Results 121 to 130 of about 1,294 (181)

Surrogate Biomarkers in Gene Therapy for Orphan Diseases: Validation, Application, and Regulatory Aspects. [PDF]

Int J Mol Sci
Ayupova AI, Solovyeva VV, Issa SS, Fayoud HJ, Rizvanov AA.   +4 more
europepmc   +1 more source

Imaging manifestations in infantile GM1 gangliosidosis: a rare lysosomal storage disorder: a paediatric case report. [PDF]

BJR Case Rep
Bhat S, Sharma S, Bhat S, Kaul A.
europepmc   +1 more source

Microglia-neuron crosstalk through Hex-GM2-MGL2 maintains brain homeostasis. [PDF]

Nature
Frosch M, Shimizu T, Wogram E, Amann L, Gruber L, Groisman AI, Fliegauf M, Schwabenland M, Chhatbar C, Zechel S, Rosewich H, Gärtner J, Quintana FJ, Buescher JM, Blank T, Binder H, Stadelmann C, Letzkus JJ, Hopf C, Masuda T, Knobeloch KP, Prinz M.   +21 more
europepmc   +1 more source

CNS-targeted base editing of the major late-onset Tay-Sachs mutation alleviates disease in mice. [PDF]

J Clin Invest
Allende ML, Kono M, Lee YT, Olmsted SM, Huso V, Bakir JY, Pratto F, Li C, Byrnes C, Tuymetova G, Zhu H, Tifft CJ, Proia RL.   +12 more
europepmc   +1 more source

Tourette syndrome: effects of acetyl-leucine in two individuals. [PDF]

J Neurol
Hofer EM, Musil R, Strupp L, Falkai P, Strupp M, Schindlbeck KA.   +5 more
europepmc   +1 more source

Morphological And Physiological Studies Of Neuronal Dysfunction In The Feline Gangliosidoses. [PDF]

, 1981
Walkley, Steven Upshaw
core   +1 more source

Imaging Epilepsy: Past, Passing, and to Come. [PDF]

Epilepsy Curr
Theodore WH, Inati SK, Adler S, Pearl PL, Mcdonald CR.   +4 more
europepmc   +1 more source

4-Phenylbutyric acid mitigates ER stress-induced neurodegeneration in the spinal cords of a GM2 gangliosidosis mouse model. [PDF]

Hum Mol Genet
Weaver FE, White E, Peek AM, Nurse CA, Austin RC, Igdoura SA.   +5 more
europepmc   +1 more source

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Therapeutic evaluation of GM2 gangliosidoses by ELISA using anti-GM2 ganglioside antibodies

Clinica Chimica Acta, 2007
GM2 gangliosidoses, including Tay-Sachs disease, Sandhoff disease and the AB variant, comprise deficiencies of beta-hexosaminidase isozymes and GM2 ganglioside activator protein associated with accumulation of GM2 ganglioside (GM2) in lysosomes and neurosomatic clinical manifestations.
Daisuke Tsuji
exaly   +3 more sources