Results 101 to 110 of about 1,071 (153)

Clinical Heterogeneity of Neuronal Ceroid Lipofuscinosis Type 13: A Case Report and Systematic Review of Literature. [PDF]

Neurol Genet
Ghayal NB, Roemer SF, Tipton PW, Jiang P, Selner EM, Peck DS, Murakami A, Oglesbee D, Graff-Radford NR, Dickson DW.   +9 more
europepmc   +1 more source

CoxKAN: Kolmogorov-Arnold networks for interpretable, high-performance survival analysis. [PDF]

Bioinformatics
Knottenbelt W, McGough W, Wray R, Zhang WZ, Liu J, Machado IP, Gao Z, Crispin-Ortuzar M.   +7 more
europepmc   +1 more source

Unifying biology of neurodegeneration in lysosomal storage diseases. [PDF]

J Inherit Metab Dis
Ludlaim AM, Waddington SN, McKay TR.
europepmc   +1 more source

A Comprehensive Perspective on Febrile Seizures in Children: A Prospective Cohort Study with Evaluation of Clinical, Laboratory, and Genetic Features. [PDF]

J Clin Med
Yalçın G, Yıldırım R, Unal E, Cebeci D, Ersen A, Özyılmaz B, Tekeş S, Anıl M, Gürbay A.   +8 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

Spectrum of Leukodystrophy and Genetic Leukoencephalopathy in Indian Population Diagnosed by Clinical Exome Sequencing and Clinical Utility. [PDF]

Neurol Genet
Manisha KY, Fasaludeen A, Poulose P, Menon R, Thomas B, Nair SS, Cherian A, Divya KP, Sundaram S.   +8 more
europepmc   +1 more source

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

Front Genet
Nicolaou P.
europepmc   +1 more source

CLN7 protein functions at the interface between endolysosomes and stress granules to promote cell survival. [PDF]

Cell Death Dis
Sharaireh A, Guevara-Ferrer M, Ludlaim AM, Humphries JD, Phillips AM, Dowsey AW, Zhang Z, Counsell JR, Unwin RD, Mole SE, Rahim AA, McKay TR.   +11 more
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

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