(Q42518509)

1 November 2017

title

Rapid disease progression in adult-onset mitochondrial membrane protein-associated neurodegeneration (English)

1 reference

neurodegeneration with brain iron accumulation 4

1 November 2017

1 reference

0 references

1 reference

7

C Paisán-Ruiz

0 references

author name string

O Dogu

1

1 reference

1 November 2017

C E Krebs

2

1 reference

1 November 2017

H Kaleagasi

3

1 reference

1 November 2017

Z Demirtas

4

1 reference

1 November 2017

N Oksuz

5

1 reference

1 November 2017

R H Walker

6

1 reference

1 November 2017

publication date

21 January 2013

1 reference

1 November 2017

1 reference

1 November 2017

volume

84

1 reference

1 November 2017

issue

4

1 reference

1 November 2017

page(s)

350-355

1 reference

Mutation in the gene encoding ferritin light polypeptide causes dominant adult-onset basal ganglia disease

1 November 2017

cites work

1 reference

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

21 January 2018

1 reference

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

21 January 2018

1 reference

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

21 January 2018

1 reference

A novel pantothenate kinase gene (PANK2) is defective in Hallervorden-Spatz syndrome

21 January 2018

1 reference

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

21 January 2018

1 reference

Aceruloplasminemia: molecular characterization of this disorder of iron metabolism

21 January 2018

1 reference

Recessively inherited parkinsonism: effect of ATP13A2 mutations on the clinical and neuroimaging phenotype

21 January 2018

1 reference

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

21 January 2018

1 reference

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

21 January 2018

1 reference

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

21 January 2018

1 reference

Characterization of PLA2G6 as a locus for dystonia-parkinsonism

21 January 2018

1 reference

PLINK: a tool set for whole-genome association and population-based linkage analyses

21 January 2018

1 reference

Application of genome-wide single nucleotide polymorphism typing: simple association and beyond

21 January 2018

1 reference

Genetics of neurodegeneration with brain iron accumulation

21 January 2018

1 reference

The use of next-generation sequencing in movement disorders

21 January 2018

1 reference

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

21 January 2018

1 reference

Iron dysregulation in movement disorders

21 January 2018

1 reference

Brain, blood, and iron: perspectives on the roles of erythrocytes and iron in neurodegeneration

21 January 2018

1 reference

21 January 2018

Identifiers

DOI

10.1111/CGE.12079

1 reference

1 November 2017

1 reference