Home > Publications Database > Paranoid delusion as lead symptom in two siblings with late-onset Tay-Sachs disease and a novel mutation in the HEXA gene. > print

001     137899
005     20240321220333.0
024 7 _ |a 10.1007/s00415-015-7729-0
|2 doi
024 7 _ |a pmid:25860343
|2 pmid
024 7 _ |a 0012-1037
|2 ISSN
024 7 _ |a 0340-5354
|2 ISSN
024 7 _ |a 0939-1517
|2 ISSN
024 7 _ |a 1432-1459
|2 ISSN
024 7 _ |a 1619-800X
|2 ISSN
024 7 _ |a altmetric:4029291
|2 altmetric
037 _ _ |a DZNE-2020-04221
041 _ _ |a English
082 _ _ |a 610
100 1 _ |a Stendel, Claudia
|0 P:(DE-2719)2812141
|b 0
|e First author
|u dzne
245 _ _ |a Paranoid delusion as lead symptom in two siblings with late-onset Tay-Sachs disease and a novel mutation in the HEXA gene.
260 _ _ |a Berlin
|c 2015
|b Springer73057
264 _ 1 |3 online
|2 Crossref
|b Springer Science and Business Media LLC
|c 2015-04-11
264 _ 1 |3 print
|2 Crossref
|b Springer Science and Business Media LLC
|c 2015-04-01
336 7 _ |a article
|2 DRIVER
336 7 _ |a Output Types/Journal article
|2 DataCite
336 7 _ |a Journal Article
|b journal
|m journal
|0 PUB:(DE-HGF)16
|s 1592584802_16727
|2 PUB:(DE-HGF)
|x Letter
336 7 _ |a ARTICLE
|2 BibTeX
336 7 _ |a JOURNAL_ARTICLE
|2 ORCID
336 7 _ |a Journal Article
|0 0
|2 EndNote
536 _ _ |a 344 - Clinical and Health Care Research (POF3-344)
|0 G:(DE-HGF)POF3-344
|c POF3-344
|f POF III
|x 0
542 _ _ |i 2015-04-01
|2 Crossref
|u http://www.springer.com/tdm
588 _ _ |a Dataset connected to CrossRef, PubMed,
650 _ 7 |a HEXA protein, human
|0 EC 3.2.1.52
|2 NLM Chemicals
650 _ 7 |a beta-Hexosaminidase alpha Chain
|0 EC 3.2.1.52
|2 NLM Chemicals
650 _ 2 |a Adult
|2 MeSH
650 _ 2 |a Age of Onset
|2 MeSH
650 _ 2 |a Delusions: etiology
|2 MeSH
650 _ 2 |a Delusions: physiopathology
|2 MeSH
650 _ 2 |a Female
|2 MeSH
650 _ 2 |a Humans
|2 MeSH
650 _ 2 |a Male
|2 MeSH
650 _ 2 |a Mutation
|2 MeSH
650 _ 2 |a Paranoid Disorders: etiology
|2 MeSH
650 _ 2 |a Paranoid Disorders: physiopathology
|2 MeSH
650 _ 2 |a Siblings
|2 MeSH
650 _ 2 |a Tay-Sachs Disease: complications
|2 MeSH
650 _ 2 |a Tay-Sachs Disease: genetics
|2 MeSH
650 _ 2 |a Tay-Sachs Disease: physiopathology
|2 MeSH
650 _ 2 |a Young Adult
|2 MeSH
650 _ 2 |a beta-Hexosaminidase alpha Chain: genetics
|2 MeSH
700 1 _ |a Gallenmüller, Constanze
|0 P:(DE-2719)9000092
|b 1
|u dzne
700 1 _ |a Peters, Katrin
|b 2
700 1 _ |a Bürger, Friederike
|b 3
700 1 _ |a Gramer, Gwendolyn
|b 4
700 1 _ |a Biskup, Saskia
|0 P:(DE-HGF)0
|b 5
700 1 _ |a Klopstock, Thomas
|0 P:(DE-2719)2810704
|b 6
|e Last author
|u dzne
773 1 8 |a 10.1007/s00415-015-7729-0
|b Springer Science and Business Media LLC
|d 2015-04-01
|n 4
|p 1072-1073
|3 journal-article
|2 Crossref
|t Journal of Neurology
|v 262
|y 2015
|x 0340-5354
773 _ _ |a 10.1007/s00415-015-7729-0
|g Vol. 262, no. 4, p. 1072 - 1073
|0 PERI:(DE-600)1421299-7
|n 4
|q 262:4<1072 - 1073
|p 1072-1073
|t Journal of neurology
|v 262
|y 2015
|x 0340-5354
909 C O |o oai:pub.dzne.de:137899
|p VDB
910 1 _ |a Deutsches Zentrum für Neurodegenerative Erkrankungen
|0 I:(DE-588)1065079516
|k DZNE
|b 0
|6 P:(DE-2719)2812141
910 1 _ |a Deutsches Zentrum für Neurodegenerative Erkrankungen
|0 I:(DE-588)1065079516
|k DZNE
|b 1
|6 P:(DE-2719)9000092
910 1 _ |a Deutsches Zentrum für Neurodegenerative Erkrankungen
|0 I:(DE-588)1065079516
|k DZNE
|b 6
|6 P:(DE-2719)2810704
913 1 _ |a DE-HGF
|b Forschungsbereich Gesundheit
|l Erkrankungen des Nervensystems
|1 G:(DE-HGF)POF3-340
|0 G:(DE-HGF)POF3-344
|2 G:(DE-HGF)POF3-300
|v Clinical and Health Care Research
|x 0
914 1 _ |y 2015
915 _ _ |a DBCoverage
|0 StatID:(DE-HGF)0200
|2 StatID
|b SCOPUS
915 _ _ |a DBCoverage
|0 StatID:(DE-HGF)0300
|2 StatID
|b Medline
915 _ _ |a JCR
|0 StatID:(DE-HGF)0100
|2 StatID
|b J NEUROL : 2015
915 _ _ |a DBCoverage
|0 StatID:(DE-HGF)0310
|2 StatID
|b NCBI Molecular Biology Database
915 _ _ |a DBCoverage
|0 StatID:(DE-HGF)0600
|2 StatID
|b Ebsco Academic Search
915 _ _ |a Peer Review
|0 StatID:(DE-HGF)0030
|2 StatID
|b ASC
915 _ _ |a DBCoverage
|0 StatID:(DE-HGF)0199
|2 StatID
|b Thomson Reuters Master Journal List
915 _ _ |a WoS
|0 StatID:(DE-HGF)0110
|2 StatID
|b Science Citation Index
915 _ _ |a DBCoverage
|0 StatID:(DE-HGF)0150
|2 StatID
|b Web of Science Core Collection
915 _ _ |a WoS
|0 StatID:(DE-HGF)0111
|2 StatID
|b Science Citation Index Expanded
915 _ _ |a DBCoverage
|0 StatID:(DE-HGF)1030
|2 StatID
|b Current Contents - Life Sciences
915 _ _ |a DBCoverage
|0 StatID:(DE-HGF)1050
|2 StatID
|b BIOSIS Previews
915 _ _ |a IF < 5
|0 StatID:(DE-HGF)9900
|2 StatID
920 1 _ |0 I:(DE-2719)1110002
|k AG Höglinger 1
|l Translational Neurodegeneration
|x 0
920 1 _ |0 I:(DE-2719)5000049
|k Ext LMU Klinik
|l Ext LMU Klinik
|x 1
920 1 _ |0 I:(DE-2719)1111016
|k Clinical Dementia Research München
|l Clinical Dementia Research München
|x 2
980 _ _ |a journal
980 _ _ |a VDB
980 _ _ |a I:(DE-2719)1110002
980 _ _ |a I:(DE-2719)5000049
980 _ _ |a I:(DE-2719)1111016
980 _ _ |a UNRESTRICTED
999 C 5 |a 10.1097/01.GIM.0000154300.84107.75
|9 -- missing cx lookup --
|1 O Neudorfer
|p 119 -
|2 Crossref
|u Neudorfer O, Pastores GM, Zeng BJ et al (2005) Late-onset Tay-Sachs disease: phenotypic characterization and genotypic correlations in 21 affected patients. Genet Med 7:119–123. doi: 10.1097/01.GIM.0000154300.84107.75
|t Genet Med
|v 7
|y 2005
999 C 5 |a 10.1542/peds.2006-0588
|9 -- missing cx lookup --
|1 GH Maegawa
|p 1550 -
|2 Crossref
|u Maegawa GH, Stockley T, Tropak M et al (2006) The natural history of juvenile or subacute GM2 gangliosidosis: 21 new cases and literature review of 134 previously reported. Pediatrics 118:1550–1562. doi: 10.1542/peds.2006-0588
|t Pediatrics
|v 118
|y 2006
999 C 5 |1 PD Stenson
|y 2009
|2 Crossref
|u Stenson PD, Mort M, Ball EV et al (2009) The human mutation database: 2008 update. Genome Med 22:1–13. doi: 10.1186/gm13
999 C 5 |1 BH Paw
|y 1991
|2 Crossref
|u Paw BH, Wood LC, Neufeld EF (1991) A third mutation at the CpG dinucleotide of codon 504 and a silent mutation at codon 506 of the HEX A gene. Am J Hum Genet 48:1139–1146
999 C 5 |a 10.1136/jnnp.2008.147645
|9 -- missing cx lookup --
|1 BE Shapiro
|p 94 -
|2 Crossref
|u Shapiro BE, Natowicz MR (2009) Late-onset Tay-Sachs disease presenting as a childhood stutter. J Neurol Neurosurg Psychiatry 80:94–95. doi: 10.1136/jnnp.2008.147645
|t J Neurol Neurosurg Psychiatry
|v 80
|y 2009
999 C 5 |a 10.1073/pnas.86.7.2413
|9 -- missing cx lookup --
|1 BH Paw
|p 2413 -
|2 Crossref
|u Paw BH, Kaback MM, Neufeld EF (1989) Molecular basis of adult- onset and chronic GM2 gangliosidosis in patients of Ashkenazi Jewish origin: substitution of serine for glycine at position 269 of the α-subunit of β-hexosaminidase. Proc Natl Acad Sci USA 86:2413–2417. doi: 10.1073/pnas.86.7.2413
|t Proc Natl Acad Sci USA
|v 86
|y 1989
999 C 5 |a 10.1176/jnp.10.1.10
|9 -- missing cx lookup --
|1 GM MacQueen
|p 10 -
|2 Crossref
|u MacQueen GM, Rosebush PL, Mazurek MF (1998) Neuropsychiatric aspects of the adult variant of Tay-Sachs disease. J Neuropsychiatry Clin Neurosci 10:10–19. doi: 10.1176/jnp.10.1.10
|t J Neuropsychiatry Clin Neurosci
|v 10
|y 1998

LibraryCollectionCLSMajorCLSMinorLanguageAuthor
Marc 21