Mutations in SNORD118 cause the cerebral microangiopathy leukoencephalopathy with calcifications and cysts. (Q37302596)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27571260%20AND%20SRC:MED&resulttype=core&format=json

21 March 2020

title

Mutations in SNORD118 cause the cerebral microangiopathy leukoencephalopathy with calcifications and cysts (English)

1 reference

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Erratum: Corrigendum: Mutations in SNORD118 cause the cerebral microangiopathy leukoencephalopathy with calcifications and cysts

21 March 2020

corrigendum / erratum

1 reference

12 July 2019

http://api.crossref.org/works?select=update-to&filter=doi:10.1038/NG0217-317B

author

Mathieu Rodero

2

1 reference

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21 March 2020

Paul Kasher

3

1 reference

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21 March 2020

Carolina Uggenti

4

1 reference

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21 March 2020

Simon G Williams

10

1 reference

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21 March 2020

Roberta Battini

18

1 reference

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21 March 2020

Duccio M. Cordelli

25

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Charles M Lourenço

39

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21 March 2020

Sarju G Mehta

41

1 reference

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21 March 2020

Katrin Ounap

44

1 reference

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21 March 2020

Jon Stone

53

1 reference

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21 March 2020

Adeline Vanderver

56

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Emma Wakeling

57

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Graham D. Pavitt

59

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Sam Griffiths-Jones

60

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Gillian I. Rice

61

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62

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21 March 2020

John H Livingston

64

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Raymond T O'Keefe

65

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Yanick J. Crow

66

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21 March 2020

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Raphael Schiffmann

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21 March 2020

Monika Haubitz

14

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Christopher J Kershaw

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8

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Himanshu Goel

Himanshu Goel

31

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Marjo van der Knaap

Marjo S van der Knaap

63

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David Cassiman

David M Cassiman

23

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author name string

Emma M Jenkinson

1

1 reference

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5

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Yoann Rose

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Jill E Urquhart

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Sanjeev S Bhaskar

11

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21 March 2020

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Andrea Berger

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20

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21 March 2020

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26

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27

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28

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21 March 2020

Nicholas A Fletcher

29

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21 March 2020

Alan E Fryer

30

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Cheryl A Hemingway

32

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33

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Rosalind J Jefferson

35

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Ram Kumar

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38

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21 March 2020

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46

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49

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21 March 2020

Kanaga R Sinnathuray

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Calvin Soh

51

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21 March 2020

Helen S Stewart

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Christine E G Van Mol

55

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21 March 2020

Andrea Whitney

58

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21 March 2020

language of work or name

English

0 references

publication date

29 August 2016

1 reference

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21 March 2020

1 reference

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21 March 2020

volume

48

1 reference

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21 March 2020

issue

10

1 reference

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21 March 2020

page(s)

1185-1192

1 reference

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A POT1 mutation implicates defective telomere end fill-in and telomere truncations in Coats plus

21 March 2020

cites work

1 reference

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Noncoding RNAs in eukaryotic ribosome biogenesis and function

6 September 2017

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Forward genetics uncovers Transmembrane protein 107 as a novel factor required for ciliogenesis and Sonic hedgehog signaling

6 September 2017

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Specialized ribosomes: a new frontier in gene regulation and organismal biology

6 September 2017

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Mutations in CTC1, encoding the CTS telomere maintenance complex component 1, cause cerebroretinal microangiopathy with calcifications and cysts

6 September 2017

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Mutations in CTC1, encoding conserved telomere maintenance component 1, cause Coats plus

6 September 2017

1 reference

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The box C/D and H/ACA snoRNPs: key players in the modification, processing and the dynamic folding of ribosomal RNA.

6 September 2017

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When ribosomes go bad: diseases of ribosome biogenesis

6 September 2017

1 reference

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Involvement of nuclear import and export factors in U8 box C/D snoRNP biogenesis

6 September 2017

1 reference

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Mitochondrial aspartyl-tRNA synthetase deficiency causes leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation

6 September 2017

1 reference

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Biogenesis and intranuclear trafficking of human box C/D and H/ACA RNPs

6 September 2017

1 reference

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Leukoencephalopathy, cerebral calcifications, and cysts: new observations

6 September 2017

1 reference

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Analysis of Snu13p mutations reveals differential interactions with the U4 snRNA and U3 snoRNA

6 September 2017

1 reference

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Lsm Proteins are required for normal processing and stability of ribosomal RNAs

6 September 2017

1 reference

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Conserved stem II of the box C/D motif is essential for nucleolar localization and is required, along with the 15.5K protein, for the hierarchical assembly of the box C/D snoRNP

6 September 2017

1 reference

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Xenopus LSm proteins bind U8 snoRNA via an internal evolutionarily conserved octamer sequence

6 September 2017

1 reference

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Merlin--rapid analysis of dense genetic maps using sparse gene flow trees

6 September 2017

1 reference

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The U8 snoRNA gene family: identification and characterization of distinct, functional U8 genes in Xenopus

6 September 2017

1 reference

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A common core RNP structure shared between the small nucleoar box C/D RNPs and the spliceosomal U4 snRNP

6 September 2017

1 reference

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Allele-sharing models: LOD scores and accurate linkage tests

6 September 2017

1 reference

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The sequence of the 5' end of the U8 small nucleolar RNA is critical for 5.8S and 28S rRNA maturation

6 September 2017

1 reference

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U3, U8 and U13 comprise a new class of mammalian snRNPs localized in the cell nucleolus

6 September 2017

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Are eukaryotic ribosomes heterogeneous? Affirmations on the horizon

6 September 2017

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Leukoencephalopathy with calcifications and cysts: a purely neurological disorder distinct from coats plus.

6 September 2017

1 reference

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Constitutional aneuploidy and cancer predisposition caused by biallelic mutations in BUB1B.

26 June 2018

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Extensive brain calcifications, leukodystrophy, and formation of parenchymal cysts: a new progressive disorder due to diffuse cerebral microangiopathy

26 June 2018

1 reference

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Identification of a novel MKS locus defined by TMEM107 mutation

26 June 2018

1 reference

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Cerebroretinal microangiopathy with calcifications and cysts (CRMCC).

2 September 2018

1 reference

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An adult case of leukoencephalopathy with intracranial calcifications and cysts

2 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5045717

Sequence and structural elements critical for U8 snRNP function in Xenopus oocytes are evolutionarily conserved

2 September 2018

1 reference

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2 September 2018

Identifiers

DOI

10.1038/NG.3661

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27571260%20AND%20SRC:MED&resulttype=core&format=json

release_icdbkxiavzhj7kgzeseu2pcy6i

21 March 2020

Fatcat ID

1 reference

Fatcat

https://api.fatcat.wiki/v0/release/icdbkxiavzhj7kgzeseu2pcy6i

mapped directly with Wikidata item

24 November 2022

based on heuristic

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27571260%20AND%20SRC:MED&resulttype=core&format=json

21 March 2020

PubMed publication ID

27571260

1 reference