Results 101 to 110 of about 4,199 (162)

Neuronal ceroid lipofuscinosis: underlying mechanisms and emerging therapeutic targets. [PDF]

Nat Rev Neurol
Ziółkowska EA, Takahashi K, Dickson PI, Sardiello M, Sands MS, Cooper JD.   +5 more
europepmc   +1 more source

Elevated tripeptidyl-peptidase 1 corrects multiple disease phenotypes in a mouse model of juvenile neuronal ceroid lipofuscinosis. [PDF]

Mol Ther Methods Clin Dev
Banach-Petrosky W, Larrimore KE, Sleat EH, Bazer A, Samuels B, Tan Y, Melton AC, Ichida JK, Logan TP, Lobel P, Sleat DE.   +10 more
europepmc   +1 more source

The yeast phosphofructokinase β-subunit has RNA unwinding activity and modulates cell cycle progression. [PDF]

Nucleic Acids Res
Albihlal WS, Matia-González AM, Schmidt T, Mayer W, Bryant J, Bushell M, Niessing D, Barberis M, Schmidt A, Heinisch JJ, Gerber AP.   +10 more
europepmc   +1 more source

Systemic AAV9 Gene Therapy Mitigates Neuromuscular Junction Degeneration and Muscle Atrophy in a Mouse Model of CLN1 Disease. [PDF]

Int J Mol Sci
Ziółkowska EA, Jablonka-Shariff A, Williams LL, Eultgen EM, Wood MD, Hunter DA, Sands MS, Snyder-Warwick AK, Cooper JD.   +8 more
europepmc   +1 more source

Impact of CLN3 Disease on Child Quality of Life and Family Function. [PDF]

Pediatr Neurol
Vermilion J, Augustine EF, Mink JW, McDermott MP, Vierhile A, Pereira-Freitas M, Adams HR.   +6 more
europepmc   +1 more source

Discovery of Functionalized 1<i>H</i>-Benzo[<i>d</i>]imidazoles That Confer Protective Effects in a Phenotypic CLN3 Disease Patient-Derived iPSC Model. [PDF]

J Med Chem
Simeon P, Venkatesan R, Hao X, Carmona AV, Daria S, Alnouti Y, Trippier PC.   +6 more
europepmc   +1 more source

Correction: CLN3 disease disrupts very early postnatal hippocampal maturation. [PDF]

Sci Rep
Singh JB, Burris DM, Bhuyan S, Thurston T, Oschmann A, Jankowski C, Lu W, Rabinowitz JD, Ahrens-Nicklas RC.   +8 more
europepmc   +1 more source

Genetic pleiotropy underlying obesity and autoimmune disorders: a large-scale cross-trait gwas analysis in European ancestry populations. [PDF]

J Transl Med
Jiang X, Li S, Zhang S, Li J, Liu D, Zhao H.   +5 more
europepmc   +1 more source

Evidence of the impact of CLN2 and CLN3 Batten disease on families in the United Kingdom. [PDF]

Orphanet J Rare Dis
Mole SE, Gissen P, Nordstrom S, Wait S, Allen L, Antonini M, Brownnutt L, Brown R, Cole B, Gibbon F, Henderson RH, Kenrick S, Sisic Z, Thompson B, Nightingale J.   +14 more
europepmc   +1 more source

Gut-Brain Interactions in Neuronal Ceroid Lipofuscinoses: A Systematic Review Beyond the Brain in Paediatric Dementias. [PDF]

Int J Mol Sci
Della Vecchia S, Marchese M, Simonati A, Santorelli FM.   +3 more
europepmc   +1 more source