Literature DB >> 21248738

Clinical utility gene card for: malignant hyperthermia.

Henry Rosenberg1, Henrik Rueffert.   

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Year:  2011        PMID： 21248738      PMCID： PMC3110041          DOI： 10.1038/ejhg.2010.248

Source DB:  PubMed          Journal:  Eur J Hum Genet        ISSN： 1018-4813            Impact factor:   4.246


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  26 in total

1.  Malignant hyperthermia: update on susceptibility testing.

Authors:  Ronald S Litman; Henry Rosenberg
Journal:  JAMA       Date:  2005-06-15       Impact factor: 56.272

2.  In vitro contracture test for diagnosis of malignant hyperthermia following the protocol of the European MH Group: results of testing patients surviving fulminant MH and unrelated low-risk subjects. The European Malignant Hyperthermia Group.

Authors:  H Ording; V Brancadoro; S Cozzolino; F R Ellis; V Glauber; E F Gonano; P J Halsall; E Hartung; J J Heffron; L Heytens; G Kozak-Ribbens; H Kress; R Krivosic-Horber; F Lehmann-Horn; W Mortier; Y Nivoche; E Ranklev-Twetman; S Sigurdsson; M Snoeck; P Stieglitz; V Tegazzin; A Urwyler; F Wappler
Journal:  Acta Anaesthesiol Scand       Date:  1997-09       Impact factor: 2.105

3.  Functional properties of ryanodine receptors carrying three amino acid substitutions identified in patients affected by multi-minicore disease and central core disease, expressed in immortalized lymphocytes.

Authors:  Sylvie Ducreux; Francesco Zorzato; Ana Ferreiro; Heinz Jungbluth; Francesco Muntoni; Nicole Monnier; Clemens R Müller; Susan Treves
Journal:  Biochem J       Date:  2006-04-15       Impact factor: 3.857

4.  Malignant hyperthermia in Japan: mutation screening of the entire ryanodine receptor type 1 gene coding region by direct sequencing.

Authors:  Carlos A Ibarra M; Shiwen Wu; Kumiko Murayama; Narihiro Minami; Yasuko Ichihara; Hirosato Kikuchi; Satoru Noguchi; Yukiko K Hayashi; Ryoichi Ochiai; Ichizo Nishino
Journal:  Anesthesiology       Date:  2006-06       Impact factor: 7.892

Review 5.  Standardization of the caffeine halothane muscle contracture test. North American Malignant Hyperthermia Group.

Authors:  M G Larach
Journal:  Anesth Analg       Date:  1989-10       Impact factor: 5.108

6.  Malignant-hyperthermia susceptibility is associated with a mutation of the alpha 1-subunit of the human dihydropyridine-sensitive L-type voltage-dependent calcium-channel receptor in skeletal muscle.

Authors:  N Monnier; V Procaccio; P Stieglitz; J Lunardi
Journal:  Am J Hum Genet       Date:  1997-06       Impact factor: 11.025

7.  Screening of the entire ryanodine receptor type 1 coding region for sequence variants associated with malignant hyperthermia susceptibility in the north american population.

Authors:  Nyamkhishig Sambuughin; Heather Holley; Sheila Muldoon; Barbara W Brandom; Astrid M de Bantel; Joseph R Tobin; Tom E Nelson; Lev G Goldfarb
Journal:  Anesthesiology       Date:  2005-03       Impact factor: 7.892

8.  Incidence of malignant hyperthermia in Denmark.

Authors:  H Ording
Journal:  Anesth Analg       Date:  1985-07       Impact factor: 5.108

9.  A clinical grading scale to predict malignant hyperthermia susceptibility.

Authors:  M G Larach; A R Localio; G C Allen; M A Denborough; F R Ellis; G A Gronert; R F Kaplan; S M Muldoon; T E Nelson; H Ording
Journal:  Anesthesiology       Date:  1994-04       Impact factor: 7.892

Review 10.  Malignant hyperthermia.

Authors:  Henry Rosenberg; Mark Davis; Danielle James; Neil Pollock; Kathryn Stowell
Journal:  Orphanet J Rare Dis       Date:  2007-04-24       Impact factor: 4.123
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  8 in total

1.  Statin-induced muscle toxicity and susceptibility to malignant hyperthermia and other muscle diseases: a population-based case-control study including 1st and 2nd degree relatives.

Authors:  Karin Hedenmalm; Arzu Gunes Granberg; Marja-Liisa Dahl
Journal:  Eur J Clin Pharmacol       Date:  2014-11-01       Impact factor: 2.953

2.  Clinical utility gene card for: Multi-minicore disease.

Authors:  Suzanne Lillis; Steve Abbs; Ana Ferreiro; Francesco Muntoni; Heinz Jungbluth
Journal:  Eur J Hum Genet       Date:  2011-10-19       Impact factor: 4.246

3.  Clinical utility gene card for: Central core disease.

Authors:  Suzanne Lillis; Stephen Abbs; Clemens R Mueller; Francesco Muntoni; Heinz Jungbluth
Journal:  Eur J Hum Genet       Date:  2011-10-12       Impact factor: 4.246

4.  A novel late-onset axial myopathy associated with mutations in the skeletal muscle ryanodine receptor (RYR1) gene.

Authors:  Sissel Løseth; Nicol C Voermans; Torberg Torbergsen; Sue Lillis; Christoffer Jonsrud; Sigurd Lindal; Erik-Jan Kamsteeg; Martin Lammens; Marcus Broman; Gabriele Dekomien; Paul Maddison; Francesco Muntoni; Caroline Sewry; Aleksandar Radunovic; Marianne de Visser; Volker Straub; Baziel van Engelen; Heinz Jungbluth
Journal:  J Neurol       Date:  2013-01-18       Impact factor: 4.849

5.  Sudden death due to malignant hyperthermia with a mutation of RYR1: autopsy, morphology and genetic analysis.

Authors:  Wenhe Li; Lin Zhang; Yue Liang; Fang Tong; Yiwu Zhou
Journal:  Forensic Sci Med Pathol       Date:  2017-11-04       Impact factor: 2.007

6.  Functional analysis of RYR1 variants linked to malignant hyperthermia.

Authors:  Jeremy Stephens; Anja H Schiemann; Cornelia Roesl; Dorota Miller; Sean Massey; Neil Pollock; Terasa Bulger; Kathryn Stowell
Journal:  Temperature (Austin)       Date:  2016-02-26

7.  Anomalous Kv 7 channel activity in human malignant hyperthermia syndrome unmasks a key role for H2 S and persulfidation in skeletal muscle.

Authors:  Valentina Vellecco; Alma Martelli; Iris Sofia Bibli; Marianna Vallifuoco; Onorina L Manzo; Elisabetta Panza; Valentina Citi; Vincenzo Calderone; Gianfranco de Dominicis; Caterina Cozzolino; Elisabetta M Basso; Martina Mariniello; Ingrid Fleming; Antonio Mancini; Mariarosaria Bucci; Giuseppe Cirino
Journal:  Br J Pharmacol       Date:  2019-05-03       Impact factor: 8.739

8.  Malignant hyperthermia.

Authors:  Dong-Chan Kim
Journal:  Korean J Anesthesiol       Date:  2012-11-16
  8 in total

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