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: Peter Kuzman, Jennifer A. Barrie, Fredrik I. Gruenenfelder, James Y. Garbern, M. C. McCulloch, Klaus-Armin Nave, Gemma Thomson, Ruth M. Stassart, Mark McLaughlin, Jacques Penderis, Julia M. Edgar, Ian R. Griffiths

المصدر: Brain

مصطلحات موضوعية: Male, 0301 basic medicine, leukodystrophy, Pathology, medicine.medical_specialty, Pelizaeus-Merzbacher Disease, Mice, Transgenic, Biology, 03 medical and health sciences, Myelin, 0302 clinical medicine, Neural Stem Cells, medicine, Animals, Humans, Axon, Myelin Proteolipid Protein, Myelin Sheath, CNS hypomyelination, Leukodystrophy, Brain, Pelizaeus–Merzbacher disease, Original Articles, central nervous system, medicine.disease, axon degeneration, Neural stem cell, 3. Good health, Transplantation, Disease Models, Animal, 030104 developmental biology, medicine.anatomical_structure, nervous system, Mutation, Neurology (clinical), Stem cell, oligodendrocyte precursor, dysmyelination, 030217 neurology & neurosurgery

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a20e23044efcafc17d4c8de1334bdaf5Test

المؤلفون: Michael E. Shy, Agnes Jaâni, Karen Krajewski, Marina Gr, Richard A. Lewis, Jun Li, Rosemary R. Shy, Janne Balsamo, Jack Lilien, James Y. Garbern, John Kamholz

المساهمون: The Pennsylvania State University CiteSeerX Archives

المصدر: http://brain.oxfordjournals.org/content/early/2004/01/07/brain.awh048.full.pdfTest.

مصطلحات موضوعية: MPZ, CMT1B, phenotype, myelin, PNS

وصف الملف: application/pdf

العلاقة: http://citeseerx.ist.psu.edu/viewdoc/summary?doi=10.1.1.331.9155Test; http://brain.oxfordjournals.org/content/early/2004/01/07/brain.awh048.full.pdfTest

الإتاحة: http://brain.oxfordjournals.org/content/early/2004/01/07/brain.awh048.full.pdfTest

المؤلفون: James Y. Garbern, José Francisco da Silva Franco, Gen Nishimura, Melanie A. Knight, Débora Romeo Bertola, Asako Takanohashi, Raphael Schiffmann, Chong Ae Kim, Maria Rita Passos-Bueno, Rachel Sayuri Honjo, Kinya Ishikawa, Pelin Ozlem Simsek-Kiper, Margaret Timmons, Yuko Segawa, Hirofumi Ohashi, Kenneth H. Fischbeck, Cas Simons, Takanori Yokota, Long Guo, Alan Boyde, Carlos Ferreira, Noriko Miyake, Shiro Ikegawa, Zheng Wang, J. Spranger, Guilherme L. Yamamoto, Adeline Vanderver, Asuka Saito, Yoichiro Nishida, Naomichi Matsumoto, Andrew B. Singleton, Camila Manso Musso, Ryan J. Taft, Bryan R. Lajoie, Amy Pizzino, Pamela Gehron Robey, Li Yan, Satoru Ishibashi

المصدر: American journal of human genetics. 104(5)

مصطلحات موضوعية: 0301 basic medicine, Adult, Male, Pathology, medicine.medical_specialty, Lineage (genetic), Adolescent, Biology, Compound heterozygosity, medicine.disease_cause, Osteochondrodysplasias, Leukoencephalopathy, Colony stimulating factor 1 receptor, 03 medical and health sciences, Mice, Young Adult, 0302 clinical medicine, Leukoencephalopathies, Report, Genetics, medicine, Animals, Humans, Genetics (clinical), Alleles, Mice, Knockout, Mutation, Brain, medicine.disease, Metaphyseal dysplasia, 030104 developmental biology, Phenotype, Dysplasia, Receptors, Granulocyte-Macrophage Colony-Stimulating Factor, Child, Preschool, Hereditary diffuse leukoencephalopathy with spheroids, Female, 030217 neurology & neurosurgery, Osteosclerosis

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::450e49e47570759d5d31a943887be4e7Test
https://pubmed.ncbi.nlm.nih.gov/30982609Test

المؤلفون: Marion E. Hodes, E. P. Bosch, Wendy H. Raskind, Anders A. F. Sima, Stephen R. Dlouhy, Jean-Michel Vallat, Michael E. Shy, Franca Cambi, John Kamholz, Richard A. Lewis, George H. Kraft, Thomas D. Bird, James Y. Garbern, Wendy B. Macklin

المصدر: Annals of the New York Academy of Sciences. 883(1)

مصطلحات موضوعية: Male, Models, Molecular, medicine.medical_specialty, Proteolipid protein 1, Pelizaeus-Merzbacher Disease, Protein Conformation, Nonsense mutation, Molecular Sequence Data, Biology, Gene mutation, medicine.disease_cause, Nerve Fibers, Myelinated, General Biochemistry, Genetics and Molecular Biology, Gene product, Mice, History and Philosophy of Science, Internal medicine, medicine, Missense mutation, Animals, Humans, Family, Amino Acid Sequence, Peripheral Nerves, Myelin Proteolipid Protein, Genetics, Mutation, General Neuroscience, medicine.disease, Peripheral neuropathy, medicine.anatomical_structure, Endocrinology, Peripheral nervous system, lipids (amino acids, peptides, and proteins), Female

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::45885ee39c978a794d155ceb12ef354fTest
https://pubmed.ncbi.nlm.nih.gov/29086946Test

المؤلفون: Malek I. Makki, Tori Lafleur, Jeffrey A. Stanley, John Kamholz, Jeremy J. Laukka, James Y. Garbern

المصدر: Journal of Neuroscience Research. 92:1723-1732

مصطلحات موضوعية: Pathology, medicine.medical_specialty, Proteolipid protein 1, business.industry, Pelizaeus–Merzbacher disease, Splenium, Gene mutation, medicine.disease, Corpus callosum, White matter, Cellular and Molecular Neuroscience, medicine.anatomical_structure, Fractional anisotropy, medicine, business, Diffusion MRI

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::59a67b05142a038eb11905c087cc7b62Test
https://doi.org/10.1002/jnr.23458Test

المؤلفون: James Y. Garbern, John Kamholz, Jeffrey A. Stanley, Jeremy J. Laukka, Alexander Gow, Angela Trepanier, Tori Lafleur, Grace M. Hobson

المصدر: Journal of the Neurological Sciences. 335:75-81

مصطلحات موضوعية: Adult, Male, Pathology, medicine.medical_specialty, Adolescent, Pelizaeus-Merzbacher Disease, Disease, Nerve Fibers, Myelinated, Article, Corpus Callosum, Young Adult, Image Processing, Computer-Assisted, medicine, Humans, Disabled Persons, Clinical severity, Child, Myelin Proteolipid Protein, White matter atrophy, medicine.diagnostic_test, business.industry, Leukodystrophy, Brain, Infant, Pelizaeus–Merzbacher disease, Magnetic resonance imaging, Middle Aged, medicine.disease, Quantitative measure, Neurology, Child, Preschool, Mutation, Female, Neurology (clinical), Nervous System Diseases, business

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::76e6d3074feb71047f74f6826ecb6286Test
https://doi.org/10.1016/j.jns.2013.08.030Test

المؤلفون: Rosa Rademakers, Russell H. Swerdlow, Jay A. van Gerpen, Alex Tselis, Alexandra M. Nicholson, Daniel F. Broderick, James Y. Garbern, Sigrun Roeber, Christian Wider, Keith A. Josephs, Oluf Andersen, Bradley Miller, Anne Börjesson-Hanson, Shinsuke Fujioka, Christina Sundal, Elizabeth A. Shuster, Jan O. Aasly, Zbigniew K. Wszolek, Bernardino Ghetti, Dennis W. Dickson, Ryan J. Uitti, Michael G. Heckman, Salvatore Spina, Matt Baker

المصدر: Neurology

مصطلحات موضوعية: Male, Pathology, medicine.medical_specialty, Neurology, Receptor, Macrophage Colony-Stimulating Factor, Autopsy, Biology, Text mining, Atrophy, Leukoencephalopathies, medicine, Humans, business.industry, Brain, Articles, Middle Aged, medicine.disease, Magnetic Resonance Imaging, Sagittal plane, Hyperintensity, CSF1R gene, medicine.anatomical_structure, Mutation, Hereditary diffuse leukoencephalopathy with spheroids, Female, Human medicine, Neurology (clinical), business

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e5029594750c3888b50818e2ee69e1d3Test
https://doi.org/10.1212/wnl.0b013e318263575aTest

المؤلفون: Grace M. Hobson, James Y. Garbern

المصدر: Seminars in Neurology. 32:062-067

مصطلحات موضوعية: Male, medicine.medical_specialty, Magnetic Resonance Spectroscopy, Ataxia, Pelizaeus Merzbacher like disease, Pelizaeus-Merzbacher Disease, GJC2, Physical medicine and rehabilitation, medicine, Spastic, Humans, Spasticity, Muscle contracture, Paraplegia, business.industry, Pelizaeus–Merzbacher disease, medicine.disease, Magnetic Resonance Imaging, Hypotonia, nervous system diseases, Neurology, Mutation, Female, Neurology (clinical), medicine.symptom, business, Demyelinating Diseases

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c9db2491d958d25d5b8dff2852ef9b4dTest
https://doi.org/10.1055/s-0032-1306388Test

المؤلفون: Ling Yi, Stephen G. Kaler, Marina L. Kennerson, Anthony Donsante, James Y. Garbern, Julian F.B. Mercer

المصدر: Human Molecular Genetics. 21:1794-1807

مصطلحات موضوعية: Valosin-containing protein, Endocytic cycle, ATP7A, Occipital horn syndrome, Cell Cycle Proteins, Protein Structure, Secondary, Valosin Containing Protein, Genetics, medicine, Humans, Motor Neuron Disease, Amyotrophic lateral sclerosis, Cation Transport Proteins, Molecular Biology, Alleles, Genetics (clinical), Adenosine Triphosphatases, Motor Neurons, biology, Cell Membrane, Articles, General Medicine, Fibroblasts, Motor neuron, medicine.disease, Endocytosis, Cell biology, Protein Transport, HEK293 Cells, medicine.anatomical_structure, Biochemistry, Copper-Transporting ATPases, Mutation, biology.protein, Menkes disease, Intracellular, Protein Binding, trans-Golgi Network

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::79530adb6d1257177838e6a043794ae7Test
https://doi.org/10.1093/hmg/ddr612Test