المؤلفون: Vahid Bahrambeigi, Xiaofei Song, Karen Sperle, Christine R. Beck, Hadia Hijazi, Christopher M. Grochowski, Shen Gu, Pavel Seeman, Karen J. Woodward, Claudia M. B. Carvalho, Grace M. Hobson, James R. Lupski

المصدر: Genome Medicine, Vol 11, Iss 1, Pp 1-17 (2019)

مصطلحات موضوعية: PMD, Genomic rearrangements, Genome instability, Duplication, LCR, RBM, Medicine, Genetics, QH426-470

وصف الملف: electronic resource

العلاقة: https://doaj.org/toc/1756-994XTest

الوصول الحر: https://doaj.org/article/e62010d3a4f7460980eda6cd0e59006bTest

المؤلفون: Stephanie Tantzer, Karen Sperle, Kaitlin Kenaley, Jennifer Taube, Grace M. Hobson

المصدر: Molecular Therapy: Nucleic Acids, Vol 12, Iss , Pp 420-432 (2018)

مصطلحات موضوعية: Therapeutics. Pharmacology, RM1-950

وصف الملف: electronic resource

العلاقة: http://www.sciencedirect.com/science/article/pii/S2162253118301185Test; https://doaj.org/toc/2162-2531Test

الوصول الحر: https://doaj.org/article/ae4b04d5955d4494bee09829f7158e04Test

المؤلفون: Christine R Beck, Claudia M B Carvalho, Linda Banser, Tomasz Gambin, Danielle Stubbolo, Bo Yuan, Karen Sperle, Suzanne M McCahan, Marco Henneke, Pavel Seeman, James Y Garbern, Grace M Hobson, James R Lupski

المصدر: PLoS Genetics, Vol 11, Iss 3, p e1005050 (2015)

مصطلحات موضوعية: Genetics, QH426-470

وصف الملف: electronic resource

العلاقة: http://europepmc.org/articles/PMC4352052?pdf=renderTest; https://doaj.org/toc/1553-7390Test; https://doaj.org/toc/1553-7404Test

الوصول الحر: https://doaj.org/article/69485bbb44444f2b9c70070509172664Test

المؤلفون: Karen Sperle, Darrin J. Pochan, Sigrid A. Langhans

المصدر: Methods in Molecular Biology ISBN: 9781071629130

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::245a1bc885463a3778e22f8e39c620b6Test
https://doi.org/10.1007/978-1-0716-2914-7_22Test

المؤلفون: Karen, Sperle, Darrin J, Pochan, Sigrid A, Langhans

المصدر: Methods in molecular biology (Clifton, N.J.). 2614

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=pmid________::5d4aa9f34a863acb3bc4d0b5a59332d3Test
https://pubmed.ncbi.nlm.nih.gov/36587136Test

المؤلفون: Karen J. Woodward, Hadia Hijazi, Vahid Bahrambeigi, Xiaofei Song, Shen Gu, Grace M. Hobson, Christine R. Beck, James R. Lupski, Claudia M.B. Carvalho, Karen Sperle, Christopher M. Grochowski, Pavel Seeman

المصدر: Genome Medicine
Genome Medicine, Vol 11, Iss 1, Pp 1-17 (2019)

مصطلحات موضوعية: 0301 basic medicine, Genome instability, lcsh:QH426-470, DNA Copy Number Variations, Duplication, Sequence analysis, lcsh:Medicine, Locus (genetics), Computational biology, Biology, Polymorphism, Single Nucleotide, Microhomeology, Genomic Instability, RBM, Chromosome Breakpoints, 03 medical and health sciences, 0302 clinical medicine, Gene Duplication, HR, Gene duplication, Genetics, Humans, Genetic Predisposition to Disease, PMD, Myelin Proteolipid Protein, Molecular Biology, Genetic Association Studies, Genetics (clinical), Gene Rearrangement, Comparative Genomic Hybridization, Genome, Human, Research, lcsh:R, BIR, Breakpoint, Genomic rearrangements, Genomics, MMBIR, Human genetics, lcsh:Genetics, 030104 developmental biology, Mutation, LCR, Molecular Medicine, Human genome, 030217 neurology & neurosurgery, Reference genome

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e21dd5b78ae77ac6e51db935d9239b46Test
https://doi.org/10.1186/s13073-019-0676-0Test

المؤلفون: Marjo S. van der Knaap, Grace M. Hobson, Geneviève Bernard, Lorena Travaglini, Maja Tarailo-Graovac, Coriene E. Catsman-Berrevoets, Jennifer R. Taube, Simona Orcesi, Mark A. Tarnopolsky, Davide Tonduti, Enrico Bertini, Jolanda H. Schieving, Truus E.M. Abbink, Karen Sperle, Clara D.M. van Karnebeek, Nicole I. Wolf, Enza Maria Valente, Sietske H. Kevelam, Quinten Waisfisz, Marjan E. Steenweg, Carola G.M. van Berkel, Richard L. Friederich, John R. Østergaard, Mahmoud F. Elsaid, Erik A. Sistermans, Rosalina M. L. van Spaendonk

المساهمون: Clinical Genetics, Neurology, Pediatric surgery, Human genetics, NCA - Brain mechanisms in health and disease, Other departments, Functional Genomics, Neuroscience Campus Amsterdam - Brain Mechanisms in Health & Disease

المصدر: Kevelam, S H, Taube, J R, van Spaendonk, R M L, Bertini, E, Sperle, K, Tarnopolsky, M, Tonduti, D, Valente, E M, Travaglini, L, Sistermans, E A, Bernard, G, Catsman-Berrevoets, C E, van Karnebeek, C D M, Ostergaard, J R, Friederich, R L, Elsaid, M F, Schieving, J H, Tarailo-Graovac, M, Orcesi, S, Steenweg, M E, van Berkel, C G M, Waisfisz, Q, Abbink, G E M, Knaap, M, Hobson, G M & Wolf, N I 2015, ' Altered PLP1 splicing causes hypomyelination of early myelinating structures ', Annals of Clinical and Translational Neurology, vol. 2, no. 6, pp. 648-661 . https://doi.org/10.1002/acn3.203Test
Annals of Clinical and Translational Neurology
Annals of Clinical and Translational Neurology, 2(6), 648-661. John Wiley & Sons Inc.
Annals of Clinical and Translational Neurology, 2(6), 648-661. John Wiley and Sons Ltd
Annals of clinical and translational neurology, 2(6), 648-661. John Wiley and Sons Ltd
Kevelam, S H, Taube, J R, van Spaendonk, R M L, Bertini, E, Sperle, K, Tarnopolsky, M, Tonduti, D, Valente, E M, Travaglini, L, Sistermans, E A, Bernard, G, Catsman-Berrevoets, C E, van Karnebeek, C D M, Østergaard, J R, Friederich, R L, Fawzi Elsaid, M, Schieving, J H, Tarailo-Graovac, M, Orcesi, S, Steenweg, M E, van Berkel, C G M, Waisfisz, Q, Abbink, T E M, van der Knaap, M S, Hobson, G M & Wolf, N I 2015, ' Altered PLP1 splicing causes hypomyelination of early myelinating structures ', Annals of clinical and translational neurology, vol. 2, no. 6, pp. 648-61 . https://doi.org/10.1002/acn3.203Test

مصطلحات موضوعية: Genetics, 0303 health sciences, Splice site mutation, General Neuroscience, Alternative splicing, Exonic splicing enhancer, Intron, Biology, 03 medical and health sciences, Exon, 0302 clinical medicine, RNA splicing, Neurology (clinical), Exonic splicing silencer, 030217 neurology & neurosurgery, Research Articles, 030304 developmental biology, Minigene

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::51257249ae6a50e8c2a4eb225d2222b7Test
https://research.vu.nl/en/publications/7454cef3-29b3-4c0d-b5fe-0ff50df509ddTest

المؤلفون: Robert P. Skoff, Carlisle P. Landel, Karen Sperle, Linda Banser, Kristi Clark, Denise Bessert, Lauren Sakowski, Grace M. Hobson

المصدر: Journal of Neuroscience. 33:11788-11799

مصطلحات موضوعية: Proteolipid protein 1, Genotype, Pelizaeus-Merzbacher Disease, Lameness, Animal, Mice, Transgenic, Biology, medicine.disease_cause, Mice, Myelin, Gene duplication, medicine, Animals, Myelin Proteolipid Protein, Gait, Gene, Myelin Sheath, X chromosome, Genetics, Mutation, General Neuroscience, Pelizaeus–Merzbacher disease, Articles, medicine.disease, Myelin proteolipid protein, Disease Models, Animal, medicine.anatomical_structure, Disease Progression, Demyelinating Diseases

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::81988650088b17d6599e281c93265358Test
https://doi.org/10.1523/jneurosci.1336-13.2013Test

المؤلفون: Neviana Dimova, Erming Wang, Mailis C. McCulloch, Grace M. Hobson, Karen Sperle, Leslie F. Lock, Franca Cambi, Julia M. Edgar, Zhong Huang

المصدر: Experimental Neurology. 214:322-330

مصطلحات موضوعية: Male, Proteolipid protein 1, Pelizaeus-Merzbacher Disease, Motor Activity, Biology, medicine.disease_cause, Mice, Myelin, Developmental Neuroscience, medicine, Animals, Gene Knock-In Techniques, Myelin Proteolipid Protein, Enhancer, Myelin Sheath, Genetics, Mutation, Behavior, Animal, Alternative splicing, Intron, Brain, Pelizaeus–Merzbacher disease, Optic Nerve, medicine.disease, Introns, Mice, Mutant Strains, Cell biology, Mice, Inbred C57BL, Alternative Splicing, Disease Models, Animal, Microscopy, Electron, Enhancer Elements, Genetic, medicine.anatomical_structure, Neurology, RNA splicing, Gene Deletion, Myelin Proteins

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::23a8041b04bcc62c973ea2db416405f5Test
https://doi.org/10.1016/j.expneurol.2008.09.001Test

المؤلفون: Suzanne M McCahan, Pavel Seeman, Linda Banser, Marco Henneke, Karen Sperle, James Y. Garbern, Tomasz Gambin, Grace M. Hobson, Danielle Stubbolo, Christine R. Beck, Bo Yuan, James R. Lupski, Claudia M.B. Carvalho

المصدر: PLoS Genetics, Vol 11, Iss 3, p e1005050 (2015)
PLoS Genetics

مصطلحات موضوعية: Cancer Research, congenital, hereditary, and neonatal diseases and abnormalities, lcsh:QH426-470, Pelizaeus-Merzbacher Disease, Inverted repeat, Polymerase chain reaction, Haplotypes, Southern blot, Human genomics, Cloning, Genomic libraries, Genome complexity, Genotyping, Gene Dosage, Locus (genetics), Biology, Structural variation, Chromosome Breakpoints, Gene Duplication, Gene duplication, Genetics, Humans, Genomic library, Myelin Proteolipid Protein, Molecular Biology, Genetics (clinical), Ecology, Evolution, Behavior and Systematics, Chromosomal inversion, Breakpoint, lcsh:Genetics, Rolling circle replication, Chromosome Inversion, Research Article

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::cf99eadb26712c966710436004f69fd1Test
http://resolver.sub.uni-goettingen.de/purl?gs-1/13556Test