Results 101 to 110 of about 2,912 (167)

Brainstem Substructure Atrophy in Late-Onset GM2-Gangliosidosis Imaging Using Automated Segmentation. [PDF]

Cerebellum
Rowe OE, Rangaprakash D, Eichler FS, Schmahmann JD, Barry RL, Stephen CD.   +5 more
europepmc   +1 more source

Lysosomal free sialic acid storage disorder iPSC-derived neural cells display altered glycosphingolipid metabolism. [PDF]

Sci Rep
Sabir MS, Jovanovic VM, Ryu S, Sen C, Ormanoglu P, Pollard L, Steet R, Gahl WA, Huizing M, Tristan CA, Platt FM, Malicdan MCV.   +11 more
europepmc   +1 more source

Development of an Infantile GM2 Clinical Rating Scale: Remote Assessment of Clinically Meaningful Health-Related Function. [PDF]

J Child Neurol
Kiefer M, Simione M, Eichler FS, Townsend EL.   +3 more
europepmc   +1 more source

Clinical, Imaging, Genetic, and Disease Course Characteristics in Patients With GM2 Gangliosidosis: Beyond Age of Onset [PDF]

Neurology
Kern J, Böhringer J, Timmann D, Trollmann R, Stendel C, Kamm C, Röbl M, Santhanakumaran V, Groeschel S, Beck-Wödl S, Göricke S, Krägeloh-Mann I, Synofzik M.   +12 more
europepmc   +1 more source

Gangliosides in molecular interactions and cell regulation. [PDF]

J Biol Chem
Mlinac-Jerkovic K, Heffer M, Schnaar RL.
europepmc   +1 more source

Hidden Burden of Lipid Accumulation: A Clinical Case of Niemann-Pick Disease. [PDF]

Cureus
Ghonaimat RA, Shneikat A, Foudeh BM, Alsamhouri I.   +3 more
europepmc   +1 more source

Caregiver Reports of Neurodevelopmental Functions in Pediatric Lysosomal Storage Disorders: A Scoping Review. [PDF]

J Inherit Metab Dis
Gillan EM, Leiro B, Nagy A, Eichler F, Townsend EL.   +4 more
europepmc   +1 more source

The Case for Master Protocols for Rare Neurological Diseases. [PDF]

Ann Neurol
Vermilion J, Paganoni S, Plotkin SR, Quintana M, Calvert SB, Whiteman IT, Wang RY, Moore N, Augustine EF.   +8 more
europepmc   +1 more source

Late-onset GM2 gangliosidosis: magnetic resonance imaging, diffusion tensor imaging, and correlational fiber tractography differentiate Tay-Sachs and Sandhoff diseases. [PDF]

J Neurol
Lewis CJ, Chipman SI, Johnston JM, Acosta MT, Toro C, Tifft CJ.   +5 more
europepmc   +1 more source

Plasma Membrane Remodelling in GM2 Gangliosidoses Drives Synaptic Dysfunction

Nicholson AS, Priestman DA, Antrobus R, Williamson JC, Bush R, Barrow HG, Smith E, Dobrenis K, Bright NA, Platt FM, Deane JE.   +10 more
europepmc   +1 more source