(Q36802579)

16 August 2017

De Novo Mutations in PDE10A Cause Childhood-Onset Chorea with Bilateral Striatal Lesions (English)

1 reference

16 August 2017

0 references

1 reference

Liana Veneziano

14

0 references

Joanne Ng

Joanne Ng

12

0 references

Vincenzo Salpietro

Vincenzo Salpietro

23

0 references

Paola Giunti

Paola Giunti

15

0 references

Barbara Garavaglia

Barbara Garavaglia

22

0 references

Nicholas W. Wood

Nicholas W Wood

30

0 references

Alan Pittman

Alan M Pittman

25

0 references

John Anthony Hardy

24

John Hardy

1 reference

Kailash Phatechand Bhatia

16 August 2017

31

Kailash P Bhatia

1 reference

16 August 2017

6

Bettina Balint

1 reference

16 August 2017

9

Sarah Wiethoff

1 reference

16 August 2017

29

Lisenka E L M Vissers

1 reference

16 August 2017

Niccolò E Mencacci

1

1 reference

16 August 2017

Erik-Jan Kamsteeg

2

1 reference

16 August 2017

Kosuke Nakashima

3

1 reference

16 August 2017

Lea R'Bibo

4

1 reference

16 August 2017

David S Lynch

5

1 reference

16 August 2017

Michèl A A P Willemsen

7

1 reference

16 August 2017

Matthew E Adams

8

1 reference

16 August 2017

Kazunori Suzuki

10

1 reference

16 August 2017

Ceri H Davies

11

1 reference

16 August 2017

Esther Meyer

13

1 reference

16 August 2017

Deborah Hughes

16

1 reference

16 August 2017

F Lucy Raymond

17

1 reference

16 August 2017

Miryam Carecchio

18

1 reference

16 August 2017

Giovanna Zorzi

19

1 reference

16 August 2017

Nardo Nardocci

20

1 reference

16 August 2017

Chiara Barzaghi

21

1 reference

16 August 2017

Henry Houlden

26

1 reference

16 August 2017

Manju A Kurian

27

1 reference

16 August 2017

Haruhide Kimura

28

1 reference

16 August 2017

language of work or name

English

0 references

publication date

1 April 2016

1 reference

American Journal of Human Genetics

16 August 2017

1 reference

16 August 2017

98

1 reference

16 August 2017

4

1 reference

16 August 2017

763-771

1 reference

The clinical and genetic heterogeneity of paroxysmal dyskinesias

16 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4833291

Loss of phosphodiesterase 10A expression is associated with progression and severity in Parkinson's disease

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4833291

Benign Hereditary Chorea: An Update

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4833291

ADCY5 mutations are another cause of benign hereditary chorea

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4833291

A missense mutation in KCTD17 causes autosomal dominant myoclonus-dystonia

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4833291

Phosphodiesterase 10A Is Tethered to a Synaptic Signaling Complex in Striatum

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4833291

Diagnosis and treatment of chorea syndromes

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4833291

The contribution of de novo coding mutations to autism spectrum disorder

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4833291

Structure, mechanism, and regulation of soluble adenylyl cyclases - similarities and differences to transmembrane adenylyl cyclases

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4833291

A framework for the interpretation of de novo mutation in human disease

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4833291

Whole-genome sequence variation, population structure and demographic history of the Dutch population

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4833291

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

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4833291

Review: Modulation of striatal neuron activity by cyclic nucleotide signaling and phosphodiesterase inhibition

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4833291

A general framework for estimating the relative pathogenicity of human genetic variants

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4833291

Genetics of Parkinson's disease: the yield

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4833291

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4833291

Genic intolerance to functional variation and the interpretation of personal genomes

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4833291

Spatial and temporal mapping of de novo mutations in schizophrenia to a fetal prefrontal cortical network

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4833291

Mutations in GNAL cause primary torsion dystonia

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4833291

Phosphodiesterases in neurodegenerative disorders

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4833291

De novo gene mutations highlight patterns of genetic and neural complexity in schizophrenia.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4833291

Range of genetic mutations associated with severe non-syndromic sporadic intellectual disability: an exome sequencing study

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4833291

Striatal microcircuitry and movement disorders

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4833291

Current landscape of phosphodiesterase 10A (PDE10A) inhibition

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4833291

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

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4833291

Activation of PDE10 and PDE11 phosphodiesterases

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4833291

Fast, scalable generation of high-quality protein multiple sequence alignments using Clustal Omega

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4833291

Quality control parameters on a large dataset of regionally dissected human control brains for whole genome expression studies

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4833291

ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4833291

Autosomal-dominant striatal degeneration is caused by a mutation in the phosphodiesterase 8B gene

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4833291

Cyclic nucleotide binding GAF domains from phosphodiesterases: structural and mechanistic insights

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4833291

Mechanism for the allosteric regulation of phosphodiesterase 2A deduced from the X-ray structure of a near full-length construct

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4833291

Binding of cyclic nucleotides to phosphodiesterase 10A and 11A GAF domains does not stimulate catalytic activity

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4833291

Crystal structure of the GAF-B domain from human phosphodiesterase 10A complexed with its ligand, cAMP

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4833291

Genome-wide atlas of gene expression in the adult mouse brain

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4833291

Cyclic nucleotide phosphodiesterases: molecular regulation to clinical use

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4833291

cAMP is a ligand for the tandem GAF domain of human phosphodiesterase 10 and cGMP for the tandem GAF domain of phosphodiesterase 11

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4833291

Impaired D2 dopamine receptor function in mice lacking type 5 adenylyl cyclase

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4833291

Regulation of cAMP and cGMP signaling: new phosphodiesterases and new functions

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4833291

Striatum- and testis-specific phosphodiesterase PDE10A isolation and characterization of a rat PDE10A

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4833291

The Pathophysiology of Movement Disorders

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4833291

Guanylyl cyclases, a growing family of signal‐transducing enzymes

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4833291

Diagnostic exome sequencing in persons with severe intellectual disability

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4833291

Identification of a specific assembly of the g protein golf as a critical and regulated module of dopamine and adenosine-activated cAMP pathways in the striatum

5 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4833291

Quantitative comparison of phosphodiesterase mRNA distribution in human brain and peripheral tissues

5 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4833291

Immunohistochemical localization of phosphodiesterase 10A in multiple mammalian species.

5 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4833291

Cyclic nucleotide research -- still expanding after half a century

5 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4833291

Familial striatal degeneration: New mutation and neuroimaging clues

5 September 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/27058447

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Analysis of protein-coding genetic variation in 60,706 humans

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/27058447

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1016/J.AJHG.2016.02.015

1 reference

16 August 2017

1 reference

16 August 2017

PubMed publication ID

27058447

1 reference