(Q36118377)

12 August 2017

Novel POMGNT1 point mutations and intragenic rearrangements associated with muscle-eye-brain disease (English)

1 reference

ORCID Public Data File 2021

12 August 2017

muscle-eye-brain disease

1 reference

1 reference

author name string

S Saredi

1

1 reference

12 August 2017

A Ardissone

2

1 reference

12 August 2017

A Ruggieri

3

1 reference

12 August 2017

E Mottarelli

4

1 reference

12 August 2017

L Farina

5

1 reference

12 August 2017

R Rinaldi

6

1 reference

12 August 2017

E Silvestri

7

1 reference

12 August 2017

C Gandioli

8

1 reference

12 August 2017

S D'Arrigo

9

1 reference

12 August 2017

F Salerno

10

1 reference

12 August 2017

L Morandi

11

1 reference

12 August 2017

P Grammatico

12

1 reference

12 August 2017

C Pantaleoni

13

1 reference

12 August 2017

I Moroni

14

1 reference

12 August 2017

M Mora

15

1 reference

12 August 2017

language of work or name

1 reference

2 May 2012

1 reference

Journal of the Neurological Sciences

12 August 2017

6

1 reference

based on heuristic

inferred from page(s)

published in

1 reference

12 August 2017

318

1 reference

12 August 2017

1-2

1 reference

12 August 2017

45-50

1 reference

Muscular dystrophies due to glycosylation defects: diagnosis and therapeutic strategies

12 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3405532

A dystroglycan mutation associated with limb-girdle muscular dystrophy.

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3405532

Biochemical correlation of activity of the α-dystroglycan-modifying glycosyltransferase POMGnT1 with mutations in muscle-eye-brain disease.

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3405532

Deficiency of Dol-P-Man synthase subunit DPM3 bridges the congenital disorders of glycosylation with the dystroglycanopathies

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3405532

Fukutin gene mutations in an Italian patient with early onset muscular dystrophy but no central nervous system involvement

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3405532

Congenital muscular dystrophies with defective glycosylation of dystroglycan: a population study

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3405532

Brain involvement in muscular dystrophies with defective dystroglycan glycosylation

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3405532

Muscular dystrophies due to defective glycosylation of dystroglycan

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3405532

Refining genotype phenotype correlations in muscular dystrophies with defective glycosylation of dystroglycan

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3405532

Molecular mechanism of rigid spine with muscular dystrophy type 1 caused by novel mutations of selenoprotein N gene

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3405532

POMGnT1 mutation and phenotypic spectrum in muscle-eye-brain disease

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3405532

POMGnT1 gene alterations in a family with neurological abnormalities

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3405532

Structure-function analysis of human protein O-linked mannose beta1,2-N-acetylglucosaminyltransferase 1, POMGnT1

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3405532

Loss-of-function of an N-acetylglucosaminyltransferase, POMGnT1, in muscle-eye-brain disease

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3405532

Muscular dystrophy and neuronal migration disorder caused by mutations in a glycosyltransferase, POMGnT1

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3405532

POMT2 intragenic deletions and splicing abnormalities causing congenital muscular dystrophy with mental retardation

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3405532

POMT1 and POMT2 mutations in CMD patients: a multicentric Italian study.

2 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3405532

Muscle-eye-brain disease (MEB)

2 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3405532

Cobblestone lissencephaly: neuropathological subtypes and correlations with genes of dystroglycanopathies.

2 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3405532

Intragenic rearrangements in LARGE and POMGNT1 genes in severe dystroglycanopathies.

23 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3405532

Novel POMGnT1 mutations define broader phenotypic spectrum of muscle-eye-brain disease

23 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3405532

POMGnT1 mutations in congenital muscular dystrophy: genotype-phenotype correlation and expanded clinical spectrum.

23 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3405532

Attenuation of an amino-terminal premature stop codon mutation in the ATRX gene by an alternative mode of translational initiation.

23 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3405532

10.1016/J.JNS.2012.04.008

23 September 2018

Identifiers

DOI

1 reference

12 August 2017

1 reference

12 August 2017

PubMed publication ID

22554691

1 reference