Results 61 to 70 of about 795 (128)

CLN3 mediates chloride efflux from lysosomes. [PDF]

Neuron
Wang Y, Li K, Chen W, Chen C, Yong AJH, Zhang X, Tynan-La Fontaine M, Jan YN, Jan LY.   +8 more
europepmc   +1 more source

Whole exome screening of neurodevelopmental regression disorders in a cohort of Egyptian patients. [PDF]

Neurogenetics, 2023
Refeat MM, Naggar WE, Saied MME, Kilany A.   +3 more
europepmc   +1 more source

Linear Diagnostic Procedure Elicited by Clinical Genetics and Validated by mRNA Analysis in Neuronal Ceroid Lipofuscinosis 7 Associated with a Novel Non-Canonical Splice Site Variant in MFSD8. [PDF]

Genes (Basel), 2023
Pasquetti D, Marangi G, Orteschi D, Carapelle M, L'Erario FF, Venditti R, Maietta S, Battaglia DI, Contaldo I, Veredice C, Zollino M.   +10 more
europepmc   +1 more source

The RNA revolution in medicine: from gene regulation to clinical therapeutics. [PDF]

Anim Cells Syst (Seoul)
Jeong J, Jeong S.
europepmc   +1 more source

CLN5 deficiency impairs glucose uptake and uncovers PHGDH as a potential biomarker in Batten disease. [PDF]

Mol Psychiatry
Marchese M, Bernardi S, Vivarelli R, Doccini S, Santucci L, Ogi A, Licitra R, Zang J, Soliymani R, Mero S, Neuhauss SC, Ciarmoli L, Signore G, Lalowski MM, Santorelli FM.   +14 more
europepmc   +1 more source

Pediatric onset neuronal ceroid lipofuscinoses: Unraveling clinical and genetic specifications. [PDF]

Pak J Med Sci
Ahdi SG, Alvi JR, Ashfaq A, Sultan T.
europepmc   +1 more source

From Genomic Diagnosis to Personalized RNA Medicine: Advances in Next-Generation Sequencing and N-of-1 Antisense Oligonucleotide Therapies for Rare Genetic Diseases. [PDF]

Genes (Basel)
Rodriguez Carstens P, Moriyama H, Yokota T.   +2 more
europepmc   +1 more source

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

Individualized therapy development for rare diseases: individualized at every step of the way. [PDF]

Ther Adv Rare Dis
C Lauffer M, Yu T, Aarstma-Rus A.
europepmc   +1 more source

STING mediates lysosomal quality control and recovery through its proton channel function and TFEB activation in lysosomal storage disorders. [PDF]

Mol Cell
Tang Z, Xing C, Araszkiewicz A, Yang K, Huai W, Jeltema D, Dobbs N, Zhang Y, Sun LO, Yan N.   +9 more
europepmc   +1 more source