Results 141 to 150 of about 6,644 (221)

Palmitoyl-Protein Thioesterase 1 (PPT1) Protein, Linked to Neuronal Ceroid Lipofuscinosis 1, Is a Major Constituent of Ageing-Related Human Neuronal Lipofuscin. [PDF]

Neuropathol Appl Neurobiol
Anstötz M, Tschirner S, May C, Kösters S, Martin C, Caspers S, Aronica E, Bidmon HJ, Marcus K, Korth C.   +9 more
europepmc   +1 more source

Cardiac magnetic resonance findings in neuronal ceroid lipofuscinosis: A case report. [PDF]

Front Neurol, 2022
Todiere G, Della Vecchia S, Morales MA, Barison A, Ricca I, Tessa A, Colombi E, Santorelli FM.   +7 more
europepmc   +1 more source

Elevated tripeptidyl-peptidase 1 corrects multiple disease phenotypes in a mouse model of juvenile neuronal ceroid lipofuscinosis. [PDF]

Mol Ther Methods Clin Dev
Banach-Petrosky W, Larrimore KE, Sleat EH, Bazer A, Samuels B, Tan Y, Melton AC, Ichida JK, Logan TP, Lobel P, Sleat DE.   +10 more
europepmc   +1 more source

Activation of PPARα Exhibits Therapeutic Efficacy in a Mouse Model of Juvenile Neuronal Ceroid Lipofuscinosis. [PDF]

J Neurosci, 2023
Jana M, Dutta D, Poddar J, Pahan K.
europepmc   +1 more source

Long-Term Open-Label Study Evaluating Oral Miglustat Treatment in Patients With Neuronal Ceroid Lipofuscinosis Type 3. [PDF]

Neurology
Pietrafusa N, Trivisano M, Calabrese C, De Dominicis A, Cappelletti S, Correale C, Salimbene L, Vallesi L, Corsetti T, Specchio N.   +9 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

Atypical Parkinsonism with Pathological Dopamine Transporter Imaging in Neuronal Ceroid Lipofuscinosis Type 5. [PDF]

Mov Disord Clin Pract, 2022
Lange LM, Schell N, Tunc S, Shoukier M, Weißbach A, Hellenbroich Y, Brüggemann N.   +6 more
europepmc   +1 more source

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

Safety and feasibility of umbilical cord blood transplantation in children with neuronal ceroid lipofuscinosis: a retrospective study. [PDF]

Stem Cells Transl Med
Bauchat A, Polishchuk V, Fabrizio VA, Brondon JE, Page KM, Driscoll TA, Martin PL, Mahadeo KM, Kurtzberg J, Prasad VK.   +9 more
europepmc   +1 more source

Adult-Onset Neuronal Ceroid Lipofuscinosis: <i>CLN5</i> Variant Presenting as Focal Dystonia. [PDF]

Tremor Other Hyperkinet Mov (N Y)
Madhavi K, Kandadai RM, Kola S, Borgohain R, Alugolu R, Prasad V, Nandeesh BN, Govindaraj P.   +7 more
europepmc   +1 more source