(Q36743532)

16 August 2017

Potentially Treatable Disorder Diagnosed Post Mortem by Exome Analysis in a Boy with Respiratory Distress (English)

1 reference

16 August 2017

9

Elisa Frullanti

1 reference

16 August 2017

Valentina Imperatore

1

0 references

Francesca Ariani

object named as

Francesca Ariani

5

0 references

Alessandra Renieri

object named as

Alessandra Renieri

7

0 references

Francesca Mari

object named as

Francesca Mari

8

0 references

author name string

Maria Antonietta Mencarelli

2

1 reference

16 August 2017

Chiara Fallerini

3

1 reference

16 August 2017

Laura Bianciardi

4

1 reference

16 August 2017

Simone Furini

6

1 reference

16 August 2017

language of work or name

English

0 references

publication date

27 February 2016

1 reference

International Journal of Molecular Sciences

16 August 2017

1 reference

16 August 2017

17

1 reference

16 August 2017

3

1 reference

16 August 2017

306

1 reference

Creative Commons Attribution 4.0 International

16 August 2017

start time

27 February 2016

1 reference

April 2022 Public Data File from Crossref

copyright status

copyrighted

0 references

cites work

Long-term follow-up in patients with congenital myasthenic syndrome due to RAPSN mutations

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4813169

Congenital myasthenic syndromes: pathogenesis, diagnosis, and treatment

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4813169

Use of next-generation sequencing as a diagnostic tool for congenital myasthenic syndrome.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4813169

Clinical whole-exome sequencing for the diagnosis of mendelian disorders

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4813169

Exome sequencing as a tool for Mendelian disease gene discovery

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4813169

The Genome Analysis Toolkit: A MapReduce framework for analyzing next-generation DNA sequencing data

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4813169

Myasthenic syndrome due to defects in rapsyn: Clinical and molecular findings in 39 patients

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4813169

Diverse molecular mechanisms involved in AChR deficiency due to rapsyn mutations

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4813169

Possible founder effect of rapsyn N88K mutation and identification of novel rapsyn mutations in congenital myasthenic syndromes

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4813169

Identification of pathogenic mutations in the human rapsyn gene

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4813169

E-box mutations in the RAPSN promoter region in eight cases with congenital myasthenic syndrome

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4813169

Mutation nomenclature extensions and suggestions to describe complex mutations: a discussion

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4813169

Rapsyn may function as a link between the acetylcholine receptor and the agrin-binding dystrophin-associated glycoprotein complex

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4813169

Failure of postsynaptic specialization to develop at neuromuscular junctions of rapsyn-deficient mice.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4813169

Congenital myasthenic syndromes and the formation of the neuromuscular junction

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4813169

Fast genetic sequencing saves newborn lives

5 September 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/26927095

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.3390/IJMS17030306

1 reference

16 August 2017

1 reference

16 August 2017

PubMed publication ID

26927095

1 reference