Results 131 to 140 of about 3,090 (194)

GM2-Gangliosidosis, AB Variant: Clinical, Ophthalmological, MRI, and Molecular Findings. [PDF]

JIMD Rep, 2016
Renaud D, Brodsky M.
europepmc   +1 more source

Burden of caregiving of individuals with GM1 and GM2 gangliosidoses in the United States: a qualitative study. [PDF]

Orphanet J Rare Dis
Rodriguez MB, Pulikottil-Jacob R, Heuer K, Perez NG, Waggoner C, Jussila D, Gwaltney C, Krupnick R, Ng-Mak D.   +8 more
europepmc   +1 more source

Recessive Mutations in Encoding RNA Polymerase III Subunit Causing Diffuse Hypomyelination in Patients with 4H Leukodystrophy with Polymicrogyria and Cataracts [PDF]

core   +1 more source

Protease-resistant modified human β-hexosaminidase B ameliorates symptoms in GM2 gangliosidosis model. [PDF]

J Clin Invest, 2016
Kitakaze K, Mizutani Y, Sugiyama E, Tasaki C, Tsuji D, Maita N, Hirokawa T, Asanuma D, Kamiya M, Sato K, Setou M, Urano Y, Togawa T, Otaka A, Sakuraba H, Itoh K.   +15 more
europepmc   +1 more source

The second report of a new hypomyelinating disease due to a defect in the gene discloses a massive lysosomal involvement [PDF]

core   +1 more source

New multiplex LC-MS/MS method for lipid biomarker analysis of inherited neurodegenerative metabolic diseases. [PDF]

J Lipid Res
Sidorina A, Catesini G, Deodato F, Boenzi S, Martinelli D, Rizzo C, Dionisi-Vici C.   +6 more
europepmc   +1 more source

Long-term follow-up of a Tay-Sachs disease patient with cherry-red spot. [PDF]

Am J Ophthalmol Case Rep
Tsutsumi N, Sakata S, Ikari R, Ebihara N.   +3 more
europepmc   +1 more source

B4Galnt1 Deficiency Reverses Severe Neurological Symptoms in a Mouse Model of Tay-Sachs Disease. [PDF]

Neuromolecular Med
Yanbul S, Calıskan TU, Turali MC, Seyrantepe V.   +3 more
europepmc   +1 more source

Bioprinting neural tissue to decode Sandhoff disease: promise and barriers. [PDF]

Ann Med Surg (Lond)
Ullah SH, Waqas M, Fatima M, Talha M, Rehman UU.   +4 more
europepmc   +1 more source

Generation of mice with combined Hexa Gly269Ser KI or KO and Neu3 KO alleles to create new models of GM2 gangliosidoses. [PDF]

Biol Open
Barker EN, Ashiri M, Saville JT, Hemming R, Furletti N, Dhume SH, Yu S, Anjos E, Wu X, Fresnoza A, Merz DC, Jackson M, Del Bigio MR, Siddiqui TJ, Fuller M, Mark BL, Triggs-Raine B.   +16 more
europepmc   +1 more source