Marinesco-Sjogren syndrome

Known as: Garland-Moorhouse Syndrome, Marinesco Sjögren Syndrome, Marinesco Sjogren Syndrome Hypergonadotrophic Hypogonadism 
 
National Institutes of Health

Topic mentions per year

Topic mentions per year

1937-2018
0204019372017

Papers overview

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2010
2010
Endoplasmic reticulum (ER) stress has been linked to the onset and progression of many diseases. SIL1 is an adenine nucleotide… (More)
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Highly Cited
2007
Highly Cited
2007
Myeloid sarcoma (MS) is a rare neoplasm whose knowledge is largely based on case reports and/or technically dated contributions… (More)
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Highly Cited
2005
Highly Cited
2005
SIL1 (also called BAP) acts as a nucleotide exchange factor for the Hsp70 chaperone BiP (also called GRP78), which is a key… (More)
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Highly Cited
2005
Highly Cited
2005
We identified the gene underlying Marinesco-Sjögren syndrome, which is characterized by cerebellar ataxia, progressive myopathy… (More)
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Highly Cited
1998
Highly Cited
1998
Clinical, neuroanatomic, neurobehavioral, and functional brain-imaging studies suggest a role for the cerebellum in cognitive… (More)
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1997
1997
In 12 patients with the clinical characteristics of Marinesco-Sjögren syndrome including an autosomal recessive inheritance… (More)
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1991
1991
The histochemical and immunocytochemical findings of biopsied muscle in a 2-year-old girl with Marinesco-Sjögren syndrome are… (More)
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1990
1990
Seven muscle biopsies from patients with the clinical characteristics of Marinesco-Sjögren syndrome (MSS) revealed myopathic… (More)
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1989
1989
Three of 4 adult patients with Marinesco-Sjögren syndrome (MSS; 2 males and 2 females, aged 26-31 years) in 2 families became non… (More)
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1987
1987
Progressive muscular weakness, hypotonia and atrophy are among the cardinal signs of the Marinesco-Sjogren syndrome but have not… (More)
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