Molecular mechanism of rigid spine with muscular dystrophy type 1 caused by novel mutations of selenoprotein N gene (Q34539022)

2 August 2017

Molecular mechanism of rigid spine with muscular dystrophy type 1 caused by novel mutations of selenoprotein N gene (English)

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2 August 2017

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Yuji Okamoto

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Hiroshi Takashima

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Itsuro Higuchi

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Wataru Matsuyama

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Masahito Suehara

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Yasushi Nishihira

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Akihiro Hashiguchi

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Ryuki Hirano

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Arlene R Ng

9

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Masanori Nakagawa

10

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2 August 2017

Shuji Izumo

11

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Mitsuhiro Osame

12

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Kimiyoshi Arimura

13

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15 June 2006

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175-183

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https://scigraph.springernature.com/pub.10.1007/s10048-006-0046-0

2 August 2017

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Use of avidin-biotin-peroxidase complex (ABC) in immunoperoxidase techniques: a comparison between ABC and unlabeled antibody (PAP) procedures

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https://api.crossref.org/works/10.1007%2FS10048-006-0046-0

Multiple episodes of thrombosis in a patient with Becker muscular dystrophy with marked expression of utrophin on the muscle cell membrane.

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50th ENMC International Workshop: congenital muscular dystrophy. 28 February 1997 to 2 March 1997, Naarden, The Netherlands

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12 December 2020

Two siblings with nemaline myopathy presenting with rigid spine syndrome

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12 December 2020

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

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12 December 2020

Recoding elements located adjacent to a subset of eukaryal selenocysteine-specifying UGA codons.

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12 December 2020

Recognition of AUG and alternative initiator codons is augmented by G in position +4 but is not generally affected by the nucleotides in positions +5 and +6.

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12 December 2020

Glutathione peroxidase and phospholipid hydroperoxide glutathione peroxidase are differentially regulated in rats by dietary selenium

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12 December 2020

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

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12 December 2020

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

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12 December 2020

Rigid spine syndrome and rigid spine sign in myopathies

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12 December 2020

Point mutations define a sequence flanking the AUG initiator codon that modulates translation by eukaryotic ribosomes

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12 December 2020

Selenoprotein N: an endoplasmic reticulum glycoprotein with an early developmental expression pattern

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12 December 2020

Early onset myopathy with a novel mutation in the Selenoprotein N gene (SEPN1).

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12 December 2020

Molecular mechanism for distinct neurological phenotypes conveyed by allelic truncating mutations

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12 December 2020

Congenital muscular dystrophy with rigid spine syndrome: a clinical, pathological, radiological, and genetic study

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12 December 2020

Early onset, autosomal recessive muscular dystrophy with Emery-Dreifuss phenotype and normal emerin expression

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12 December 2020

Non-progressive central core disease with severe congenital scoliosis: a case report

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12 December 2020

Mutation nomenclature extensions and suggestions to describe complex mutations: a discussion

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12 December 2020

Periaxin mutations cause recessive Dejerine-Sottas neuropathy

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12 December 2020

Mutations in the gene encoding lamin A/C cause autosomal dominant Emery-Dreifuss muscular dystrophy

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12 December 2020

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12 December 2020

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

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12 December 2020

Respiratory manifestations of rigid spine syndrome

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12 December 2020

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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12 December 2020

Rigid spine syndrome with respiratory failure

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12 December 2020

Acid sphingomyelinase: identification of nine novel mutations among Italian Niemann Pick type B patients and characterization of in vivo functional in-frame start codon

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12 December 2020

10.1007/S10048-006-0046-0

Identifiers

DOI

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2 August 2017

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