Results 141 to 150 of about 7,809 (216)

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

The landscape of pediatric genetic white matter disorders at a tertiary referral hospital in Upper Egypt and the report of 31 novel variants. [PDF]

Ital J Pediatr
Noureldeen MM, Zaki MS, Rafat K, Abdel-Hamid MS, Salem AMS.   +4 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

Subacute Juvenile Sandhoff Disease: A Progressive Neurodegenerative Disorder. [PDF]

Int J Clin Pediatr Dent
Kadam BD, Jampanapalli SR, Ranganathan R, Rayella H.   +3 more
europepmc   +1 more source

Natural history progression of MRI brain volumetrics in type II late-infantile and juvenile GM1 gangliosidosis patients. [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

Editorial: Role of neuroimaging in the diagnosis and treatment of rare diseases. [PDF]

Front Neuroimaging
Shazeeb MS, Acosta MT, Tifft CJ.
europepmc   +1 more source

Systematic Review of Patient Focused Drug Development Meeting Reports for Conditions Affecting Neurodevelopment. [PDF]

Ther Innov Regul Sci
Farmer C, Kim V, Das T, Cutler S, Wallis H, Thurm A.   +5 more
europepmc   +1 more source

Synthesis, function, and therapeutic potential of glycosphingolipids. [PDF]

Front Immunol
Dong L, Cao Z, Han W, Wu Z.
europepmc   +1 more source

Insights into the Pathobiology of GM1 Gangliosidosis from Single-Nucleus Transcriptomic Analysis of CNS Cells in a Mouse Model. [PDF]

Int J Mol Sci
Liu S, Xie T, Huang Y.
europepmc   +1 more source

Infection of a β-galactosidase-deficient mouse strain with Theiler's murine encephalomyelitis virus reveals limited immunological dysregulations in this lysosomal storage disease. [PDF]

Front Immunol
Wannemacher R, Stegmann F, Eikelberg D, Bühler M, Li D, Kohale SK, Asawapattanakul T, Ebbecke T, Raulf MK, Baumgärtner W, Lepenies B, Gerhauser I.   +11 more
europepmc   +1 more source