Defective FA2H leads to a novel form of neurodegeneration with brain iron accumulation (NBIA). (Q51899563)

17 April 2018

title

Defective FA2H leads to a novel form of neurodegeneration with brain iron accumulation (NBIA). (English)

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17 April 2018

neurodegeneration with brain iron accumulation

main subject

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9

Arnold Munnich

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14

John Hardy

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2

Coro Paisán-Ruiz

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Randall L Woltjer

8

object named as

Randall L Woltjer

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17 April 2018

author name string

Michael C Kruer

1

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17 April 2018

Nathalie Boddaert

3

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Moon Y Yoon

4

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Hiroko Hama

5

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Allison Gregory

6

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Alessandro Malandrini

7

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Stephanie Gobin

10

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Brenda J Polster

11

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Silvia Palmeri

12

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17 April 2018

Simon Edvardson

13

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Henry Houlden

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Susan J Hayflick

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publication date

1 November 2010

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17 April 2018

published in

Annals of Neurology

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volume

68

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17 April 2018

issue

5

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page(s)

611-618

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ATP13A2 mutations (PARK9) cause neurodegeneration with brain iron accumulation

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Clinical and genetic delineation of neurodegeneration with brain iron accumulation

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Absence of 2-hydroxylated sphingolipids is compatible with normal neural development but causes late-onset axon and myelin sheath degeneration

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25 August 2018

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25 August 2018

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25 August 2018

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The human FA2H gene encodes a fatty acid 2-hydroxylase

25 August 2018

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25 August 2018

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25 August 2018

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25 August 2018

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25 August 2018

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25 August 2018

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25 August 2018

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25 August 2018

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25 August 2018

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Sea-blue histiocytes, lymphocytic cytosomes, movement disorder and 59Fe-uptake in basal ganglia: Hallervorden-Spatz disease or ceroid storage disease with abnormal isotope scan?

25 August 2018

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25 August 2018

Identifiers

DOI

10.1002/ANA.22122

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17 April 2018

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17 April 2018