Phenotypic insights into ADCY5-associated disease. (Q37106361)

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1 April 2020

title

Phenotypic insights into ADCY5-associated disease (English)

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BELEN PEREZ DUEÑAS

6

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Matthew Hunter

11

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John A Lawson

12

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Detelina Grozeva

20

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Keren J Carss

21

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Christine Klein

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3

Russell C Dale

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author name string

Florence C F Chang

1

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Martin Smith

4

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Hardev S Pall

5

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Padraic Grattan-Smith

7

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Robert A Ouvrier

8

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Neil Mahant

9

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Bernadette C Hanna

10

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Christoph Max

13

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Rani Sachdev

14

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Esther Meyer

15

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Dennis Crimmins

16

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Donald Pryor

17

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John G L Morris

18

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Alex Münchau

19

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Lucy Raymond

22

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Manju A Kurian

23

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Victor S C Fung

25

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language of work or name

English

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publication date

8 April 2016

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27061943 AND SRC:MED&resulttype=core&format=json

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volume

31

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issue

7

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page(s)

1033-1040

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ADCY5 mutation carriers display pleiotropic paroxysmal day and nighttime dyskinesias

1 April 2020

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14 September 2017

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ADCY5 mutations are another cause of benign hereditary chorea

14 September 2017

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Paroxysmal movement disorders

14 September 2017

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4-Phenylbutyrate attenuates the ER stress response and cyclic AMP accumulation in DYT1 dystonia cell models

14 September 2017

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Gain-of-function ADCY5 mutations in familial dyskinesia with facial myokymia

14 September 2017

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Autosomal dominant familial dyskinesia and facial myokymia: single exome sequencing identifies a mutation in adenylyl cyclase 5.

14 September 2017

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MutationTaster evaluates disease-causing potential of sequence alterations

14 September 2017

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A method and server for predicting damaging missense mutations

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Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm

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Clinical differentiation of genetically proven benign hereditary chorea and myoclonus-dystonia

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14 September 2017

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Clinical and genetic features of myoclonus-dystonia in 3 cases: a video presentation

14 September 2017

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Mutations in TITF-1 are associated with benign hereditary chorea

14 September 2017

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14 September 2017

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14 September 2017

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29 September 2017

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PK 11195 blockade of benzodiazepine-induced inhibition of forskolin-stimulated adenylate cyclase activity in the striatum

27 June 2018

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27 June 2018

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27 June 2018

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27 June 2018

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Inhibition of rat brain adenylate cyclase activity by benzodiazepine through the effects on Gi and catalytic proteins.

27 June 2018

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27 June 2018

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27 June 2018

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27 June 2018

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3 September 2018

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3 September 2018

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3 September 2018

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3 September 2018

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3 September 2018

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Crossref

https://api.crossref.org/works/10.1002/MDS.26598

Hypnogenic paroxysmal dystonia: epileptic seizure or a new syndrome?

21 January 2018

1 reference

12 December 2020

Athetosis II: the syndrome of mild athetoid cerebral palsy

1 reference

12 December 2020

Myoclonus-dystonia: Clinical and electrophysiologic pattern related to SGCE mutations

1 reference

12 December 2020

A de novo ADCY5 mutation causes early-onset autosomal dominant chorea and dystonia

1 reference

12 December 2020

Identifiers

DOI

10.1002/MDS.26598

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27061943 AND SRC:MED&resulttype=core&format=json

1 April 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27061943 AND SRC:MED&resulttype=core&format=json

1 April 2020

PubMed publication ID

27061943

1 reference