Avoiding Premature Diagnostic Closure: Lessons from Two Children with Neurotransmitter Disorders Associated with Dual Pathology-Reference-Cited by-同舟云学术

Avoiding Premature Diagnostic Closure: Lessons from Two Children with Neurotransmitter Disorders Associated with Dual Pathology

Published:2024-07-31 Issue:9 Volume:11 Page:1149-1152
ISSN:2330-1619
Container-title:Movement Disorders Clinical Practice
language:en
Short-container-title:Movement Disord Clin Pract

Author:

Salazar‐Villacorta Ainara¹^ORCID,Spaull Robert²³^ORCID,Chowdhury Samyami⁴,Mukhtyar Bina⁵,Chitre Manali⁶,Armstrong Ruth⁷,Sa Mario⁸,Chandratre Saleel⁸,Kini Usha⁹,Chinthapalli Ravi¹⁰,Mankad Kshitij¹¹,Sudhakar Sniya¹¹,Pope Simon¹²,Heales Simon¹²,Kurian Manju A.²³^ORCID

Affiliation:

1. Neurogenetics Department UCL Queen Square Institute of Neurology London UK

2. Developmental Neurosciences Zayed Centre for Research into Rare Disease in Children, UCL Great Ormond Street Institute of Child Health London UK

3. Department of Neurology Great Ormond Street Hospital London UK

4. Division of Neurology The Hospital for Sick Children Toronto Ontario Canada

5. Department of Paediatrics Norfolk and Norwich University Hospital Norwich UK

6. Department of Paediatric Neurology Cambridge University Hospitals NHS Foundation Trust Cambridge UK

7. Department of Clinical Genetics Cambridge University Hospitals NHS Foundation Trust Cambridge UK

8. Department of Paediatric Neurology Oxford University Hospitals NHS Foundation Trust Oxford UK

9. Oxford Centre for Genomic Medicine Oxford University Hospitals NHS Foundation Trust Oxford UK

10. Department of Paediatrics The Great Western Hospital Wiltshire UK

11. Department of Radiology Great Ormond Street Hospital London UK

12. Neurometabolic Unit The National Hospital for Neurology and Neurosurgery London UK

Publisher

Wiley

Reference10 articles.

1. Insights into the expanding phenotypic spectrum of inherited disorders of biogenic amines

2. Monoamine neurotransmitter disorders—clinical advances and future perspectives

3. Heterozygous deletion at 14q22.1-q22.3 including theBMP4gene in a patient with psychomotor retardation, congenital corneal opacity and feet polysyndactyly

4. Impaired motor performance and learning in glia maturation factor-knockout mice

5. Genetic mimics of cerebral palsy