(Q45292726)

8811597

11 December 2017

title

New genes for old diseases: the molecular basis of myotonic dystrophy and Huntington's disease. The Lumleian Lecture 1995. (English)

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11 December 2017

0 references

1 reference

P S Harper

1

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=PMCID:PMC5401426&resulttype=core&format=json

14 May 2020

publication date

1 May 1996

1 reference

8811597

Journal of the Royal College of Physicians of London

11 December 2017

published in

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=PMCID:PMC5401426&resulttype=core&format=json

14 May 2020

volume

30

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=PMCID:PMC5401426&resulttype=core&format=json

14 May 2020

issue

3

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=PMCID:PMC5401426&resulttype=core&format=json

14 May 2020

page(s)

221-231

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=PMCID:PMC5401426&resulttype=core&format=json

Congenital myotonic dystrophy in Britain. I. Clinical aspects

14 May 2020

cites work

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12 December 2020

Congenital myotonic dystrophy in Britain. II. Genetic basis

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12 December 2020

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

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12 December 2020

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

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12 December 2020

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

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12 December 2020

Unstable DNA sequence in myotonic dystrophy

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12 December 2020

Dystrophia myotonica in childhood

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12 December 2020

Minimal expression of myotonic dystrophy: a clinical and molecular analysis

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

Anticipation in myotonic dystrophy: new light on an old problem

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12 December 2020

The problem of anticipation in pedigrees of dystrophia myotonica

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12 December 2020

Mendelism in Relation to Disease

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12 December 2020

Instability of a 550-base pair DNA segment and abnormal methylation in fragile X syndrome

1 reference

12 December 2020

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

1 reference

12 December 2020

Detection of linkage disequilibrium between the myotonic dystrophy locus and a new polymorphic DNA marker.

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12 December 2020

Genealogical reconstruction of myotonic dystrophy in the Saguenay-Lac-Saint-Jean area (Quebec, Canada)

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12 December 2020

Linkage disequilibrium in Huntington's disease: an improved localisation for the gene

1 reference

12 December 2020

Anticipation in myotonic dystrophy: fact or fiction?

1 reference

12 December 2020

Anticipation in Huntington's disease is inherited through the male line but may originate in the female

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12 December 2020

Further segregation analysis of the fragile X syndrome with special reference to transmitting males

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12 December 2020

Early-onset dystrophia myotonica. Evidence supporting a maternal environmental factor

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12 December 2020

Molecular diagnostic analysis for Huntington's disease: a prospective evaluation

1 reference

12 December 2020

Mutations in the transmembrane domain of FGFR3 cause the most common genetic form of dwarfism, achondroplasia

1 reference

12 December 2020

Characteristics of intergenerational contractions of the CTG repeat in myotonic dystrophy

1 reference

12 December 2020

Gametic but not somatic instability of CAG repeat length in Huntington's disease.

1 reference

12 December 2020

Familial predisposition to recurrent mutations causing Huntington's disease: genetic risk to sibs of sporadic cases

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12 December 2020

Absence of myotonic dystrophy in southern African Negroids is associated with a significantly lower number of CTG trinucleotide repeats

1 reference

12 December 2020

Glutamine repeats as polar zippers: their possible role in inherited neurodegenerative diseases

1 reference

12 December 2020

Relationship between trinucleotide repeat expansion and phenotypic variation in Huntington's disease

1 reference

12 December 2020

A novel gene containing a trinucleotide repeat that is expanded and unstable on Huntington's disease chromosomes.

1 reference

12 December 2020

Size of the unstable CTG repeat sequence in relation to phenotype and parental transmission in myotonic dystrophy

1 reference

12 December 2020

Origin of the expansion mutation in myotonic dystrophy

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12 December 2020

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

1 reference

12 December 2020

Friedreich's ataxia: autosomal recessive disease caused by an intronic GAA triplet repeat expansion

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12 December 2020

Identifiers

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=PMCID:PMC5401426&resulttype=core&format=json

14 May 2020

8811597

1 reference