Results 131 to 140 of about 15,504 (206)

Corrigendum to "Natural history progression of MRI brain volumetrics in type II late-infantile and juvenile GM1 gangliosidosis patients" [Molecular Genetics and Metabolism 2025 Mar;144(3):109025]. [PDF]

Mol Genet Metab
Kolstad J, Zoppo C, Johnston JM, D'Souza P, Kühn AL, Vardar Z, Peker A, Hader A, Celik H, Lewis CJ, Lindsay C, Rentiya ZS, Lebel C, Vedantham S, Vachha B, Gray-Edwards HL, Acosta MT, Tifft CJ, Shazeeb MS.   +18 more
europepmc   +1 more source

GM1 gangliosidosis type 1 [PDF]

, 2020
openaire   +1 more source

Evaluation and treatment of severe hyperacusis [PDF]

, 2000
Duddy, Diane, Goebel, Joel, Peterin, Judy, Sinks, Belinda, Valente, Michael   +4 more
core   +1 more source

Elevated lactate dehydrogenase in a patient with late-infantile GM1-gangliosidosis

Brain and Development Case Reports
Kozue Kobayashi, Tatsuya Suito, Nodoka Hinokuma, Aya Narita, Mitsuhiro Kato   +4 more
semanticscholar   +1 more source

Secondary accumulation of lyso-platelet activating factors in lysosomal storage diseases. [PDF]

Mol Genet Metab
Kell P, Mishra S, Gray-Edwards HL, Martin DR, Gaudioso A, Ledesma MD, Bongarzone ER, Sands MS, Sidransky E, Ory DS, Jiang X.   +10 more
europepmc   +1 more source

Characterizing circulating biomarkers for childhood dementia disorders: A scoping review of clinical trials. [PDF]

Neurotherapeutics
D'Silva A, Barnes J, Djafar J, Bhattacharya K, Yan J, Mohammad S, Bandodkar S, Johnson A, Tchan M, Miteff C, Elvidge KL, Dale RC, Farrar M.   +12 more
europepmc   +1 more source

The Arg482His Mutation in the -Galactosidase Gene Is Responsible for a High Frequency of GM1 Gangliosidosis Carriers in a Cypriot Village. [PDF]

, 2005
Anastasiadou, V, Caciotti, A, Campos, Y, D&apos, Drousiotou, A., Georgiou, T, Morrone, Amelia, Stylianidou, G, Zammarchi, Enrico   +8 more
core   +1 more source

Plasma membrane remodeling in GM2 gangliosidoses drives synaptic dysfunction. [PDF]

PLoS Biol
Nicholson AS, Priestman DA, Antrobus R, Williamson JC, Bush R, McKie SJ, Barrow HG, Smith E, Dobrenis K, Bright NA, Platt FM, Deane JE.   +11 more
europepmc   +1 more source

Sequencing the Genome of the Domestic Cat Felis catus [PDF]

, 2002
Giger, Urs, Haskins, M. E., Lander, Eric S., Menotti-Raymond, Marilyn, Murphy, William J., O\u27Brien, Stephen J., Pederson, Niels C., Wildt, David E., Yuhki, Naoya   +8 more
core   +1 more source

Does Amyotrophic Lateral Sclerosis (ALS) Have Metabolic Causes from Human Evolution? [PDF]

Cells
Spedding M.
europepmc   +1 more source