(Q35575559)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24361204%20AND%20SRC:MED&resulttype=core&format=json

3 March 2020

title

C19orf12 mutation leads to a pallido-pyramidal syndrome (English)

1 reference

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3 March 2020

2

1 reference

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3 March 2020

Fowzan S Alkuraya

11

1 reference

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3 March 2020

3

Catherine Mooney

1 reference

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3 March 2020

author name string

Michael C Kruer

1

1 reference

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3 March 2020

Jawahir Alzahrani

4

1 reference

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3 March 2020

Salah A Elmalik

5

1 reference

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3 March 2020

Mohammad M Kabiraj

6

1 reference

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3 March 2020

Arif O Khan

7

1 reference

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3 March 2020

Reema Paudel

8

1 reference

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3 March 2020

Henry Houlden

9

1 reference

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3 March 2020

Hamid Azzedine

10

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24361204%20AND%20SRC:MED&resulttype=core&format=json

3 March 2020

language of work or name

English

0 references

publication date

17 December 2013

1 reference

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3 March 2020

1 reference

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3 March 2020

volume

537

1 reference

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3 March 2020

issue

2

1 reference

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3 March 2020

page(s)

352-356

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24361204%20AND%20SRC:MED&resulttype=core&format=json

C19orf12 and FA2H mutations are rare in Italian patients with neurodegeneration with brain iron accumulation.

3 March 2020

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4422067

Neurodegeneration with brain iron accumulation: a diagnostic algorithm

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4422067

C19orf12 mutations in neurodegeneration with brain iron accumulation mimicking juvenile amyotrophic lateral sclerosis

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4422067

The Pfam protein families database

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4422067

Prediction of short linear protein binding regions

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4422067

SMART 7: recent updates to the protein domain annotation resource

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4422067

Absence of an orphan mitochondrial protein, c19orf12, causes a distinct clinical subtype of neurodegeneration with brain iron accumulation

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4422067

The MEMPACK alpha-helical transmembrane protein structure prediction server

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4422067

Early-onset L-dopa-responsive parkinsonism with pyramidal signs due to ATP13A2, PLA2G6, FBXO7 and spatacsin mutations

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4422067

Distill: a suite of web servers for the prediction of one-, two- and three-dimensional structural features of proteins.

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4422067

Interactive visual analysis of SNP data for rapid autozygosity mapping in consanguineous families

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4422067

PLA2G6, encoding a phospholipase A2, is mutated in neurodegenerative disorders with high brain iron

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4422067

Transmembrane glycine zippers: physiological and pathological roles in membrane proteins

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4422067

IUPred: web server for the prediction of intrinsically unstructured regions of proteins based on estimated energy content

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4422067

The PredictProtein server

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4422067

Karak syndrome: a novel degenerative disorder of the basal ganglia and cerebellum

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4422067

Predicting transmembrane protein topology with a hidden Markov model: application to complete genomes

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4422067

PANK2 and C19orf12 mutations are common causes of neurodegeneration with brain iron accumulation.

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4422067

A new phenotype of brain iron accumulation with dystonia, optic atrophy, and peripheral neuropathy.

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4422067

ATP13A2 mutations (PARK9) cause neurodegeneration with brain iron accumulation

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4422067

Best alpha-helical transmembrane protein topology predictions are achieved using hidden Markov models and evolutionary information

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4422067

10.1016/J.GENE.2013.11.039

26 September 2018

Identifiers

DOI

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24361204%20AND%20SRC:MED&resulttype=core&format=json

3 March 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24361204%20AND%20SRC:MED&resulttype=core&format=json

3 March 2020

PubMed publication ID

24361204

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24361204%20AND%20SRC:MED&resulttype=core&format=json