Format
Sort by
Items per page

Send to

Choose Destination

Links from PubMed

Items: 1 to 20 of 94

1.

Genetic and pathological links between Parkinson's disease and the lysosomal disorder Sanfilippo syndrome.

Winder-Rhodes SE, Garcia-Reitböck P, Ban M, Evans JR, Jacques TS, Kemppinen A, Foltynie T, Williams-Gray CH, Chinnery PF, Hudson G, Burn DJ, Allcock LM, Sawcer SJ, Barker RA, Spillantini MG.

Mov Disord. 2012 Feb;27(2):312-5. doi: 10.1002/mds.24029. Epub 2011 Nov 18.

PMID:
22102531
2.

Identification and characterization of a novel homozygous deletion in the alpha-N-acetylglucosaminidase gene in a patient with Sanfilippo type B syndrome (mucopolysaccharidosis IIIB).

Champion KJ, Basehore MJ, Wood T, Destrée A, Vannuffel P, Maystadt I.

Mol Genet Metab. 2010 May;100(1):51-6. doi: 10.1016/j.ymgme.2010.01.004. Epub 2010 Jan 15.

PMID:
20138557
3.

Mouse model of Sanfilippo syndrome type B: relation of phenotypic features to background strain.

Gografe SI, Garbuzova-Davis S, Willing AE, Haas K, Chamizo W, Sanberg PR.

Comp Med. 2003 Dec;53(6):622-32.

PMID:
14727810
4.

Sanfilippo type B syndrome: five patients with an R565P homozygous mutation in the alpha-N-acetylglucosaminidase gene from the Okinawa islands in Japan.

Chinen Y, Tohma T, Izumikawa Y, Uehara H, Ohta T.

J Hum Genet. 2005;50(7):357-9. Epub 2005 Jun 3.

PMID:
15933803
5.

The molecular basis of Sanfilippo syndrome type B.

Zhao HG, Li HH, Bach G, Schmidtchen A, Neufeld EF.

Proc Natl Acad Sci U S A. 1996 Jun 11;93(12):6101-5.

6.

Mouse model of Sanfilippo syndrome type B produced by targeted disruption of the gene encoding alpha-N-acetylglucosaminidase.

Li HH, Yu WH, Rozengurt N, Zhao HZ, Lyons KM, Anagnostaras S, Fanselow MS, Suzuki K, Vanier MT, Neufeld EF.

Proc Natl Acad Sci U S A. 1999 Dec 7;96(25):14505-10.

7.

Lysosomal Dysfunction and α-Synuclein Aggregation in Parkinson's Disease: Diagnostic Links.

Moors T, Paciotti S, Chiasserini D, Calabresi P, Parnetti L, Beccari T, van de Berg WD.

Mov Disord. 2016 Jun;31(6):791-801. doi: 10.1002/mds.26562. Epub 2016 Feb 29. Review.

PMID:
26923732
8.

Cerebellar alpha-synuclein levels are decreased in Parkinson's disease and do not correlate with SNCA polymorphisms associated with disease in a Swedish material.

Westerlund M, Belin AC, Anvret A, Håkansson A, Nissbrandt H, Lind C, Sydow O, Olson L, Galter D.

FASEB J. 2008 Oct;22(10):3509-14. doi: 10.1096/fj.08-110148. Epub 2008 Jul 7.

PMID:
18606870
9.

Improved behavior and neuropathology in the mouse model of Sanfilippo type IIIB disease after adeno-associated virus-mediated gene transfer in the striatum.

Cressant A, Desmaris N, Verot L, Bréjot T, Froissart R, Vanier MT, Maire I, Heard JM.

J Neurosci. 2004 Nov 10;24(45):10229-39.

10.

NAGLU mutations underlying Sanfilippo syndrome type B.

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.

Am J Hum Genet. 1998 Jan;62(1):64-9.

11.

[Postnatal and prenatal diagnosis of mucopolysaccharidosis type III (Sanfilippo syndrome)].

Zhang WM, Shi HP, Meng Y, Li BT, Qiu ZQ, Liu JT.

Zhonghua Er Ke Za Zhi. 2008 Jun;46(6):407-10. Chinese.

PMID:
19099774
12.

Cyclin-G-associated kinase modifies α-synuclein expression levels and toxicity in Parkinson's disease: results from the GenePD Study.

Dumitriu A, Pacheco CD, Wilk JB, Strathearn KE, Latourelle JC, Goldwurm S, Pezzoli G, Rochet JC, Lindquist S, Myers RH.

Hum Mol Genet. 2011 Apr 15;20(8):1478-87. doi: 10.1093/hmg/ddr026. Epub 2011 Jan 21.

13.

Molecular basis of mucopolysaccharidosis type IIIB in emu (Dromaius novaehollandiae): an avian model of Sanfilippo syndrome type B.

Aronovich EL, Johnston JM, Wang P, Giger U, Whitley CB.

Genomics. 2001 Jun 15;74(3):299-305.

PMID:
11414757
14.

Association of polymorphism in rs2736990 of the α-synuclein gene with Parkinson's disease in a Chinese population.

Pan F, Ding H, Dong H, Ye M, Liu W, Cui G, Chen J, Wu Y, Wang H, Dai X, Shi H, Ding X.

Neurol India. 2013 Jul-Aug;61(4):360-4. doi: 10.4103/0028-3886.117595.

15.

Identification of a risk haplotype of the alpha-synuclein gene in Japanese with sporadic Parkinson's disease.

Kobayashi H, Ujike H, Hasegawa J, Yamamoto M, Kanzaki A, Sora I.

Mov Disord. 2006 Dec;21(12):2157-64.

PMID:
17078049
16.

Sanfilippo syndrome type B, a lysosomal storage disease, is also a tauopathy.

Ohmi K, Kudo LC, Ryazantsev S, Zhao HZ, Karsten SL, Neufeld EF.

Proc Natl Acad Sci U S A. 2009 May 19;106(20):8332-7. doi: 10.1073/pnas.0903223106. Epub 2009 May 5.

18.

Evaluation of the gamma-synuclein gene in German Parkinson's disease patients.

Krüger R, Schöls L, Müller T, Kuhn W, Woitalla D, Przuntek H, Epplen JT, Riess O.

Neurosci Lett. 2001 Sep 14;310(2-3):191-3.

PMID:
11585599
19.

Influence of microRNA deregulation on chaperone-mediated autophagy and α-synuclein pathology in Parkinson's disease.

Alvarez-Erviti L, Seow Y, Schapira AH, Rodriguez-Oroz MC, Obeso JA, Cooper JM.

Cell Death Dis. 2013 Mar 14;4:e545. doi: 10.1038/cddis.2013.73.

20.

Tau and alpha-synuclein in susceptibility to, and dementia in, Parkinson's disease.

Goris A, Williams-Gray CH, Clark GR, Foltynie T, Lewis SJ, Brown J, Ban M, Spillantini MG, Compston A, Burn DJ, Chinnery PF, Barker RA, Sawcer SJ.

Ann Neurol. 2007 Aug;62(2):145-53.

PMID:
17683088

Supplemental Content

Support Center