Results 101 to 110 of about 474 (120)

Intracellular Trafficking of the JNCL Protein CLN3

Molecular Genetics and Metabolism, 1999
Juvenile neuronal ceroid lipofuscinosis is a lysosomal storage disease that causes visual impairment, progressive mental deterioration, and eventually death. A predominant 1.02-kb deletion as well as other mutations have been described in the CLN3 gene.
R E, Haskell, T A, Derksen, B L, Davidson   +2 more
openaire   +2 more sources

Evaluation of the possible role of coenzyme Q10 and vitamin E in juvenile neuronal ceroid-lipofuscinosis (JNCL)

Molecular Aspects of Medicine, 1997
The juvenile type of neuronal ceroid lipofuscinosis (JNCL) is a recessively inherited, progressive neurodegenerative disease. In this study the levels of the antioxidant factors coenzyme Q10 (CoQ10) and vitamin E (alpha-tocopherol) were measured in plasma samples of 29 JNCL patients and compared to 48 healthy controls.
Tuomas Westermarck, P Santavuori, F Atroshi   +2 more
exaly   +3 more sources

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

Neuropediatrics, 2012
A Kohlschütter, Angela Schulz
exaly   +2 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, M Albani
exaly   +3 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.
Jennifer M Kwon, Paul G Rothberg, 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
Elisabeth A De Blieck, Erika F Augustine, Paul G Rothberg   +2 more
exaly   +3 more sources

JNCL and CLOIS Activities and Member Organizations

Modern Language Journal, 1982
exaly   +2 more sources

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

Journal of Inherited Metabolic Disease, 1993
A Kohlschütter, C Hübner
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