Literature DB >> 18765655

King-denborough syndrome caused by a novel mutation in the ryanodine receptor gene.

C E D'Arcy1, A Bjorksten, E M Yiu, A Bankier, R Gillies, C A McLean, L K Shield, M M Ryan.   

Abstract

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Year:  2008        PMID： 18765655     DOI： 10.1212/01.wnl.0000324929.33780.2f

Source DB:  PubMed          Journal:  Neurology        ISSN： 0028-3878            Impact factor:   9.910


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  12 in total

Review 1.  Clinical Pharmacogenetics Implementation Consortium (CPIC) Guideline for the Use of Potent Volatile Anesthetic Agents and Succinylcholine in the Context of RYR1 or CACNA1S Genotypes.

Authors:  Stephen G Gonsalves; Robert T Dirksen; Katrin Sangkuhl; Rebecca Pulk; Maria Alvarellos; Teresa Vo; Keiko Hikino; Dan Roden; Teri E Klein; S Mark Poler; Sephalie Patel; Kelly E Caudle; Ronald Gordon; Barbara Brandom; Leslie G Biesecker
Journal:  Clin Pharmacol Ther       Date:  2019-01-24       Impact factor: 6.875

2.  Identical de novo mutation in the type 1 ryanodine receptor gene associated with fatal, stress-induced malignant hyperthermia in two unrelated families.

Authors:  Linda Groom; Sheila M Muldoon; Zhen Zhi Tang; Barbara W Brandom; Munkhuu Bayarsaikhan; Saiid Bina; Hee-Suk Lee; Xing Qiu; Nyamkhishig Sambuughin; Robert T Dirksen
Journal:  Anesthesiology       Date:  2011-11       Impact factor: 7.892

3.  Novel Homozygous Missense Mutation in RYR1 Leads to Severe Congenital Ptosis, Ophthalmoplegia, and Scoliosis in the Absence of Myopathy.

Authors:  Nafi Dilaver; Neda Mazaheri; Reza Maroofian; Jawaher Zeighami; Tahere Seifi; Mina Zamani; Alireza Sedaghat; Gholam Reza Shariati; Hamid Galehdari
Journal:  Mol Syndromol       Date:  2017-11-15

Review 4.  Review of RyR1 pathway and associated pathomechanisms.

Authors:  Jessica W Witherspoon; Katherine G Meilleur
Journal:  Acta Neuropathol Commun       Date:  2016-11-17       Impact factor: 7.801

5.  The clinical spectrum of the congenital myasthenic syndrome resulting from COL13A1 mutations.

Authors:  Pedro M Rodríguez Cruz; Judith Cossins; Eduardo de Paula Estephan; Francina Munell; Kathryn Selby; Michio Hirano; Reza Maroofin; Mohammad Yahya Vahidi Mehrjardi; Gabriel Chow; Aisling Carr; Adnan Manzur; Stephanie Robb; Pinki Munot; Wei Wei Liu; Siddharth Banka; Harry Fraser; Christian De Goede; Edmar Zanoteli; Umbertina Conti Reed; Abigail Sage; Margarida Gratacos; Alfons Macaya; Marina Dusl; Jan Senderek; Ana Töpf; Monika Hofer; Ravi Knight; Sithara Ramdas; Sandeep Jayawant; Hans Lochmüller; Jacqueline Palace; David Beeson
Journal:  Brain       Date:  2019-06-01       Impact factor: 13.501

6.  Motor function performance in individuals with RYR1-related myopathies.

Authors:  Jessica W Witherspoon; Carole Vuillerot; Ruhi P Vasavada; Melissa R Waite; Monique Shelton; Irene C Chrismer; Minal S Jain; Katherine G Meilleur
Journal:  Muscle Nerve       Date:  2019-07       Impact factor: 3.217

7.  Malignant hyperthermia.

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

Review 8.  Malignant hyperthermia: a review.

Authors:  Henry Rosenberg; Neil Pollock; Anja Schiemann; Terasa Bulger; Kathryn Stowell
Journal:  Orphanet J Rare Dis       Date:  2015-08-04       Impact factor: 4.123

Review 9.  Tissue specificity in the nuclear envelope supports its functional complexity.

Authors:  Jose I de Las Heras; Peter Meinke; Dzmitry G Batrakou; Vlastimil Srsen; Nikolaj Zuleger; Alastair Rw Kerr; Eric C Schirmer
Journal:  Nucleus       Date:  2013-11-08       Impact factor: 4.197

10.  Interactions among ryanodine receptor isotypes contribute to muscle fiber type development and function.

Authors:  Alexis A Chagovetz; Dana Klatt Shaw; Erin Ritchie; Kazuyuki Hoshijima; David J Grunwald
Journal:  Dis Model Mech       Date:  2019-09-18       Impact factor: 5.758
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