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Year Number of Results
1945 3
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1947 11
1948 12
1949 11
1950 46
1951 33
1952 13
1953 20
1954 17
1955 21
1956 19
1957 10
1958 16
1959 10
1960 12
1961 25
1962 21
1963 44
1964 54
1965 28
1966 22
1967 18
1968 22
1969 31
1970 23
1971 28
1972 27
1973 34
1974 27
1975 22
1976 43
1977 27
1978 58
1979 52
1980 67
1981 52
1982 63
1983 41
1984 64
1985 45
1986 78
1987 95
1988 109
1989 98
1990 104
1991 109
1992 119
1993 155
1994 138
1995 192
1996 191
1997 204
1998 170
1999 235
2000 203
2001 230
2002 190
2003 213
2004 238
2005 233
2006 194
2007 246
2008 279
2009 252
2010 287
2011 323
2012 359
2013 370
2014 329
2015 354
2016 311
2017 315
2018 352
2019 359
2020 398
2021 385
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2023 373
2024 407
2025 167

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10,027 results

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Page 1
Review: Protein misfolding diseases - the rare case of Marinesco-Sjogren syndrome.
Chiesa R, Sallese M. Chiesa R, et al. Neuropathol Appl Neurobiol. 2020 Jun;46(4):323-343. doi: 10.1111/nan.12588. Neuropathol Appl Neurobiol. 2020. PMID: 31701543 Review.
Suppressor of Ire1/Lhs1 double mutant (SIL1) is a nucleotide exchange factor for immunoglobulin binding protein, the main ER chaperone and primary sensor of ER stress. Loss of SIL1 function causes Marinesco-Sjogren syndrome (MSS), a rare multisystem disease o …
Suppressor of Ire1/Lhs1 double mutant (SIL1) is a nucleotide exchange factor for immunoglobulin binding protein, the main ER chaperone and p …
Marinesco-Sjogren syndrome in a male with mild dysmorphism.
Slavotinek A, Goldman J, Weisiger K, Kostiner D, Golabi M, Packman S, Wilcox W, Hoyme HE, Sherr E. Slavotinek A, et al. Am J Med Genet A. 2005 Mar 1;133A(2):197-201. doi: 10.1002/ajmg.a.30504. Am J Med Genet A. 2005. PMID: 15633176 Review.
Marinesco-Sjogren syndrome (MSS) is a rare, autosomal recessive disorder comprising cataracts, cerebellar ataxia caused by cerebellar hypoplasia, mild to moderate mental retardation, neuromuscular weakness, short stature, hypergonadotrophic hypogonadism, and …
Marinesco-Sjogren syndrome (MSS) is a rare, autosomal recessive disorder comprising cataracts, cerebellar ataxia caused …
[Marinesco-Sjogren syndrome].
Saitoh S. Saitoh S. Ryoikibetsu Shokogun Shirizu. 2001;(34 Pt 2):145-6. Ryoikibetsu Shokogun Shirizu. 2001. PMID: 11528665 Review. Japanese. No abstract available.
Sil1-deficient fibroblasts generate an aberrant extracellular matrix leading to tendon disorganisation in Marinesco-Sjogren syndrome.
Amodei L, Ruggieri AG, Potenza F, Viele M, Dufrusine B, Franciotti R, Pietrangelo L, Ardini M, Stuppia L, Federici L, De Laurenzi V, Sallese M. Amodei L, et al. J Transl Med. 2024 Aug 23;22(1):787. doi: 10.1186/s12967-024-05582-0. J Transl Med. 2024. PMID: 39180052 Free PMC article.
BACKGROUND: Marinesco-Sjogren syndrome (MSS) is an autosomal recessive neuromuscular disorder that arises in early childhood and is characterized by congenital cataracts, myopathy associated with muscle weakness, and degeneration of Purkinje neurons leading t …
BACKGROUND: Marinesco-Sjogren syndrome (MSS) is an autosomal recessive neuromuscular disorder that arises in early chil …
[Marinesco Sjogren syndrome].
Komiyama A, Kuroiwa Y. Komiyama A, et al. Ryoikibetsu Shokogun Shirizu. 1999;(27 Pt 2):299-302. Ryoikibetsu Shokogun Shirizu. 1999. PMID: 10434657 Review. Japanese. No abstract available.
MR imaging features in Marinesco-Sjogren syndrome: severe cerebellar atrophy is not an obligatory finding.
Reinhold A, Scheer I, Lehmann R, Neumann LM, Michael T, Varon R, Von Moers A. Reinhold A, et al. AJNR Am J Neuroradiol. 2003 May;24(5):825-8. AJNR Am J Neuroradiol. 2003. PMID: 12748078 Free PMC article. Review.
BACKGROUND AND PURPOSE: Cerebellar atrophy is considered the most prominent neuroradiologic finding in Marinesco-Sjogren syndrome (MSS). Our purpose was to investigate this neuroradiologic feature in a series of patients with MSS. ...
BACKGROUND AND PURPOSE: Cerebellar atrophy is considered the most prominent neuroradiologic finding in Marinesco-Sjogren sy …
Marinesco-Sjogren syndrome due to SIL1 mutations with a comment on the clinical phenotype.
Horvers M, Anttonen AK, Lehesjoki AE, Morava E, Wortmann S, Vermeer S, van de Warrenburg BP, Willemsen MA. Horvers M, et al. Eur J Paediatr Neurol. 2013 Mar;17(2):199-203. doi: 10.1016/j.ejpn.2012.09.007. Epub 2012 Oct 11. Eur J Paediatr Neurol. 2013. PMID: 23062754
BACKGROUND: Marinesco-Sjogren syndrome is an autosomal recessive cerebellar ataxia, characterised by cerebellar ataxia, myopathy, cataracts and intellectual disability, due to mutations in the SIL1 gene. METHODS: The clinical features and two novel SIL1 mutat …
BACKGROUND: Marinesco-Sjogren syndrome is an autosomal recessive cerebellar ataxia, characterised by cerebellar ataxia, …
Marinesco-Sjogren syndrome protein SIL1 regulates motor neuron subtype-selective ER stress in ALS.
Filézac de L'Etang A, Maharjan N, Cordeiro Braña M, Ruegsegger C, Rehmann R, Goswami A, Roos A, Troost D, Schneider BL, Weis J, Saxena S. Filézac de L'Etang A, et al. Nat Neurosci. 2015 Feb;18(2):227-38. doi: 10.1038/nn.3903. Epub 2015 Jan 5. Nat Neurosci. 2015. PMID: 25559081
We identify cochaperone SIL1, mutated in Marinesco-Sjogren syndrome (MSS), as being robustly expressed in disease-resistant slow motor neurons but not in ER stress-prone fast-fatigable motor neurons. ...
We identify cochaperone SIL1, mutated in Marinesco-Sjogren syndrome (MSS), as being robustly expressed in disease-resis …
10,027 results
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