| 1 | MPS3B, NAGLU
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| A mild form of Mucopolysaccharidosis IIIB diagnosed with targeted next-generation sequencing of linked genomic regions.
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| Selmer KK, Gilfillan GD, Strømme P, Lyle R, Hughes T, Hjorthaug HS, Brandal K, Nakken S, Misceo D, Egeland T, Munthe LA, Braekken SK, Undlien DE.
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| Eur J Hum Genet 20(1):58-63. doi: 10.1038/ejhg.2011.126. Epub 2011 Jun 29.
2012
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| 2 | AKAP9, GOLGA2, MPS3B
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| GM130 gain-of-function induces cell pathology in a model of lysosomal storage disease.
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| Roy E, Bruyère J, Flamant P, Bigou S, Ausseil J, Vitry S, Heard JM.
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| Hum Mol Genet 21(7):1481-95. doi: 10.1093/hmg/ddr584. Epub 2011 Dec 12.
2012
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| 3 | MPS3B, NAGLU
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| Identification and characterization of a novel homozygous deletion in the alpha-N-acetylglucosaminidase gene in a patient with Sanfilippo type B syndrome (mucopolysaccharidosis IIIB).
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| Champion KJ, Basehore MJ, Wood T, Destrée A, Vannuffel P, Maystadt I.
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| Mol Genet Metab 100(1):51-6. Epub 2010 Jan 15.PMID: 20138557 2010
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| 4 | MPS3B, NAGLU
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| Sanfilippo syndrome type B, a lysosomal storage disease, is also a tauopathy.
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| Ohmi K, Kudo LC, Ryazantsev S, Zhao HZ, Karsten SL, Neufeld EF.
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| Proc Natl Acad Sci U S A 106(20):8332-7. Epub 2009 May 5.
2009
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| 5 | MPS3B, NAGLU
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| Innate and adaptive immune activation in the brain of MPS IIIB mouse model.
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| DiRosario J, Divers E, Wang C, Etter J, Charrier A, Jukkola P, Auer H, Best V, Newsom DL, McCarty DM, Fu H.
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| J Neurosci Res 87(4):978-90.
2009
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| 6 | NAGLU, MPS3B
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| Molecular analysis of mucopolysaccharidosis type IIIB in Portugal: evidence of a single origin for a common mutation (R234C) in the Iberian Peninsula.
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| Mangas M, Nogueira C, Prata MJ, Lacerda L, Coll MJ, Soares G, Ribeiro G, Amaral O, Ferreira C, Alves C, Coutinho MF, Alves S.
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| Clin Genet 73(3):251-6. Epub 2008 Jan 23. 2008
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| 7 | MPS3B, NAGLU
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| Structural and mechanistic insight into the basis of mucopolysaccharidosis IIIB.
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| Ficko-Blean E, Stubbs KA, Nemirovsky O, Vocadlo DJ, Boraston AB.
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| Proc Natl Acad Sci U S A 105(18):6560-5. Epub 2008 Apr 28.
2008
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| 8 | NAGLU, MPS3B
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| Sanfilippo type B syndrome: five patients with an R565P homozygous mutation in the alpha-N-acetylglucosaminidase gene from the Okinawa islands in Japan.
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| Chinen Y, Tohma T, Izumikawa Y, Uehara H, Ohta T.
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| J Hum Genet 50(7):357-9. Epub 2005 Jun 3. 2005
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| 9 | MPS3B, NAGLU
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| Sanfilippo B syndrome: molecular defects in Greek patients.
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| Beesley C, Moraitou M, Winchester B, Schulpis K, Dimitriou E, Michelakakis H.
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| Clin Genet 65(2):143-9. 2004
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| 10 | MPS3A, MPS3B, NAGLU, SGSH
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| Molecular genetics of mucopolysaccharidosis type IIIA and IIIB: Diagnostic, clinical, and biological implications.
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| Yogalingam G, Hopwood JJ.
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| Hum Mutat 18(4):264-81. 2001
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| 11 | MPS3B, NAGLU
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| Mucopolysaccharidosis type IIIB (Sanfilippo B) : identification of 18 novel alpha-N-acetylglucosaminidase gene mutations.
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| Bunge S, Knigge A, Steglich C, Kleijer WJ, van Diggelen OP, Beck M, Gal A.
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| J Med Genet 36 : 28-31. 1999
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| 12 | MPS3B, NAGLU
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| Sanfilippo type B syndrome (mucopolysaccharidosis III B): allelic heterogeneity corresponds to the wide spectrum of clinical phenotypes.
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| Weber B, et al.
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| Eur J Hum Genet 7(1):34-44. 1999
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| 13 | MPS3B, NAGLU
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| Genotype-phenotype correspondence in Sanfilippo syndrome type B.
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| Zhao HG, Aronovich EL, Whitley CB.
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| Am J Hum Genet 62(1):53-63. 1998
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| 14 | NAGLU, MPS3B
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| NAGLU mutations underlying Sanfilippo syndrome type B.
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| Schmidtchen A, Greenberg D, Zhao HG, Li HH, Huang Y, Tieu P, Zhao HZ, Cheng S, Zhao Z, Whitley CB, Di Natale P, Neufeld EF.
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| Am J Hum Genet 62(1):64-9. 1998
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| 15 | MPS3B, NAGLU
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| Cloning and expression of the gene involved in Sanfilippo B syndrome (mucopolysaccharidosis III B).
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| Weber B, et al.
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| Hum Mol Genet 5 : 771-777. 1996
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| 16 | MPS3B, NAGLU
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| The molecular basis of Sanfilippo syndrome type B.
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| Zhao HG, et al.
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| Proc Natl Acad Sci U S A 93 : 6101-6105. 1996
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