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Items: 1 to 20 of 30

1.
Juvenile GM2 gangliosidosis (AMB variant): inability to activate hexosaminidase A by activator protein.
K Inui, E E Grebner, L G Jackson, D A Wenger
Am J Hum Genet. 1983 Jul; 35(4): 551–564.
PMCID:
PMC1685728
SummaryPage BrowsePDF–1.7M
2.
Alpha-locus hexosaminidase genetic compound with juvenile gangliosidosis phenotype: clinical, genetic, and biochemical studies.
W G Johnson, C S Cohen, A F Miranda, S P Waran, A M Chutorian
Am J Hum Genet. 1980 Jul; 32(4): 508–518.
PMCID:
PMC1686138
SummaryPage BrowsePDF–1.1M
3.
The juvenile gangliosidoses: A timeline of clinical change
Kelly E. King, Sarah Kim, Chester B. Whitley, Jeanine R. Jarnes-Utz
Mol Genet Metab Rep. 2020 Dec; 25: 100676. Published online 2020 Nov 14. doi: 10.1016/j.ymgmr.2020.100676
PMCID:
PMC7674119
AbstractArticlePDF–1.3M
4.
Unusual case of Juvenile Tay-Sachs disease
Huma A Cheema, Nadia Waheed, Anjum Saeed
BMJ Case Rep. 2019; 12(9): e230140. Published online 2019 Sep 12. doi: 10.1136/bcr-2019-230140
PMCID:
PMC6747916
AbstractArticlePDF–139K
5.
The Natural History of Juvenile or Subacute GM2 Gangliosidosis: 21 New Cases and Literature Review of 134 Previously Reported
Gustavo H. B. Maegawa, Tracy Stockley, Michael Tropak, Brenda Banwell, Susan Blaser, Fernando Kok, Roberto Giugliani, Don Mahuran, Joe T. R. Clarke
Pediatrics. Author manuscript; available in PMC 2010 Jul 26.
Published in final edited form as: Pediatrics. 2006 Nov; 118(5): e1550–e1562. Published online 2006 Oct 2. doi: 10.1542/peds.2006-0588
PMCID:
PMC2910078
AbstractArticlePDF–705K
6.
Ethylenedioxy-PIP2 oxalate reduces ganglioside storage in juvenile Sandhoff disease mice
Julian R. Arthur, Michael W. Wilson, Scott D. Larsen, Hannah Rockwell, James A. Shayman, Thomas N. Seyfried
Neurochem Res. Author manuscript; available in PMC 2019 Jun 7.
Published in final edited form as: Neurochem Res. 2013 Apr; 38(4): 866–875. Published online 2013 Feb 16. doi: 10.1007/s11064-013-0992-5
PMCID:
PMC6554746
AbstractArticlePDF–829K
7.
Biomarkers of Central Nervous System Inflammation in Infantile and Juvenile Gangliosidoses
Jeanine R. Utz, Thomas Crutcher, Joseph Schneider, Patrick Sorgen, Chester B. Whitley
Mol Genet Metab. Author manuscript; available in PMC 2016 Feb 1.
Published in final edited form as: Mol Genet Metab. 2015 Feb; 114(2): 274–280. Published online 2014 Dec 6. doi: 10.1016/j.ymgme.2014.11.015
PMCID:
PMC4386860
AbstractArticlePDF–435K
8.
Distinct progression patterns of brain disease in infantile and juvenile gangliosidoses: Volumetric quantitative MRI study
Igor Nestrasil, Alia Ahmed, Josephine M. Utz, Kyle Rudser, Chester B. Whitley, Jeanine R. Jarnes-Utz
Mol Genet Metab. Author manuscript; available in PMC 2018 Mar 1.
Published in final edited form as: Mol Genet Metab. 2018 Feb; 123(2): 97–104. Published online 2017 Dec 20. doi: 10.1016/j.ymgme.2017.12.432
PMCID:
PMC5832355
AbstractArticlePDF–2.9M
9.
Atypical juvenile presentation of GM2 gangliosidosis AB in a patient compound-heterozygote for c.259G > T and c.164C > T mutations in the GM2A gene
Carla Martins, Catherine Brunel-Guitton, Anne Lortie, France Gauvin, Carlos R. Morales, Grant A. Mitchell, Alexey V. Pshezhetsky
Mol Genet Metab Rep. 2017 Jun; 11: 24–29. Published online 2017 Apr 7. doi: 10.1016/j.ymgmr.2017.01.017
PMCID:
PMC5388932
AbstractArticlePDF–427K
10.
Molecular basis of adult-onset and chronic GM2 gangliosidoses in patients of Ashkenazi Jewish origin: substitution of serine for glycine at position 269 of the alpha-subunit of beta-hexosaminidase.
B H Paw, M M Kaback, E F Neufeld
Proc Natl Acad Sci U S A. 1989 Apr; 86(7): 2413–2417. doi: 10.1073/pnas.86.7.2413
Correction in:
Proc Natl Acad Sci U S A. 1989 Jul; 86(14): 5625.
PMCID:
PMC286923
SummaryPage BrowsePDF–1.3M
11.
An unusual splicing mutation in the HEXB gene is associated with dramatically different phenotypes in patients from different racial backgrounds.
B McInnes, M Potier, N Wakamatsu, S B Melancon, M H Klavins, S Tsuji, D J Mahuran
J Clin Invest. 1992 Aug; 90(2): 306–314. doi: 10.1172/JCI115863
PMCID:
PMC443103
SummaryPage BrowsePDF–2.1M
12.
A third mutation at the CpG dinucleotide of codon 504 and a silent mutation at codon 506 of the HEX A gene.
B H Paw, L C Wood, E F Neufeld
Am J Hum Genet. 1991 Jun; 48(6): 1139–1146.
PMCID:
PMC1683090
SummaryPage BrowsePDF–1.4M
13.
GM2-gangliosidosis B1 variant: analysis of beta-hexosaminidase alpha gene mutations in 11 patients from a defined region in Portugal.
M R dos Santos, A Tanaka, M C sá Miranda, M G Ribeiro, M Maia, K Suzuki
Am J Hum Genet. 1991 Oct; 49(4): 886–890.
PMCID:
PMC1683169
SummaryPage BrowsePDF–962K
14.
Frequency of three Hex A mutant alleles among Jewish and non-Jewish carriers identified in a Tay-Sachs screening program.
B H Paw, P T Tieu, M M Kaback, J Lim, E F Neufeld
Am J Hum Genet. 1990 Oct; 47(4): 698–705.
PMCID:
PMC1683802
SummaryPage BrowsePDF–1.1M
15.
Estimation of the frequency of hexosaminidase a variant alleles in the American Jewish population.
D A Greenberg, M M Kaback
Am J Hum Genet. 1982 May; 34(3): 444–451.
PMCID:
PMC1685349
SummaryPage BrowsePDF–837K
16.
Miglustat Improves Purkinje Cell Survival and Alters Microglial Phenotype in Feline Niemann-Pick Disease Type C
Veronika M. Stein, Alexandra Crooks, Wenge Ding, Maria Prociuk, Patricia O’Donnell, Caroline Bryan, Tracey Sikora, Jasper Dingemanse, Marie T. Vanier, Steven U. Walkley, Charles H. Vite
J Neuropathol Exp Neurol. Author manuscript; available in PMC 2013 May 1.
Published in final edited form as: J Neuropathol Exp Neurol. 2012 May; 71(5): 434–448. doi: 10.1097/NEN.0b013e31825414a6
PMCID:
PMC3352323
AbstractArticlePDF–3.3M
17.
Gangliosides and Gangliosidoses: Principles of Molecular and Metabolic Pathogenesis
Konrad Sandhoff, Klaus Harzer
J Neurosci. 2013 Jun 19; 33(25): 10195–10208. doi: 10.1523/JNEUROSCI.0822-13.2013
PMCID:
PMC6618597
AbstractArticlePDF–2.8M
18.
Natural History of Tay-Sachs Disease in Sheep
Brett Story, Toloo Taghian, Jillian Gallagher, Jey Koehler, Amanda Taylor, Ashley Randle, Kayly Nielsen, Amanda Gross, Annie Maguire, Sara Carl, Siauna Johnson, Deborah Fernau, Elise Diffie, Paul Cuddon, Carly Corado, Sundeep Chandra, Miguel Sena-Esteves, Edwin Kolodny, Xuntian Jiang, Douglas Martin, Heather Gray-Edwards
Mol Genet Metab. Author manuscript; available in PMC 2022 Sep 1.
Published in final edited form as: Mol Genet Metab. 2021 Sep-Oct; 134(1-2): 164–174. Published online 2021 Aug 21. doi: 10.1016/j.ymgme.2021.08.009
PMCID:
PMC8811770
AbstractArticlePDF–3.2M
19.
5岁男童进行性智力运动功能倒退2.5年
田 茂强, 陈 晓曦, 李 磊, 郎 长会, 李 娟, 陈 静, 余 小华, 束 晓梅
Zhongguo Dang Dai Er Ke Za Zhi. 2022 Jun 15; 24(6): 699–704. Chinese. doi: 10.7499/j.issn.1008-8830.2201048
PMCID:
PMC9250405
AbstractArticlePDF–1.9M
20.
Clinical and genetic features of a case with juvenile onset sandhoff disease
Jin-Hui Yin, Wen-Zheng Hu, Yue Huang
BMC Neurol. 2023; 23: 240. Published online 2023 Jun 21. doi: 10.1186/s12883-023-03267-7
PMCID:
PMC10286434
AbstractArticlePDF–1.1M

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