Results 101 to 110 of about 478 (122)

Batten disease (JNCL) is linked to disturbances in mitochondrial, cytoskeletal, and synaptic compartments

Journal of Neuroscience Research, 2006
AbstractIntracellular pathways leading to neuronal degeneration are poorly understood in the juvenile neuronal ceroid lipofuscinosis (JNCL, Batten disease), caused by mutations in the CLN3 gene. To elucidate the early pathology, we carried out comparative global transcript profiling of the embryonic, primary cultures of the Cln3−/− mouse neurons ...
Hannah Mitchison, Kaisu Luiro
exaly   +3 more sources

JNCL and CLOIS Activities and Member Organizations

Modern Language Journal, 1982
exaly   +2 more sources

Statistical properties of the jNCL scoring system according to Kohlschütter (1988)

Neuropediatrics, 2012
Alfried Kohlschütter
exaly   +2 more sources

Novel CLN3 mutation predicted to cause complete loss of protein function does not modify the classical JNCL phenotype

Neuroscience Letters, 2005
Juvenile Neuronal Ceroid Lipofuscinosis (JNCL), or Batten disease, is a childhood neurodegenerative disease that is characterized clinically by progressive visual loss, seizures, dementia, and motor incoordination. Children affected with this disease tend to develop normally for the first 5 years of life.
David Pearce, Jonathan Mink, Jill M Weimer   +2 more
exaly   +3 more sources

Methodology of clinical research in rare diseases: Development of a research program in juvenile neuronal ceroid lipofuscinosis (JNCL) via creation of a patient registry and collaboration with patient advocates [PDF]

Contemporary Clinical Trials, 2013
Juvenile neuronal ceroid lipofuscinosis (JNCL; Batten disease) is a rare, inherited, fatal lysosomal storage childhood disorder. True for many rare diseases, there are no treatments that impact the course of JNCL. The University of Rochester Batten Center's (URBC) mission is to find treatments to slow, halt, or prevent JNCL.Our initial objective was to
Erika F Augustine, Jonathan Mink, Paul G Rothberg   +2 more
exaly   +3 more sources

Juvenile Neuronal Ceroid Lipofuscinoses (JNCL)

2014
Juvenile neuronal ceroid lipofuscinosis (JNCL) is the most frequent neuronal ceroid lipofuscinosis (NCLs). It is a hereditary metabolic lysosomal neurodegenerative disease characterised by intracellular accumulation of autofluorescent material. Its heredity is autosomal recessive.
exaly   +2 more sources

JNCL/CLOIS Legislation Update I. LANGUAGE LEGISLATION

Foreign Language Annals, 1983
exaly   +2 more sources

Mechanisms of juvenile neuronal ceroid lipofuscinosis (JNCL)

Yi Chuan = Hereditas / Zhongguo Yi Chuan Xue Hui Bian Ji, 2009
Juvenile neuronal ceroid lipofuscinosis (JNCL) is one type of the neuronal ceroid lipofuscinosis (NCLs), which is a group of pediatric neurodegenerative disorders. The symptoms of JNCL are retinal degeneration (rd), seizures, cognitive, and motor decline.
Shi-Yao, Wang, Wei-Na, Jin, Dan, Wu
exaly   +4 more sources

Juvenile Neuronal Ceroid Lipofuscinosis (JNCL): Quantitative Description of Its Clinical Variability

Acta Paediatrica, International Journal of Paediatrics, 1988
ABSTRACT. The clinical courses of 17 JNCL patients were analyzed retrospectively with the use of a simple, disease‐specific scoring system. The mean observation period was 14 years (range 8–18 years). Scores of 0 (maximal dysfunction) to 3 (normal function) were assigned to each patient's vision, intellect, language, motor function, and epilepsy for ...
A, Kohlschütter, R, Laabs, M, Albani
exaly   +3 more sources

Low erythrocyte plasmalogen and plasma docosahexaenoic acid (DHA) in juvenile neuronal ceroid-lipofuscinosis (JNCL)

Journal of Inherited Metabolic Disease, 1993
A, Kohlschütter, B, Schade, B, Blömer, C, Hübner   +3 more
exaly   +3 more sources