Results 111 to 120 of about 1,071 (153)

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

Discovery and Biosynthesis of the Novel Glycotetrapeptide Antibiotic Biffamycin A. [PDF]

Angew Chem Int Ed Engl
Brigham MW, Hems ES, Van DCL, Clarke JE, Nepogodiev S, Adamson JSP, Bassi C, Webb ME, Hemsworth GR, Munro OQ, Wilkinson B, Seipke RF.   +11 more
europepmc   +1 more source

Adult-onset neuronal ceroid lipofuscinosis misdiagnosed as autoimmune encephalitis and normal-pressure hydrocephalus: A 10-year case report and case-based review. [PDF]

Medicine (Baltimore)
Huang H, Liao Y, Yu Y, Qin H, Wei YZ, Cao L.   +5 more
europepmc   +1 more source

Editorial: Neuronal ceroid lipofuscinosis: molecular genetics and epigenetics. [PDF]

Front Genet
Nicolaou P.
europepmc   +1 more source

Loss of the ER-cargo protein CLN8 increases severity of acute pancreatitis and upregulates ER-stress and ER-phagy. [PDF]

Mol Biomed
Zierke L, Gischke M, Sendler M, Weiss FU, Ribback S, Skowronek D, Rath M, Völzke H, Lerch MM, Aghdassi AA.   +9 more
europepmc   +1 more source

High Diagnostic Yield and Clinical Utility of Next-Generation Sequencing in Children with Epilepsy and Neurodevelopmental Delays: A Retrospective Study. [PDF]

Int J Mol Sci
Charouf D, Miller D, Haddad L, White FA, Boustany RM, Obeid M.   +5 more
europepmc   +1 more source