Results 141 to 150 of about 6,625 (209)

Investigating Sandhoff Disease in Saskatchewan

, 2013
Sandhoff disease is an autosomal recessive lysosomal storage disease caused by mutations in the HEXB gene detrimentally affecting the enzyme β-hexosaminidase. A high incidence of Sandhoff disease has been reported in northern Saskatchewan. The variant of the disease present in the province causes the death of infants before 4 years of age.
openaire   +1 more source

Peripheral neuropathy in a family with Sandhoff disease and SH3TC2 deficiency. [PDF]

J Neurol, 2015
Grunseich C, Schindler AB, Chen KL, Bakar D, Mankodi A, Traslavina R, Ray-Chaudhury A, Lehky TJ, Baker EH, Maragakis NJ, Tifft CJ, Fischbeck KH.   +11 more
europepmc   +1 more source

Infantile Type Sandhoff Disease with Striking Brain MRI Findings and a Novel Mutation. [PDF]

Pol J Radiol, 2016
Beker-Acay M, Elmas M, Koken R, Unlu E, Bukulmez A.   +4 more
europepmc   +1 more source

Farber disease: Understanding a fatal childhood disorder and dissecting ceramide biology [PDF]

, 2013
Farber S, Mark S. Sands
core   +2 more sources

FcRγ-dependent immune activation initiates astrogliosis during the asymptomatic phase of Sandhoff disease model mice. [PDF]

Sci Rep, 2017
Ogawa Y, Sano T, Irisa M, Kodama T, Saito T, Furusawa E, Kaizu K, Yanagi Y, Tsukimura T, Togawa T, Yamanaka S, Itoh K, Sakuraba H, Oishi K.   +13 more
europepmc   +1 more source

Alterations in endo-lysosomal function induce similar hepatic lipid profiles in rodent models of drug-induced phospholipidosis and Sandhoff disease. [PDF]

J Lipid Res, 2017
Lecommandeur E, Baker D, Cox TM, Nicholls AW, Griffin JL.   +4 more
europepmc   +1 more source

Juvenile Sandhoff disease.

Indian pediatrics, 2001
A G, Unnikrishnan, S, Danda, M S, Seshadri   +2 more
openaire   +1 more source

Long-term correction of Sandhoff disease following intravenous delivery of rAAV9 to mouse neonates. [PDF]

Mol Ther, 2015
Walia JS, Altaleb N, Bello A, Kruck C, LaFave MC, Varshney GK, Burgess SM, Chowdhury B, Hurlbut D, Hemming R, Kobinger GP, Triggs-Raine B.   +11 more
europepmc   +1 more source

Biomarkers for disease progression and AAV therapeutic efficacy in feline Sandhoff disease. [PDF]

Exp Neurol, 2015
Bradbury AM, Gray-Edwards HL, Shirley JL, McCurdy VJ, Colaco AN, Randle AN, Christopherson PW, Bird AC, Johnson AK, Wilson DU, Hudson JA, De Pompa NL, Sorjonen DC, Brunson BL, Jeyakumar M, Platt FM, Baker HJ, Cox NR, Sena-Esteves M, Martin DR.   +19 more
europepmc   +1 more source

Myotonic Discharges in Infantile Sandhoff Disease

Canadian Journal of Neurological Sciences / Journal Canadien des Sciences Neurologiques
Monica Taing, Chantal Poulin, Kenneth A. Myers   +2 more
openaire   +2 more sources