Results 131 to 140 of about 9,571 (221)

Assessment of motor deterioration in a cynomolgus macaque with neuronal ceroid lipofuscinosis type 2 disease using two behavioral analyses. [PDF]

J Vet Med Sci
Munesue Y, Ono F, Ageyama N, Yagami KI, Ishii K, Tamaoka A, Yasutomi Y, Shimozawa N.   +7 more
europepmc   +1 more source

Buffy Coat Score as a Biomarker of Treatment Response in Neuronal Ceroid Lipofuscinosis Type 2. [PDF]

Brain Sci, 2023
Sivananthan S, Lee L, Anderson G, Csanyi B, Williams R, Gissen P.   +5 more
europepmc   +1 more source

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

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

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

CLN5 : from mutation to defective protein and clinical phenotype [PDF]

, 2004
Holmberg, Ville
core  

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