(Q48950175)

17 February 2018

title

Brain magnetic resonance imaging (MRI) pattern recognition in Pol III-related leukodystrophies. (English)

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17 February 2018

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2

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Adeline Vanderver

Adeline Vanderver

8

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Bernard Brais

6

Bernard Brais

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Geneviève Bernard

7

Genevieve Bernard

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17 February 2018

1

Roberta La Piana

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17 February 2018

Heather Gordish-Dressman

3

Heather Gordish Dressman

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17 February 2018

author name string

Johanna L Schmidt

4

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17 February 2018

Jonathan Murnick

5

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17 February 2018

publication date

7 October 2013

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17 February 2018

Journal of Child Neurology

published in

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17 February 2018

volume

29

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17 February 2018

issue

2

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17 February 2018

page(s)

214-220

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17 February 2018

The latest on leukodystrophies

cites work

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https://api.crossref.org/works/10.1177%2F0883073813503902

Magnetic resonance imaging pattern recognition in hypomyelinating disorders

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Leukoencephalopathy with ataxia, hypodontia, and hypomyelination.

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Ataxia, Delayed Dentition and Hypomyelination: A Novel Leukoencephalopathy

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Peripheral and central hypomyelination with hypogonadotropic hypogonadism and hypodontia

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Hypomyelination, hypogonadotropic hypogonadism, hypodontia - First Polish patient.

21 January 2018

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New case of 4H syndrome and a review of the literature

21 January 2018

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Tremor-ataxia with central hypomyelination (TACH) leukodystrophy maps to chromosome 10q22.3-10q23.31.

21 January 2018

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https://api.crossref.org/works/10.1177%2F0883073813503902

Mutations of POLR3A encoding a catalytic subunit of RNA polymerase Pol III cause a recessive hypomyelinating leukodystrophy

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F0883073813503902

Mutations in POLR3A and POLR3B encoding RNA Polymerase III subunits cause an autosomal-recessive hypomyelinating leukoencephalopathy

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F0883073813503902

Recessive mutations in POLR3B, encoding the second largest subunit of Pol III, cause a rare hypomyelinating leukodystrophy

21 January 2018

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Diffuse cerebral hypomyelination with cerebellar atrophy and hypoplasia of the corpus callosum.

21 January 2018

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Age distribution and iron dependency of the T2 relaxation time in the globus pallidus and putamen.

21 January 2018

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The Measurement of Observer Agreement for Categorical Data

21 January 2018

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Differential diagnosis of cerebellar atrophy in childhood

21 January 2018

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Neuroimaging in Cockayne syndrome.

21 January 2018

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Neurological manifestations of the oculodentodigital dysplasia syndrome

21 January 2018

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When should we remain blind and when should our eyes remain open in diagnostic studies?

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21 January 2018

Identifiers

DOI

10.1177/0883073813503902

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17 February 2018

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17 February 2018