(Q80865346)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18338202%20AND%20SRC:MED&resulttype=core&format=json

4 January 2020

title

AMP deaminase deficiency in skeletal muscle is unlikely to be of clinical relevance (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18338202%20AND%20SRC:MED&resulttype=core&format=json

adenosine monophosphate deaminase deficiency

4 January 2020

main subject

1 reference

Frank Hanisch

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18338202%20AND%20SRC:MED&resulttype=core&format=json

4 January 2020

Pushpa Joshi

series ordinal

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18338202%20AND%20SRC:MED&resulttype=core&format=json

4 January 2020

Stephan Zierz

series ordinal

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18338202%20AND%20SRC:MED&resulttype=core&format=json

4 January 2020

publication date

14 March 2008

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18338202%20AND%20SRC:MED&resulttype=core&format=json

4 January 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18338202%20AND%20SRC:MED&resulttype=core&format=json

4 January 2020

volume

255

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18338202%20AND%20SRC:MED&resulttype=core&format=json

4 January 2020

page(s)

318-322

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18338202%20AND%20SRC:MED&resulttype=core&format=json

4 January 2020

issue

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18338202%20AND%20SRC:MED&resulttype=core&format=json

https://scigraph.springernature.com/pub.10.1007/s00415-008-0530-6

4 January 2020

exact match

0 references

cites work

Alternative splicing: a mechanism for phenotypic rescue of a common inherited defect

1 reference

12 December 2020

Clinical significance and neuropathology of primary MADD in C34-T and G468-T mutations of the AMPD1 gene

1 reference

12 December 2020

First missense mutations (R388W and R425H) of AMPD1 accompanied with myopathy found in a Japanese patient

1 reference

12 December 2020

Molecular analysis of the myoadenylate deaminase deficiencies

1 reference

12 December 2020

Cloning of human AMP deaminase isoform E cDNAs. Evidence for a third AMPD gene exhibiting alternatively spliced 5'-exons

1 reference

12 December 2020

Frequency of the C34T mutation of the AMPD1 gene in world-class endurance athletes: does this mutation impair performance?

1 reference

12 December 2020

Haplotype analysis of human AMPD1 gene: origin of common mutant allele

1 reference

12 December 2020

Myoadenylate deaminase deficiency caused by alternative splicing due to a novel intronic mutation in the AMPD1 gene.

1 reference

12 December 2020

A G468-T AMPD1 mutant allele contributes to the high incidence of myoadenylate deaminase deficiency in the Caucasian population

1 reference

12 December 2020

Regulation of skeletal muscle ATP catabolism by AMPD1 genotype during sprint exercise in asymptomatic subjects

1 reference

12 December 2020

Myoadenylate deaminase deficiency: primary and secondary types

1 reference

12 December 2020

Immunolocalization of AMP-deaminase isozymes in human skeletal muscle and cultured muscle cells: concentration of isoform M at the neuromuscular junction

1 reference

12 December 2020

Genetic characteristics of myoadenylate deaminase deficiency

1 reference

12 December 2020

Ecto- and cytosolic 5'-nucleotidases in normal and AMP deaminase-deficient human skeletal muscle

1 reference

12 December 2020

Myoadenylate Deaminase Deficiency: A New Disease of Muscle

1 reference

12 December 2020

Molecular basis of AMP deaminase deficiency in skeletal muscle

1 reference

12 December 2020