(Q24617292)

English

Mutations of the selenoprotein N gene, which is implicated in rigid spine muscular dystrophy, cause the classical phenotype of multiminicore disease: reassessing the nosology of early-onset myopathies

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Mutations of the selenoprotein N gene, which is implicated in rigid spine muscular dystrophy, cause the classical phenotype of multiminicore disease: reassessing the nosology of early-onset myopathies (English)

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muscular dystrophy

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multiminicore myopathy

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Pascale Richard

16

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1

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Claire Pichereau

3

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Susana Quijano-Roy

2

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Heinz Jungbluth

7

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Francesco Muntoni

13

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Pascale Guicheney

18

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8

object named as

Volker Straub

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Carsten G Bönnemann

6

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Carsten Bönnemann

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17

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Michel Fardeau

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Jean-Jacques Martin

12

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Jean-Jacques Martin

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Nathalie Goemans

5

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Nathalie Goemans

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Brigitte Estournet

15

object named as

Brigitte Estournet

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author name string

Behzad Moghadaszadeh

4

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Marcello Villanova

9

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Jean-Paul Leroy

10

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Norma B Romero

11

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Thomas Voit

14

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language of work or name

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publication date

October 2002

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American Journal of Human Genetics

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71

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4

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739-49

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Identification of a new locus for a peculiar form of congenital muscular dystrophy with early rigidity of the spine, on chromosome 1p35-36.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=378532

7 April 2017

Close contacts with the endoplasmic reticulum as determinants of mitochondrial Ca2+ responses

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=378532

7 April 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=378532

27 September 2017

Ca2+ marks: miniature calcium signals in single mitochondria driven by ryanodine receptors

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=378532

27 September 2017

Mutations in SEPN1 cause congenital muscular dystrophy with spinal rigidity and restrictive respiratory syndrome.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=378532

27 September 2017

Multiplex capillary denaturing high-performance liquid chromatography with laser-induced fluorescence detection

1 reference

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27 September 2017

Mammalian selenium-containing proteins

1 reference

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27 September 2017

The importance of selenium to human health

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=378532

27 September 2017

Structural analysis of new local features in SECIS RNA hairpins

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=378532

27 September 2017

Novel selenoproteins identified in silico and in vivo by using a conserved RNA structural motif

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=378532

27 September 2017

Rigid spine syndrome: a muscle syndrome in search of a name.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=378532

27 September 2017

The rigid spine syndrome--a myopathy of uncertain nosological position

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=378532

27 September 2017

The rigid spine syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=378532

27 September 2017

Rigid spine syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=378532

27 September 2017

Further investigation on the role of selenium deficiency in the aetiology and pathogenesis of Keshan disease

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=378532

30 May 2018

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

1 reference

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28 November 2018

Minicore myopathy in children: a clinical and histopathological study of 19 cases.

1 reference

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28 November 2018

Two siblings with nemaline myopathy presenting with rigid spine syndrome

1 reference

https://pubmed.ncbi.nlm.nih.gov/12192640

12 December 2020

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Rigid spine syndrome. A type I fiber myopathy

1 reference

https://pubmed.ncbi.nlm.nih.gov/12192640

12 December 2020

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80th ENMC International Workshop on Multi-Minicore Disease: 1st International MmD Workshop. 12-13th May, 2000, Soestduinen, The Netherlands

1 reference

https://pubmed.ncbi.nlm.nih.gov/12192640

12 December 2020

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Calcium uptake and ATPase activity of sarcoplasmic reticulum vesicles isolated from control and selenium deficient lambs

1 reference

https://pubmed.ncbi.nlm.nih.gov/12192640

12 December 2020

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The rigid spine syndrome due to acid maltase deficiency

1 reference

https://pubmed.ncbi.nlm.nih.gov/12192640

12 December 2020

based on heuristic

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Proximal muscle weakness and selenium deficiency associated with long term parenteral nutrition

1 reference

https://pubmed.ncbi.nlm.nih.gov/12192640

12 December 2020

based on heuristic

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Rigid spine syndrome and rigid spine sign in myopathies

1 reference

https://pubmed.ncbi.nlm.nih.gov/12192640

12 December 2020

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Rigid spine syndrome and its nosological borders. 2 cases

1 reference

https://pubmed.ncbi.nlm.nih.gov/12192640

12 December 2020

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Rigid spine syndrome: clinical and histological problems

1 reference

https://pubmed.ncbi.nlm.nih.gov/12192640

12 December 2020

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Congenital muscular dystrophy and rigid spine syndrome

1 reference

https://pubmed.ncbi.nlm.nih.gov/12192640

12 December 2020

based on heuristic

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Rigid spine syndrome in a girl

1 reference

https://pubmed.ncbi.nlm.nih.gov/12192640

12 December 2020

based on heuristic

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Presence of emerinopathy in cases of rigid spine syndrome

1 reference

https://pubmed.ncbi.nlm.nih.gov/12192640

12 December 2020

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[Multiminicore disease in a rigid spine syndrome]

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https://pubmed.ncbi.nlm.nih.gov/12192640

12 December 2020

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Multicore disease. A recently recognized congenital myopathy associated with multifocal degeneration of muscle fibers

1 reference

https://pubmed.ncbi.nlm.nih.gov/12192640

12 December 2020

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85th ENMC International Workshop on Congenital Muscular Dystrophy. 6th International CMD Workshop. 1st Workshop of the Myo-Cluster Project 'GENRE'. 27-28th October 2000, Naarden, The Netherlands

1 reference

https://pubmed.ncbi.nlm.nih.gov/12192640

12 December 2020

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Experimental results with selenium in white muscle disease of lambs and calves

1 reference

https://pubmed.ncbi.nlm.nih.gov/12192640

12 December 2020

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Mitochondrial abnormalities in selenium-deficient myopathy

1 reference

https://pubmed.ncbi.nlm.nih.gov/12192640

12 December 2020

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Multi-minicore disease--searching for boundaries: phenotype analysis of 38 cases

1 reference

https://pubmed.ncbi.nlm.nih.gov/12192640

12 December 2020

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[Rigid-spine syndrome in a female patient (author's transl)]

1 reference

https://pubmed.ncbi.nlm.nih.gov/12192640

12 December 2020

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release_rwurtwssjrckrmbn4yjewuwhje

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https://api.fatcat.wiki/v0/release/rwurtwssjrckrmbn4yjewuwhje

24 November 2022

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