المؤلفون: Sergey A. Klyushnikov, Tatiana Yu. Proshlyakova, Galina V. Baydakova, Evgenii P. Nuzhnyi, Natalya S. Nikolaeva, Zoya A. Goncharova, Neonila A. Fomina-Chertousova, Elena V. Degtereva, Victoria V. Chernikova, Kristina V. Gorshkova, Natalya S. Artemova, Larisa P. Shperling, Lyudmila N. Antipova, Olga Yu. Tsyplugina, Irina L. Ivanova, Lyubov V. Chepkasova, Sergey N. Illarioshkin

المصدر: Анналы клинической и экспериментальной неврологии, Vol 12, Iss 4, Pp 37-46 (2018)

مصطلحات موضوعية: lysosomal storage diseases, niemann–pick type c disease, pathogenic therapy, early-onset ataxias, biochemical screening, oxysterols, molecular genetic analysis, Neurosciences. Biological psychiatry. Neuropsychiatry, RC321-571

وصف الملف: electronic resource

Relation: https://annaly-nevrologii.com/journal/pathID/article/viewFile/547/437; https://doaj.org/toc/2075-5473; https://doaj.org/toc/2409-2533

URL الوصول: https://doaj.org/article/1caa541c30b246db8df3ffc1350d6845

المؤلفون: Vyacheslav Tabakov, S. A. Klyushnikov, Maria Karpova, Grigory Perelman, Alexandra Filatova, Ekaterina Zakharova, Igor Bychkov, Mikhail Skoblov, Alexandra Ilyushkina, Tatiana Yu. Proshlyakova, Daria Korotkova, Galina Baydakova

المصدر: Eur J Hum Genet

مصطلحات موضوعية: congenital, hereditary, and neonatal diseases and abnormalities, Penetrance, Biology, Brief Communication, Polymorphism, Single Nucleotide, Frameshift mutation, 03 medical and health sciences, Exon, Niemann-Pick C1 Protein, Polymorphism (computer science), hemic and lymphatic diseases, Twins, Dizygotic, Genetics, medicine, Humans, Point Mutation, Frameshift Mutation, Cells, Cultured, Genetics (clinical), 0303 health sciences, Niemann–Pick disease, type C, 030305 genetics & heredity, Wild type, nutritional and metabolic diseases, Niemann-Pick Disease, Type C, Fibroblasts, Middle Aged, medicine.disease, Molecular biology, RNA Splice Sites, NPC1, Minigene

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::10e93d5d7856ea13f4bfc3211a20f6e4
https://doi.org/10.1038/s41431-021-00898-7

المؤلفون: Denis V. Rebrikov, Galina Baydakova, Dmitry N. Degtyarev, Marina S. Gautier, Tatiana Yu. Proshlyakova, E. A. Kamenets, Ekaterina Yur'evna Zakharova, Anna V. Degtyareva

المصدر: BMC Medical Genetics
BMC Medical Genetics, Vol 20, Iss 1, Pp 1-8 (2019)

مصطلحات موضوعية: 0301 basic medicine, Male, Vesicular Transport Proteins, 030105 genetics & heredity, Gastroenterology, Niemann-pick disease type C, Alagille syndrome, Prospective Studies, ABCB11, Child, Genetics (clinical), ATP Binding Cassette Transporter, Subfamily B, Member 11, Cholestasis, Membrane Glycoproteins, Screening, NPC1, NPC2, JAG1, ABCB11, LARS, Intracellular Signaling Peptides and Proteins, Neurodegenerative Diseases, Niemann-Pick Disease, Type C, Oxysterols, Alagille Syndrome, Hexosaminidases, Liver, Child, Preschool, Biomarker (medicine), Female, Research Article, lcsh:Internal medicine, medicine.medical_specialty, lcsh:QH426-470, Oxysterol, Cholestasis, Intrahepatic, Sensitivity and Specificity, Amino Acyl-tRNA Synthetases, 03 medical and health sciences, Biliary atresia, Biliary Atresia, Niemann-Pick C1 Protein, Internal medicine, Genetics, medicine, Humans, Genetic Predisposition to Disease, lcsh:RC31-1245, Genetic Association Studies, Glycoproteins, Chitotriosidase, Niemann–Pick disease, type C, business.industry, Infant, Newborn, Infant, Biomarker, medicine.disease, lcsh:Genetics, 030104 developmental biology, Mutation, NPC1, business, Carrier Proteins, Biomarkers, Jagged-1 Protein

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f817bea50fe2188394b55623e2a8b52e
https://pubmed.ncbi.nlm.nih.gov/31296176