(Q44533587)

3 December 2017

Phenotype-genotype correlations in patients with Marinesco-Sjögren syndrome (English)

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3 December 2017

2

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3 December 2017

F Ezgu

1

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3 December 2017

S Li

3

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3 December 2017

C de Sousa

4

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3 December 2017

J M Graham

5

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3 December 2017

I Hansmann

6

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3 December 2017

W He

7

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3 December 2017

K Porpora

8

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3 December 2017

D Wand

9

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3 December 2017

W Wertelecki

10

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3 December 2017

A Schneider

11

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3 December 2017

W R Wilcox

12

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3 December 2017

30 July 2013

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3 December 2017

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3 December 2017

86

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3 December 2017

1

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3 December 2017

74-84

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Marinesco-Sjogren syndrome, fanfare, and more

3 December 2017

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Homozygosity mapping of Marinesco-Sjögren syndrome to 5q31.

21 January 2018

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

21 January 2018

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

21 January 2018

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Cerebellar dysplasia and unilateral cataract in Marinesco-Sjögren syndrome

21 January 2018

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Marinesco-Sjögren syndrome in a male with mild dysmorphism.

21 January 2018

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

21 January 2018

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A method and server for predicting damaging missense mutations

21 January 2018

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

21 January 2018

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

21 January 2018

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Atypical, perhaps under-recognized? An unusual phenotype of Friedreich ataxia.

21 January 2018

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ER chaperones in mammalian development and human diseases

21 January 2018

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Integrating the mechanisms of apoptosis induced by endoplasmic reticulum stress

21 January 2018

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The ultrastructural spectrum of lysosomal storage diseases

21 January 2018

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Endoplasmic reticulum stress induces autophagy through activation of p38 MAPK in fibroblasts from Pompe disease patients carrying c.546G>T mutation

21 January 2018

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Endoplasmic reticulum stress in health and disease

21 January 2018

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Geranylgeranylacetone, an inducer of the 70-kDa heat shock protein (HSP70), elicits unfolded protein response and coordinates cellular fate independently of HSP70.

21 January 2018

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Sodium 4-phenylbutyrate acts as a chemical chaperone on misfolded myocilin to rescue cells from endoplasmic reticulum stress and apoptosis

21 January 2018

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Oral sodium phenylbutyrate in patients with recurrent malignant gliomas: a dose escalation and pharmacologic study

21 January 2018

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Congenital disorder of glycosylation type 1a: three siblings with a mild neurological phenotype

21 January 2018

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A broad spectrum of clinical presentations in congenital disorders of glycosylation I: a series of 26 cases

21 January 2018

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Skeletal findings in Marinesco-Sjögren syndrome

21 January 2018

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Skeletal dysplasia and myelopathy in congenital disorder of glycosylation type IA.

21 January 2018

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Expanding spectrum of congenital disorder of glycosylation Ig (CDG-Ig): sibs with a unique skeletal dysplasia, hypogammaglobulinemia, cardiomyopathy, genital malformations, and early lethality.

21 January 2018

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Clinical features in adults with congenital disorders of glycosylation type Ia (CDG-Ia).

21 January 2018

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Komrower Lecture. Congenital disorders of glycosylation (CDG): it's all in it!

21 January 2018

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A new type of congenital disorders of glycosylation (CDG-Ii) provides new insights into the early steps of dolichol-linked oligosaccharide biosynthesis

21 January 2018

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Congenital disorders of N-glycosylation including diseases associated with O- as well as N-glycosylation defects

21 January 2018

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An updated review of the long-term neurological effects of galactosemia.

21 January 2018

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Classical galactosaemia revisited.

21 January 2018

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Involvement of endoplasmic reticulum stress in a novel Classic Galactosemia model

21 January 2018

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The unfolded protein response in lens epithelial cells from galactosemic rat lenses

21 January 2018

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Congenital cataracts-facial dysmorphism-neuropathy

21 January 2018

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

21 January 2018

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

21 January 2018

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

21 January 2018

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A novel polymerase gamma mutation in a family with ophthalmoplegia, neuropathy, and Parkinsonism.

21 January 2018

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The mitochondrial disulfide relay system protein GFER is mutated in autosomal-recessive myopathy with cataract and combined respiratory-chain deficiency

21 January 2018

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21 January 2018

Identifiers

DOI

10.1111/CGE.12230

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3 December 2017

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