Results 141 to 150 of about 1,648 (197)

Modeling CLN6 Batten disease using rapidly differentiated IPSC neurons

Molecular Genetics and Metabolism
E. Choy, Maria Otero, Jaemin Kim, Derek Chan, Molly Easter, W. Dahlgren, Mahi Patel, Tyler M. Pierson   +7 more
semanticscholar   +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

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

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

(<i>E</i>)-2,4-Di-amino-5-{7-[(4-chloro-phen-yl)diazen-yl]-3,3-dimethyl-1-oxo-2,3,4,9-tetra-hydro-1<i>H</i>-xanthen-9-yl}-6-oxo-1,6-di-hydro-pyridine-3-carbo-nitrile di-methyl-formamide monosolvate. [PDF]

IUCrdata
Elgemeie GH, Metwally NH, Abd Al-Latif ESM, Jones PG.   +3 more
europepmc   +1 more source

Naturally occurring lysosomal storage disease consistent with neuronal ceroid lipofuscinosis in a group of 5 related captive rhesus macaques (<i>Macaca mulatta</i>). [PDF]

Vet Pathol
Olstad K, Pastenkos G, Barrera-Zarate J, Kanthaswamy S, Sammak R, Lemoy MJ.   +5 more
europepmc   +1 more source

Losartan API and Nitrosamines Impurities-Stability Profile Investigation Using HPLC, LC-MS, and In Silico Assessment. [PDF]

J Sep Sci
Martini PRR, Machioli LF, Santos BPD, Oliveira TF, Paula FR, Paim CS, Mendez ASL.   +6 more
europepmc   +1 more source

Genetic Reasons for Phenotypic Diversity in Neuronal Ceroid Lipofuscinoses and High-Resolution Imaging as a Marker of Retinal Disease. [PDF]

Ophthalmol Sci
Huey J, Gupta P, Wendel B, Liu T, Bharadwaj P, Schwartz H, Kelly JP, Chang I, Chao JR, Sabesan R, Nagiel A, Mustafi D.   +11 more
europepmc   +1 more source

Molecular Profiling of Polish Pediatric Patients with Epilepsy: A Single-Center Diagnostic Experience Using Next-Generation Sequencing. [PDF]

Genes (Basel)
Chałupczyńska B, Ciara E, Halat-Wolska P, Pollak A, Stawiński P, Jurkiewicz D, Piekutowska-Abramczuk D, Gawlik M, Pietrasik J, Cieślikowska A, Wicher D, Ulatowska A, Jedlińska D, Borkowska J, Chmielewski D, Dunin-Wąsowicz D, Kotulska-Jóźwiak K, Chrzanowska K, Madej-Pilarczyk A.   +18 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