Results 91 to 100 of about 2,912 (144)

Trends in the Engineering of Adeno-Associated Virus (AAV) for Precision Gene Delivery to the Central Nervous System (CNS). [PDF]

Int J Mol Sci
Oloruntimehin S, Malogolovkin A.
europepmc   +1 more source

Cerebrospinal delivery of a bidirectional AAV9 vector improves optic nerve and retinal pathology in a sheep model of Tay-Sachs disease. [PDF]

Mol Ther
Story BD, Thomasy SM, Adelman SA, Taghian T, Lopez Y, Ardon M, Shiraishi H, Khan S, Khan M, Do M, Benatti HR, Bertrand S, Prestigiacomo R, Gately R, Martin DR, Sena-Esteves M, Xie J, Gao G, Teixeira LBC, Shaw GC, Marsh-Armstrong N, Gray-Edwards HL.   +21 more
europepmc   +1 more source

Sphingolipidoses: expanding the spectrum of α-synucleinopathies. [PDF]

J Neural Transm (Vienna)
Erskine D, Bronowska AK, Outeiro TF, Attems J.   +3 more
europepmc   +1 more source

Epigenetic landscape in lysosomal storage disorders: mechanisms and modulation. [PDF]

Front Genet
Leal AF, Pachajoa H, Tomatsu S.
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

Advances in Diagnosis, Pathological Mechanisms, Clinical Impact, and Future Therapeutic Perspectives in Tay-Sachs Disease. [PDF]

Neurol Int
González-Sánchez M, Ramírez-Expósito MJ, Martínez-Martos JM.   +2 more
europepmc   +1 more source

Clinical and biochemical abnormalities in a feline model of GM2 activator deficiency. [PDF]

Mol Genet Metab
Beecy SJ, Gross AL, Maguire AS, Hoffman LMK, Diffie EB, Cuddon P, Kell P, Jiang X, Gray-Edwards HL, Martin DR.   +9 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

Genetic Modeling of Lysosomal Storage Disorders (LSDs) in the Brain-Midgut Axis of <i>Drosophila melanogaster</i> During Aging. [PDF]

Cells
Markaki SP, Kiose NM, Charitopoulou ZA, Kougioumtzoglou S, Velentzas AD, Stravopodis DJ.   +5 more
europepmc   +1 more source

Systematic Review of Patient Focused Drug Development Meeting Reports for Conditions Affecting Neurodevelopment. [PDF]

Ther Innov Regul Sci
Farmer C, Kim V, Das T, Cutler S, Wallis H, Thurm A.   +5 more
europepmc   +1 more source