Molecular basis of neuromuscular diseases (Q77810812)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9894134%20AND%20SRC:MED&resulttype=core&format=json

8 December 2019

review article

1 reference

title

Molecular basis of neuromuscular diseases (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9894134%20AND%20SRC:MED&resulttype=core&format=json

8 December 2019

Chance PF

1 reference

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8 December 2019

Ashizawa T

series ordinal

1 reference

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8 December 2019

Hoffman EP

series ordinal

1 reference

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8 December 2019

Crawford TO

series ordinal

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8 December 2019

publication date

1 February 1998

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Physical medicine and rehabilitation clinics of North America

8 December 2019

published in

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8 December 2019

volume

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8 December 2019

issue

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8 December 2019

page(s)

49-81, vi

1 reference

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Myotonic dystrophy phenotype without expansion of (CTG)n repeat: An entity distinct from proximal myotonic myopathy (PROMM)?

8 December 2019

cites work

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Abnormal myelination in transplanted Trembler mouse Schwann cells

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The structural and functional diversity of dystrophin

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Larger expansions of the CTG repeat in muscle compared to lymphocytes from patients with myotonic dystrophy

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7 January 2021

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7 January 2021

Anticipation in myotonic dystrophy. II. Complex relationships between clinical findings and structure of the GCT repeat

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7 January 2021

Somatic instability of CTG repeat in myotonic dystrophy

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7 January 2021

Effects of the sex of myotonic dystrophy patients on the unstable triplet repeat in their affected offspring

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7 January 2021

Linkage of a locus (CMT4A) for autosomal recessive Charcot-Marie-Tooth disease to chromosome 8q.

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7 January 2021

Localization of a Gene (CMT2A) for Autosomal Dominant Charcot-Marie-Tooth Disease Type 2 to Chromosome 1p and Evidence of Genetic Heterogeneity

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7 January 2021

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

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7 January 2021

Charcot-Marie-Tooth disease: data for genetic counseling relating age to risk

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7 January 2021

New connexin32 mutations associated with X-linked Charcot-Marie-Tooth disease

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7 January 2021

Duchenne muscular dystrophy: deficiency of dystrophin at the muscle cell surface

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7 January 2021

A novel homeodomain-encoding gene is associated with a large CpG island interrupted by the myotonic dystrophy unstable (CTG)n repeat

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7 January 2021

Recurrent brachial plexus neuropathy

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7 January 2021

Presymptomatic diagnosis of spinal muscular atrophy (SMA) III confirmed by deletion analysis of the survival motor neuron gene

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7 January 2021

Genetic mapping of chronic childhood-onset spinal muscular atrophy to chromosome 5q11.2-13.3

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7 January 2021

Overexpression of myotonic dystrophy kinase in BC3H1 cells induces the skeletal muscle phenotype

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7 January 2021

Fatal rhabdomyolysis complicating general anaesthesia in a child with Becker muscular dystrophy

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7 January 2021

The clinical, genetic and dystrophin characteristics of Becker muscular dystrophy. I. Natural history

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7 January 2021

The clinical, genetic and dystrophin characteristics of Becker muscular dystrophy. II. Correlation of phenotype with genetic and protein abnormalities

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7 January 2021

The limb-girdle muscular dystrophies--proposal for a new nomenclature.

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7 January 2021

A frame–shift deletion in the survival motor neuron gene in Spanish spinal muscular atrophy patients

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7 January 2021

Detection of an unstable fragment of DNA specific to individuals with myotonic dystrophy

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7 January 2021

Three muscular dystrophies: loss of cytoskeleton-extracellular matrix linkage.

1 reference

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7 January 2021

Meiotic drive at the myotonic dystrophy locus?

1 reference

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7 January 2021

Trisomy 17p associated with Charcot-Marie-Tooth neuropathy type 1A phenotype: evidence for gene dosage as a mechanism in CMT1A

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7 January 2021

DNA deletion associated with hereditary neuropathy with liability to pressure palsies

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7 January 2021

Two autosomal dominant neuropathies result from reciprocal DNA duplication/deletion of a region on chromosome 17

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7 January 2021

Hereditary neuralgic amyotrophy and hereditary neuropathy with liability to pressure palsies: two distinct genetic disorders

1 reference

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7 January 2021

Contribution of molecular analyses to the estimation of the risk of congenital myotonic dystrophy.

1 reference

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7 January 2021

Clinical variability in Becker muscular dystrophy. Genetic, biochemical and immunohistochemical correlates

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7 January 2021

The neurobiology of childhood spinal muscular atrophy.

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7 January 2021

Status of the linkage map of the mouse

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7 January 2021

Deletion and conversion in spinal muscular atrophy patients: is there a relationship to severity?

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7 January 2021

Exercise intolerance and recurrent myoglobinuria as the only expression of Xp21 Becker type muscular dystrophy

1 reference

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7 January 2021

INFANTILE MUSCULAR ATROPHY. A PROSPECTIVE STUDY WITH PARTICULAR REFERENCE TO A SLOWLY PROGRESSIVE VARIETY

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7 January 2021

Chaos in classification of the spinal muscular atrophies of childhood

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7 January 2021

alpha-Sarcoglycan (adhalin) deficiency: complete deficiency patients are 5% of childhood-onset dystrophin-normal muscular dystrophy and most partial deficiency patients do not have gene mutations

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7 January 2021

Autosomal recessive muscular dystrophy and mutations of the sarcoglycan complex

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7 January 2021

Phosphorylation reactions of recombinant human myotonic dystrophy protein kinase and their inhibition

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7 January 2021

Intensive evaluation of referred unclassified neuropathies yields improved diagnosis

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7 January 2021

Hereditary motor and sensory neuropathy with diaphragm and vocal cord paresis

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7 January 2021

Population frequencies of inherited neuromuscular diseases—A world survey

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7 January 2021

Deficiency of a glycoprotein component of the dystrophin complex in dystrophic muscle

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7 January 2021

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

1 reference

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7 January 2021

Two new mutants, ‘trembler’ and ‘reeler’, with neurological actions in the house mouse (Mus musculus L.)

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7 January 2021

X-linked neuropathy: gene localization with DNA probes

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7 January 2021

Human haploinsufficiency — one for sorrow, two for joy

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7 January 2021

Sex-linked recessive inheritance in Charcot-Marie-tooth disease with partial clinical manifestations in female carriers

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7 January 2021

An unstable triplet repeat in a gene related to myotonic muscular dystrophy

1 reference

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7 January 2021

Decreased expression of myotonin-protein kinase messenger RNA and protein in adult form of myotonic dystrophy.

1 reference

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7 January 2021

Charcot-Marie-Tooth disease type 1A: morphological phenotype of the 17p duplication versus PMP22 point mutations

1 reference

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7 January 2021

Two divergent types of nerve pathology in patients with different P0 mutations in Charcot-Marie-Tooth disease

1 reference

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7 January 2021

X-linked dominant Charcot-Marie-Tooth disease: suggestion of linkage with a cloned DNA sequence from the proximal Xq.

1 reference

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7 January 2021

Myotonic dystrophy: antisense oligonucleotide inhibition of DMPK gene expression in vitro

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7 January 2021

Meiotic drive at the myotonic dystrophy locus

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7 January 2021

Becker muscular dystrophy: detection of unusual disease courses by combined approach to dystrophin analysis

1 reference

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7 January 2021

Hereditary neuralgic amyotrophy and hereditary neuropathy with liability to pressure palsies: two distinct clinical, electrophysiologic, and genetic entities

1 reference

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7 January 2021

Expansion of an unstable DNA region and phenotypic variation in myotonic dystrophy

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7 January 2021

Unstable DNA sequence in myotonic dystrophy

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7 January 2021

Myotonic dystrophy: will the real gene please step forward!

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7 January 2021

Isolation and sequence determination of cDNA encoding the major structural protein of human peripheral myelin

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7 January 2021

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

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7 January 2021

Mutation of the myelin Po gene in Charcot — Marie — Tooth neuropathy type 1B

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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

Dystrophin: the protein product of the Duchenne muscular dystrophy locus

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7 January 2021

Characterization of dystrophin in muscle-biopsy specimens from patients with Duchenne's or Becker's muscular dystrophy

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7 January 2021

Cell and fiber type distribution of dystrophin

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7 January 2021

Improved diagnosis of Becker muscular dystrophy by dystrophin testing

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7 January 2021

Duchenne-Becker muscular dystrophy and the nondystrophic myotonias. Paradigms for loss of function and change of function of gene products

1 reference

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7 January 2021

Myotonic dystrophy: absence of CTG enlarged transcript in congenital forms, and low expression of the normal allele

1 reference

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7 January 2021

De-novo mutation in hereditary motor and sensory neuropathy type I.

1 reference

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7 January 2021

Localization of dystrophin gene transcripts during mouse embryogenesis

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7 January 2021

The correlation of age of onset with CTG trinucleotide repeat amplification in myotonic dystrophy

1 reference

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7 January 2021

Vincristine neuropathy in type I and type II charcot‐marie‐tooth disease (hereditary motor sensory neuropathy)

1 reference

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7 January 2021

Charcot — Marie — Tooth neuropathy type 1A with both duplication and non-duplication

1 reference

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7 January 2021

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

1 reference

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7 January 2021

Charcot-Marie-Tooth neuropathies: from clinical description to molecular genetics

1 reference

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7 January 2021

Mutations of the noncoding region of the connexin32 gene in X-linked dominant Charcot-Marie-Tooth neuropathy

1 reference

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7 January 2021

Cytoplasmic regulation of mRNA function: The importance of the 3′ untranslated region

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7 January 2021

Heredofamilial neuritis with brachial predilection

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7 January 2021

Structural organization and developmental expression pattern of the mouse WD-repeat gene DMR-N9 immediately upstream of the myotonic dystrophy locus.

1 reference

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7 January 2021

Abnormal myotonic dystrophy protein kinase levels produce only mild myopathy in mice.

1 reference

https://api.crossref.org/works/10.1016%2FS1047-9651%2818%2930280-8

7 January 2021

(CTG)n expansions in various tissues from a myotonic dystrophy patient

1 reference

https://api.crossref.org/works/10.1016%2FS1047-9651%2818%2930280-8

7 January 2021

Analysis of the CMT1A-REP repeat: mapping crossover breakpoints in CMT1A and HNPP.

1 reference

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7 January 2021

Primate origin of the CMT1A-REP repeat and analysis of a putative transposon-associated recombinational hotspot

1 reference

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7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS1047-9651%2818%2930280-8

7 January 2021

Decreased myotonin-protein kinase in the skeletal and cardiac muscles in myotonic dystrophy

1 reference

https://api.crossref.org/works/10.1016%2FS1047-9651%2818%2930280-8

7 January 2021

Effect of Myotonic Dystrophy Trinucleotide Repeat Expansion on DMPK Transcription and Processing

1 reference

https://api.crossref.org/works/10.1016%2FS1047-9651%2818%2930280-8

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS1047-9651%2818%2930280-8

7 January 2021

A novel repeat structure at the myotonic dystrophy locus in a 37 repeat allele with unexpectedly high stability

1 reference

https://api.crossref.org/works/10.1016%2FS1047-9651%2818%2930280-8

7 January 2021

Identification and characterization of a spinal muscular atrophy-determining gene

1 reference

https://api.crossref.org/works/10.1016%2FS1047-9651%2818%2930280-8

7 January 2021

The molecular genetics of myelination: An update

1 reference

https://api.crossref.org/works/10.1016%2FS1047-9651%2818%2930280-8

7 January 2021

Strength training in patients with myotonic dystrophy and hereditary motor and sensory neuropathy: A randomized clinical trial

1 reference

https://api.crossref.org/works/10.1016%2FS1047-9651%2818%2930280-8

7 January 2021

Influence of the sex of the transmitting grandparent in congenital myotonic dystrophy

1 reference

https://api.crossref.org/works/10.1016%2FS1047-9651%2818%2930280-8

7 January 2021

CTG trinucleotide repeat variability in identical twins with myotonic dystrophy

1 reference

https://api.crossref.org/works/10.1016%2FS1047-9651%2818%2930280-8

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS1047-9651%2818%2930280-8

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS1047-9651%2818%2930280-8

7 January 2021

Identification, Tissue-specific Expression, and Subcellular Localization of the 80- and 71-kDa Forms of Myotonic Dystrophy Kinase Protein

1 reference

https://api.crossref.org/works/10.1016%2FS1047-9651%2818%2930280-8

7 January 2021

Myotonic dystrophy mutation: an unstable CTG repeat in the 3' untranslated region of the gene

1 reference

https://api.crossref.org/works/10.1016%2FS1047-9651%2818%2930280-8

7 January 2021

A growth arrest-specific (gas) gene codes for a membrane protein

1 reference

https://api.crossref.org/works/10.1016%2FS1047-9651%2818%2930280-8

7 January 2021

Recurrent familial brachial plexus palsies as the only clinical expression of 'tomaculous' neuropathy

1 reference

https://api.crossref.org/works/10.1016%2FS1047-9651%2818%2930280-8

7 January 2021

Comparison of CTG repeat length expansion and clinical progression of myotonic dystrophy over a five year period

1 reference

https://api.crossref.org/works/10.1016%2FS1047-9651%2818%2930280-8

7 January 2021

Deficiency of dystrophin-associated proteins: a common mechanism leading to muscle cell necrosis in severe childhood muscular dystrophies

1 reference

https://api.crossref.org/works/10.1016%2FS1047-9651%2818%2930280-8

7 January 2021

Peripheral myelin protein-22 gene maps in the duplication in chromosome 17p11.2 associated with Charcot-Marie-Tooth 1A.

1 reference

https://api.crossref.org/works/10.1016%2FS1047-9651%2818%2930280-8

7 January 2021

Cardiac involvement in Becker muscular dystrophy.

1 reference

https://api.crossref.org/works/10.1016%2FS1047-9651%2818%2930280-8

7 January 2021

Dystrophinopathy in two young boys with exercise-induced cramps and myoglobinuria

1 reference

https://api.crossref.org/works/10.1016%2FS1047-9651%2818%2930280-8

7 January 2021

Duchenne dystrophy: Electron microscopic findings pointing to a basic or early abnormality in the plasma membrane of the muscle fiber

1 reference

https://api.crossref.org/works/10.1016%2FS1047-9651%2818%2930280-8

7 January 2021

Isolation of candidate cDNAs for portions of the Duchenne muscular dystrophy gene

1 reference

https://api.crossref.org/works/10.1016%2FS1047-9651%2818%2930280-8

7 January 2021

Somatic mosaicism, germline expansions, germline reversions and intergenerational reductions in myotonic dystrophy males: small pool PCR analyses

1 reference

https://api.crossref.org/works/10.1016%2FS1047-9651%2818%2930280-8

7 January 2021

Hypermutable myotonic dystrophy CTG repeats in transgenic mice

1 reference

https://api.crossref.org/works/10.1016%2FS1047-9651%2818%2930280-8

7 January 2021

Modulation of skeletal muscle sodium channels by human myotonin protein kinase

1 reference

https://api.crossref.org/works/10.1016%2FS1047-9651%2818%2930280-8

7 January 2021

Explanation for exclusive maternal origin for congenital form of myotonic dystrophy

1 reference

https://api.crossref.org/works/10.1016%2FS1047-9651%2818%2930280-8

7 January 2021

Specific molecular prenatal diagnosis for the CTG mutation in myotonic dystrophy

1 reference

https://api.crossref.org/works/10.1016%2FS1047-9651%2818%2930280-8

7 January 2021

Vincristine treatment triggering the expression of asymptomatic Charcot-Marie-Tooth disease

1 reference

https://api.crossref.org/works/10.1016%2FS1047-9651%2818%2930280-8

7 January 2021

Penetrance of the hereditary motor and sensory neuropathy Ia mutation: assessment by nerve conduction studies

1 reference

https://api.crossref.org/works/10.1016%2FS1047-9651%2818%2930280-8

7 January 2021

A frame shift mutation in the PMP22 gene in hereditary neuropathy with liability to pressure palsies

1 reference

https://api.crossref.org/works/10.1016%2FS1047-9651%2818%2930280-8

7 January 2021

(CTG)n Triplet Mutation and Phenotype Manifestations in Myotonic Dystrophy Patients

1 reference

https://api.crossref.org/works/10.1016%2FS1047-9651%2818%2930280-8

7 January 2021

Dystrophin-associated proteins in muscular dystrophy

1 reference

https://api.crossref.org/works/10.1016%2FS1047-9651%2818%2930280-8

7 January 2021

The gene for the peripheral myelin protein PMP-22 is a candidate for Charcot-Marie-Tooth disease type 1A

1 reference

https://api.crossref.org/works/10.1016%2FS1047-9651%2818%2930280-8

7 January 2021

Unusual expression and very mild course of Xp21 muscular dystrophy (Becker type) in a 60-year-old man with 26 percent deletion of the dystrophin gene

1 reference

https://api.crossref.org/works/10.1016%2FS1047-9651%2818%2930280-8

7 January 2021

Mapping of hereditary neuralgic amyotrophy (familial brachial plexus neuropathy) to distal chromosome 17q

1 reference

https://api.crossref.org/works/10.1016%2FS1047-9651%2818%2930280-8

7 January 2021

Charcot-Marie-Tooth type 1A duplication appears to arise from recombination at repeat sequences flanking the 1.5 Mb monomer unit

1 reference

https://api.crossref.org/works/10.1016%2FS1047-9651%2818%2930280-8

7 January 2021

Dystrophin protects the sarcolemma from stresses developed during muscle contraction

1 reference

https://api.crossref.org/works/10.1016%2FS1047-9651%2818%2930280-8

7 January 2021

Duplication in chromosome 17p11.2 in Charcot-Marie-Tooth neuropathy type 1a (CMT 1a)

1 reference

https://api.crossref.org/works/10.1016%2FS1047-9651%2818%2930280-8

7 January 2021

Identification of a de novo insertional mutation in P0 in a patient with a Déjérine-Sottas syndrome (DSS) phenotype

1 reference

https://api.crossref.org/works/10.1016%2FS1047-9651%2818%2930280-8

7 January 2021

Mice lacking the myotonic dystrophy protein kinase develop a late onset progressive myopathy

1 reference

https://api.crossref.org/works/10.1016%2FS1047-9651%2818%2930280-8

7 January 2021

Relationship between parental trinucleotide GCT repeat length and severity of myotonic dystrophy in offspring

1 reference

https://api.crossref.org/works/10.1016%2FS1047-9651%2818%2930280-8

7 January 2021

A recombination hotspot responsible for two inherited peripheral neuropathies is located near a mariner transposon-like element.

1 reference

https://api.crossref.org/works/10.1016%2FS1047-9651%2818%2930280-8

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS1047-9651%2818%2930280-8

7 January 2021

Fragile X syndrome unstable element, p(CCG)n, and other simple tandem repeat sequences are binding sites for specific nuclear proteins

1 reference

https://api.crossref.org/works/10.1016%2FS1047-9651%2818%2930280-8

7 January 2021

Proximal myotonic myopathy. Clinical features of a multisystem disorder similar to myotonic dystrophy

1 reference

https://api.crossref.org/works/10.1016%2FS1047-9651%2818%2930280-8

7 January 2021

Charcot-Marie-Tooth Disease Type 1A -- Association with a Spontaneous Point Mutation in the PMP22 Gene

1 reference

https://api.crossref.org/works/10.1016%2FS1047-9651%2818%2930280-8

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS1047-9651%2818%2930280-8

7 January 2021

Myelin protein zero (MPZ) gene mutations in nonduplication type 1 Charcot-Marie-Tooth disease

1 reference

https://api.crossref.org/works/10.1016%2FS1047-9651%2818%2930280-8

7 January 2021

Exon structure of the human dystrophin gene

1 reference

https://api.crossref.org/works/10.1016%2FS1047-9651%2818%2930280-8

7 January 2021

Biochemistry of muscle membranes in Duchenne muscular dystrophy

1 reference

https://api.crossref.org/works/10.1016%2FS1047-9651%2818%2930280-8

7 January 2021

The gene for neuronal apoptosis inhibitory protein is partially deleted in individuals with spinal muscular atrophy

1 reference

https://api.crossref.org/works/10.1016%2FS1047-9651%2818%2930280-8

7 January 2021

Function changes in spinal muscular atrophy II and III. The DCN/SMA Group

1 reference

https://api.crossref.org/works/10.1016%2FS1047-9651%2818%2930280-8

7 January 2021

Spinal muscular atrophy: new thoughts on the pathogenesis and classification schema

1 reference

https://api.crossref.org/works/10.1016%2FS1047-9651%2818%2930280-8

7 January 2021

Effect of the myotonic dystrophy (DM) mutation on mRNA levels of the DM gene

1 reference

https://api.crossref.org/works/10.1016%2FS1047-9651%2818%2930280-8

7 January 2021

Effect of artificial (CTG) repeat expansion on the expression of myotonin protein kinase (MtPK) in COS-1 cells

1 reference

https://api.crossref.org/works/10.1016%2FS1047-9651%2818%2930280-8

7 January 2021

Characterization of a novel peripheral nervous system myelin protein (PMP-22/SR13)

1 reference

https://api.crossref.org/works/10.1016%2FS1047-9651%2818%2930280-8

7 January 2021

Trembler mouse carries a point mutation in a myelin gene

1 reference

https://api.crossref.org/works/10.1016%2FS1047-9651%2818%2930280-8

7 January 2021

Unstable DNA in a patient with a severe form of congenital myotonic dystrophy

1 reference

https://api.crossref.org/works/10.1016%2FS1047-9651%2818%2930280-8

7 January 2021

Asymptomatic Becker muscular dystrophy: expression of dystrophin and dystrophin-related protein

1 reference

https://api.crossref.org/works/10.1016%2FS1047-9651%2818%2930280-8

7 January 2021

Minimal somatic instability of CTG repeat in congenital myotonic dystrophy

1 reference

https://api.crossref.org/works/10.1016%2FS1047-9651%2818%2930280-8

7 January 2021

Foci of trinucleotide repeat transcripts in nuclei of myotonic dystrophy cells and tissues

1 reference

https://api.crossref.org/works/10.1016%2FS1047-9651%2818%2930280-8

7 January 2021

The natural history of type I (severe) spinal muscular atrophy

1 reference

https://api.crossref.org/works/10.1016%2FS1047-9651%2818%2930280-8

7 January 2021

A novel cDNA detects homozygous microdeletions in greater than 50% of type I spinal muscular atrophy patients

1 reference

https://api.crossref.org/works/10.1016%2FS1047-9651%2818%2930280-8

7 January 2021

Myotonic dystrophy patients have larger CTG expansions in skeletal muscle than in leukocytes

1 reference

https://api.crossref.org/works/10.1016%2FS1047-9651%2818%2930280-8

7 January 2021

Identification of a (CUG)n triplet repeat RNA-binding protein and its expression in myotonic dystrophy

1 reference

https://api.crossref.org/works/10.1016%2FS1047-9651%2818%2930280-8

7 January 2021

Novel proteins with binding specificity for DNA CTG repeats and RNA CUG repeats: implications for myotonic dystrophy

1 reference

https://api.crossref.org/works/10.1016%2FS1047-9651%2818%2930280-8

7 January 2021

The peripheral myelin protein gene PMP-22 is contained within the Charcot-Marie-Tooth disease type 1A duplication

1 reference

https://api.crossref.org/works/10.1016%2FS1047-9651%2818%2930280-8

7 January 2021

Increasing complexity of the dystrophin-associated protein complex

1 reference

https://api.crossref.org/works/10.1016%2FS1047-9651%2818%2930280-8

7 January 2021

Cardiac involvement in a large kindred with myotonic dystrophy. Quantitative assessment and relation to size of CTG repeat expansion

1 reference

https://api.crossref.org/works/10.1016%2FS1047-9651%2818%2930280-8

7 January 2021

Natural history of brachial plexus neuropathy. Report on 99 patients.

1 reference

https://api.crossref.org/works/10.1016%2FS1047-9651%2818%2930280-8

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS1047-9651%2818%2930280-8

7 January 2021

Alternatively sized duplication in Charcot-Marie-Tooth disease type 1A

1 reference

https://api.crossref.org/works/10.1016%2FS1047-9651%2818%2930280-8

7 January 2021

Linkage of Charcot-Marie-Tooth neuropathy type 1a to chromosome 17

1 reference

https://api.crossref.org/works/10.1016%2FS1047-9651%2818%2930280-8

7 January 2021

Localization of Charcot-Marie-Tooth disease type 1a (CMT1A) to chromosome 17p11.2.

1 reference

https://api.crossref.org/works/10.1016%2FS1047-9651%2818%2930280-8

7 January 2021

Myotonic dystrophy kinase is a component of neuromuscular junctions

1 reference

https://api.crossref.org/works/10.1016%2FS1047-9651%2818%2930280-8

7 January 2021

The peripheral myelin gene PMP-22/GAS-3 is duplicated in Charcot-Marie-Tooth disease type 1A

1 reference

https://api.crossref.org/works/10.1016%2FS1047-9651%2818%2930280-8

7 January 2021

Identical point mutations of PMP-22 in Trembler-J mouse and Charcot-Marie-Tooth disease type 1A

1 reference

https://api.crossref.org/works/10.1016%2FS1047-9651%2818%2930280-8

7 January 2021

Metabolic and clinical response to recombinant human insulin-like growth factor I in myotonic dystrophy--a clinical research center study

1 reference

https://api.crossref.org/works/10.1016%2FS1047-9651%2818%2930280-8

7 January 2021

Myotonic dystrophy: evidence for a possible dominant-negative RNA mutation

1 reference

https://api.crossref.org/works/10.1016%2FS1047-9651%2818%2930280-8

7 January 2021

Expanded CTG triplet blocks from the myotonic dystrophy gene create the strongest known natural nucleosome positioning elements

1 reference

https://api.crossref.org/works/10.1016%2FS1047-9651%2818%2930280-8

7 January 2021

Preferential nucleosome assembly at DNA triplet repeats from the myotonic dystrophy gene

1 reference

https://api.crossref.org/works/10.1016%2FS1047-9651%2818%2930280-8

7 January 2021

Mivacurium chloride and myotonic dystrophy

1 reference

https://api.crossref.org/works/10.1016%2FS1047-9651%2818%2930280-8

7 January 2021

A myelin protein is encoded by the homologue of a growth arrest-specific gene

1 reference

https://api.crossref.org/works/10.1016%2FS1047-9651%2818%2930280-8

7 January 2021

Characterization of myotonic dystrophy kinase (DMK) protein in human and rodent muscle and central nervous tissue

1 reference

https://api.crossref.org/works/10.1016%2FS1047-9651%2818%2930280-8

7 January 2021

The molecular basis of genetic dominance

1 reference

https://api.crossref.org/works/10.1016%2FS1047-9651%2818%2930280-8

7 January 2021

Allelic association and deletions in autosomal recessive proximal spinal muscular atrophy: association of marker genotype with disease severity and candidate cDNAs

1 reference

https://api.crossref.org/works/10.1016%2FS1047-9651%2818%2930280-8

7 January 2021

Molecular analysis of the Duchenne muscular dystrophy gene in patients with Becker muscular dystrophy presenting with dilated cardiomyopathy

1 reference

https://api.crossref.org/works/10.1016%2FS1047-9651%2818%2930280-8

7 January 2021

Elevated expression of messenger RNA for peripheral myelin protein 22 in biopsied peripheral nerves of patients with Charcot-Marie-Tooth disease type 1A

1 reference

https://api.crossref.org/works/10.1016%2FS1047-9651%2818%2930280-8

7 January 2021

Analysis of the CTG repeat in skeletal muscle of young and adult myotonic dystrophy patients: when does the expansion occur?

1 reference

https://api.crossref.org/works/10.1016%2FS1047-9651%2818%2930280-8

7 January 2021

Natural history in proximal spinal muscular atrophy. Clinical analysis of 445 patients and suggestions for a modification of existing classifications

1 reference

https://api.crossref.org/works/10.1016%2FS1047-9651%2818%2930280-8

7 January 2021

10.1016/S1047-9651(18)30280-8

Identifiers

DOI

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9894134%20AND%20SRC:MED&resulttype=core&format=json

8 December 2019

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9894134%20AND%20SRC:MED&resulttype=core&format=json