Results 121 to 130 of about 1,285 (177)

PPARα and RXRα in the regulation of neuronal ceroid lipofuscinosis genes: implications for Batten disease therapy. [PDF]

NeuroImmune Pharm Ther
Chandra S, Pahan K.
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

Structural adaptability and hydrogen bonding in a dissymmetric pyrimidine thioether ligand. [PDF]

Acta Crystallogr C Struct Chem
Anoliefo K, Brown K, Hiscock LK, Boyle PD, Dawe LN.   +4 more
europepmc   +1 more source

Neuropsychiatric manifestations of Kufs disease. [PDF]

Indian J Psychiatry
Vijayan S, Selvaraj A.
europepmc   +1 more source

Neuronal Ceroid Lipofuscinosis-Concepts, Classification, and Avenues for Therapy. [PDF]

CNS Neurosci Ther
Zhang Y, Du B, Zou M, Peng B, Rao Y.
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

Lysosomal dysfunction, autophagic defects, and CLN5 accumulation underlie the pathogenesis of KCTD7-mutated neuronal ceroid lipofuscinoses. [PDF]

Autophagy, 2023
Wang Y, Wang H, Wang C.
europepmc   +1 more source

Iatrogenic cerebral amyloid angiopathy 30 years after childhood cadaveric dura mater transplantation: a case report. [PDF]

BMC Neurol
Takai I, Ogawa T, Oji Y, Yayama A, Imanishi Y, Taniguchi D, Matsuoka G, Kato M, Nakamura R, Watanabe M, Yamashiro K, Ikeuchi T, Hattori N, Urabe T.   +13 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

The involvement of Purkinje cells in progressive myoclonic epilepsy: Focus on neuronal ceroid lipofuscinosis.

Neurobiol Dis, 2023
Bernardi S, Gemignani F, Marchese M.
europepmc   +1 more source