Results 31 to 40 of about 6,644 (221)

Cardiac Involvement in Batten Disease

Pediatric Neurology Briefs, 2011
The onset and progression of cardiac involvement in juvenile neuronal ceroid lipofuscinosis (Batten disease) are studied in 29 children and adolescents with genetically verified disease at Aarhus University Hospital, Skejby, Denmark.
J Gordon Millichap
doaj   +1 more source

Individuals with progranulin haploinsufficiency exhibit features of neuronal ceroid lipofuscinosis [PDF]

, 2017
Individuals with heterozygous GRN mutations exhibit clinicopathological hallmarks of neuronal ceroid lipofuscinosis.
Ari J. Green, Connor Ludwig, Eric J. Huang, John F. Staropoli, Bigio, Eileen, Ludwig, Connor, Helene Boudin, Andres Cruz-Herranz, Mackenzie, Ian R, Jeffrey M. Gelfand, Ward, Michael E, Minami, Sakura S, Christian Cordano, Shannon Leslie, Marek-Marsel Mesulam, Meredith Reichert, Staropoli, John, Seeley, William W, Staropoli, John F, Ward, Michael, Gelfand, Jeffrey M, Cotman, Susan L, Cotman, Susan, Mesulam, Marek-Marsel, Mackenzie, Ian, Minami, Sakura, Telpoukhovskaia, Maria, Miller, Bruce, Hsin-Yi Huang, Alavi, Marcel V, Sakura S. Minami, Li Gan, Ian R. Mackenzie, Susan L. Cotman, Reichert, Meredith, Huang, Eric, Gan, Li, Boudin, Helene, Marcel V. Alavi, Matthew S. Bogyo, Eileen Bigio, Robert Chen, Gelfand, Jeffrey, Michael E. Ward, Philipp Albrecht, Maria Telpoukhovskaia, Miller, Bruce L, Alavi, Marcel, Leslie, Shannon, Taubes, Ali, Ali Taubes, Green, Ari J, Huang, Hsin-Yi, Huang, Eric J, Bogyo, Matthew, Bruce L. Miller, Seeley, William, Cruz-Herranz, Andres, Bogyo, Matthew S, William W. Seeley, Green, Ari, Albrecht, Philipp, Cordano, Christian, Chen, Robert   +63 more
core   +1 more source

Cerolipofuscinose: estudo ultrastrutural de 8 casos.

Acta Médica Portuguesa, 1989
The authors studied the clinical and ultrastructural features of 8 cases of Neuronal Ceroid-Lipofuscinosis (NCL). Five cases of the late-infantile type and 3 cases of the juvenile type.
C Matias, A Cabral, T Tasso, R Portela, A Jorge, J F Nunes, J Soares   +6 more
doaj   +1 more source

Autophagy in the Neuronal Ceroid Lipofuscinoses (Batten Disease)

Frontiers in Cell and Developmental Biology, 2022
The neuronal ceroid lipofuscinoses (NCLs), also referred to as Batten disease, are a family of neurodegenerative diseases that affect all age groups and ethnicities around the globe. At least a dozen NCL subtypes have been identified that are each linked
William D. Kim, Morgan L. D. M. Wilson-Smillie, Aruban Thanabalasingam, Stephane Lefrancois, Stephane Lefrancois, Stephane Lefrancois, Susan L. Cotman, Robert J. Huber   +7 more
doaj   +1 more source

Phenotypic characterization of a mouse model of juvenile neuronal ceroid lipofuscinosis

Neurobiology of Disease, 2008
Juvenile neuronal ceroid lipofuscinosis (JNCL) is an autosomal recessively inherited neurodegenerative disorder that results from mutations in the CLN3 gene.
Martin L. Katz, Gary S. Johnson, Gregory E. Tullis, Bo Lei   +3 more
doaj   +1 more source

Neuronal Ceroid Lipofuscinosis: A Common Pathway? [PDF]

Pediatric Research, 2007
The neuronal ceroid lipofuscinoses are pediatric neurodegenerative diseases with common clinical features. Of the nine clinical variants (CLN1-CLN9), six have been genetically identified. Most variants manifest cell death and dysregulated sphingolipid metabolism, suggesting the proteins defective in these disorders may interact along one pathway.
Dixie-Ann, Persaud-Sawin, Talal, Mousallem, Christine, Wang, Adam, Zucker, Eiki, Kominami, Rose-Mary N, Boustany   +5 more
openaire   +2 more sources

Clinical, MRI, and Genetic Findings in Batten Disease

Pediatric Neurology Briefs, 1998
The correlation of clinical, MRI and genetic factors in 36 patients with Batten disease (juvenile-onset neuronal ceroid lipofuscinosis) followed up for 25 years is reported from the Department of Paediatric Neurology, University of Helsinki, Finland, and
J Gordon Millichap
doaj   +1 more source

Progressive retinal degeneration and glial activation in the Cln6nclf mouse model of neuronal ceroid lipofuscinosis : a beneficial effect of DHA and Curcumin supplementation

, 2013
Neuronal ceroid lipofuscinosis (NCL) is a group of neurodegenerative lysosomal storage disorders characterized by vision loss, mental and motor deficits, and spontaneous seizures.
Monica Langiu, Myriam Mirza, Langiu, Monica, Tamm, Ernst R., Mirza, Myriam, Langmann, Thomas, Ernst R. Tamm, Aleksandra Somogyi, Marcus Karlstetter, Mika O. Ruonala, Volz, Cornelia, Jägle, Herbert, Herbert Jägle, Ernst R Tamm, Somogyi, Aleksandra, Cornelia Volz, Thomas Langmann, Mika O Ruonala, Karlstetter, Marcus, Ruonala, Mika O.   +19 more
core   +1 more source

Distinct early molecular responses to mutations causing vLINCL and JNCL presage ATP synthase subunit C accumulation in cerebellar cells. [PDF]

PLoS ONE, 2011
Variant late-infantile neuronal ceroid lipofuscinosis (vLINCL), caused by CLN6 mutation, and juvenile neuronal ceroid lipofuscinosis (JNCL), caused by CLN3 mutation, share clinical and pathological features, including lysosomal accumulation of ...
Yi Cao, John F Staropoli, Sunita Biswas, Janice A Espinola, Marcy E MacDonald, Jong-Min Lee, Susan L Cotman   +6 more
doaj   +1 more source

Case Report: Novel MFSD8 Variants in a Chinese Family With Neuronal Ceroid Lipofuscinoses 7

Frontiers in Genetics, 2022
Neuronal ceroid lipofuscinoses (NCLs) are among the most common progressive encephalopathies of childhood. Neuronal ceroid lipofuscinosis 7 (CLN7), one of the late infantile-onset NCLs, is an autosomal recessive disorder caused by mutations in the MFSD8 ...
Yimeng Qiao, Yang Gu, Ye Cheng, Yu Su, Nan Lv, Qing Shang, Qinghe Xing, Qinghe Xing   +7 more
doaj   +1 more source