(Q50665962)

English

PIGO mutations in intractable epilepsy and severe developmental delay with mild elevation of alkaline phosphatase levels.

scientific article published on 13 January 2014

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scholarly article

1 reference

Europe PubMed Central

PubMed publication ID

17 March 2018

http://europepmc.org/abstract/MED/24417746

PIGO mutations in intractable epilepsy and severe developmental delay with mild elevation of alkaline phosphatase levels. (English)

1 reference

Europe PubMed Central

PubMed publication ID

17 March 2018

http://europepmc.org/abstract/MED/24417746

intractable epilepsy

1 reference

based on heuristic

inferred from title

Yoshinori Tsurusaki

8

1 reference

Europe PubMed Central

PubMed publication ID

17 March 2018

http://europepmc.org/abstract/MED/24417746

Hirotomo Saitsu

12

1 reference

Europe PubMed Central

PubMed publication ID

17 March 2018

http://europepmc.org/abstract/MED/24417746

author name string

Kazuyuki Nakamura

1

1 reference

Europe PubMed Central

PubMed publication ID

17 March 2018

http://europepmc.org/abstract/MED/24417746

Hitoshi Osaka

2

1 reference

Europe PubMed Central

PubMed publication ID

17 March 2018

http://europepmc.org/abstract/MED/24417746

Yoshiko Murakami

3

1 reference

Europe PubMed Central

PubMed publication ID

17 March 2018

http://europepmc.org/abstract/MED/24417746

Rie Anzai

4

1 reference

Europe PubMed Central

PubMed publication ID

17 March 2018

http://europepmc.org/abstract/MED/24417746

Kiyomi Nishiyama

5

1 reference

Europe PubMed Central

PubMed publication ID

17 March 2018

http://europepmc.org/abstract/MED/24417746

Hirofumi Kodera

6

1 reference

Europe PubMed Central

PubMed publication ID

17 March 2018

http://europepmc.org/abstract/MED/24417746

Mitsuko Nakashima

7

1 reference

Europe PubMed Central

PubMed publication ID

17 March 2018

http://europepmc.org/abstract/MED/24417746

Noriko Miyake

9

1 reference

Europe PubMed Central

PubMed publication ID

17 March 2018

http://europepmc.org/abstract/MED/24417746

Taroh Kinoshita

10

1 reference

Europe PubMed Central

PubMed publication ID

17 March 2018

http://europepmc.org/abstract/MED/24417746

Naomichi Matsumoto

11

1 reference

Europe PubMed Central

PubMed publication ID

17 March 2018

http://europepmc.org/abstract/MED/24417746

publication date

13 January 2014

1 reference

Europe PubMed Central

PubMed publication ID

17 March 2018

http://europepmc.org/abstract/MED/24417746

1 reference

Europe PubMed Central

PubMed publication ID

17 March 2018

http://europepmc.org/abstract/MED/24417746

55

1 reference

Europe PubMed Central

PubMed publication ID

17 March 2018

http://europepmc.org/abstract/MED/24417746

2

1 reference

Europe PubMed Central

PubMed publication ID

17 March 2018

http://europepmc.org/abstract/MED/24417746

e13-7

1 reference

Europe PubMed Central

PubMed publication ID

17 March 2018

http://europepmc.org/abstract/MED/24417746

Biosynthesis, remodelling and functions of mammalian GPI-anchored proteins: recent progress

1 reference

https://api.crossref.org/works/10.1111%2FEPI.12508

21 January 2018

GPI-anchor remodeling: potential functions of GPI-anchors in intracellular trafficking and membrane dynamics

1 reference

https://api.crossref.org/works/10.1111%2FEPI.12508

21 January 2018

Neurology of inherited glycosylation disorders

1 reference

https://api.crossref.org/works/10.1111%2FEPI.12508

21 January 2018

Understanding human glycosylation disorders: biochemistry leads the charge

1 reference

https://api.crossref.org/works/10.1111%2FEPI.12508

21 January 2018

Mutations in PIGO, a member of the GPI-anchor-synthesis pathway, cause hyperphosphatasia with mental retardation

1 reference

https://api.crossref.org/works/10.1111%2FEPI.12508

21 January 2018

PGAP2 mutations, affecting the GPI-anchor-synthesis pathway, cause hyperphosphatasia with mental retardation syndrome

1 reference

https://api.crossref.org/works/10.1111%2FEPI.12508

21 January 2018

Hypomorphic mutations in PGAP2, encoding a GPI-anchor-remodeling protein, cause autosomal-recessive intellectual disability

1 reference

https://api.crossref.org/works/10.1111%2FEPI.12508

21 January 2018

Vitamin B6-responsive epilepsy due to inherited GPI deficiency

1 reference

https://api.crossref.org/works/10.1111%2FEPI.12508

21 January 2018

De novo mutations in the autophagy gene WDR45 cause static encephalopathy of childhood with neurodegeneration in adulthood

1 reference

https://api.crossref.org/works/10.1111%2FEPI.12508

21 January 2018

Serum alkaline phosphatase levels in healthy children and evaluation of alkaline phosphatase z-scores in different types of rickets

1 reference

https://api.crossref.org/works/10.1111%2FEPI.12508

21 January 2018

Mosaicism of the UDP-galactose transporter SLC35A2 causes a congenital disorder of glycosylation

1 reference

https://api.crossref.org/works/10.1111%2FEPI.12508

21 January 2018

De novo mutations in SLC35A2 encoding a UDP-galactose transporter cause early-onset epileptic encephalopathy

1 reference

https://api.crossref.org/works/10.1111%2FEPI.12508

21 January 2018

Identifiers

10.1111/EPI.12508

1 reference

Europe PubMed Central

PubMed publication ID

17 March 2018

http://europepmc.org/abstract/MED/24417746

PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

17 March 2018

http://europepmc.org/abstract/MED/24417746

ResearchGate publication ID

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