(Q45102321)

9 December 2017

title

SIL1 mutations and clinical spectrum in patients with Marinesco-Sjogren syndrome (English)

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Matthis Synofzik

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Stacey Kiat-Hong Tay

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Stacey Kiat-Hong Tay

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Janbernd Kirschner

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Janbernd Kirschner

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Haluk Topaloglu

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object named as

Haluk Topaloglu

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9 December 2017

Michael Krieger

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9 December 2017

Andreas Roos

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9 December 2017

Claudia Stendel

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Kristl G Claeys

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Fatma Mujgan Sonmez

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Peter Bauer

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Antje Bornemann

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9 December 2017

Christian de Goede

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9 December 2017

Andreas Dufke

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9 December 2017

Richard S Finkel

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9 December 2017

Hans H Goebel

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9 December 2017

Martin Häussler

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9 December 2017

Helen Kingston

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Livija Medne

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9 December 2017

Petra Muschke

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9 December 2017

François Rivier

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9 December 2017

Sabine Rudnik-Schöneborn

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9 December 2017

Sabrina Spengler

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9 December 2017

Francesca Inzana

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9 December 2017

Franco Stanzial

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9 December 2017

Francesco Benedicenti

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9 December 2017

Ana Lia Taratuto

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9 December 2017

Laura Pirra

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Gökhan Uyanik

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Dorothea Wand

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Denise Williams

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Klaus Zerres

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Joachim Weis

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9 December 2017

language of work or name

English

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publication date

30 October 2013

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9 December 2017

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9 December 2017

volume

136

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9 December 2017

issue

Pt 12

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9 December 2017

page(s)

3634-3644

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The gene disrupted in Marinesco-Sjögren syndrome encodes SIL1, an HSPA5 cochaperone

9 December 2017

cites work

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWT283

Novel SIL1 mutations and exclusion of functional candidate genes in Marinesco-Sjögren syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWT283

Two sisters with mental retardation, cataract, ataxia, progressive hearing loss, and polyneuropathy

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWT283

Long-term treatment of cerebrotendinous xanthomatosis with chenodeoxycholic acid

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWT283

Homozygous deletion of the very low density lipoprotein receptor gene causes autosomal recessive cerebellar hypoplasia with cerebral gyral simplification

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWT283

Skeletal findings in Marinesco-Sjögren syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWT283

Molecular diagnosis of infantile mitochondrial disease with targeted next-generation sequencing

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWT283

BAP, a mammalian BiP-associated protein, is a nucleotide exchange factor that regulates the ATPase activity of BiP.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWT283

The congenital disorders of glycosylation: a multifaceted group of syndromes

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWT283

Identification of a new homozygous frameshift insertion mutation in the SIL1 gene in 3 Japanese patients with Marinesco-Sjögren syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWT283

Immunoglobulin heavy chain binding protein

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWT283

A syndrome with juvenile cataract, cerebellar atrophy, mental retardation and myopathy.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWT283

C-terminal mutations destabilize SIL1/BAP and can cause Marinesco-Sjögren syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWT283

Rapid cataract formation in Marinesco-Sjögren syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWT283

A novel mutation in BAP/SIL1 gene causes Marinesco-Sjögren syndrome in an extended pedigree.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWT283

Linkage to 18qter differentiates two clinically overlapping syndromes: congenital cataracts-facial dysmorphism-neuropathy (CCFDN) syndrome and Marinesco-Sjögren syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWT283

Marinesco-Sjögren syndrome. Report of an autopsy

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWT283

Lack of the mitochondrial protein acylglycerol kinase causes Sengers syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWT283

An Hsp70-like protein in the ER: identity with the 78 kd glucose-regulated protein and immunoglobulin heavy chain binding protein

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWT283

Muscular dystrophies due to glycosylation defects: diagnosis and therapeutic strategies

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWT283

21 January 2018

Mitochondrial disease

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https://api.crossref.org/works/10.1093%2FBRAIN%2FAWT283

Nonprogressive cerebellar disorder with mental retardation and autosomal recessive inheritance in Hutterites

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWT283

Mutations in SIL1 cause Marinesco-Sjögren syndrome, a cerebellar ataxia with cataract and myopathy

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWT283

The use of muscle biopsy in the diagnosis of undefined ataxia with cerebellar atrophy in children.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWT283

LHS1 and SIL1 provide a lumenal function that is essential for protein translocation into the endoplasmic reticulum

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWT283

Partial deficiency of the C-terminal-domain phosphatase of RNA polymerase II is associated with congenital cataracts facial dysmorphism neuropathy syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWT283

Differential effects of nerve, muscle, and fat tissue on regenerating nerve fibers in vivo

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWT283

Protein accumulation and neurodegeneration in the woozy mutant mouse is caused by disruption of SIL1, a cochaperone of BiP

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWT283

Alteration of the unfolded protein response modifies neurodegeneration in a mouse model of Marinesco-Sjögren syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWT283

Ataxia-telangiectasia: linkage analysis in highly inbred Arab and Druze families and differentiation from an ataxia-microcephaly-cataract syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWT283

21 January 2018

Identifiers

DOI

10.1093/BRAIN/AWT283

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9 December 2017

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