(Q36035682)

11 August 2017

Identification of a novel in-frame de novo mutation in SPTAN1 in intellectual disability and pontocerebellar atrophy (English)

1 reference

disability affecting intellectual abilities

11 August 2017

0 references

intellectual disability

1 reference

based on heuristic

inferred from title

1 reference

10

Guy A Rouleau

0 references

Sylvia Dobrzeniecka

5

object named as

Sylvia Dobrzeniecka

0 references

Hirotomo Saitsu

object named as

Hirotomo Saitsu

2

0 references

Dan Spiegelman

6

object named as

Dan Spiegelman

1 reference

11 August 2017

4

Julie Gauthier

1 reference

11 August 2017

11

Jacques L Michaud

1 reference

11 August 2017

7

Jean-Claude Lacaille

1 reference

11 August 2017

8

Jean-Claude Décarie

1 reference

11 August 2017

Fadi F Hamdan

1

1 reference

11 August 2017

Kiyomi Nishiyama

3

1 reference

11 August 2017

Naomichi Matsumoto

9

1 reference

11 August 2017

18 January 2012

1 reference

European Journal of Human Genetics

11 August 2017

1 reference

11 August 2017

20

1 reference

11 August 2017

7

1 reference

11 August 2017

796-800

1 reference

Variation in genome-wide mutation rates within and between human families

11 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3376261

Excess of de novo deleterious mutations in genes associated with glutamatergic systems in nonsyndromic intellectual disability

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3376261

Dominant-negative mutations in alpha-II spectrin cause West syndrome with severe cerebral hypomyelination, spastic quadriplegia, and developmental delay

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3376261

Evolution of spectrin function in cytoskeletal and membrane networks

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3376261

De novo mutations in the gene encoding STXBP1 (MUNC18-1) cause early infantile epileptic encephalopathy

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3376261

Organizing the fluid membrane bilayer: diseases linked to spectrin and ankyrin

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3376261

Spectrin mutations cause spinocerebellar ataxia type 5.

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3376261

SIFT: Predicting amino acid changes that affect protein function

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3376261

Prediction of deleterious human alleles

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3376261

Properties of human red cell spectrin heterodimer (side-to-side) assembly and identification of an essential nucleation site

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3376261

A de novo paradigm for 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=3376261

23 September 2018

Identifiers

DOI

10.1038/EJHG.2011.271

1 reference

11 August 2017

1 reference

11 August 2017

PubMed publication ID

22258530

1 reference