New NBIA subtype: genetic, clinical, pathologic, and radiographic features of MPAN. (Q36659362)

15 August 2017

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

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15 August 2017

20

Randall L Woltjer

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15 August 2017

Penelope Hogarth

1

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15 August 2017

Allison Gregory

2

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15 August 2017

Michael C Kruer

3

1 reference

15 August 2017

Lynn Sanford

4

1 reference

15 August 2017

Wendy Wagoner

5

1 reference

15 August 2017

Marvin R Natowicz

6

1 reference

15 August 2017

Robert T Egel

7

1 reference

15 August 2017

S H Subramony

8

1 reference

15 August 2017

Jennifer G Goldman

9

1 reference

15 August 2017

Elizabeth Berry-Kravis

10

1 reference

15 August 2017

Nicola C Foulds

11

1 reference

15 August 2017

Simon R Hammans

12

1 reference

15 August 2017

Isabelle Desguerre

13

1 reference

15 August 2017

Diana Rodriguez

14

1 reference

15 August 2017

Callum Wilson

15

1 reference

15 August 2017

Andrea Diedrich

16

1 reference

15 August 2017

Sarah Green

17

1 reference

15 August 2017

Huong Tran

18

1 reference

15 August 2017

Lindsay Reese

19

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15 August 2017

Susan J Hayflick

21

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15 August 2017

language of work or name

English

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publication date

26 December 2012

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15 August 2017

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15 August 2017

80

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15 August 2017

268-275

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15 August 2017

3

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Distinct roles in vivo for the ubiquitin-proteasome system and the autophagy-lysosomal pathway in the degradation of α-synuclein

15 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3589182

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

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3589182

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

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3589182

A method and server for predicting damaging missense mutations

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3589182

Phenotypic spectrum of neurodegeneration associated with mutations in the PLA2G6 gene (PLAN).

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3589182

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

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3589182

SIFT: Predicting amino acid changes that affect protein function

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3589182

Genetic, clinical, and radiographic delineation of Hallervorden-Spatz syndrome

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3589182

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

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3589182

28 June 2018

Eye-of-the-tiger sign

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/23269600

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1212/WNL.0B013E31827E07BE

1 reference

15 August 2017

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15 August 2017

1 reference