(Q36904897)

17 August 2017

β-Propeller protein-associated neurodegeneration: a new X-linked dominant disorder with brain iron accumulation (English)

1 reference

17 August 2017

1 reference

36

1 reference

Kailash Phatechand Bhatia

17 August 2017

30

Kailash Bhatia

1 reference

17 August 2017

Barbara Garavaglia

29

0 references

Jean-Pierre Lin

Jean-Pierre Lin

25

0 references

Holger Prokisch

Holger Prokisch

37

0 references

Steven Frucht

Steven Frucht

18

0 references

Nathalie Boddaert

Nathalie Boddaert

8

0 references

John Anthony Hardy

35

John Hardy

1 reference

17 August 2017

15

Mark Tarnopolsky

1 reference

17 August 2017

22

Delphine Héron

1 reference

17 August 2017

4

Tobias B Haack

1 reference

17 August 2017

38

Penelope Hogarth

1 reference

17 August 2017

2

Michael C Kruer

1 reference

17 August 2017

3

Allison Gregory

1 reference

17 August 2017

27

Stephan M Cuno

1 reference

17 August 2017

10

Sami I Harik

1 reference

17 August 2017

11

Vasuki H Dandu

1 reference

17 August 2017

12

Nardo Nardocci

1 reference

17 August 2017

13

Giovanna Zorzi

1 reference

17 August 2017

14

Todd Dunaway

1 reference

17 August 2017

16

Steven Skinner

1 reference

17 August 2017

19

Era Hanspal

1 reference

17 August 2017

Connie Schrander-Stumpel

20

Connie Schrander-Stumpel

1 reference

17 August 2017

21

Cyril Mignot

1 reference

17 August 2017

5

Manju A Kurian

1 reference

17 August 2017

1

Susan J Hayflick

1 reference

17 August 2017

Henry H Houlden

6

1 reference

17 August 2017

James Anderson

7

1 reference

17 August 2017

Lynn Sanford

9

1 reference

17 August 2017

Kenton R Holden

17

1 reference

17 August 2017

Dawn E Saunders

23

1 reference

17 August 2017

Margaret Kaminska

24

1 reference

17 August 2017

Karine Lascelles

26

1 reference

17 August 2017

Esther Meyer

28

1 reference

17 August 2017

Rajith de Silva

31

1 reference

17 August 2017

Sarah Crisp

32

1 reference

17 August 2017

Peter Lunt

33

1 reference

17 August 2017

Martyn Carey

34

1 reference

17 August 2017

language of work or name

English

0 references

publication date

17 May 2013

1 reference

17 August 2017

1 reference

17 August 2017

136

1 reference

17 August 2017

Pt 6

1 reference

17 August 2017

1708-1717

1 reference

New NBIA subtype: genetic, clinical, pathologic, and radiographic features of MPAN.

17 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3673459

Exome sequencing reveals de novo WDR45 mutations causing a phenotypically distinct, X-linked dominant form of NBIA.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3673459

Autophagy impairment: a crossroad between neurodegeneration and tauopathies

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3673459

Neuroimaging features of neurodegeneration with brain iron accumulation.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3673459

Novel histopathologic findings in molecularly-confirmed pantothenate kinase-associated neurodegeneration

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3673459

Genetics of neurodegeneration with brain iron accumulation

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3673459

Network organization of the human autophagy system

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3673459

A method and server for predicting damaging missense mutations

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3673459

Neuromelanin activates microglia and induces degeneration of dopaminergic neurons: implications for progression of 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=3673459

Clinical and genetic delineation of neurodegeneration with brain iron accumulation

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3673459

Predicting the insurgence of human genetic diseases associated to single point protein mutations with support vector machines and evolutionary information

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3673459

Neuro-ophthalmologic and electroretinographic findings in pantothenate kinase-associated neurodegeneration (formerly Hallervorden-Spatz syndrome)

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3673459

SIFT: Predicting amino acid changes that affect protein function

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3673459

PMUT: a web-based tool for the annotation of pathological mutations on proteins.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3673459

Intracranial lesions with high signal intensity on T1-weighted MR images: differential diagnosis.

27 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3673459

Neuromelanin associated redox-active iron is increased in the substantia nigra of patients with Parkinson's disease.

4 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3673459

Paramagnetic metal scavenging by melanin: MR imaging

4 September 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/23687123

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

PANK2 mutation screening recommended to confirm diagnosis of pantothenate kinase-associated neurodegeneration

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/23687123

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1093/BRAIN/AWT095

1 reference

release_um4xhovoundt3bb2nk22z7ve3m

17 August 2017

1 reference

Fatcat

https://api.fatcat.wiki/v0/release/um4xhovoundt3bb2nk22z7ve3m

mapped directly with Wikidata item

24 November 2022

based on heuristic

1 reference

17 August 2017

1 reference