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Brain & Development, ISSN 0387-7604, 2008, Volume 31, Issue 7, pp. 499 - 502
Abstract The neuronal ceroid lipofuscinoses (NCLs) are a group of genetic progressive brain diseases of children and young adults, characterized by a decline... 
Neurology | Retinopathy | Neurodegeneration | Lysosomal storage disorder | Dementia | PROTEIN | GENE | DISEASE | MUTATION | CLINICAL NEUROLOGY | CATHEPSIN-D DEFICIENCY | Neuronal Ceroid-Lipofuscinoses - therapy | Diagnosis, Differential | Animals | Neuronal Ceroid-Lipofuscinoses - genetics | Humans | Age of Onset | Mutation | Neuronal Ceroid-Lipofuscinoses - diagnosis | Children | Neurons | Diseases
Journal Article
Cell, ISSN 0092-8674, 2001, Volume 107, Issue 4, pp. 513 - 523
In humans, low peak bone mass is a significant risk factor for osteoporosis. We report that LRP5, encoding the low-density lipoprotein receptor-related protein... 
MINERAL DENSITY | BIOCHEMISTRY & MOLECULAR BIOLOGY | MOUSE | OSTEOBLAST LINEAGE | MOLECULAR-CLONING | MICE | DIFFERENTIATION | BETA-CATENIN | OSTEOPOROSIS | CELL-DEATH | FAMILY | CELL BIOLOGY | Wnt2 Protein | Humans | Child, Preschool | Male | Bone Density - genetics | Wnt Proteins | Mesoderm - cytology | Wnt-5a Protein | Eye - embryology | Osteoporosis - genetics | Animals, Outbred Strains | Dishevelled Proteins | Bone Morphogenetic Proteins - pharmacology | Child | Organ Culture Techniques | Transforming Growth Factor beta | Signal Transduction | Chromosomes, Human, Pair 11 - genetics | Adaptor Proteins, Signal Transducing | Skull - cytology | Wnt3 Protein | Mice | Receptors, LDL - physiology | COS Cells | Species Specificity | LDL-Receptor Related Proteins | DNA, Complementary - genetics | Recombinant Fusion Proteins - physiology | Cercopithecus aethiops | Culture Media, Conditioned - pharmacology | Recombinant Proteins | Transfection | Receptors, LDL - deficiency | Stromal Cells - drug effects | Adult | Female | Phosphoproteins - physiology | Proteins - physiology | Receptors, LDL - genetics | Bone Morphogenetic Protein 2 | Low Density Lipoprotein Receptor-Related Protein-5 | Mice, Inbred C57BL | Zebrafish Proteins | Proto-Oncogene Proteins - genetics | Phosphoproteins - genetics | Eye Abnormalities - genetics | Genes, Recessive | Syndrome | Proteins - genetics | Animals | Proto-Oncogene Proteins - physiology | Heterozygote | Osteoblasts - metabolism | Stromal Cells - cytology | Wnt4 Protein | Osteoporosis | Bones | Density | Low density lipoproteins | Proteins | Cell research | Lipoproteins | Growth | Analysis | Physiological aspects | Receptors, LDL | Mesoderm | Osteoblasts | Recombinant Fusion Proteins | Eye | Life Sciences | Stromal Cells | Eye Abnormalities | Phosphoproteins | Proto-Oncogene Proteins | Bone Density | Biochemistry, Molecular Biology | Culture Media, Conditioned | Skull | Chromosomes, Human, Pair 11 | Bone Morphogenetic Proteins | DNA, Complementary
Journal Article
Iranian Journal of Child Neurology, ISSN 1735-4668, 01/2013, Volume 7, Issue 1, pp. 1 - 8
Dementia in children or young adults is most frequently caused by neuronal ceroidlipofuscinoses (NCL), a group of incurable lysosomal storage disorders linked... 
Journal Article
Molecular Genetics and Metabolism, ISSN 1096-7192, 02/2016, Volume 117, Issue 2, pp. S84 - S84
Journal Article
JAMA Neurology, ISSN 2168-6149, 09/2016, Volume 73, Issue 9, pp. 1133 - 1133
Importance: Allogeneic hematopoietic stem cell transplantation (HSCT) has been the only treatment option clinically available during the last 20 years for... 
Journal Article
DMW - Deutsche Medizinische Wochenschrift, ISSN 0012-0472, 03/2008, Volume 105, Issue 32, pp. 1119 - 1121
Zusammenfassung Bei 15 von 41 Patienten mit vermuteter oder gesicherter Neurosyphilis wurde mit einem Radioimmunoassay basisches Myelinprotein (BMP) im Liquor... 
Journal Article
Molecular Genetics and Metabolism, ISSN 1096-7192, 2012, Volume 105, Issue 2, pp. S49 - S49
Journal Article
Journal Article
Journal of Child Neurology, ISSN 0883-0738, 11/2016, Volume 31, Issue 13, pp. 1457 - 1463
Journal Article
Journal Article
Monatsschrift Kinderheilkunde, ISSN 0026-9298, 1/2016, Volume 164, Issue 1, pp. 37 - 42
Kinder mit zu Demenz führenden Hirnprozessen werden oft fehlernährt, was zu vermeidbarer Morbidität führt. In späteren Stadien verlieren sie die Fähigkeit, zu... 
Pediatrics | Künstliche Ernährung | Vorenthalten der Behandlung | General Practice / Family Medicine | Terminal care | Sterbebegleitung | Artificial feeding | Withholding treatment | Medicine & Public Health | Degenerative Gehirnprozesse | Elterliche Zustimmung | Parental consent | Degenerative brain disorders
Journal Article
Nature Genetics, ISSN 1061-4036, 07/2009, Volume 41, Issue 7, pp. 773 - 775
Journal Article
Journal Article