(Q34116923)

English

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

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scholarly article

1 reference

Europe PubMed Central

PubMed publication ID

31 July 2017

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

1 reference

Europe PubMed Central

PubMed publication ID

31 July 2017

1 reference

based on heuristic

inferred from title

spastic quadriplegia

1 reference

based on heuristic

inferred from title

26

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31 July 2017

16

object named as

Shinji Saitoh

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31 July 2017

Hirotomo Saitsu

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Hirotomo Saitsu

1

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Mitsuhiro Kato

25

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author name string

Jun Tohyama

2

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31 July 2017

Tatsuro Kumada

3

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31 July 2017

Kiyoshi Egawa

4

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31 July 2017

Keisuke Hamada

5

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Ippei Okada

6

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Takeshi Mizuguchi

7

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31 July 2017

Hitoshi Osaka

8

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31 July 2017

Rie Miyata

9

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Tomonori Furukawa

10

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31 July 2017

Kazuhiro Haginoya

11

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Hideki Hoshino

12

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Tomohide Goto

13

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Yasuo Hachiya

14

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Takanori Yamagata

15

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Toshiro Nagai

17

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Kiyomi Nishiyama

18

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Akira Nishimura

19

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31 July 2017

Noriko Miyake

20

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Masayuki Komada

21

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31 July 2017

Kenji Hayashi

22

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31 July 2017

Syu-Ichi Hirai

23

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31 July 2017

Kazuhiro Ogata

24

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Naomichi Matsumoto

27

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31 July 2017

language of work or name

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publication date

20 May 2010

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31 July 2017

American Journal of Human Genetics

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31 July 2017

86

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31 July 2017

6

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31 July 2017

881-891

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31 July 2017

Protein structure prediction on the Web: a case study using the Phyre server

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3032058

5 July 2018

Hereditary spherocytosis

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3032058

5 July 2018

The functional organization and assembly of the axon initial segment.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3032058

5 July 2018

Key clinical features to identify girls with CDKL5 mutations

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3032058

5 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3032058

5 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3032058

5 July 2018

Early onset West syndrome with cerebral hypomyelination and reduced cerebral white matter

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3032058

5 July 2018

Ankyrin-G and beta2-spectrin collaborate in biogenesis of lateral membrane of human bronchial epithelial cells.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3032058

5 July 2018

Ohtahara syndrome: with special reference to its developmental aspects for differentiating from early myoclonic encephalopathy

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3032058

5 July 2018

Are early myoclonic encephalopathy (EME) and the Ohtahara syndrome (EIEE) independent of each other?

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3032058

5 July 2018

A new paradigm for West syndrome based on molecular and cell biology

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3032058

5 July 2018

The distribution and targeting of neuronal voltage-gated ion channels

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3032058

5 July 2018

Recessive symptomatic focal epilepsy and mutant contactin-associated protein-like 2

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3032058

5 July 2018

Spectrin mutations cause spinocerebellar ataxia type 5.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3032058

5 July 2018

Mutations in the human ortholog of Aristaless cause X-linked mental retardation and epilepsy

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3032058

5 July 2018

[Beta]IV-spectrin regulates sodium channel clustering through ankyrin-G at axon initial segments and nodes of Ranvier

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3032058

5 July 2018

Spectrin and ankyrin-based pathways: metazoan inventions for integrating cells into tissues

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3032058

5 July 2018

Monoclonal antibodies to alphaI spectrin Src homology 3 domain associate with macropinocytic vesicles in nonerythroid cells

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3032058

5 July 2018

Dynactin-dependent, dynein-driven vesicle transport in the absence of membrane proteins: a role for spectrin and acidic phospholipids

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3032058

5 July 2018

Brain spectrin(240/235) and brain spectrin(240/235E): two distinct spectrin subtypes with different locations within mammalian neural cells

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3032058

5 July 2018

Efficient selection for high-expression transfectants with a novel eukaryotic vector

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3032058

5 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3032058

5 July 2018

A mutant alphaII-spectrin designed to resist calpain and caspase cleavage questions the functional importance of this process in vivo.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3032058

28 October 2018

alphaII-spectrin is essential for assembly of the nodes of Ranvier in myelinated axons.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3032058

28 October 2018

Mutant beta-spectrin 4 causes auditory and motor neuropathies in quivering mice

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3032058

28 October 2018

Independent Movement, Dimerization and Stability of Tandem Repeats of Chicken Brain α-Spectrin

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3032058

28 October 2018

Polyalanine expansion of ARX associated with cryptogenic West syndrome

1 reference

https://pubmed.ncbi.nlm.nih.gov/20493457

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Axonal site of spike initiation enhances auditory coincidence detection

1 reference

https://pubmed.ncbi.nlm.nih.gov/20493457

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A mitogen gradient of dorsal midline Wnts organizes growth in the CNS

1 reference

https://pubmed.ncbi.nlm.nih.gov/20493457

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1016/J.AJHG.2010.04.013

1 reference

Europe PubMed Central

PubMed publication ID

31 July 2017

PMC publication ID

1 reference

Europe PubMed Central

PubMed publication ID

31 July 2017

PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

31 July 2017

ResearchGate publication ID

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