(Q37396892)

20 August 2017

0 references

Biallelic Mutations in TMTC3, Encoding a Transmembrane and TPR-Containing Protein, Lead to Cobblestone Lissencephaly (English)

1 reference

20 August 2017

transmembrane protein

0 references

0 references

Maha S Zaki

2

0 references

Kevin P Campbell

object named as

Kevin P Campbell

11

0 references

Rami Abou Jamra

object named as

Rami Abou Jamra

18

0 references

Joseph G Gleeson

20

object named as

Joseph G Gleeson

1 reference

20 August 2017

5

Tawfeg Ben-Omran

1 reference

20 August 2017

Julie Jerber

1

1 reference

20 August 2017

Jumana Y Al-Aama

3

1 reference

20 August 2017

Rasim Ozgur Rosti

4

1 reference

20 August 2017

Esra Dikoglu

6

1 reference

20 August 2017

Jennifer L Silhavy

7

1 reference

20 August 2017

Caner Caglar

8

1 reference

20 August 2017

Damir Musaev

9

1 reference

20 August 2017

Beate Albrecht

10

1 reference

20 August 2017

Tobias Willer

12

1 reference

20 August 2017

Mariam Almuriekhi

13

1 reference

20 August 2017

Ahmet Okay Çağlayan

14

1 reference

20 August 2017

Jiri Vajsar

15

1 reference

20 August 2017

Kaya Bilgüvar

16

1 reference

20 August 2017

Gonul Ogur

17

1 reference

20 August 2017

Murat Günel

19

1 reference

20 August 2017

language of work or name

English

0 references

publication date

14 October 2016

1 reference

American Journal of Human Genetics

20 August 2017

1 reference

20 August 2017

99

1 reference

20 August 2017

5

1 reference

20 August 2017

1181-1189

1 reference

Central Nervous Involvement in Patients with Fukuyama Congenital Muscular Dystrophy

20 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5097947

Novel roles for protein disulphide isomerase in disease states: a double edged sword?

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5097947

TMTC1 and TMTC2 are novel endoplasmic reticulum tetratricopeptide repeat-containing adapter proteins involved in calcium homeostasis

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5097947

Deciphering the glycosylome of dystroglycanopathies using haploid screens for lassa virus entry

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5097947

Mutations in LAMB1 cause cobblestone brain malformation without muscular or ocular abnormalities

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5097947

Mutations in B3GALNT2 cause congenital muscular dystrophy and hypoglycosylation of α-dystroglycan

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5097947

Missense mutations in β-1,3-N-acetylglucosaminyltransferase 1 (B3GNT1) cause Walker-Warburg syndrome.

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5097947

Identification of mutations in TMEM5 and ISPD as a cause of severe cobblestone lissencephaly

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5097947

Exome sequencing and functional validation in zebrafish identify GTDC2 mutations as a cause of Walker-Warburg syndrome

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5097947

ISPD loss-of-function mutations disrupt dystroglycan O-mannosylation and cause Walker-Warburg syndrome

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5097947

A developmental and genetic classification for malformations of cortical development: update 2012

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5097947

mSmile is necessary for bronchial smooth muscle and alveolar myofibroblast development

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5097947

COL4A1 mutations cause ocular dysgenesis, neuronal localization defects, and myopathy in mice and Walker-Warburg syndrome in humans

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5097947

The involvement of SMILE/TMTC3 in endoplasmic reticulum stress response

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5097947

Recessive LAMC3 mutations cause malformations of occipital cortical development

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5097947

Dystroglycanopathies: coming into focus

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5097947

We have got you 'covered': how the meninges control brain development

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5097947

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5097947

Genetic mechanisms underlying abnormal neuronal migration in classical lissencephaly

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5097947

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

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5097947

Identification of a peripheral blood transcriptional biomarker panel associated with operational renal allograft tolerance

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5097947

Dystroglycan: from biosynthesis to pathogenesis of human disease.

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5097947

The congenital and limb-girdle muscular dystrophies: sharpening the focus, blurring the boundaries

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5097947

Smooth, rough and upside-down neocortical development

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5097947

Mutations in a new photoreceptor-pineal gene on 17p cause Leber congenital amaurosis

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5097947

Identification and cloning of a novel cDNA belonging to tetratricopeptide repeat gene family from Down syndrome-critical region 21q22.2.

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5097947

Lissencephaly and other malformations of cortical development: 1995 update

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5097947

Post-translational disruption of dystroglycan-ligand interactions in congenital muscular dystrophies

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5097947

Magnetic resonance imaging in classification of congenital muscular dystrophies with brain abnormalities.

26 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5097947

Absence of α- and β-dystroglycan is associated with Walker-Warburg syndrome.

26 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5097947

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

2 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5097947

Mutations in the FKRP gene can cause muscle-eye-brain disease and Walker-Warburg syndrome.

2 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5097947

Neuroimaging manifestations and classification of congenital muscular dystrophies.

2 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5097947

10.1016/J.AJHG.2016.09.007

2 September 2018

Identifiers

DOI

1 reference

20 August 2017

1 reference

20 August 2017

1 reference