(Q36661277)

15 August 2017

Magnetic resonance imaging pattern recognition in hypomyelinating disorders (English)

1 reference

15 August 2017

1 reference

Adeline Vanderver

2

0 references

Alberto Bizzi

object named as

Alberto Bizzi

4

0 references

Nicole I Wolf

object named as

Nicole I Wolf

9

0 references

Frederik Barkhof

8

object named as

Frederik Barkhof

1 reference

15 August 2017

Marjan E Steenweg

1

1 reference

15 August 2017

Susan Blaser

3

1 reference

15 August 2017

Tom J de Koning

5

1 reference

15 August 2017

Grazia M S Mancini

6

1 reference

15 August 2017

Wessel N van Wieringen

7

1 reference

15 August 2017

Marjo S van der Knaap

10

1 reference

15 August 2017

language of work or name

English

0 references

publication date

1 October 2010

1 reference

15 August 2017

1 reference

15 August 2017

133

1 reference

15 August 2017

10

1 reference

15 August 2017

2971-2982

1 reference

Hereditary spastic paraplegia is a novel phenotype for GJA12/GJC2 mutations

15 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3589901

Hypomyelination and congenital cataract: neuroimaging features of a novel inherited white matter disorder

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3589901

Decreased T2 signal in the thalami may be a sign of lysosomal storage disease

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3589901

Peripheral and central hypomyelination with hypogonadotropic hypogonadism and hypodontia

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3589901

A novel deletion in the GJA12 gene causes Pelizaeus-Merzbacher-like disease

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3589901

Frameshift mutation in GJA12 leading to nystagmus, spastic ataxia and CNS dys-/demyelination

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3589901

Deficiency of hyccin, a newly identified membrane protein, causes hypomyelination and congenital cataract

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3589901

Clinical features of adult GM1 gangliosidosis: report of three Indian patients and review of 40 cases.

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3589901

Mutations in the gene encoding gap junction protein alpha 12 (connexin 46.6) cause Pelizaeus-Merzbacher-like disease

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3589901

Neurological manifestations of the oculodentodigital dysplasia syndrome

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3589901

Concepts of myelin and myelination in neuroradiology.

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3589901

Myelin deficiencies in both the central and the peripheral nervous systems associated with a SOX10 mutation

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3589901

SOX10 mutations in patients with Waardenburg-Hirschsprung disease

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3589901

3-Phosphoglycerate dehydrogenase deficiency: an inborn error of serine biosynthesis

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3589901

The Tay syndrome (congenital ichthyosis with trichothiodystrophy).

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3589901

Cockayne syndrome: magnetic resonance images of the brain in a severe form with early onset

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3589901

Pelizaeus-Merzbacher disease: an X-linked neurologic disorder of myelin metabolism with a novel mutation in the gene encoding proteolipid protein

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3589901

Mutation of the proteolipid protein gene PLP in a human X chromosome-linked myelin disorder

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3589901

Sialic acid storage diseases. A multiple lysosomal transport defect for acidic monosaccharides

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3589901

Oculodentodigital dysplasia syndrome associated with abnormal cerebral white matter

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3589901

Biochemistry and Genetics of gangliosidoses

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3589901

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

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3589901

Leukoencephalopathy with ataxia, hypodontia, and hypomyelination.

28 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3589901

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

28 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3589901

Hypomyelination and reversible white matter attenuation in 3-phosphoglycerate dehydrogenase deficiency

28 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3589901

Myelination arrest demonstrated using magnetic resonance imaging in a child with type I GM1 gangliosidosis.

28 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3589901

The central nervous system in Tay syndrome.

28 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3589901

White matter changes associated with deletions of the long arm of chromosome 18 (18q- syndrome): a dysmyelinating disorder?

28 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3589901

GM-2 gangliosidosis (Sandhoff's disease): two year follow-up by MRI.

28 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3589901

Normal maturation of the neonatal and infant brain: MR imaging at 1.5 T.

28 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3589901

Neurologic manifestations in 18q- syndrome

28 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3589901

Tay-Sachs disease: progression of changes on neuroimaging in four cases

28 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3589901

MR imaging findings in 2 cases of late infantile GM1 gangliosidosis

28 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3589901

Severe hypomyelination as the leading neuroradiological sign in a patient with fucosidosis

20 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3589901

Phenotypic characterization of hypomyelination and congenital cataract.

20 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3589901

GJA12 mutations in children with recessive hypomyelinating leukoencephalopathy

20 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3589901

MR imaging and proton spectroscopy of neuronal injury in late-onset GM2 gangliosidosis

20 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3589901

MR brain imaging of fucosidosis type I.

20 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3589901

A case of chronic infantile type of fucosidosis: clinical and magnetic resonance image findings.

20 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3589901

Brain involvement in Salla disease.

20 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3589901

Magnetic resonance imaging demonstrates incomplete myelination in 18q- syndrome: evidence for myelin basic protein haploinsufficiency

20 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3589901

Neuroradiologic findings in fucosidosis, a rare lysosomal storage disease.

20 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3589901

Defining and categorizing leukoencephalopathies of unknown origin: MR imaging approach

20 September 2018

1 reference

12 December 2020

Infantile form GM1 gangliosidosis with dilated cardiomyopathy: a case report

1 reference

12 December 2020

Congenital hypomyelinating neuropathy, central dysmyelination, and Waardenburg-Hirschsprung disease: phenotypes linked by SOX10 mutation

1 reference

12 December 2020

Mucopolysaccharidosis by absence of alpha-fucosidase

1 reference

12 December 2020

MR findings in Tay-Sachs disease

1 reference

12 December 2020

Identifiers

DOI

10.1093/BRAIN/AWQ257

1 reference

15 August 2017

1 reference

15 August 2017

PubMed publication ID

20881161

1 reference