Results 121 to 130 of about 2,137 (206)

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

Generalized Gangliosidoses [PDF]

, 2019
openaire   +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

Innovative Therapeutic Approaches for Improving Patient Life Condition with a Neurological Lysosomal Disease [PDF]

, 2012
Audrey Arfi, Daniel Scherman, Magali Richard   +2 more
core   +2 more sources

The role of sphingolipids in heart failure. [PDF]

Eur Heart J Open
Hamouche R, Summers SA, Holland WL, Navankasattusas S, Drakos SG, Tseliou E.   +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

Increasing β-hexosaminidase A activity using genetically modified mesenchymal stem cells. [PDF]

Neural Regen Res
Shaimardanova AA, Chulpanova DS, Solovyeva VV, Issa SS, Mullagulova AI, Titova AA, Mukhamedshina YO, Timofeeva AV, Aimaletdinov AM, Nigmetzyanov IR, Rizvanov AA.   +10 more
europepmc   +1 more source

MCV/Q, Medical College of Virginia Quarterly, Vol. 13 No. 4 [PDF]

, 1977

core   +1 more source