Results 121 to 130 of about 5,278 (187)

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

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

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

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

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

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

The landscape of pediatric genetic white matter disorders at a tertiary referral hospital in Upper Egypt and the report of 31 novel variants. [PDF]

Ital J Pediatr
Noureldeen MM, Zaki MS, Rafat K, Abdel-Hamid MS, Salem AMS.   +4 more
europepmc   +1 more source

A Niemann-Pick betegség felnőtt pszichiátriai vonatkozásai [PDF]

, 2015
Döme, Péter, Faludi, Gábor, Gonda, Xénia   +2 more
core  

UPLC-MS/MS High-Risk Screening for Sphingolipidoses Using Dried Urine Spots. [PDF]

Biomolecules
Martineau T, Maranda B, Auray-Blais C.
europepmc   +1 more source