Familial cortical myoclonus with a mutation in NOL3. (Q36200469)

12 August 2017

Familial cortical myoclonus with a mutation in NOL3. (English)

1 reference

familial cortical myoclonus

12 August 2017

1 reference

16

Scott C Baraban

1 reference

12 August 2017

18

Daniel H Geschwind

1 reference

12 August 2017

Jonathan F Russell

1

1 reference

12 August 2017

Jamie L Steckley

2

1 reference

12 August 2017

Giovanni Coppola

3

1 reference

12 August 2017

Angelika F G Hahn

4

1 reference

12 August 2017

MacKenzie A Howard

5

1 reference

12 August 2017

Zachary Kornberg

6

1 reference

12 August 2017

Alden Huang

7

1 reference

12 August 2017

Seyed M Mirsattari

8

1 reference

12 August 2017

Barry Merriman

9

1 reference

12 August 2017

Eric Klein

10

1 reference

12 August 2017

Murim Choi

11

1 reference

12 August 2017

Hsien-Yang Lee

12

1 reference

12 August 2017

Andrew Kirk

13

1 reference

12 August 2017

Carol Nelson-Williams

14

1 reference

12 August 2017

Gillian Gibson

15

1 reference

12 August 2017

Richard P Lifton

17

1 reference

12 August 2017

Ying-Hui Fu

19

1 reference

12 August 2017

Louis J Ptáček

20

1 reference

12 August 2017

1 August 2012

1 reference

12 August 2017

1 reference

12 August 2017

72

1 reference

12 August 2017

2

1 reference

12 August 2017

175-183

1 reference

Discovery of common Asian copy number variants using integrated high-resolution array CGH and massively parallel DNA sequencing

12 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3431191

Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis

1 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3431191

Genetic diagnosis by whole exome capture and massively parallel DNA sequencing

1 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3431191

Solution hybrid selection with ultra-long oligonucleotides for massively parallel targeted sequencing

1 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3431191

SNP genotyping using the Sequenom MassARRAY iPLEX platform

1 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3431191

Novel cardiac apoptotic pathway: the dephosphorylation of apoptosis repressor with caspase recruitment domain by calcineurin

1 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3431191

Electrophysiological features of myoclonus-dystonia

1 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3431191

Genome-wide linkage analysis of a Parkinsonian-pyramidal syndrome pedigree by 500 K SNP arrays

1 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3431191

Apoptosis repressor with caspase recruitment domain is required for cardioprotection in response to biomechanical and ischemic stress

1 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3431191

Familial adult myoclonic epilepsy (FAME).

1 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3431191

Myoclonus: current concepts and recent advances.

1 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3431191

A novel locus for inherited myoclonus-dystonia on 18p11.

1 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3431191

Phosphorylation by protein kinase CK2: a signaling switch for the caspase-inhibiting protein ARC

1 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3431191

Alteration of caspases and apoptosis-related proteins in brains of patients with Alzheimer's disease.

1 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3431191

Solution structure of Apaf-1 CARD and its interaction with caspase-9 CARD: a structural basis for specific adaptor/caspase interaction

1 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3431191

Solution structure of the RAIDD CARD and model for CARD/CARD interaction in caspase-2 and caspase-9 recruitment

1 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3431191

ARC, an inhibitor of apoptosis expressed in skeletal muscle and heart that interacts selectively with caspases

1 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3431191

Lifelong caloric restriction increases expression of apoptosis repressor with a caspase recruitment domain (ARC) in the brain.

1 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3431191

Autosomal dominant cortical tremor, myoclonus and epilepsy: many syndromes, one phenotype.

2 July 2018

1 reference

Familial cortical myoclonic tremor with epilepsy: the third locus (FCMTE3) maps to 5p.

21 January 2018

1 reference

Phosphorylation of ARC is a critical element in the antiapoptotic effect of anesthetic preconditioning.

21 January 2018

1 reference

A neurophysiological study of myoclonus in patients with DYT11 myoclonus-dystonia syndrome.

21 January 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3431191

Alteration of caspases and other apoptosis regulatory proteins in Down syndrome

22 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3431191

Classification of progressive myoclonus epilepsies and related disorders

22 September 2018

1 reference

Electrophysiological studies of myoclonus

21 January 2018

1 reference

12 December 2020

Genetic localization of the familial adult myoclonic epilepsy (FAME) gene to chromosome 8q24

1 reference

12 December 2020

Myoclonus–dystonia syndrome: Clinical presentation, disease course, and genetic features in 11 families

1 reference

12 December 2020

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

1 reference

12 December 2020

Physiological abnormalities in hereditary hyperekplexia

1 reference

12 December 2020

Identifiers

DOI

10.1002/ANA.23666

1 reference

12 August 2017

1 reference

12 August 2017

1 reference