(Q37443153)

20 August 2017

Managing juvenile Huntington's disease (English)

1 reference

20 August 2017

0 references

6

Ferdinando Squitieri

1 reference

20 August 2017

Oliver W J Quarrell

1

1 reference

20 August 2017

Martha A Nance

2

1 reference

20 August 2017

Peggy Nopoulos

3

1 reference

20 August 2017

Jane S Paulsen

4

1 reference

20 August 2017

Jonathan A Smith

5

1 reference

20 August 2017

1 June 2013

1 reference

Neurodegenerative disease management

20 August 2017

1 reference

20 August 2017

3

1 reference

20 August 2017

3

1 reference

The personal experience of parenting a child with juvenile Huntington's disease: perceptions across Europe

20 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3883192

The Prevalence of Juvenile Huntington's Disease: A Review of the Literature and Meta-Analysis.

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3883192

Measures of growth in children at risk for Huntington disease

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3883192

Current Pharmacological Management in Juvenile Huntington's Disease.

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3883192

Characterization of a large group of individuals with huntington disease and their relatives enrolled in the COHORT study

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3883192

Pridopidine for the treatment of motor function in patients with Huntington's disease (MermaiHD): a phase 3, randomised, double-blind, placebo-controlled trial

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3883192

Observing Huntington's Disease: the European Huntington's Disease Network's REGISTRY

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3883192

Huntington's disease out of the closet?

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3883192

Biological and clinical manifestations of Huntington's disease in the longitudinal TRACK-HD study: cross-sectional analysis of baseline data

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3883192

Beyond the brain: widespread pathology in Huntington's disease

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3883192

Factors associated with HD CAG repeat instability in Huntington disease

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3883192

Psychiatric and cognitive difficulties as indicators of juvenile huntington disease onset in 29 patients

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3883192

Juvenile Huntington's disease: does a dosage-effect pathogenic mechanism differ from the classical adult disease?

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3883192

Palliative care management of a child with juvenile onset Huntington's disease

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3883192

No post-genetics era in human disease research

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3883192

Juvenile onset Huntington's disease--clinical and research perspectives.

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3883192

Analysis of a very large trinucleotide repeat in a patient with juvenile Huntington's disease

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3883192

Differences in duration of Huntington's disease based on age at onset

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3883192

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

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3883192

Duration of illness in Huntington's disease is not related to age at onset

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3883192

The relationship between trinucleotide (CAG) repeat length and clinical features of Huntington's disease

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3883192

Trinucleotide repeat length instability and age of onset in Huntington's disease

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3883192

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

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3883192

Huntington's disease in children. Neuropathologic study of four cases

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3883192

Early onset Huntington disease: a neuronal degeneration syndrome

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3883192

Huntington disease in children: genotype-phenotype correlation

26 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3883192

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

26 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3883192

Trinucleotide repeat elongation in the Huntingtin gene in Huntington disease patients from 71 Danish families

26 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3883192

Mitotic stability and meiotic variability of the (CAG)n repeat in the Huntington disease gene

26 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3883192

Factors influencing dementia and epilepsy in Huntington's disease of early onset

26 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3883192

Factors influencing age at onset and duration of survival in Huntington's chorea

26 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3883192

Seven cases of huntington's disease in childhood and levodopa induced improvement in the hypokinetic — Rigid form

26 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3883192

Parental transmission in Huntington's disease

26 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3883192

Parental ascent in the juvenile form of Huntington's chorea

26 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3883192

Juvenile Huntington disease

26 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3883192

Degeneration of the cerebellum in Huntington's disease (HD): possible relevance for the clinical picture and potential gateway to pathological mechanisms of the disease process.

26 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3883192

Recommendations for the predictive genetic test in Huntington's disease

2 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3883192

The impact of Juvenile Huntington's Disease on the family: the case of a rare childhood condition.

2 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3883192

Caring for a child with Juvenile Huntington's Disease: helpful and unhelpful support.

2 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3883192

Huntington disease in a 9-year-old boy: clinical course and neuropathologic examination

2 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3883192

Speech and language delay are early manifestations of juvenile-onset Huntington disease

2 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3883192

Preparing for preventive clinical trials: the Predict-HD study

2 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3883192

The personal experience of juvenile Huntington's disease: an interpretative phenomenological analysis of parents' accounts of the primary features of a rare genetic condition

2 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3883192

The gender effect in juvenile Huntington disease patients of Italian origin

2 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3883192

OBSERVATIONS ON HUNTINGTON'S CHOREA IN CHILDHOOD.

2 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3883192

HUNTINGTON'S CHOREA IN CHILDHOOD.

2 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3883192

Highly disabling cerebellar presentation in Huntington disease.

2 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3883192

Chorea Huntington: a rare case with childhood onset

2 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3883192

Juvenile Huntington's disease presenting as progressive myoclonic epilepsy.

2 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3883192

Analysis of germline mutation spectra at the Huntington's disease locus supports a mitotic mutation mechanism

2 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3883192

Large intergenerational variation in age of onset in two young patients with Huntington's disease presenting as dyskinesia

2 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3883192

Genetic testing of children at risk for Huntington's disease. US Huntington Disease Genetic Testing Group

2 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3883192

Juvenile Huntington disease in the Netherlands

2 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3883192

Huntington's disease CAG trinucleotide repeats in pathologically confirmed post-mortem brains

2 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3883192

Molecular analysis of juvenile Huntington disease: the major influence on (CAG)n repeat length is the sex of the affected parent.

2 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3883192

Molecular analysis and clinical correlations of the Huntington's disease mutation

2 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3883192

Juvenile Huntington disease: CT and MR features.

2 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3883192

Huntington's disease - neuropathology

2 September 2018

1 reference

Juvenile Huntington disease in an 18-month-old boy revealed by global developmental delay and reduced cerebellar volume

21 January 2018

1 reference

Unified Huntington's disease rating scale: Reliability and consistency

21 January 2018

1 reference

Laboratory Guidelines for Huntington Disease Genetic Testing

21 January 2018

1 reference

ACMG/ASHG statement. Laboratory guidelines for Huntington disease genetic testing. The American College of Medical Genetics/American Society of Human Genetics Huntington Disease Genetic Testing Working Group

21 January 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/24416077

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Juvenile onset Huntington disease resulting from a very large maternal expansion

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/24416077

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Correlations between triplet repeat expansion and clinical features in Huntington's disease

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/24416077

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.2217/NMT.13.18

1 reference

20 August 2017

1 reference

20 August 2017

PubMed publication ID

24416077

1 reference