Crossref Citations
This article has been cited by the following publications. This list is generated based on data provided by
Crossref.
Shore, Shirah
Tomczak, Jerzy
Grebner, Eugene E.
and
Myerowitz, Rachel
1992.
An unusual genotype in an Ashkenazi Jewish patient with Tay-Sachs disease.
Human Mutation,
Vol. 1,
Issue. 6,
p.
486.
Brown, Charlotte A.
McInnes, Beth
Dodelson de Kremer, Raquel
and
Mahuran, Don J.
1992.
Characterization of two HEXB gene mutations in Argentinean patients with Sandhoff disease.
Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease,
Vol. 1180,
Issue. 1,
p.
91.
Akerman, B. R.
Zielenski, J.
Triggs-Raine, B. L.
Prence, E. M.
Natowicz, M. R.
Lim-Steele, J. S. T.
Kaback, M. M.
Mules, E. H.
Thomas, G. H.
Clarke, J. T. R.
and
Gravel, R. A.
1992.
A mutation common in non-jewish Tay-Sachs disease: Frequency and RNA studies.
Human Mutation,
Vol. 1,
Issue. 4,
p.
303.
Whitney, Michael A.
Saito, Hiroshi
Jakobs, Petra M.
Gibson, Rachel A.
Moses, Robb E.
and
Grompe, Markus
1993.
A common mutation in the FACC gene causes Fanconi anaemia in Ashkenazi Jews.
Nature Genetics,
Vol. 4,
Issue. 2,
p.
202.
Drucker, Liat
and
Navon, Ruth
1993.
Tay—Sachs disease in an israeli arab family: Try26→stop in the α-subunit of hexosaminidase A.
Human Mutation,
Vol. 2,
Issue. 5,
p.
415.
Whitney, Michael A.
Jakobs, Petra
Kaback, Michael
Moses, Robb E.
and
Grompe, Markus
1994.
The Ashkenazi Jewish Fanconi anemia mutation: Incidence among patients and carrier frequency in the at-risk population.
Human Mutation,
Vol. 3,
Issue. 4,
p.
339.
Poenaru, L.
and
Akli, S.
1994.
Molecular epidemiology of Tay-Sachs disease in Europe.
Biomedicine & Pharmacotherapy,
Vol. 48,
Issue. 8-9,
p.
341.
Strasberg, Paula
Warren, Irene
Skomorowski, Marie-Anne
and
Feigenbaum, Annette
1997.
Homozygosity for the common Ashkenazi Jewish Tay-Sachs +1 IVS-12 splice-junction mutation: First report.
Human Mutation,
Vol. 10,
Issue. 1,
p.
82.
Roy, Neeta S.
Windrem, Martha S.
and
Goldman, Steven A.
2004.
Myelin Biology and Disorders.
p.
259.
2006.
Atlas of Genetic Diagnosis and Counseling.
p.
943.
Martino, Sabata
Di Girolamo, Ilaria
Cavazzin, Chiara
Tiribuzi, Roberto
Galli, Rossella
Rivaroli, Anna
Valsecchi, Manuela
Sandhoff, Konrad
Sonnino, Sandro
Vescovi, Angelo
Gritti, Angela
and
Orlacchio, Aldo
2009.
Neural precursor cell cultures from GM2 gangliosidosis animal models recapitulate the biochemical and molecular hallmarks of the brain pathology.
Journal of Neurochemistry,
Vol. 109,
Issue. 1,
p.
135.
2009.
Oral and Maxillofacial Pathology.
p.
816.
2012.
Atlas of Genetic Diagnosis and Counseling.
p.
1973.
Yokoyama, Teruo
Nakamura, Seigo
Horiuchi, Emiko
Ishiyama, Miyako
Kawashima, Rei
Nakamura, Kazuo
Hasegawa, Kazuko
and
Yagishita, Saburo
2014.
Late onset GM2 gangliosidosis presenting with motor neuron disease: An autopsy case.
Neuropathology,
Vol. 34,
Issue. 3,
p.
304.
Walia, Jagdeep S
Altaleb, Naderah
Bello, Alexander
Kruck, Christa
LaFave, Matthew C
Varshney, Gaurav K
Burgess, Shawn M
Chowdhury, Biswajit
Hurlbut, David
Hemming, Richard
Kobinger, Gary P
and
Triggs-Raine, Barbara
2015.
Long-Term Correction of Sandhoff Disease Following Intravenous Delivery of rAAV9 to Mouse Neonates.
Molecular Therapy,
Vol. 23,
Issue. 3,
p.
414.
Chen, Harold
2016.
Atlas of Genetic Diagnosis and Counseling.
p.
1.
Chen, Harold
2017.
Atlas of Genetic Diagnosis and Counseling.
p.
2725.
Kuil, Laura E.
López Martí, Anna
Carreras Mascaro, Ana
van den Bosch, Jeroen C.
van den Berg, Paul
van der Linde, Herma C.
Schoonderwoerd, Kees
Ruijter, George J. G.
and
van Ham, Tjakko J.
2019.
Hexb enzyme deficiency leads to lysosomal abnormalities in radial glia and microglia in zebrafish brain development.
Glia,
Vol. 67,
Issue. 9,
p.
1705.
Ornaghi, Francesca
Sala, Davide
Tedeschi, Fabiana
Maffia, Maria Chiara
Bazzucchi, Martina
Morena, Francesco
Valsecchi, Manuela
Aureli, Massimo
Martino, Sabata
and
Gritti, Angela
2020.
Novel bicistronic lentiviral vectors correct β-Hexosaminidase deficiency in neural and hematopoietic stem cells and progeny: implications for in vivo and ex vivo gene therapy of GM2 gangliosidosis.
Neurobiology of Disease,
Vol. 134,
Issue. ,
p.
104667.
Rernglit, Waraporn
Sucharitakul, Jeerus
Schulte, Albert
and
Suginta, Wipa
2020.
Real-Time Electrochemical Measurement of N-Acetyl-ß-D-Glucosaminidase Activity, Using Redox-Tagged N-Acetyl-ß-D-Glucosaminide Hydrolysis as Proof-of-Principle.
IEEE Sensors Journal,
Vol. 20,
Issue. 14,
p.
7639.