Results 101 to 110 of about 3,421 (195)

Mutated CTSF in adult-onset neuronal ceroid lipofuscinosis and FTD [PDF]

, 2016
OBJECTIVE: To investigate the molecular basis of a Belgian family with autosomal recessive adult-onset neuronal ceroid lipofuscinosis (ANCL or Kufs disease [KD]) with pronounced frontal lobe involvement and to expand the findings to a cohort of unrelated
Ceuterick-De Groote, C., Cras, P., Crols, R., D'aes, T., Dillen, L., Engelborghs, S., Marien, P., Martin, J-J., Perrone, F., Sieben, A., Van Broeckhoven, C., van der Zee, J., Van Mossevelde, S., Verhoeven, J., Versijpt, J.   +14 more
core   +2 more sources

Neuronal ceroid lipofuscinoses: a clinical and morphological study of 17 patients from Southern Brazil Lipofuscinoses ceróides neuronais: estudo clínico e morfológico de 17 pacientes do Sul do Brasil

Arquivos de Neuro-Psiquiatria, 2000
The neuronal ceroid lipofuscinoses (NCL) are a group of inherited progressive neurodegenerative disorders with presentation from infancy to adulthood.
ANA CRISTINA S PUGA, LAURA B JARDIM, LEILA CHIMELLI, CAROLINA F M DE SOUZA, MARTA CLIVATI   +4 more
doaj   +1 more source

Adult onset thalamocerebellar degeneration in dogs associated to neuronal storage of ceroid lipopigment [PDF]

, 2018
Late onset of hereditary cerebellar cortical abiotrophy has been described in a large variety of canine breeds. In some reported conditions, the cerebellar lesion is combined with degeneration of other systems.
Hanzlíček, D., Navarro, C., Sisó, S., Vandevelde, M.   +3 more
core  

Refractory hyperactivity and Batten's disease – A Case Report

Archives of Mental Health, 2016
Attention deficit hyperactivity disorder (ADHD) is a psychiatric disorder of neurodevelopmental type characterized by inattentiveness, hyperactivity and impulsiveness.
Narayan R Mutalik, Vinayak Koparde, Devaraddi Navalli   +2 more
doaj  

[Neuronal ceroid lipofuscinoses].

Tidsskrift for den Norske laegeforening : tidsskrift for praktisk medicin, ny raekke, 2006
Neuronal ceroid lipofuscinoses (NCL) is a group of degenerative neurological diseases. The diseases are autosomally recessively inherited and are characterized by the accumulation of fluorescent ceroid and lipofuscin in neuronal cells in the brain and in extraneuronal cells.
Liv Berit, Augestad, Jørgen, Diderichsen   +1 more
openaire   +1 more source

CLN8 disease caused by large genomic deletions [PDF]

, 2017
BACKGROUND: The presence of deletions can complicate genetic diagnosis of autosomal recessive disease. METHOD: The DNA of patients was analyzed in a diagnostic setting.
Beesley, C, Bras, JT, Eltze, C, Guerreiro, RJ, Mole, SE, Taratuto, AL, Williams, RE   +6 more
core  

Rapid purification of human lysosomal membranes, characterisation of the detergent resistent microdomains, purification and reconstitution of the vacuolar proton pump (V-ATPase) [PDF]

, 2006
The lysosomal membrane is a dynamic environment where specific interactions among proteins and between proteins and lipids occur. These interactions are necessary for the proper functioning of the lysosomal apparatus that allows the passage of molecules ...
Chandramohanadas, Rajesh, Hasilik, Andrej (Prof. Dr.)   +1 more
core   +1 more source

Trehalose Ameliorates Zebrafish Emotional and Social Deficits Caused by CLN8 Dysfunction

Cells
CLN8 and other neuronal ceroid lipofuscinoses (NCLs) often lead to cognitive decline, emotional disturbances, and social deficits, worsening with disease progression.
Rosario Licitra, Stefania Della Vecchia, Lorenzo Santucci, Rachele Vivarelli, Sara Bernardi, Filippo M. Santorelli, Maria Marchese   +6 more
doaj   +1 more source

Cln5-deficiency in mice leads to microglial activation, defective myelination and changes in lipid metabolism

Neurobiology of Disease, 2012
CLN5 disease, late infantile variant phenotype neuronal ceroid lipofuscinosis, is a severe neurodegenerative disease caused by mutations in the CLN5 gene, which encodes a lysosomal protein of unknown function.
Mia-Lisa Schmiedt, Tea Blom, Tomas Blom, Outi Kopra, Andrew Wong, Carina von Schantz-Fant, Elina Ikonen, Mervi Kuronen, Matti Jauhiainen, Jonathan D. Cooper, Anu Jalanko   +10 more
doaj   +1 more source

Autologous bone marrow-derived mesenchymal stem cell transplantation as a therapy for neuronal ceroid lipofuscinosis [PDF]

The entire dissertation/thesis text is included in the research.pdf file; the official abstract appears in the short.pdf file (which also appears in the research.pdf); a non-technical general description, or public abstract, appears in the public.pdf ...
Sanders, Douglas N., 1973-
core   +1 more source