused by mutation of the CFL2 gene encoding the skeletal muscle actin-binding protein, cofilin-2

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F10408363.2012.658906

Exome sequencing allows for rapid gene identification in a Charcot-Marie-Tooth family

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F10408363.2012.658906

Massively parallel sequencing of ataxia genes after array-based enrichment

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F10408363.2012.658906

Detection of inherited mutations for breast and ovarian cancer using genomic capture and massively parallel sequencing

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F10408363.2012.658906

Molecular diagnosis for heterogeneous genetic diseases with targeted high-throughput DNA sequencing applied to retinitis pigmentosa.

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F10408363.2012.658906

Targeted capture and massively parallel sequencing of 12 human exomes

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F10408363.2012.658906

Experience with screening newborns for Duchenne muscular dystrophy in Wales

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F10408363.2012.658906

Multiplicity of experimental approaches to therapy for genetic muscle diseases and necessity for population screening

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F10408363.2012.658906

Population programs for the detection of couples at risk for severe monogenic genetic diseases

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F10408363.2012.658906

Carrier testing for severe childhood recessive diseases by next-generation sequencing

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F10408363.2012.658906

Mannosidase I inhibition rescues the human alpha-sarcoglycan R77C recurrent mutation

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F10408363.2012.658906

Satellite cell loss and impaired muscle regeneration in selenoprotein N deficiency

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F10408363.2012.658906

Mutations in Cu/Zn superoxide dismutase gene are associated with familial amyotrophic lateral sclerosis

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F10408363.2012.658906

Inflammatory myopathies: management of steroid resistance

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F10408363.2012.658906

Exon skipping and dystrophin restoration in patients with Duchenne muscular dystrophy after systemic phosphorodiamidate morpholino oligomer treatment: an open-label, phase 2, dose-escalation study

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F10408363.2012.658906

Nemaline myopathy caused by absence of alpha-skeletal muscle actin

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F10408363.2012.658906

Homozygous mutation in MYH7 in myosin storage myopathy and cardiomyopathy

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F10408363.2012.658906

MYH7 gene mutation in myosin storage myopathy and scapulo-peroneal myopathy

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F10408363.2012.658906

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

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F10408363.2012.658906

Magnetic resonance imaging of muscle in nemaline myopathy

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F10408363.2012.658906

Accurate assessment of intragenic recombination frequency within the Duchenne muscular dystrophy gene

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F10408363.2012.658906

Facing the genetic heterogeneity in neuromuscular disorders: Linkage analysis as an economic diagnostic approach towards the molecular diagnosis

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F10408363.2012.658906

Congenital neuromuscular disease with uniform type 1 fiber and RYR1 mutation

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F10408363.2012.658906

Mutation screening in dilated cardiomyopathy: prominent role of the beta myosin heavy chain gene

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F10408363.2012.658906

Identification of 45 novel mutations in the nebulin gene associated with autosomal recessive nemaline myopathy

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F10408363.2012.658906

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

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F10408363.2012.658906

10.3109/10408363.2012.658906

21 January 2018

Identifiers

DOI

1 reference

26 August 2017

1 reference

PubMed ID

22468856