(Q57334263)

Janbernd Kirschner

22

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Volker Straub

7

Volker Straub

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Michaela Auer-Grumbach

25

Michaela Auer-Grumbach

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Hanns Lochmüller

17

Hanns Lochmuller

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author name string

Andrea Klein

1

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Suzanne Lillis

2

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Iulia Munteanu

3

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Mariacristina Scoto

4

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Haiyan Zhou

5

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Ros Quinlivan

6

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Adnan Y. Manzur

8

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Helen Roper

9

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Pierre-Yves Jeannet

10

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Wojtek Rakowicz

11

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David Hilton Jones

12

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Elizabeth Wraige

14

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Natalie Trump

15

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Ulrike Schara

16

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Anna Sarkozy

18

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Helen Kingston

19

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Fiona Norwood

20

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Maxwell Damian

21

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Cheryl Longman

23

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Mark Roberts

24

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Imelda Hughes

26

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Kate Bushby

27

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Caroline Sewry

28

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Stephanie Robb

29

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Stephen Abbs

30

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Heinz Jungbluth

31

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Francesco Muntoni

Malignant hyperthermia mutation sites in the Leu2442-Pro2477 (DP4) region of RyR1 (ryanodine receptor 1) are clustered in a structurally and functionally definable area

32

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publication date

4 April 2012

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published in

Human Mutation

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volume

33

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issue

6

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page(s)

981-988

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cites work

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22056

Recessive RYR1 mutations cause unusual congenital myopathy with prominent nuclear internalization and large areas of myofibrillar disorganization

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22056

The I4895T mutation in the type 1 ryanodine receptor induces fiber-type specific alterations in skeletal muscle that mimic premature aging

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22056

Mutation screening of the RYR1-cDNA from peripheral B-lymphocytes in 15 Swedish malignant hyperthermia index cases.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22056

A RYR1 mutation associated with recessive congenital myopathy and dominant malignant hyperthermia in Asian families.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22056

Genetic variation in RYR1 and malignant hyperthermia phenotypes

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22056

Malignant hyperthermia in infancy and identification of novel RYR1 mutation.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22056

Recessive mutations in RYR1 are a common cause of congenital fiber type disproportion

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22056

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22056

Principal mutation hotspot for central core disease and related myopathies in the C-terminal transmembrane region of the RYR1 gene.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22056

King–Denborough syndrome with and without mutations in the skeletal muscle ryanodine receptor (RYR1) gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22056

Dominant and recessive RYR1 mutations in adults with core lesions and mild muscle symptoms.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22056

A recessive form of central core disease, transiently presenting as multi-minicore disease, is associated with a homozygous mutation in the ryanodine receptor type 1 gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22056

Multiminicore disease in a family susceptible to malignant hyperthermia: histology, in vitro contracture tests, and genetic characterization

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22056

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22056

A double mutation of the ryanodine receptor type 1 gene in a malignant hyperthermia family with multiminicore myopathy

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22056

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22056

21 January 2018

Multi-minicore Disease

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22056

Late-onset axial myopathy with cores due to a novel heterozygous dominant mutation in the skeletal muscle ryanodine receptor (RYR1) gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22056

Autosomal recessive inheritance of RYR1 mutations in a congenital myopathy with cores.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22056

Minicore myopathy with ophthalmoplegia caused by mutations in the ryanodine receptor type 1 gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22056

Ryanodine receptor type 1 gene mutations found in the Canadian malignant hyperthermia population

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22056

Increasing the number of diagnostic mutations in malignant hyperthermia.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22056

Muscle biopsy and in vitro contracture test in subjects with idiopathic HyperCKemia.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22056

Novel skeletal muscle ryanodine receptor mutation in a large Brazilian family with malignant hyperthermia

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22056

Correlations between genotype and pharmacological, histological, functional, and clinical phenotypes in malignant hyperthermia susceptibility

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22056

Presence of two different genetic traits in malignant hyperthermia families: implication for genetic analysis, diagnosis, and incidence of malignant hyperthermia susceptibility

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22056

First genomic rearrangement of the RYR1 gene associated with an atypical presentation of lethal neonatal hypotonia

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22056

Null mutations causing depletion of the type 1 ryanodine receptor (RYR1) are commonly associated with recessive structural congenital myopathies with cores.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22056

Familial and sporadic forms of central core disease are associated with mutations in the C-terminal domain of the skeletal muscle ryanodine receptor

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22056

Central core myopathy with RYR1 mutation masks 5q spinal muscular atrophy

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22056

The structural organization of the human skeletal muscle ryanodine receptor (RYR1) gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22056

Mutations in RYR1 in malignant hyperthermia and central core disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22056

Congenital neuromuscular disease with uniform type 1 fiber and RYR1 mutation

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22056

The spectrum of pathology in central core disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22056

RYR1 mutations in UK central core disease patients: more than just the C-terminal transmembrane region of the RYR1 gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22056

Scanning for mutations of the ryanodine receptor (RYR1) gene by denaturing HPLC: detection of three novel malignant hyperthermia alleles

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22056

Identification of four novel mutations in the C-terminal membrane spanning domain of the ryanodine receptor 1: association with central core disease and alteration of calcium homeostasis

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22056

Enhanced excitation-coupled Ca(2+) entry induces nuclear translocation of NFAT and contributes to IL-6 release from myotubes from patients with central core disease.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22056

Joint hypermobility as a distinctive feature in the differential diagnosis of myopathies.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22056

Functional characterization of malignant hyperthermia-associated RyR1 mutations in exon 44, using the human myotube model

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22056

RYR1 mutations are a common cause of congenital myopathies with central nuclei

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22056

Central core disease is due to RYR1 mutations in more than 90% of patients.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22056

Epigenetic allele silencing unveils recessive RYR1 mutations in core myopathies

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22056

Molecular mechanisms and phenotypic variation in RYR1-related congenital myopathies

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22056

Multi-minicore disease and atypical periodic paralysis associated with novel mutations in the skeletal muscle ryanodine receptor (RYR1) gene.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22056

Novel missense mutations and unexpected multiple changes of RYR1 gene in 75 malignant hyperthermia families

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22056

Prevalence of congenital myopathies in a representative pediatric united states population

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22056

7 January 2021

Mutated p.4894 RyR1 function related to malignant hyperthermia and congenital neuromuscular disease with uniform type 1 fiber (CNMDU1)

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22056

7 January 2021

De novo RYR1 heterozygous mutation (I4898T) causing lethal core-rod myopathy in twins

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22056

7 January 2021

Muscle magnetic resonance imaging in congenital myopathies due to ryanodine receptor type 1 gene mutations

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22056

7 January 2021

Central core disease due to recessive mutations in RYR1 gene: is it more common than described?

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22056

7 January 2021

Congenital myopathies

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22056

7 January 2021

Functional properties of RYR1 mutations identified in Swedish patients with malignant hyperthermia and central core disease.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22056

7 January 2021