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Items: 1 to 20 of 36

1.
Topological Structural Brain Connectivity Alterations in Aspartylglucosaminuria: A Case-Control Study
U. Roine, A.M. Tokola, T. Autti, T. Roine
AJNR Am J Neuroradiol. 2023 Jan; 44(1): 40–46. doi: 10.3174/ajnr.A7745
PMCID:
PMC9835915
ArticlePDF–2.1M
2.
Detection of Aspartylglucosaminuria Patients from Magnetic Resonance Images by a Machine-Learning-Based Approach
Arttu Ruohola, Eero Salli, Timo Roine, Anna Tokola, Minna Laine, Ritva Tikkanen, Sauli Savolainen, Taina Autti
Brain Sci. 2022 Nov; 12(11): 1522. Published online 2022 Nov 10. doi: 10.3390/brainsci12111522
PMCID:
PMC9688716
ArticlePDF–1.9M
3.
A cross‐sectional natural history study of aspartylglucosaminuria
Kimberly Goodspeed, Daniel Horton, Andrea Lowden, Peter V. Sguigna, Timothy Booth, Zhiyue J. Wang, Veronica Bordes Edgar
JIMD Rep. 2022 Sep; 63(5): 425–433. Published online 2022 Jul 14. doi: 10.1002/jmd2.12294
PMCID:
PMC9458605
ArticlePDF–1.2M
4.
Towards Splicing Therapy for Lysosomal Storage Disorders: Methylxanthines and Luteolin Ameliorate Splicing Defects in Aspartylglucosaminuria and Classic Late Infantile Neuronal Ceroid Lipofuscinosis
Antje Banning, Ritva Tikkanen
Cells. 2021 Nov; 10(11): 2813. Published online 2021 Oct 20. doi: 10.3390/cells10112813
PMCID:
PMC8616534
ArticlePDF–7.6M
5.
Carlos II of Spain, ‘The Bewitched’: cursed by aspartylglucosaminuria?
Andrew Martin, Robert Heard, Victor S C Fung
BMJ Neurol Open. 2021; 3(2): e000072. Published online 2021 Sep 27. doi: 10.1136/bmjno-2020-000072
PMCID:
PMC8477247
ArticlePDF–485K
6.
Effectiveness of early hematopoietic stem cell transplantation in preventing neurocognitive decline in aspartylglucosaminuria: A case series
Arthavan Selvanathan, Jane Kinsella, Francesca Moore, Robert Wynn, Simon Jones, Peter J. Shaw, Bridget Wilcken, Kaustuv Bhattacharya
JIMD Rep. 2021 Sep; 61(1): 3–11. Published online 2021 May 5. doi: 10.1002/jmd2.12222
PMCID:
PMC8411101
ArticlePDF–1.1M
7.
Pre-clinical Gene Therapy with AAV9/AGA in Aspartylglucosaminuria Mice Provides Evidence for Clinical Translation
Xin Chen, Sarah Snanoudj-Verber, Laura Pollard, Yuhui Hu, Sara S. Cathey, Ritva Tikkanen, Steven J. Gray
Mol Ther. 2021 Mar 3; 29(3): 989–1000. Published online 2020 Nov 11. doi: 10.1016/j.ymthe.2020.11.012
PMCID:
PMC7934581
ArticlePDF–2.2M
8.
Statistical Permutation Test Reveals Progressive and Region-Specific Iron Accumulation in the Thalami of Children with Aspartylglucosaminuria
Viljami Sairanen, Anna Tokola, Ritva Tikkanen, Minna Laine, Taina Autti
Brain Sci. 2020 Oct; 10(10): 677. Published online 2020 Sep 27. doi: 10.3390/brainsci10100677
PMCID:
PMC7600807
ArticlePDF–1.6M
9.
Susceptibility-Weighted Imaging Findings in Aspartylglucosaminuria
A. Tokola, M. Laine, R. Tikkanen, T. Autti
AJNR Am J Neuroradiol. 2019 Nov; 40(11): 1850–1854. doi: 10.3174/ajnr.A6288
PMCID:
PMC6975119
ArticlePDF–1002K
10.
The T99K variant of glycosylasparaginase shows a new structural mechanism of the genetic disease aspartylglucosaminuria
Suchita Pande, Hwai‐Chen Guo
Protein Sci. 2019 Jun; 28(6): 1013–1023. Published online 2019 Apr 9. doi: 10.1002/pro.3607
PMCID:
PMC6511735
ArticlePDF–1.0M
11.
Optical coherence tomography features in brothers with aspartylglucosaminuria
Kimberly Goodspeed, Lana Harder, Samuel Hughes, Darrel Conger, Julia Taravella, Steven J Gray, Berge Minassian
Ann Clin Transl Neurol. 2018 Dec; 5(12): 1622–1626. Published online 2018 Oct 24. doi: 10.1002/acn3.672
PMCID:
PMC6292186
ArticlePDF–771K
12.
Biochemical and Structural Insights into an Allelic Variant Causing the Lysosomal Storage Disorder Aspartylglucosaminuria
Suchita Pande, William Bizilj, Hwai-Chen Guo
FEBS Lett. Author manuscript; available in PMC 2019 Aug 1.
Published in final edited form as: FEBS Lett. 2018 Aug; 592(15): 2550–2561. Published online 2018 Jul 23. doi: 10.1002/1873-3468.13190
PMCID:
PMC6119092
ArticlePDF–876K
13.
White Matter Microstructure and Subcortical Gray Matter Structure Volumes in Aspartylglucosaminuria; a 5-Year Follow-up Brain MRI Study of an Adolescent with Aspartylglucosaminuria and His Healthy Twin Brother
Tokola Anna, Brandstack Nina, Hakkarainen Antti, Salli Eero, Åberg Laura, Autti Taina
JIMD Rep. 2017; 35: 105–115. Published online 2017 Feb 10. doi: 10.1007/8904_2016_36
Correction in:
JIMD Rep. 2017; 35: 117.
PMCID:
PMC5609534
ArticlePDF–517K
14.
Identification of Small Molecule Compounds for Pharmacological Chaperone Therapy of Aspartylglucosaminuria
Antje Banning, Christina Gülec, Juha Rouvinen, Steven J. Gray, Ritva Tikkanen
Sci Rep. 2016; 6: 37583. Published online 2016 Nov 23. doi: 10.1038/srep37583
PMCID:
PMC5120323
ArticlePDF–1.8M
15.
Brain MRI findings in two Turkish pediatric patients with aspartylglucosaminuria
Ayşe Kartal, Kürşad Aydın
Neuroradiol J. 2016 Oct; 29(5): 310–313. Published online 2016 Aug 22. doi: 10.1177/1971400916665371
PMCID:
PMC5033095
Article
16.
Structural basis of a point mutation that causes the genetic disease Aspartylglucosaminuria
Lufei Sui, Damodharan Lakshminarasimhan, Suchita Pande, Hwai-Chen Guo
Structure. Author manuscript; available in PMC 2015 Dec 2.
Published in final edited form as: Structure. 2014 Dec 2; 22(12): 1855–1861. Published online 2014 Nov 13. doi: 10.1016/j.str.2014.09.014
PMCID:
PMC4271792
ArticlePDF–940K
17.
Carriers of the aspartylglucosaminuria genetic mutation and chronic arthritis
M Arvio, K Laiho, M Kauppi, M Peippo, P Leino, H Kautiainen, O Kaipiainen-Seppan..., I Mononen
Ann Rheum Dis. 2002 Feb; 61(2): 180–181. doi: 10.1136/ard.61.2.180
PMCID:
PMC1753996
SummaryPDF–60K
18.
Overgrowth of oral mucosa and facial skin, a novel feature of aspartylglucosaminuria
P. Arvio, M. Arvio, M. Kero, S. Pirinen, P. Lukinmaa
J Med Genet. 1999 May; 36(5): 398–404.
PMCID:
PMC1734365
SummaryPDF–239K
19.
Isolation of the liver N-aspartyl-beta-glucosaminidase in aspartylglucosaminuria.
H Savolainen
Biochem J. 1976 Mar 1; 153(3): 749–750. doi: 10.1042/bj1530749
PMCID:
PMC1172648
SummaryPage BrowsePDF–412K
20.
Human aspartylglucosaminidase. A biochemical and immunocytochemical characterization of the enzyme in normal and aspartylglucosaminuria fibroblasts.
N Enomaa, T Heiskanen, R Halila, R Sormunen, R Seppälä, M Vihinen, L Peltonen
Biochem J. 1992 Sep 1; 286(Pt 2): 613–618. doi: 10.1042/bj2860613
PMCID:
PMC1132942
SummaryPage BrowsePDF–2.2M

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