(Q40485488)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16499764%20AND%20SRC:MED&resulttype=core&format=json

17 January 2020

title

Epilepsy in Menkes disease: analysis of clinical stages (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16499764%20AND%20SRC:MED&resulttype=core&format=json

17 January 2020

1 reference

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16499764%20AND%20SRC:MED&resulttype=core&format=json

17 January 2020

Catherine Chiron

10

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16499764%20AND%20SRC:MED&resulttype=core&format=json

17 January 2020

1

Nadia Bahi-Buisson

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16499764%20AND%20SRC:MED&resulttype=core&format=json

17 January 2020

author name string

Rima Nabbout

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16499764%20AND%20SRC:MED&resulttype=core&format=json

17 January 2020

Christine Barnerias

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16499764%20AND%20SRC:MED&resulttype=core&format=json

17 January 2020

Isabelle Desguerre

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16499764%20AND%20SRC:MED&resulttype=core&format=json

17 January 2020

Pascale De Lonlay

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16499764%20AND%20SRC:MED&resulttype=core&format=json

17 January 2020

Michele Mayer

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16499764%20AND%20SRC:MED&resulttype=core&format=json

17 January 2020

Perrine Plouin

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16499764%20AND%20SRC:MED&resulttype=core&format=json

17 January 2020

Olivier Dulac

9

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16499764%20AND%20SRC:MED&resulttype=core&format=json

17 January 2020

publication date

1 February 2006

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16499764%20AND%20SRC:MED&resulttype=core&format=json

17 January 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16499764%20AND%20SRC:MED&resulttype=core&format=json

17 January 2020

volume

47

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16499764%20AND%20SRC:MED&resulttype=core&format=json

17 January 2020

issue

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16499764%20AND%20SRC:MED&resulttype=core&format=json

17 January 2020

page(s)

380-386

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16499764%20AND%20SRC:MED&resulttype=core&format=json

Menkes' steely-hair (kinky-hair) disease.

17 January 2020

cites work

1 reference

https://api.crossref.org/works/10.1111%2FJ.1528-1167.2006.00432.X

Molecular mechanisms of copper metabolism and the role of the Menkes disease protein.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1528-1167.2006.00432.X

Metabolic and molecular bases of Menkes disease and occipital horn syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1528-1167.2006.00432.X

Plasma and cerebrospinal fluid neurochemical pattern in Menkes disease.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1528-1167.2006.00432.X

The molecular basis of copper homeostasis copper-related disorders

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1528-1167.2006.00432.X

Isolation of a candidate gene for Menkes disease that encodes a potential heavy metal binding protein

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1528-1167.2006.00432.X

Menkes copper-translocating P-type ATPase (ATP7A): biochemical and cell biology properties, and role in Menkes disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1528-1167.2006.00432.X

Spectrum of EEG findings in Menkes disease.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1528-1167.2006.00432.X

Copper incorporation studies on cultured cells for prenatal diagnosis of Menkes' disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1528-1167.2006.00432.X

Clinical analysis of West syndrome associated with phenylketonuria

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1528-1167.2006.00432.X

Infantile Spasms with Basal Ganglia MRI Hypersignal May Reveal Mitochondrial Disorder Due to T8993G MT DNA Mutation

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1528-1167.2006.00432.X

Neuronal hyperexcitability in stroke-like episodes of MELAS syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1528-1167.2006.00432.X

Neuronal degeneration in the brain of the brindled mouse. II. Ultrastructure of neuronal inclusions in the cerebral cortex

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1528-1167.2006.00432.X

Neuronal degeneration in the brain of the brindled mouse. An ultrastructural study of the cerebral cortical neurons

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1528-1167.2006.00432.X

Menkes' kinky-hair syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1528-1167.2006.00432.X

Infantile spasms: I. PET identifies focal cortical dysgenesis in cryptogenic cases for surgical treatment

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1528-1167.2006.00432.X

Neuroradiological assessment of brain structure and function and its implication in the pathogenesis of West syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1528-1167.2006.00432.X

21 January 2018

What is West syndrome?

1 reference

https://api.crossref.org/works/10.1111%2FJ.1528-1167.2006.00432.X

Multifocal independent Spike syndrome: relationship to hypsarrhythmia and the slow spike-wave (Lennox-Gastaut) syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1528-1167.2006.00432.X

Mutation spectrum of ATP7A, the gene defective in Menkes disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1528-1167.2006.00432.X