Results 91 to 100 of about 1,188 (166)

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

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

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

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

Agrawal Disease (Megalencephalic Leukoencephalopathy with Subcortical Cysts): A Rare Neurological Case Report. [PDF]

Ann Afr Med
Davra SV, Srivastava R, Rawat P.
europepmc   +1 more source

Pediatric parkinsonism: clinical review and a proposed clinical algorithm. [PDF]

Front Neurol
Naranjo-Lobo V, Hidalgo-Bravo MJ, Munoz-Chesta D, Troncoso-Schifferli M.   +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

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

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