-
1
المؤلفون: JD Sharp, Sandra Codlin, Grégoire Michaux, Daniel F. Cutler, Sara E. Mole, RB Wheeler
المصدر: Experimental Cell Research. 298:399-406
مصطلحات موضوعية: Batten disease, Recombinant Fusion Proteins, Green Fluorescent Proteins, Golgi Apparatus, Endosomes, Biology, Endoplasmic Reticulum, Cell Line, Neuronal Ceroid-Lipofuscinoses, medicine, Lysosomal storage disease, Humans, Tripeptidyl-Peptidase 1, Endoplasmic reticulum, Neurodegeneration, Membrane Proteins, PPT1, Cell Biology, medicine.disease, Molecular biology, Protein Structure, Tertiary, Cell biology, Luminescent Proteins, Protein Transport, CLN3, CLN8, Mutation, Nuclear Pore, Neuronal ceroid lipofuscinosis
-
2
المؤلفون: Liina Lonka, RM Gardiner, Ruth E Williams, JD Sharp, Wayne A. Mitchell, Anna-Elina Lehesjoki, RB Wheeler, Sara E. Mole, U. S. Ranta, S. L. Bate
المصدر: European Journal of Paediatric Neurology. 5:21-27
مصطلحات موضوعية: Turkish population, Turkey, Genetic Linkage, DNA Mutational Analysis, Biology, 03 medical and health sciences, 0302 clinical medicine, Neuronal Ceroid-Lipofuscinoses, Genetic linkage, medicine, Humans, Missense mutation, Disease-causing Mutation, Child, Alleles, DNA Primers, 030304 developmental biology, Family Health, Genetics, 0303 health sciences, Tripeptidyl-Peptidase 1, Homozygote, Haplotype, Chromosome Mapping, Infant, General Medicine, medicine.disease, Disease gene identification, Haplotypes, CLN8, Child, Preschool, Pediatrics, Perinatology and Child Health, Neuronal ceroid lipofuscinosis, Neurology (clinical), 030217 neurology & neurosurgery, Microsatellite Repeats
-
3
المؤلفون: Bryan Winchester, W. Peter Logan, RB Wheeler, Elisabeth Young, Brian D. Lake
المصدر: Prenatal Diagnosis. 20:337-339
مصطلحات موضوعية: Pregnancy, Pathology, medicine.medical_specialty, Fetus, medicine.diagnostic_test, biology, Obstetrics and Gynecology, Chorionic villus sampling, Prenatal diagnosis, engineering.material, medicine.disease, Tripeptidyl peptidase I, Enzyme assay, Batten, medicine.anatomical_structure, embryonic structures, medicine, engineering, biology.protein, Chorionic villi, reproductive and urinary physiology, Genetics (clinical)
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::120e116c3227730057cf61ae7705e422
https://doi.org/10.1002/(sici)1097-0223(200004)20:4<337::aid-pd811>3.0.co;2-# -
4
المؤلفون: Minna Savukoski, Marjo Kestila, Rachel Williams, Hans Eiberg, JD Sharp, Leena Peltonen, Irma Järvelä, RM Gardiner, RB Wheeler
المصدر: European Journal of Human Genetics. 3:326-328
مصطلحات موضوعية: Pathology, medicine.medical_specialty, Tripeptidyl-Peptidase 1, Jansky–Bielschowsky disease, Chromosome Mapping, Numerical Analysis, Computer-Assisted, Biology, medicine.disease, Neuronal Ceroid-Lipofuscinoses, Genetics, medicine, Chromosomes, Human, Pair 5, Humans, Late infantile neuronal ceroid lipofuscinosis, Chromosomes, Human, Pair 9, Genetics (clinical)
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e0552cdb1f9afced9bb36f74a3735ff2
https://doi.org/10.1159/000472317 -
5
المؤلفون: Ruth E Williams, JD Sharp, K. Parker, RB Wheeler, Sara E. Mole, R. Mark Gardiner
المصدر: Human mutation. 22(1)
مصطلحات موضوعية: Genetic Markers, Male, Reading Frames, Batten disease, Population, DNA Mutational Analysis, Biology, Compound heterozygosity, medicine.disease_cause, Neuronal Ceroid-Lipofuscinoses, Genetics, medicine, Missense mutation, Humans, Genetic Testing, Age of Onset, education, Child, Frameshift Mutation, Gene, Genetics (clinical), Mutation, education.field_of_study, Haplotype, Genetic Variation, Infant, Membrane Proteins, medicine.disease, Alternative Splicing, CLN8, Child, Preschool, Female
-
6
المؤلفون: RB Wheeler, Sara E. Mole, John M. Joslin, JD Sharp, Ruth E Williams, Roger A. Schultz
المصدر: American journal of human genetics. 70(2)
مصطلحات موضوعية: Mutant, DNA Mutational Analysis, Molecular Sequence Data, Biology, medicine.disease_cause, 03 medical and health sciences, Mice, 0302 clinical medicine, Protein structure, Neuronal Ceroid-Lipofuscinoses, Report, medicine, Genetics, Animals, Humans, Genetics(clinical), Amino Acid Sequence, RNA, Messenger, Gene, Peptide sequence, Genetics (clinical), 030304 developmental biology, 0303 health sciences, Mutation, Base Sequence, Membrane Proteins, Transmembrane protein, Mice, Mutant Strains, Protein Structure, Tertiary, Transmembrane domain, Phenotype, CLN8, RNA Splice Sites, Sequence Alignment, 030217 neurology & neurosurgery
-
7
المؤلفون: JD Sharp, John M. Joslin, Sara E. Mole, RB Wheeler, R. Mark Gardiner, Roger A. Schultz, Ruth E Williams
المصدر: European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society. 5
مصطلحات موضوعية: Cloning, Genetics, Candidate gene, Chromosomes, Human, Pair 15, In silico, Chromosome, Chromosome Mapping, Infant, General Medicine, Biology, Neuronal Ceroid-Lipofuscinoses, Pediatrics, Perinatology and Child Health, Microsatellite, Humans, Human genome, Neurology (clinical), Cloning, Molecular, Gene, Sequence (medicine), Microsatellite Repeats
-
8
المؤلفون: Ruth E Williams, Brian D. Lake, JD Sharp, RM Gardiner, M Fox, RB Wheeler
المصدر: Molecular genetics and metabolism. 66(4)
مصطلحات موضوعية: Male, Endocrinology, Diabetes and Metabolism, Biology, Biochemistry, Endocrinology, Neuronal Ceroid-Lipofuscinoses, Genetics, Humans, Molecular Biology, Gene, Alleles, Gene Library, Sequence Tagged Sites, Chromosomes, Human, Pair 15, Transcript mapping, Chromosome, Chromosome Mapping, Disease gene identification, Physical Chromosome Mapping, Pedigree, Phenotype, Haplotypes, Genetic marker, Physical mapping, Female, Late infantile neuronal ceroid lipofuscinosis, Microsatellite Repeats
-
9
المؤلفون: RB Wheeler, RM Gardiner, Brian D. Lake, JD Sharp, Wayne A. Mitchell, Ruth E Williams, S. L. Bate
المصدر: Molecular genetics and metabolism. 66(4)
مصطلحات موضوعية: Genetics, Male, Genotype, Endocrinology, Diabetes and Metabolism, Curvilinear bodies, DNA Mutational Analysis, Locus (genetics), Biology, Disease gene identification, Biochemistry, Phenotype, Pedigree, Endocrinology, Neuronal Ceroid-Lipofuscinoses, Humans, Female, Late infantile neuronal ceroid lipofuscinosis, Molecular Biology, Gene, Microsatellite Repeats
-
10
المؤلفون: RM Gardiner, JD Sharp, Leena Peltonen, RB Wheeler, Brian D. Lake, Irma Järvelä, Ruth E Williams, Minna Savukoski
المصدر: Human molecular genetics. 6(4)
مصطلحات موضوعية: Genetic Markers, Male, Genotype, Genetic Linkage, Infantile neuronal ceroid lipofuscinosis, Consanguinity, Biology, Genetic linkage, Neuronal Ceroid-Lipofuscinoses, Genetics, medicine, Humans, Palmitoyl protein thioesterase, Genetic Testing, Molecular Biology, Genetics (clinical), Chromosomes, Human, Pair 15, Tripeptidyl-Peptidase 1, Chromosomes, Human, Pair 11, Homozygote, Chromosome Mapping, General Medicine, Tripeptidyl peptidase I, Disease gene identification, medicine.disease, Pedigree, Phenotype, CLN3, CLN8, Child, Preschool, biology.protein, Female, Lod Score
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::76f47968f5cc56046cd5556a4d393f2a
https://pubmed.ncbi.nlm.nih.gov/9097964