نتائج البحث - "Sara S. Cathey"

المصدر: Brain, 143(12), 3564-3573
Brain, 143(12), 3564-3573. Oxford University Press
Mochel, F, Rastetter, A, Ceulemans, B, Platzer, K, Yang, S, Shinde, D N, Helbig, K L, Lopergolo, D, Mari, F, Renieri, A, Benetti, E, Canitano, R, Waisfisz, Q, Plomp, A S, Huisman, S A, Wilson, G N, Cathey, S S, Louie, R J, Del Gaudio, D, Waggoner, D, Kacker, S, Nugent, K M, Roeder, E R, Bruel, A L, Thevenon, J, Ehmke, N, Horn, D, Holtgrewe, M, Kaiser, F J, Kamphausen, S B, Abou Jamra, R, Weckhuysen, S, Dalle, C & Depienne, C 2020, ' Variants in the SK2 channel gene (KCNN2) lead to dominant neurodevelopmental movement disorders ', Brain, vol. 143, no. 12, pp. 3564-3573 . https://doi.org/10.1093/brain/awaa346Test

مصطلحات موضوعية: Male, 0301 basic medicine, Patch-Clamp Techniques, Movement disorders, Small-Conductance Calcium-Activated Potassium Channels, Medizin, Haploinsufficiency, 0302 clinical medicine, Missense mutation, Exome, Child, Frameshift Mutation, Exome sequencing, Genetics, Movement Disorders, Learning Disabilities, Middle Aged, Magnetic Resonance Imaging, White Matter, developmental delay, Child, Preschool, medicine.symptom, SK2 channel, KCNN2, ataxia, tremor, Adolescent, Adult, Cerebellar Ataxia, Electrophysiological Phenomena, Genetic Variation, Humans, Intellectual Disability, Mutation, Missense, Neurodevelopmental Disorders, Young Adult, Ataxia, Biology, Frameshift mutation, 03 medical and health sciences, medicine, Preschool, Cerebellar ataxia, 030104 developmental biology, Mutation, Neurology (clinical), Missense, 030217 neurology & neurosurgery

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b551b10bc02401ad4456584c23c15da4Test
https://doi.org/10.1093/brain/awaa346Test

6

Redefining the Etiologic Landscape of Cerebellar Malformations

المؤلفون: Kaylee Park, Georg Seelig, Robert J. Hopkin, Steven Lisgo, Joseph G. Gleeson, Yuri A. Zarate, Charles E. Schwartz, Stephen R. Braddock, Katherine Wusik, Zachary Thomson, Deborah A. Nickerson, Charles M. Roco, Susan Sell, Jordan Zeiger, Chi V. Cheng, Matthew Hirano, Julie R. Jones, Roger L. Ladda, Gisele E. Ishak, Amy Goldstein, David B. Everman, Dan Doherty, Sarah Collins, William B. Dobyns, Lynne M. Overmann, Ian A. Glass, Alexander B. Rosenberg, Megan T. Cho, Kathleen A. Leppig, Kimberly A. Aldinger, Brian H.Y. Chung, Andrew E. Timms, Kathleen J. Millen, Fatima Abidi, Michael J. Bamshad, Cynthia J. Curry, Fowzan S. Alkuraya, A. James Barkovich, James T. Bennett, Parthiv Haldipur, Leslie G. Biesecker, Ian D. Krantz, Ghayda M. Mirzaa, Dianne Gerrelli, Barbara McGillivray, Sara S. Cathey

المصدر: The American Journal of Human Genetics. 105:606-615

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::282ca27ddfdcb3de1615e0de8cf3c41dTest
https://doi.org/10.1016/j.ajhg.2019.07.019Test

7

The lysosomal storage disorders mucolipidosis type II, type III alpha/beta, and type III gamma: Update on GNPTAB and GNPTG mutations

المساهمون: Pediatrics

المصدر: Human Mutation, 40(7), 842-864. Wiley-Liss Inc.

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::52dbe8cfc1887d5b8f29580ea5d03e6bTest
https://doi.org/10.1002/humu.23748Test

8

Histone H3.3 beyond cancer: Germline mutations in

المؤلفون: Laura, Bryant, Dong, Li, Samuel G, Cox, Dylan, Marchione, Evan F, Joiner, Khadija, Wilson, Kevin, Janssen, Pearl, Lee, Michael E, March, Divya, Nair, Elliott, Sherr, Brieana, Fregeau, Klaas J, Wierenga, Alexandrea, Wadley, Grazia M S, Mancini, Nina, Powell-Hamilton, Jiddeke, van de Kamp, Theresa, Grebe, John, Dean, Alison, Ross, Heather P, Crawford, Zoe, Powis, Megan T, Cho, Marcia C, Willing, Linda, Manwaring, Rachel, Schot, Caroline, Nava, Alexandra, Afenjar, Davor, Lessel, Matias, Wagner, Thomas, Klopstock, Juliane, Winkelmann, Claudia B, Catarino, Kyle, Retterer, Jane L, Schuette, Jeffrey W, Innis, Amy, Pizzino, Sabine, Lüttgen, Jonas, Denecke, Tim M, Strom, Kristin G, Monaghan, Zuo-Fei, Yuan, Holly, Dubbs, Renee, Bend, Jennifer A, Lee, Michael J, Lyons, Julia, Hoefele, Roman, Günthner, Heiko, Reutter, Boris, Keren, Kelly, Radtke, Omar, Sherbini, Cameron, Mrokse, Katherine L, Helbig, Sylvie, Odent, Benjamin, Cogne, Sandra, Mercier, Stephane, Bezieau, Thomas, Besnard, Sebastien, Kury, Richard, Redon, Karit, Reinson, Monica H, Wojcik, Katrin, Õunap, Pilvi, Ilves, A Micheil, Innes, Kristin D, Kernohan, Gregory, Costain, M Stephen, Meyn, David, Chitayat, Elaine, Zackai, Anna, Lehman, Hilary, Kitson, Martin G, Martin, Julian A, Martinez-Agosto, Stan F, Nelson, Christina G S, Palmer, Jeanette C, Papp, Neil H, Parker, Janet S, Sinsheimer, Eric, Vilain, Jijun, Wan, Amanda J, Yoon, Allison, Zheng, Elise, Brimble, Giovanni Battista, Ferrero, Francesca Clementina, Radio, Diana, Carli, Sabina, Barresi, Alfredo, Brusco, Marco, Tartaglia, Jennifer Muncy, Thomas, Luis, Umana, Marjan M, Weiss, Garrett, Gotway, K E, Stuurman, Michelle L, Thompson, Kirsty, McWalter, Constance T R M, Stumpel, Servi J C, Stevens, Alexander P A, Stegmann, Kristian, Tveten, Arve, Vøllo, Trine, Prescott, Christina, Fagerberg, Lone Walentin, Laulund, Martin J, Larsen, Melissa, Byler, Robert Roger, Lebel, Anna C, Hurst, Joy, Dean, Samantha A, Schrier Vergano, Jennifer, Norman, Saadet, Mercimek-Andrews, Juanita, Neira, Margot I, Van Allen, Nicola, Longo, Elizabeth, Sellars, Raymond J, Louie, Sara S, Cathey, Elly, Brokamp, Delphine, Heron, Molly, Snyder, Adeline, Vanderver, Celeste, Simon, Xavier, de la Cruz, Natália, Padilla, J Gage, Crump, Wendy, Chung, Benjamin, Garcia, Hakon H, Hakonarson, Elizabeth J, Bhoj

المصدر: Science Advances

مصطلحات موضوعية: endocrine system, SciAdv r-articles, Forkhead Transcription Factors, Neurodegenerative Diseases, Zebrafish Proteins, Histones, fluids and secretions, mental disorders, Genetics, Animals, Humans, Molecular Biology, reproductive and urinary physiology, Germ-Line Mutation, Zebrafish, Research Articles, Research Article

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=pmid________::9b935d757ea4c034c49b726ecd6f074dTest
https://pubmed.ncbi.nlm.nih.gov/33268356Test

9

Histone H3.3 beyond cancer: Germline mutations in Histone 3 Family 3A and 3B cause a previously unidentified neurodegenerative disorder in 46 patients

المؤلفون: Thomas Besnard, Kristian Tveten, Hilary F Kitson, Jennifer A. Lee, Brieana Fregeau, Rachel Schot, Khadija Wilson, Katrin Õunap, Juliane Winkelmann, Anna Lehman, Nicola Longo, Servi J. C. Stevens, Megan T. Cho, Christina G.S. Palmer, Causes Study, Giovanni Battista Ferrero, Joy Dean, Lone W. Laulund, Grazia M.S. Mancini, Matias Wagner, Martin G. Martin, Sabine Lüttgen, Elizabeth J. Bhoj, Amanda J. Yoon, Thomas Klopstock, Janet S. Sinsheimer, Eric Vilain, Sébastien Küry, Francesca Clementina Radio, Jiddeke M. van de Kamp, Cameron Mrokse, Hakon Hakonarson, Samuel G. Cox, Jeanette C. Papp, Margot I. Van Allen, Raymond J. Louie, Constance T. R. M. Stumpel, Evan F. Joiner, Juanita Neira, Arve Vøllo, Amy Pizzino, Kelly Radtke, Celeste Simon, Michelle L. Thompson, Allison Zheng, Omar Sherbini, Marcia C. Willing, Tim M. Strom, Benjamin Garcia, Sara S. Cathey, Theresa A. Grebe, Dong Li, Marjan M. Weiss, Marco Tartaglia, Laura M Bryant, Sandra Mercier, Katherine L. Helbig, Martin Jakob Larsen, Ddd Study, Alexandrea Wadley, Alexander P.A. Stegmann, Sabina Barresi, A. Micheil Innes, Elaine H. Zackai, Gregory Costain, Davor Lessel, Molly Snyder, Heather P. Crawford, Richard Redon, Pearl Lee, Melissa Byler, Holly Dubbs, J. Gage Crump, K. E. Stuurman, Boris Keren, Stéphane Bézieau, Stan F. Nelson, Kristin G. Monaghan, Michael J. Lyons, Jeffrey W. Innis, Anna C.E. Hurst, Elizabeth A. Sellars, Samantha A. Schrier Vergano, Saadet Mercimek-Andrews, Monica H. Wojcik, Alison Ross, Heiko Reutter, Zuo-Fei Yuan, Dylan M. Marchione, Renee Bend, Diana Carli, Zöe Powis, Neil H. Parker, Jennifer Muncy Thomas, Luis A. Umaña, Adeline Vanderver, Julia Hoefele, Linda Manwaring, Christina Fagerberg, Elly Brokamp, M. Stephen Meyn, Pilvi Ilves, Xavier de la Cruz, Nina Powell-Hamilton, Caroline Nava, Garrett Gotway, Karit Reinson, Kristin D. Kernohan, Jennifer Norman, Alexandra Afenjar, Benjamin Cogné, Delphine Héron, Roman Günthner, Alfredo Brusco, John Dean, Kevin A. Janssen, Robert Roger Lebel, Divya Nair, Jijun Wan, Julian A. Martinez-Agosto, Elliott H. Sherr, Kyle Retterer, Claudia B. Catarino, Michael E. March, Natalia Padilla, Elise Brimble, Sylvie Odent, Jane L. Schuette, David Chitayat, Klaas J. Wierenga, Kirsty McWalter, Trine Prescott, Jonas Denecke, Wendy K. Chung

المساهمون: Human genetics, Amsterdam Neuroscience - Complex Trait Genetics, Amsterdam Gastroenterology Endocrinology Metabolism, Klinische Genetica, MUMC+: DA KG Polikliniek (9), RS: GROW - R4 - Reproductive and Perinatal Medicine, MUMC+: DA KG Lab Centraal Lab (9), Clinical Genetics

المصدر: Science Advances, 6(49):eabc9207. American Association for the Advancement of Science
Dipòsit Digital de Documents de la UAB
Universitat Autònoma de Barcelona
DDD Study, Care4Rare Canada Consortium, CAUSES Study & Undiagnosed Diseases Network 2020, ' Histone H3.3 beyond cancer: Germline mutations in Histone 3 Family 3A and 3B cause a previously unidentified neurodegenerative disorder in 46 patients ', Science Advances, vol. 6, no. 49, eabc9207 . https://doi.org/10.1126/sciadv.abc9207Test
Science advances, 6(49):9207. American Association for the Advancement of Science
Science advances, 6(49):eabc9207. American Association for the Advancement of Science
Bryant, L, Li, D, Cox, S G, Marchione, D, Joiner, E F, Wilson, K, Fagerberg, C, Laulund, L W, Larsen, M J & DDD Study 2020, ' Histone H3.3 beyond cancer : Germline mutations in Histone 3 Family 3A and 3B cause a previously unidentified neurodegenerative disorder in 46 patients ', Science Advances, vol. 6, no. 49, eabc9207 . https://doi.org/10.1126/sciadv.abc9207Test
Science advances 6(49), eabc9207 (2020). doi:10.1126/sciadv.abc9207
Sci. Adv. 6:106267 (2020)

مصطلحات موضوعية: metabolism [Zebrafish Proteins], RESIDUE, metabolism [Histones], GENES, Somatic cell, CODE, cancer mutation, histone, Biology, VARIANTS, medicine.disease_cause, progressive neurologic dysfunction, Histones, 03 medical and health sciences, Histone H3, 0302 clinical medicine, Germline mutation, SDG 3 - Good Health and Well-being, histone, neurodevelopmental disorder, progressive neurologic dysfunction, congenital anomalies, cancer mutation, medicine, Animals, Humans, H3-3A protein, human, metabolism [Zebrafish], TRANSCRIPTION, PHOSPHORYLATION, Gene, Zebrafish, Germ-Line Mutation, 030304 developmental biology, Genetics, genetics [Zebrafish], 0303 health sciences, Multidisciplinary, foxd3 protein, zebrafish, congenital anomalies, Forkhead Transcription Factors, Zebrafish Proteins, biology.organism_classification, genetics [Histones], neurodevelopmental disorder, H3F3B, Histone, genetics [Forkhead Transcription Factors], genetics [Neurodegenerative Diseases], biology.protein, ddc:500, Carcinogenesis, 030217 neurology & neurosurgery

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7f2c29be398973d47026c90ba29e60cdTest
https://doi.org/10.1126/sciadv.abc9207Test

10

The Mucolipidosis Collaborative Research Network (MCRN)

المؤلفون: Heather Flanagan-Steet, N. Matthew Ellinwood, Jennifer J. Klein, Alessandra d'Azzo, Sara S. Cathey, Thomas Braulke, Jenny Noble, Joshua A. Stern, Terri L. Klein, Allison M. Bradbury, Richard Steet

المصدر: Molecular Genetics and Metabolism. 132:S58

مصطلحات موضوعية: Pediatrics, medicine.medical_specialty, Endocrinology, Mucolipidosis, business.industry, Endocrinology, Diabetes and Metabolism, Genetics, medicine, medicine.disease, business, Molecular Biology, Biochemistry

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::86bca19285b133e1c2927c5f4bdcffc4Test
https://doi.org/10.1016/j.ymgme.2020.12.129Test

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