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Prevalence and Incidence of Huntington's Disease

Movement disorders, 2023-08, Vol.38 (8), p.1570-1572

2023

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Defining pediatric huntington disease: Time to abandon the term Juvenile Huntington Disease?

Movement disorders, 2019-04, Vol.34 (4), p.584-585

2019

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The global prevalence of Huntington's disease: a systematic review and discussion

Neurodegenerative disease management, 2016-08, Vol.6 (4), p.331-343

2016

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Biallelic variants in PIGN cause Fryns syndrome, multiple congenital anomalies-hypotonia-seizures syndrome, and neurologic phenotypes: A genotype–phenotype correlation study

Genetics in medicine, 2023-01, Vol.25 (1), p.37-48

2023

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Cardiac Genetic Investigation of Sudden Infant and Early Childhood Death: A Study From Victims to Families

Journal of the American Heart Association, 2023-09, Vol.12 (17), p.e029100-e029100

2023

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‘We have been in lockdown since he was born’: a mixed methods exploration of the experiences of families caring for children with intellectual disability during the COVID-19 pandemic in the UK

BMJ open, 2021-09, Vol.11 (9), p.e049386-e049386

2021

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27 years of prenatal diagnosis for Huntington disease in the United Kingdom

Genetics in medicine, 2019-07, Vol.21 (7), p.1639-1643

2019

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Managing Juvenile Huntington’s Disease

Neurodegenerative Disease Management, 2013-06, Vol.3 (3), p.267-276

2013

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Homozygous GDF2 nonsense mutations result in a loss of circulating BMP9 and BMP10 and are associated with either PAH or an “HHT‐like” syndrome in children

Molecular genetics & genomic medicine, 2021-12, Vol.9 (12), p.e1685-n/a

2021

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Reduced penetrance alleles for Huntington’s disease: a multi-centre direct observational study

Journal of medical genetics, 2007-03, Vol.44 (3), p.e68-e68

2007

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Dystonia in Pediatric Huntington's Disease; Prominent and Possibly Painful

Movement disorders clinical practice (Hoboken, N.J.), 2023-10, Vol.10 (10), p.1552-1553

2023

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F17 Juvenile onset huntington’s disease: the health status and perspective of family carers

Journal of neurology, neurosurgery and psychiatry, 2018-09, Vol.89 (Suppl 1), p.A45

2018

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Predictive testing of minors for Huntington's disease: The UK and Netherlands experiences

American journal of medical genetics. Part B, Neuropsychiatric genetics, 2018-01, Vol.177 (1), p.35-39

2018

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Letter in Response to Tibben et al., Risk Assessment for Huntington’s Disease for (Future) Offspring Requires Offering Preconceptional CAG Analysis to Both Partners

Journal of Huntington's disease, 2019-01, Vol.8 (3), p.357-359

2019

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Telomere healing following DNA polymerase arrest‐induced breakages is likely the main mechanism generating chromosome 4p terminal deletions

Human mutation, 2010-12, Vol.31 (12), p.1343-1351

2010

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Subtelomeric deletions of chromosome 9q: A novel microdeletion syndrome

American journal of medical genetics, 2004-08, Vol.128A (4), p.340-351

2004

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The OEIS complex: two case reports that illustrate the spectrum of abnormalities and a review of the literature

Prenatal diagnosis, 2006-03, Vol.26 (3), p.267-272

2006

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F12 Join-HD: the juvenile onset initiative for Huntington’s disease

Journal of neurology, neurosurgery and psychiatry, 2022-09, Vol.93 (Suppl 1), p.A40-A40

2022

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Seizure frequency in adults with Wolf-Hirschhorn syndrome

American journal of medical genetics. Part A, 2008-10, Vol.146A (19), p.2528-2531

2008

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F53 Introducing join-HD: the juvenile onset initiative for huntington’s disease

Journal of neurology, neurosurgery and psychiatry, 2021-09, Vol.92 (Suppl 1), p.A40-A41

2021

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I1 The prevalence of huntington’s disease (HD): a systematic review of reports published since 1993

Journal of neurology, neurosurgery and psychiatry, 2016-09, Vol.87 (Suppl 1), p.A59-A59

2016

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K9 Families’ perspectives on the potential of a virtual MDT for patients with JHD

Journal of neurology, neurosurgery and psychiatry, 2016-09, Vol.87 (Suppl 1), p.A82-A82

2016

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Cancer Risks for BRCA1 and BRCA2 Mutation Carriers: Results From Prospective Analysis of EMBRACE

JNCI : Journal of the National Cancer Institute, 2013-06, Vol.105 (11), p.812-822

2013

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Childhood intellectual disability and parents' mental health: integrating social, psychological and genetic influences

British journal of psychiatry, 2021-06, Vol.218 (6), p.315-322

2021

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Prevalence and Incidence of Huntington's Disease

Defining pediatric huntington disease: Time to abandon the term Juvenile Huntington Disease?

The global prevalence of Huntington's disease: a systematic review and discussion

Biallelic variants in PIGN cause Fryns syndrome, multiple congenital anomalies-hypotonia-seizures syndrome, and neurologic phenotypes: A genotype–phenotype correlation study

Cardiac Genetic Investigation of Sudden Infant and Early Childhood Death: A Study From Victims to Families

‘We have been in lockdown since he was born’: a mixed methods exploration of the experiences of families caring for children with intellectual disability during the COVID-19 pandemic in the UK

27 years of prenatal diagnosis for Huntington disease in the United Kingdom

Managing Juvenile Huntington’s Disease

Homozygous GDF2 nonsense mutations result in a loss of circulating BMP9 and BMP10 and are associated with either PAH or an “HHT‐like” syndrome in children

Reduced penetrance alleles for Huntington’s disease: a multi-centre direct observational study

Dystonia in Pediatric Huntington's Disease; Prominent and Possibly Painful

F17 Juvenile onset huntington’s disease: the health status and perspective of family carers

Predictive testing of minors for Huntington's disease: The UK and Netherlands experiences

Letter in Response to Tibben et al., Risk Assessment for Huntington’s Disease for (Future) Offspring Requires Offering Preconceptional CAG Analysis to Both Partners

Telomere healing following DNA polymerase arrest‐induced breakages is likely the main mechanism generating chromosome 4p terminal deletions

Subtelomeric deletions of chromosome 9q: A novel microdeletion syndrome

The OEIS complex: two case reports that illustrate the spectrum of abnormalities and a review of the literature

F12 Join-HD: the juvenile onset initiative for Huntington’s disease

Seizure frequency in adults with Wolf-Hirschhorn syndrome

F53 Introducing join-HD: the juvenile onset initiative for huntington’s disease

I1 The prevalence of huntington’s disease (HD): a systematic review of reports published since 1993

K9 Families’ perspectives on the potential of a virtual MDT for patients with JHD

Cancer Risks for BRCA1 and BRCA2 Mutation Carriers: Results From Prospective Analysis of EMBRACE

Childhood intellectual disability and parents' mental health: integrating social, psychological and genetic influences

A Genetics-First Approach to Dissecting the Heterogeneity of Autism: Phenotypic Comparison of Autism Risk Copy Number Variants

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