(Q51701291)

10 April 2018

title

Chronic myopathy in a patient suspected of carrying two malignant hyperthermia susceptibility (MHS) mutations (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1300187

10 September 2022

main subject

malignant hyperthermia

1 reference

1

T. Deufel

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1300187

10 September 2022

5

K. Johnson

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1300187

10 September 2022

author name string

Müller-Felber W

2

1 reference

10 April 2018

Lehmann-Horn F

7

1 reference

10 April 2018

W. Müller-Felber

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1300187

10 September 2022

D. E. Pongratz

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1300187

10 September 2022

G. Hübner

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1300187

10 September 2022

P. A. Iaizzo

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1300187

10 September 2022

F. Lehmann-Horn

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1300187

10 September 2022

language of work or name

English

1 reference

National Center for Biotechnology Information

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/esummary.fcgi?db=pubmed&retmode=json&id=1300187

10 September 2022

publication date

1 January 1992

1 reference

10 April 2018

published in

Neuromuscular Disorders

1 reference

10 April 2018

volume

2

1 reference

10 April 2018

issue

5-6

1 reference

10 April 2018

page(s)

389-396

1 reference

10 April 2018

Malignant hyperthermia: a statistical review

cites work

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2806%2980010-6

7 January 2021

Malignant hyperthermia myopathy--a critical review

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2806%2980010-6

7 January 2021

A protocol for the investigation of malignant hyperpyrexia (MH) susceptibility. The European Malignant Hyperpyrexia Group

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2806%2980010-6

7 January 2021

Malignant hyperthermia susceptibility confirmed in both parents of probands. A report of three Austrian families

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2806%2980010-6

7 January 2021

Localization of the malignant hyperthermia susceptibility locus to human chromosome 19q12-13.2.

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2806%2980010-6

7 January 2021

Ryanodine receptor gene is a candidate for predisposition to malignant hyperthermia.

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2806%2980010-6

7 January 2021

Identification of a Mutation in Porcine Ryanodine Receptor Associated with Malignant Hyperthermia

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2806%2980010-6

7 January 2021

A substitution of cysteine for arginine 614 in the ryanodine receptor is potentially causative of human malignant hyperthermia

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2806%2980010-6

7 January 2021

Evidence for genetic heterogeneity in malignant hyperthermia susceptibility

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2806%2980010-6

7 January 2021

[Clinical, morphological and biochemical studies on muscle carnitine deficiency (author's transl)]

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2806%2980010-6

7 January 2021

Malignant hyperthermia: relationship to other diseases

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2806%2980010-6

7 January 2021

Are myotonias and periodic paralyses associated with susceptibility to malignant hyperthermia?

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2806%2980010-6

7 January 2021

Characterization of swine susceptible to malignant hyperthermia by in vivo, in vitro and post-mortem techniques.

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2806%2980010-6

7 January 2021

Homozygotes for Huntington's disease

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2806%2980010-6

7 January 2021

10.1016/S0960-8966(06)80010-6

Identifiers

DOI

1 reference

10 April 2018

1 reference

10 April 2018