Results 121 to 130 of about 9,234 (203)

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

Novel insights into pathomechanisms of retinal neuronal degeneration and reactive gliosis in a murine model of G_M1-gangliosidosis. [PDF]

Sci Rep
Jubran L, Wannemacher R, Ulianytska A, Gerhauser I, Baumgärtner W, Leitzen E.   +5 more
europepmc   +1 more source

Differential tractography: an imaging marker for tissue degeneration in neurodegenerative diseases. [PDF]

Brain Commun
Lewis CJ, Vardar Z, Kühn AL, Johnston JM, D'Souza P, Yousef MH, Gahl WA, Shazeeb MS, Tifft CJ, Acosta MT.   +9 more
europepmc   +1 more source

Canine GM1-Gangliosidosis [PDF]

, 2020
openaire   +1 more source

Sinbaglustat is efficacious in GM2 gangliosidosis primarily through inhibition of GBA2 rather than GCS. [PDF]

Mol Ther Adv
Steiner MA, Vaillant C, Garzotti M, Gulinello M, VanBrakle ML, Ryge J, Mühlemann A, Dobrenis K, Welford RWD.   +8 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

Intracranial calcifications in DEGS1-Related Leukodystrophy: a potentially under-recognised neuroimaging feature. [PDF]

Neurol Sci
Vaia Y, Kim N, Jeyasingh S, Sudhakar S, Mankad K, Biswas A, Siddiqui A, Mundy H, Hedderly T, Singh RR.   +9 more
europepmc   +1 more source

Metabolomic Insights into Lysosomal Storage Diseases: An Untargeted View. [PDF]

Metabolites
Di Carlo G, Tommolini ML, Frisco A, Spalluto G, Foley D, Zucchelli M, Cufaro MC, Cicalini I, Bucci I, Federici L, De Laurenzi V, Pieragostino D, Rossi C.   +12 more
europepmc   +1 more source

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

Development of national biobank for lysosomal storage disorders in India- a step towards advancing research and precision medicine. [PDF]

Orphanet J Rare Dis
Sheth J, Nair A, Bhavsar R, Kamate M, Gowda VK, Bavdekar A, Kadam S, Nampoothiri S, Datar C, Panigrahi I, Kaur A, Shah S, Mehta S, Jagadeesan S, Suresh I, Prabha CR, Kapoor S, Bajaj S, Devi RR, Prajapati A, Godbole K, Patel H, Luhar Z, Shah RC, Iyer A, Bijarnia-Mahay S, Puri R, Muranjan M, Shah A, Magar S, Gupta N, Tayade N, Kabra M, Jalan A, Solanki D, Dalal A, Sheth F, Sheth H.   +37 more
europepmc   +1 more source