(Q35328823)

7 August 2017

1 reference

title

A clinical approach to the diagnosis of patients with leukodystrophies and genetic leukoencephelopathies (English)

1 reference

7 August 2017

2

Geneviève Bernard

1 reference

7 August 2017

14

Adeline Vanderver

1 reference

7 August 2017

Guy Helman

8

0 references

Cas Simons

object named as

Cas Simons

9

0 references

Marc C. Patterson

object named as

Marc C Patterson

12

0 references

author name string

Sumit Parikh

1

1 reference

7 August 2017

Richard J Leventer

3

1 reference

7 August 2017

Marjo S van der Knaap

4

1 reference

7 August 2017

Johan van Hove

5

1 reference

7 August 2017

Amy Pizzino

6

1 reference

7 August 2017

Nathan H McNeill

7

1 reference

7 August 2017

Johanna L Schmidt

10

1 reference

7 August 2017

William B Rizzo

11

1 reference

7 August 2017

Ryan J Taft

13

1 reference

7 August 2017

GLIA Consortium

15

1 reference

7 August 2017

publication date

29 December 2014

1 reference

Molecular Genetics and Metabolism

7 August 2017

published in

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7 August 2017

volume

114

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7 August 2017

issue

4

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7 August 2017

page(s)

501-515

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Case definition and classification of leukodystrophies and leukoencephalopathies

7 August 2017

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4390485

Exome sequencing in the clinical diagnosis of sporadic or familial cerebellar ataxia

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4390485

Clinical whole-exome sequencing for the diagnosis of mendelian disorders

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4390485

ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4390485

Relative incidence of inherited white matter disorders in childhood to acquired pediatric demyelinating disorders

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4390485

Novel infantile-onset leukoencephalopathy with high lactate level and slow improvement.

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4390485

The National Institutes of Health Undiagnosed Diseases Program: insights into rare diseases

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4390485

Magnetic resonance imaging pattern recognition in hypomyelinating disorders

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4390485

The burden of inherited leukodystrophies in children

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4390485

Invited article: an MRI-based approach to the diagnosis of white matter disorders

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4390485

New syndrome characterized by hypomyelination with atrophy of the basal ganglia and cerebellum.

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4390485

Pattern recognition in magnetic resonance imaging of white matter disorders in children and young adults.

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4390485

Oculodentodigital dysplasia. Four new reports and a literature review

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4390485

Clinical whole exome sequencing in child neurology practice.

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4390485

Neurological outcome in cerebrotendinous xanthomatosis treated with chenodeoxycholic acid: early versus late diagnosis

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4390485

Novel hypomyelinating leukoencephalopathy affecting early myelinating structures.

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4390485

Autosomal dominant diffuse leukoencephalopathy with neuroaxonal spheroids.

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4390485

Leukodystrophy incidence in Germany.

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4390485

A new leukoencephalopathy with vanishing white matter.

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4390485

Defining and categorizing leukoencephalopathies of unknown origin: MR imaging approach

26 September 2018

1 reference

Crossref

https://api.crossref.org/works/10.1016%2FJ.YMGME.2014.12.434

10.1016/J.YMGME.2014.12.434

7 January 2021

Identifiers

DOI

1 reference

7 August 2017

1 reference

7 August 2017

1 reference