Results 91 to 100 of about 4,845,721 (162)

An Infantile Case of Sandhoff Disease Presenting With Swallowing Difficulty. [PDF]

Ann Rehabil Med, 2017
Moon JG, Shin MA, Pyo H, Choi SU, Kim HK.   +4 more
europepmc   +1 more source

Case of late-onset Sandhoff disease due to a novel mutation in the HEXB gene. [PDF]

Neurol Genet, 2018
Sung AR, Moretti P, Shaibani A.
europepmc   +1 more source

Metabolomics profiling reveals profound metabolic impairments in mice and patients with Sandhoff disease. [PDF]

Mol Genet Metab, 2019
Ou L, Przybilla MJ, Whitley CB.
europepmc   +1 more source

Canine GM2-Gangliosidosis Sandhoff Disease Associated with a 3-Base Pair Deletion in the HEXB Gene. [PDF]

J Vet Intern Med, 2018
Wang P, Henthorn PS, Galban E, Lin G, Takedai T, Casal M.   +5 more
europepmc   +1 more source

AAV-mediated gene delivery attenuates neuroinflammation in feline Sandhoff disease. [PDF]

Neuroscience, 2017
Bradbury AM, Peterson TA, Gross AL, Wells SZ, McCurdy VJ, Wolfe KG, Dennis JC, Brunson BL, Gray-Edwards H, Randle AN, Johnson AK, Morrison EE, Cox NR, Baker HJ, Sena-Esteves M, Martin DR.   +15 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

Clinical presentation and outcome in infantile Sandhoff disease: a case series of 25 patients from Iranian neurometabolic bioregistry with five novel mutations. [PDF]

Orphanet J Rare Dis, 2018
Tavasoli AR, Parvaneh N, Ashrafi MR, Rezaei Z, Zschocke J, Rostami P.   +5 more
europepmc   +1 more source

TSPO in a murine model of Sandhoff disease: presymptomatic marker of neurodegeneration and disease pathophysiology. [PDF]

Neurobiol Dis, 2016
Loth MK, Choi J, McGlothan JL, Pletnikov MV, Pomper MG, Guilarte TR.   +5 more
europepmc   +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

Juvenile Sandhoff disease.

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