Intelligence quotient profile in myotonic dystrophy, intergenerational deficit, and correlation with CTG amplification (Q33673856)

28 July 2017

Intelligence quotient profile in myotonic dystrophy, intergenerational deficit, and correlation with CTG amplification (English)

1 reference

28 July 2017

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Turnpenny P

1

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28 July 2017

Clark C

series ordinal

2

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28 July 2017

Kelly K

series ordinal

3

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28 July 2017

language of work or name

English

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publication date

1 April 1994

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Journal of Medical Genetics

28 July 2017

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28 July 2017

31

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28 July 2017

4

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28 July 2017

300-305

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

28 July 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1049802

Myotonic dystrophy: size- and sex-dependent dynamics of CTG meiotic instability, and somatic mosaicism.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1049802

Cognitive and personality function in myotonic muscular dystrophy

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1049802

Psychometric evaluation in myotonic muscular dystrophy.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1049802

Central nervous system magnetic resonance imaging findings in myotonic dystrophy.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1049802

Disturbed personality and psychosocial adjustment in myotonic dystrophy: relationship to intellectual/cognitive function and underlying affective disorder (depression).

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1049802

Neuropsychological profile in myotonic dystrophy

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1049802

Neuropsychological deficits and sleep in myotonic dystrophy.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1049802

Genetic risks for children of women with myotonic dystrophy

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1049802

Myotonic dystrophy: an electrophysiological study of cognitive deficits.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1049802

Cognitive and neuroradiological findings in myotonic dystrophy

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1049802

Decreased cerebral glucose utilization in myotonic dystrophy

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1049802

Short-forms of the UK WAIS-R: Regression equations and their predictive validity in a general population sample

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1049802

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

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1049802

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

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1049802

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 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1049802

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

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1049802

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

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1049802

EEG FINDINGS IN MYOTONIA DYSTROPHICA.

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1049802

Whole body insulin resistance in myotonic dystrophy.

30 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1049802

The EEG in dystrophia myotonica.

30 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1049802

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

30 October 2018

1 reference

12 December 2020

Cognitive and psychiatric evaluation of 40 patients with myotonic dystrophy

1 reference

12 December 2020

Unstable DNA sequence in myotonic dystrophy

1 reference

12 December 2020

EEG observations in dystrophia myotonica (Curschmann-Steinert)

1 reference

12 December 2020

Neuropsychological findings in myotonic dystrophy

1 reference

12 December 2020

Magnetic resonance imaging and clinical correlates of intellectual impairment in myotonic dystrophy

1 reference

12 December 2020

Identifiers

DOI

10.1136/JMG.31.4.300

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28 July 2017

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28 July 2017

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