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000137899 1001_ $$0P:(DE-2719)2812141$$aStendel, Claudia$$b0$$eFirst author$$udzne
000137899 245__ $$aParanoid delusion as lead symptom in two siblings with late-onset Tay-Sachs disease and a novel mutation in the HEXA gene.
000137899 260__ $$aBerlin$$bSpringer73057$$c2015
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000137899 650_7 $$0EC 3.2.1.52$$2NLM Chemicals$$aHEXA protein, human
000137899 650_7 $$0EC 3.2.1.52$$2NLM Chemicals$$abeta-Hexosaminidase alpha Chain
000137899 650_2 $$2MeSH$$aAdult
000137899 650_2 $$2MeSH$$aAge of Onset
000137899 650_2 $$2MeSH$$aDelusions: etiology
000137899 650_2 $$2MeSH$$aDelusions: physiopathology
000137899 650_2 $$2MeSH$$aFemale
000137899 650_2 $$2MeSH$$aHumans
000137899 650_2 $$2MeSH$$aMale
000137899 650_2 $$2MeSH$$aMutation
000137899 650_2 $$2MeSH$$aParanoid Disorders: etiology
000137899 650_2 $$2MeSH$$aParanoid Disorders: physiopathology
000137899 650_2 $$2MeSH$$aSiblings
000137899 650_2 $$2MeSH$$aTay-Sachs Disease: complications
000137899 650_2 $$2MeSH$$aTay-Sachs Disease: genetics
000137899 650_2 $$2MeSH$$aTay-Sachs Disease: physiopathology
000137899 650_2 $$2MeSH$$aYoung Adult
000137899 650_2 $$2MeSH$$abeta-Hexosaminidase alpha Chain: genetics
000137899 7001_ $$0P:(DE-2719)9000092$$aGallenmüller, Constanze$$b1$$udzne
000137899 7001_ $$aPeters, Katrin$$b2
000137899 7001_ $$aBürger, Friederike$$b3
000137899 7001_ $$aGramer, Gwendolyn$$b4
000137899 7001_ $$0P:(DE-HGF)0$$aBiskup, Saskia$$b5
000137899 7001_ $$0P:(DE-2719)2810704$$aKlopstock, Thomas$$b6$$eLast author$$udzne
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000137899 999C5 $$1O Neudorfer$$2Crossref$$9-- missing cx lookup --$$a10.1097/01.GIM.0000154300.84107.75$$p119 -$$tGenet Med$$uNeudorfer 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$$v7$$y2005
000137899 999C5 $$1GH Maegawa$$2Crossref$$9-- missing cx lookup --$$a10.1542/peds.2006-0588$$p1550 -$$tPediatrics$$uMaegawa GH, Stockley T, Tropak M et al (2006) The natural history of juvenile or subacute GM2 gangliosidosis: 21 new cases and literature review of 134 previously reported. Pediatrics 118:1550–1562. doi: 10.1542/peds.2006-0588$$v118$$y2006
000137899 999C5 $$1PD Stenson$$2Crossref$$uStenson PD, Mort M, Ball EV et al (2009) The human mutation database: 2008 update. Genome Med 22:1–13. doi: 10.1186/gm13$$y2009
000137899 999C5 $$1BH Paw$$2Crossref$$uPaw 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$$y1991
000137899 999C5 $$1BE Shapiro$$2Crossref$$9-- missing cx lookup --$$a10.1136/jnnp.2008.147645$$p94 -$$tJ Neurol Neurosurg Psychiatry$$uShapiro 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$$v80$$y2009
000137899 999C5 $$1BH Paw$$2Crossref$$9-- missing cx lookup --$$a10.1073/pnas.86.7.2413$$p2413 -$$tProc Natl Acad Sci USA$$uPaw BH, Kaback MM, Neufeld EF (1989) Molecular basis of adult- onset and chronic GM2 gangliosidosis in patients of Ashkenazi Jewish origin: substitution of serine for glycine at position 269 of the α-subunit of β-hexosaminidase. Proc Natl Acad Sci USA 86:2413–2417. doi: 10.1073/pnas.86.7.2413$$v86$$y1989
000137899 999C5 $$1GM MacQueen$$2Crossref$$9-- missing cx lookup --$$a10.1176/jnp.10.1.10$$p10 -$$tJ Neuropsychiatry Clin Neurosci$$uMacQueen 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$$v10$$y1998