Phenotypic insights into ADCY5 ‐associated disease-Reference-Cited by-同舟云学术

Phenotypic insights into ADCY5 ‐associated disease

Published:2016-04-08 Issue:7 Volume:31 Page:1033-1040
ISSN:0885-3185
Container-title:Movement Disorders
language:en
Short-container-title:Mov Disord.

Author:

Chang Florence C.F.¹,Westenberger Ana²,Dale Russell C.³⁴,Smith Martin⁵,Pall Hardev S.⁶,Perez‐Dueñas Belen⁷⁸,Grattan‐Smith Padraic³,Ouvrier Robert A.³,Mahant Neil⁹,Hanna Bernadette C.¹⁰,Hunter Matthew¹⁰¹¹,Lawson John A.¹²,Max Christoph²,Sachdev Rani¹³,Meyer Esther⁷,Crimmins Dennis¹⁴,Pryor Donald¹⁵,Morris John G.L.¹,Münchau Alex²,Grozeva Detelina¹⁶,Carss Keren J.¹⁷¹⁸,Raymond Lucy¹⁶,Kurian Manju A.⁷,Klein Christine²,Fung Victor S.C.¹⁹

Affiliation:

1. Movement Disorders Unit, Department of NeurologyWestmead HospitalSydney Australia

2. Institute of NeurogeneticsUniversity of LübeckLübeck Germany

3. TY Nelson Department of Neurology and NeurosurgeryChildren's Hospital at WestmeadWestmead Australia

4. University of SydneySydney Australia

5. Department of NeurologyBirmingham Children's HospitalBirmingham United Kingdom

6. College of Medical and Dental StudiesUniversity of BirminghamBirmingham United Kingdom

7. Molecular Neurosciences, Developmental Neurosciences Program, Institute of Child HealthUniversity College LondonLondon United Kingdom

8. Department of Child Neurology, Sant Joan de Déu HospitalUniversity of Barcelona Spain

9. Sydney Medical SchoolUniversity of Sydney Australia

10. Hunter GeneticsJohn Hunter HospitalNewcastle Australia

11. Genetics of Learning Disability ServiceNewcastle Australia

12. Sydney Children's Hospitals NetworkRandwick Australia

13. Department of Medical GeneticsSydney Children's HospitalRandwick Australia

14. Neurology DepartmentGosford HospitalGosford Australia

15. Neurology DepartmentSt George HospitalKogarah Australia

16. Department of Medical Genetics, Cambridge Institute for Medical ResearchUniversity of CambridgeCambridge United Kingdom

17. Department of HaematologyUniversity of Cambridge, NHS Blood and Transplant CenterCambridge United Kingdom

18. Wellcome Trust Sanger InstituteHinxton Cambridge United Kingdom

Funder

Wellcome Trust

Publisher

Wiley

Subject

Neurology (clinical),Neurology

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/mds.26598

Reference46 articles.

1. Familial dyskinesia and facial myokymia (FDFM): A novel movement disorder

2. Autosomal Dominant Familial Dyskinesia and Facial Myokymia

3. Gain-of-functionADCY5mutations in familial dyskinesia with facial myokymia

4. A de novo ADCY5 mutation causes early‐onset autosomal dominant chorea and dystonia

5. ADCY5mutations are another cause of benign hereditary chorea

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