Benign hereditary chorea related toNKX2.1: expansion of the genotypic and phenotypic spectrum-Reference-Cited by-同舟云学术

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Benign hereditary chorea related toNKX2.1: expansion of the genotypic and phenotypic spectrum

Published:2013-10-31 Issue:7 Volume:56 Page:642-648
ISSN:0012-1622
Container-title:Developmental Medicine & Child Neurology
language:en
Short-container-title:Dev Med Child Neurol

Author:

Peall Kathryn J¹,Lumsden Daniel²,Kneen Rachel³,Madhu Rajesh³,Peake Deirdre⁴,Gibbon Frances⁵,Lewis Hilary⁶,Hedderly Tammy²,Meyer Esther⁷,Robb Stephanie A⁸,Lynch Bryan⁹,King Mary D⁹,Lin Jean-Pierre²,Morris Huw R¹,Jungbluth Heinz²,Kurian Manju A⁷

Affiliation:

1. MRC Centre for Neuropsychiatric Genetics and Genomics; Institute of Psychological Medicine & Clinical Neurosciences; Cardiff University; Cardiff UK

2. Department of Paediatric Neurology; Evelina Children's Hospital; St Thomas' Hospital; London UK

3. Roald Dahl EEG Department; Alder Hey Children's Hospital; Liverpool UK

4. Royal Belfast Hospital for Sick Children; Belfast UK

5. Department of Paediatric Neurology; University Hospital of Wales; Cardiff UK

6. Department of Paediatrics; Royal Gwent Hospital; Newport UK

7. ICH-Neurosciences Unit; University College London; London UK

8. Dubowitz Neuromuscular Centre; Great Ormond Street Hospital; London UK

9. Paediatric Neurology; Children's University Hospital; Dublin Ireland

Funder

Ipsen Fund

Guy's and St Thomas' Charity

Action Medical Research

Medical Research Council

Parkinson's UK

Great Ormond Street Hospital Charity

Wellcome Trust

The Dystonia Society UK

Welsh Clinical Academic Track

Publisher

Wiley

Subject

Neurology (clinical),Developmental Neuroscience,Pediatrics, Perinatology and Child Health

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1111/dmcn.12323/fullpdf

Reference25 articles.

1. Mutations in TITF-1 are associated with benign hereditary chorea;Breedveld;Hum Mol Genet,2002

2. A novel nonsense mutation in the TITF-1 gene in a Japanese family with benign hereditary chorea;Nakamura;J Neurol Sci,2012

3. Deletion of thyroid transcription factor-1 gene in an infant with neonatal thyroid dysfunction and respiratory failure;Devriendt;N Engl J Med,1998

4. A novel TITF-1 mutation causes benign hereditary chorea with response to levodopa;Asmus;Neurology,2005

5. Choreoathetosis, hypothyroidism, and pulmonary alterations due to human NKX2-1 haploinsufficiency;Krude;J Clin Invest,2002

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3. Insights from European Reference Network for rare neurological disorders study surveys on diagnosis, treatment, and management of NKX2-1-related disorders;European Journal of Paediatric Neurology;2024-07

4. Differential diagnosis of Huntington’s disease− neurological aspects of NKX2-1-related disorders;Journal of Neural Transmission;2024-06-25

5. Exploring the Genetic Landscape of Chorea in Infancy and Early Childhood: Implications for Diagnosis and Treatment;Current Issues in Molecular Biology;2024-06-06

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