PANK2 and C19orf12 mutations are common causes of neurodegeneration with brain iron accumulation. (Q43503198)

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18 February 2020

title

PANK2 and C19orf12 mutations are common causes of neurodegeneration with brain iron accumulation (English)

1 reference

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neurodegeneration with brain iron accumulation

18 February 2020

main subject

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1 reference

2

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18 February 2020

author name string

Mitra Ansari Dezfouli

1

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18 February 2020

Mohammad Rohani

3

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18 February 2020

Mohamad Rezvani

4

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18 February 2020

Tayebeh Nekuie

5

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18 February 2020

Brandy Klotzle

6

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18 February 2020

Seyed Hasan Tonekaboni

7

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18 February 2020

Gholam Ali Shahidi

8

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18 February 2020

Elahe Elahi

9

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18 February 2020

language of work or name

English

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publication date

19 November 2012

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18 February 2020

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18 February 2020

volume

28

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18 February 2020

issue

2

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18 February 2020

page(s)

228-232

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Hallervorden-Spatz Syndrome and Brain Iron Metabolism

18 February 2020

cites work

1 reference

Unraveling the Hallervorden-Spatz syndrome: pantothenate kinase-associated neurodegeneration is the name

21 January 2018

1 reference

Syndromes of neurodegeneration with brain iron accumulation (NBIA): an update on clinical presentations, histological and genetic underpinnings, and treatment considerations

21 January 2018

1 reference

Genetics of neurodegeneration with brain iron accumulation

21 January 2018

1 reference

Hallervorden-Spatz syndrome: clinical and magnetic resonance imaging correlations

21 January 2018

1 reference

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

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

Clinical features and natural history of neuroferritinopathy caused by the FTL1 460InsA mutation

21 January 2018

1 reference

The neurological presentation of ceruloplasmin gene mutations

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

Pantothenate kinase 2 mutation with classic pantothenate-kinase-associated neurodegeneration without 'eye-of-the-tiger' sign on MRI in a pair of siblings

21 January 2018

1 reference

Genetic heterogeneity in patients with pantothenate kinase-associated neurodegeneration and classic magnetic resonance imaging eye-of-the-tiger pattern.

21 January 2018

1 reference

The eye-of-the-tiger sign is not a reliable disease marker for Hallervorden-Spatz syndrome

21 January 2018

1 reference

Genotypic and phenotypic spectrum of PANK2 mutations in patients with neurodegeneration with brain iron accumulation

21 January 2018

1 reference

An isoform of hPANK2, deficient in pantothenate kinase-associated neurodegeneration, localizes to mitochondria

21 January 2018

1 reference

Altered neuronal mitochondrial coenzyme A synthesis in neurodegeneration with brain iron accumulation caused by abnormal processing, stability, and catalytic activity of mutant pantothenate kinase 2

21 January 2018

1 reference

A method and server for predicting damaging missense mutations

21 January 2018

1 reference

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

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

21 January 2018

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