المؤلفون: Rudrarup Bhattacharjee, Lachlan A. Jolly, Mark A. Corbett, Ing Chee Wee, Sushma R. Rao, Alison E. Gardner, Tarin Ritchie, Eline J. H. van Hugte, Ummi Ciptasari, Sandra Piltz, Jacqueline E. Noll, Nazzmer Nazri, Clare L. van Eyk, Melissa White, Dani Fornarino, Cathryn Poulton, Gareth Baynam, Lyndsey E. Collins-Praino, Marten F. Snel, Nael Nadif Kasri, Kim M. Hemsley, Paul Q. Thomas, Raman Kumar, Jozef Gecz

المصدر: Nature Communications, Vol 15, Iss 1, Pp 1-25 (2024)

مصطلحات موضوعية: Science

وصف الملف: electronic resource

Relation: https://doaj.org/toc/2041-1723

URL الوصول: https://doaj.org/article/f655e25df84a4da1addb5bf08b495565

المؤلفون: Rebekah de Nys, Clare L. van Eyk, Tarin Ritchie, Rikke S. Møller, Ingrid E. Scheffer, Carla Marini, Rudrarup Bhattacharjee, Raman Kumar, Jozef Gecz

المصدر: Translational Psychiatry, Vol 14, Iss 1, Pp 1-9 (2024)

مصطلحات موضوعية: Neurosciences. Biological psychiatry. Neuropsychiatry, RC321-571

وصف الملف: electronic resource

Relation: https://doaj.org/toc/2158-3188

URL الوصول: https://doaj.org/article/49c5d18714fc434c9a7aaf572909f7c5

المؤلفون: Thuong T. Ha, Rosemary Burgess, Morgan Newman, Ching Moey, Simone A. Mandelstam, Alison E. Gardner, Atma M. Ivancevic, Duyen Pham, Raman Kumar, Nicholas Smith, Chirag Patel, Stephen Malone, Monique M. Ryan, Sophie Calvert, Clare L. van Eyk, Michael Lardelli, Samuel F. Berkovic, Richard J. Leventer, Linda J. Richards, Ingrid E. Scheffer, Jozef Gecz, Mark A. Corbett

المصدر: Genes; Volume 14; Issue 8; Pages: 1565

مصطلحات موضوعية: X-linked, sex bias, DNA sequencing, developmental epileptic encephalopathy, wnt signalling, DNA repair

جغرافية الموضوع: agris

وصف الملف: application/pdf

Relation: Human Genomics and Genetic Diseases; https://dx.doi.org/10.3390/genes14081565

الاتاحة: https://doi.org/10.3390/genes14081565

المؤلفون: Sayaka Kayumi, Luis A. Pérez-Jurado, María Palomares, Sneha Rangu, Sarah E. Sheppard, Wendy K. Chung, Michael C. Kruer, Mira Kharbanda, David J. Amor, George McGillivray, Julie S. Cohen, Sixto García-Miñaúr, Clare L. van Eyk, Kelly Harper, Lachlan A. Jolly, Dani L. Webber, Christopher P. Barnett, Fernando Santos-Simarro, Marta Pacio-Míguez, Angela del Pozo, Somayeh Bakhtiari, Matthew Deardorff, Holly A. Dubbs, Kosuke Izumi, Katheryn Grand, Christopher Gray, Paul R. Mark, Elizabeth J. Bhoj, Dong Li, Xilma R. Ortiz-Gonzalez, Beth Keena, Elaine H. Zackai, Ethan M. Goldberg, Guiomar Perez de Nanclares, Arrate Pereda, Isabel Llano-Rivas, Ignacio Arroyo, María Ángeles Fernández-Cuesta, Christel Thauvin-Robinet, Laurence Faivre, Aurore Garde, Benoit Mazel, Ange-Line Bruel, Michael L. Tress, Eva Brilstra, Amena Smith Fine, Kylie E. Crompton, Alexander P.A. Stegmann, Margje Sinnema, Servi C.J. Stevens, Joost Nicolai, Gaetan Lesca, Laurence Lion-François, Damien Haye, Nicolas Chatron, Amelie Piton, Mathilde Nizon, Benjamin Cogne, Siddharth Srivastava, Jennifer Bassetti, Candace Muss, Karen W. Gripp, Rebecca A. Procopio, Francisca Millan, Michelle M. Morrow, Melissa Assaf, Andres Moreno-De-Luca, Shelagh Joss, Mark J. Hamilton, Marta Bertoli, Nicola Foulds, Shane McKee, Alastair H. MacLennan, Jozef Gecz, Mark A. Corbett

المساهمون: MUMC+: DA KG Lab Specialisten (9), MUMC+: DA KG Polikliniek (9), Klinische Neurowetenschappen, MUMC+: MA Med Staf Spec Neurologie (9), RS: MHeNs - R1 - Cognitive Neuropsychiatry and Clinical Neuroscience

المصدر: Genetics in Medicine, 24(11), 2351-2366. Nature Publishing Group

مصطلحات موضوعية: Phenotype, Neurodevelopmental Disorders, Autism, Intellectual Disability, Familial exudative vitreoretinopathy, Microcephaly, Cerebral palsy, Humans, Genomics, Wnt Signaling Pathway, Genetics (clinical), Wnt beta catenin signaling pathway, beta Catenin

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::39da46305e279508a3404a4fa7b9a021
https://cris.maastrichtuniversity.nl/en/publications/8765aa6f-3ad3-4759-bfa6-47bb6f32b0fc

المؤلفون: Manju A. Kurian, David J. Amor, Sarah McIntyre, Jozef Gecz, Clare L. van Eyk, Andres Moreno-De-Luca, Michael C Fahey, Gareth Baynam, Richard F. Wintle, Hayley Smithers-Sheedy, Bo Jacobsson, Carlos Santos Ocaña, Alastair H. MacLennan, Carina Mallard, Peter J. Rosenbaum, Michael C. Kruer, Changlian Zhu, Kate Himmelmann, Darcy Fehlings, Mikko Hallman, Yana Wilson, Hilla Ben-Pazi, Mark A. Corbett, Luis A. Pérez-Jurado, Nadia Badawi, Sara A. Lewis, Xiaoyang Wang, Richard J. Leventer

المصدر: Digital.CSIC. Repositorio Institucional del CSIC
instname
Journal of Child Neurology

مصطلحات موضوعية: Pediatrics, medicine.medical_specialty, Causation, Cerebral palsy, causation, 03 medical and health sciences, Epilepsy, Social support, 0302 clinical medicine, Neurodevelopmental disorder, 030225 pediatrics, genomics, medicine, Humans, cerebral palsy, Clinical definition, business.industry, Genetic variants, High-Throughput Nucleotide Sequencing, Genomics, medicine.disease, clinical definition, Clinical diagnosis, Pediatrics, Perinatology and Child Health, Etiology, Neurology (clinical), business, Topical Review Article, 030217 neurology & neurosurgery

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::754482e5a4aa25f7dec397332045a114
https://doi.org/10.1177/0883073819840449

المؤلفون: Alina Kurolap, Florian Kreuder, Claudia Gonzaga-Jauregui, Morasha Plesser Duvdevani, Tamar Harel, Luna Tammer, Baozhong Xin, Somayeh Bakhtiari, James Rice, Clare L. van Eyk, Jozef Gecz, Jean K. Mah, Derek Atkinson, Heidi Cope, Jennifer A. Sullivan, Alon M. Douek, Daniel Colquhoun, Jason Henry, Donald Wlodkowic, Yesim Parman, Ayşe Candayan, Elif Kocasoy-Orhan, Anat Ilivitzki, Shiri Soudry, Rina Leibu, Fabian Glaser, Valerie Sency, Gil Ast, Vandana Shashi, Michael C. Fahey, Esra Battaloğlu, Albena Jordanova, Vardiella Meiner, A. Micheil Innes, Heng Wang, Orly Elpeleg, Michael C. Kruer, Jan Kaslin, Hagit Baris Feldman

المساهمون: Undiagnosed Diseases Network

المصدر: Am J Hum Genet
The American journal of human genetics

مصطلحات موضوعية: Cell Adhesion Molecules, Neuronal, Peripheral Nervous System Diseases, Axons, Article, Mice, Muscle Spasticity, Neurodevelopmental Disorders, Genetics, Cell Adhesion, Animals, Humans, Muscle Hypotonia, Human medicine, Cell Adhesion Molecules, Genetics (clinical), Zebrafish

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::728e55ef43dca6709d1765690d9d96c9
https://pubmed.ncbi.nlm.nih.gov/35108495

المؤلفون: Serdal Güngör, Benita Grossmann, Bethany Y. Norton, Zubair M. Ahmed, Wendy K. Chung, John Neidhardt, Julie S. Cohen, Elodie Richard, Yoel Hirsch, Jiankang Li, Jozef Gecz, Ralf A. Husain, Saima Riazuddin, Maria J. Guillen Sacoto, Claudia Steen, Andreas Ziegler, G. Christoph Korenke, Dominic Lenz, Mahim Jain, Urania Kotzaeridou, Henry Houlden, Theresa Brunet, Yavuz Oktay, Semra Hiz, Patricia Cornejo, Sheetal Shetty, Alastair H. MacLennan, Nazira Zharkinbekova, Bader Alhaddad, Dani L. Webber, Mary Alice Abbott, Hanns Lochmüller, Rauan Kaiyrzhanov, Melissa Yelton, Cecilia Mancini, Hakon Hakonarson, Amy Crunk, Simona Amenta, Yiran Guo, Jan Kaslin, Clare L. van Eyk, Richard Webster, Arianna Tucci, Alex M. Pagnozzi, Robert B. Hufnagel, Kirsty McWalter, Sandra M. Nordlie, Kaya Bilguvar, Pasquale Striano, Matias Wagner, Florian Kreuder, Lisa Worgan, Ashley P.L. Marsh, Anna Chassevent, Warren A. Marks, James Liu, Brandon S. Guida, Maria Margherita Mancardi, Kelly Harper, Lance H. Rodan, Rhonda E. Schnur, Dianela Judith Claps Sepulveda, Tzvi Weiden, Michele Pinelli, Marion Rapp, Helen Magee, Jesia G. Berry, Aboulfazl Rad, Michael C. Kruer, Mark A. Corbett, Rita Horvath, Constance Smith-Hicks, Joseph Ekstein, Marta Owczarek-Lipska, Somayeh Bakhtiari, Heinrich Sticht, Thomas Meitinger, Anne M. Comi, Alyssa Blesson, Iris Marquardt, Francesca Clementina Radio, Sergio Padilla-Lopez, Giuseppe Marangi, Christine Makowski, Mona Grimmel, Marco Tartaglia, Sheng Chih Jin, Federico Zara, Andreas Hahn, Shrikant Mane, Michael C Fahey, Marcella Zollino, Barbara Vona, Peter D. Turnpenny, Manuela Morleo, Ute Grasshoff, Amber Begtrup, Richard E. Person, Annalaura Torella, Alexander Münchau, Vincenzo Nigro, Reza Maroofian, John Christodoulou, Tobias B. Haack, Vincenzo Salpietro

المساهمون: Richard, E. M., Bakhtiari, S., Marsh, A. P. L., Kaiyrzhanov, R., Wagner, M., Shetty, S., Pagnozzi, A., Nordlie, S. M., Guida, B. S., Cornejo, P., Magee, H., Liu, J., Norton, B. Y., Webster, R. I., Worgan, L., Hakonarson, H., Li, J., Guo, Y., Jain, M., Blesson, A., Rodan, L. H., Abbott, M. -A., Comi, A., Cohen, J. S., Alhaddad, B., Meitinger, T., Lenz, D., Ziegler, A., Kotzaeridou, U., Brunet, T., Chassevent, A., Smith-Hicks, C., Ekstein, J., Weiden, T., Hahn, A., Zharkinbekova, N., Turnpenny, P., Tucci, A., Yelton, M., Horvath, R., Gungor, S., Hiz, S., Oktay, Y., Lochmuller, H., Zollino, M., Morleo, M., Marangi, G., Nigro, V., Torella, A., Pinelli, M., Amenta, S., Husain, R. A., Grossmann, B., Rapp, M., Steen, C., Marquardt, I., Grimmel, M., Grasshoff, U., Korenke, G. C., Owczarek-Lipska, M., Neidhardt, J., Radio, F. C., Mancini, C., Claps Sepulveda, D. J., Mcwalter, K., Begtrup, A., Crunk, A., Guillen Sacoto, M. J., Person, R., Schnur, R. E., Mancardi, M. M., Kreuder, F., Striano, P., Zara, F., Chung, W. K., Marks, W. A., van Eyk, C. L., Webber, D. L., Corbett, M. A., Harper, K., Berry, J. G., Maclennan, A. H., Gecz, J., Tartaglia, M., Salpietro, V., Christodoulou, J., Kaslin, J., Padilla-Lopez, S., Bilguvar, K., Munchau, A., Ahmed, Z. M., Hufnagel, R. B., Fahey, M. C., Maroofian, R., Houlden, H., Sticht, H., Mane, S. M., Rad, A., Vona, B., Jin, S. C., Haack, T. B., Makowski, C., Hirsch, Y., Riazuddin, S., Kruer, M. C.

المصدر: Am. J. Hum. Genet. 108, 2006-2016 (2021)
Am J Hum Genet

مصطلحات موضوعية: Male, Microcephaly, Pathology, Settore MED/03 - GENETICA MEDICA, sensorineural hearing loss, Epilepsy, Neurodevelopmental disorder, sensorineural hearing lo, Genetics (clinical), Allele, ATPases Associated with Diverse Cellular Activitie, medicine.anatomical_structure, Muscle Spasticity, Child, Preschool, Sensorineural hearing loss, Female, movement disorder, medicine.symptom, AAA+ superfamily, Human, Adult, medicine.medical_specialty, Adolescent, Hearing loss, Aaa+ Superfamily, Atpase, Spata5l1, Cerebral Palsy, Intellectual Disability, Movement Disorder, Neurodevelopmental Disorder, Sensorineural Hearing Loss, Biology, Cerebral palsy, White matter, Young Adult, Report, Genetics, medicine, Animals, Humans, ATPase, Genetic Predisposition to Disease, Hearing Loss, SPATA5L1, Hearing Lo, Alleles, cerebral palsy, Periventricular leukomalacia, Animal, Infant, Newborn, Infant, Genetic Variation, medicine.disease, neurodevelopmental disorder, Rats, ATPases Associated with Diverse Cellular Activities, Rat

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1887f7ac3875dcbc64050199115f63ee
https://push-zb.helmholtz-muenchen.de/frontdoor.php?source_opus=63291

المؤلفون: Jeff L. Waugh, Mahalia S.B. Frank, Xiaoyang Wang, Antigone Papavasileiou, Michael C. Sierant, Nadia Badawi, Bohao Zhang, Chongchen Zhou, Sheetal Shetty, Sheng Chih Jin, Susan M Reid, Changlian Zhu, Francisca Millan, Suzanna C. MacLennan, Julien Buratti, David J. Amor, Stephen Pastore, Lance H. Rodan, Timothy Feyma, Janice E. Brunstrom-Hernandez, Kylie E. Crompton, Megan Cho, Helen Magee, Sergio Padilla-Lopez, Julie S. Cohen, Daniela C. Zarnescu, Richard P. Lifton, Aureliane Elie, Michael C. Kruer, Qiongshi Lu, Sandra Whalen, Christopher Castaldi, John B. Vincent, Chao Gao, Irina Tikhonova, Ali Fatemi, Qinghe Xing, Dinah Reddihough, Lei Xia, Bethany Y. Norton, Shozeb Haider, Shrikant Mane, Yana A. Wilson, Dengna Zhu, Yangong Wang, Somayeh Bakhtiari, Francesc López-Giráldez, Michael C Fahey, Clare L. van Eyk, Sarah McIntyre, Jozef Gecz, Junhui Zhang, Xue Zeng, Jennifer Heim, Iona Novak, Spencer Vaughan, John P. Phillips, Sara A. Lewis, Angela E. Lin, Diane Doummar, Mark A. Corbett, Kyle Retterer, James R. Knight, Qing Shang, Boyang Li, Yiran Xu, James Liu, Boris Keren, Sandra M. Nordlie, Kaya Bilguvar, Amar H. Sheth, Dani L. Webber, Alastair H. MacLennan, Brandon S. Guida, Kelly Harper, Jesia G. Berry

المصدر: Nat Genet

مصطلحات موضوعية: Male, Cyclin D, RHOB, medicine.disease_cause, Article, Cerebral palsy, 03 medical and health sciences, 0302 clinical medicine, Risk Factors, Tubulin, Exome Sequencing, RhoB GTP-Binding Protein, Neurites, Genetics, medicine, Animals, Humans, Exome, Genetic Predisposition to Disease, rhoB GTP-Binding Protein, Cytoskeleton, beta Catenin, Exome sequencing, 030304 developmental biology, Focal Adhesions, 0303 health sciences, Mutation, biology, Genome, Human, Cerebral Palsy, F-Box Proteins, Tumor Suppressor Proteins, Sequence Analysis, DNA, medicine.disease, Human genetics, Extracellular Matrix, biology.protein, Drosophila, Female, 030217 neurology & neurosurgery, Signal Transduction

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::81b61cf5154431c4aea3d318e3b9d69a
https://europepmc.org/articles/PMC9148538/

المؤلفون: Jozef Gecz, Mark A. Corbett, Lyle J. Palmer, Alastair H. MacLennan, Ben W.J. Mol, Jesia G. Berry, Clare L. van Eyk, Dani L. Webber, Ryan Pham, Suzanna C. MacLennan

المصدر: Developmental medicine and child neurologyReferences. 62(9)

مصطلحات موضوعية: Genetics, 030506 rehabilitation, Consensus, Databases, Factual, business.industry, Cerebral Palsy, Guidelines as Topic, medicine.disease, Cerebral palsy, 03 medical and health sciences, 0302 clinical medicine, Phenotype, Developmental Neuroscience, Population Surveillance, Pediatrics, Perinatology and Child Health, Medicine, Humans, Neurology (clinical), Registries, 0305 other medical science, business, 030217 neurology & neurosurgery

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1e0c35c8bc0bcb8fc8eb3e103721c880
https://pubmed.ncbi.nlm.nih.gov/32597500

المؤلفون: Kynan T Lawlor, Louise V O'Keefe, Saumya E Samaraweera, Clare L van Eyk, Robert I Richards

المصدر: PLoS ONE, Vol 7, Iss 6, p e38516 (2012)

مصطلحات موضوعية: Medicine, Science

وصف الملف: electronic resource

Relation: http://europepmc.org/articles/PMC3371033?pdf=render; https://doaj.org/toc/1932-6203

URL الوصول: https://doaj.org/article/256d0f9c10be499c9d73fafc04fd0e9d

المؤلفون: Clare L. Van Eyk, Louise V. O’keefe, Kynan T. Lawlor, Saumya E. Samaraweera, Catherine J. Mcleod, Gareth R. Price, Deon J. Venter, Robert I. Richards

المساهمون: The Pennsylvania State University CiteSeerX Archives

المصدر: ftp://ftp.ncbi.nlm.nih.gov/pub/pmc/9e/7a/Hum_Mol_Genet_2011_Jul_15_20(14)_2783-2794.tar.gz

وصف الملف: application/zip

Relation: http://citeseerx.ist.psu.edu/viewdoc/summary?doi=10.1.1.291.1768

الاتاحة: http://citeseerx.ist.psu.edu/viewdoc/summary?doi=10.1.1.291.1768

المؤلفون: Jozef Gecz, Dani L. Webber, Kelly Harper, Stephen J. Bent, Luis A. Pérez-Jurado, Jesia G. Berry, Morgan Newman, Mark A. Corbett, Dimitar N. Azmanov, Alastair H. MacLennan, Jennie Slee, Clare L. van Eyk, Karen J. Woodward, Alison Gardner

المصدر: NPJ Genomic Medicine
npj Genomic Medicine, Vol 4, Iss 1, Pp 1-1 (2019)

مصطلحات موضوعية: Genetics, lcsh:QH426-470, lcsh:R, lcsh:Medicine, Biology, medicine.disease, Affect (psychology), Article, DNA sequencing, Cerebral palsy, Structural variation, lcsh:Genetics, Gene expression, medicine, Copy-number variation, Molecular Biology, Genetics (clinical)

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::23c0504d5ab9f859ab088470934dcafc
https://doi.org/10.1038/s41525-019-0086-7

المؤلفون: Mahalia S.B. Frank, Chao Gao, Brandon S. Guida, Dani L. Webber, Aureliane Elie, Bohao Zhang, Kelly Harper, Richard P. Lifton, Dengna Zhu, Jesia G. Berry, Iona Novak, Xiaoyang Wang, Antigone Papavasileiou, Yana A. Wilson, Francesc López-Giráldez, Michael C Fahey, Sergio Padilla-Lopez, Boris Keren, Jozef Gecz, Jeff L. Waugh, Shozeb Haider, Michael C. Sierant, Kyle Retterer, Sandra Whalen, Yangong Wang, Lance H. Rodan, Clare L. van Eyk, Megan Cho, Qiongshi Lu, Sheetal Shetty, John P. Phillips, Stephen Pastore, John B. Vincent, Chongchen Zhou, Sara A. Lewis, Bethany Y. Norton, Xue Zeng, Timothy Feyma, Qing Shang, Mark A. Corbett, Janice E. Brunstrom-Hernandez, Susan M Reid, Julie S. Cohen, Michael C. Kruer, Christopher Castaldi, Nadia Badawi, Spencer Vaughan, Qinghe Xing, Sandra M. Nordlie, Daniela C. Zarnescu, Angela E. Lin, David J. Amor, Sarah McIntyre, Julien Buratti, Jennifer Heim, Shrikant Mane, Yiran Xu, Suzanna C. MacLennan, Helen Magee, Somayeh Bakhtiari, Amar H. Sheth, Changlian Zhu, Alastair H. MacLennan, Kylie E. Crompton, Kaya Bilguvar, Sheng Chih Jin, Junhui Zhang, Diane Doummar, Francisca Millan, Irina Tikhonova, Ali Fatemi, Dinah Reddihough, Lei Xia, Hongyu Zhao, James Liu, James R. Knight, Boyang Li

المصدر: Nature Genetics. 53:412-412

مصطلحات موضوعية: Genetics, MEDLINE, medicine, Biology, Bioinformatics, medicine.disease, Gene, Cerebral palsy

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::5fdf94d678bf369d76672a207612e4c1
https://doi.org/10.1038/s41588-021-00780-8

المؤلفون: Saumya E. Samaraweera, Dani L. Webber, David P Harvey, Louise V. O'Keefe, Joshua Ho, Andrew Scott, Olivia Mecinger, Jennifer E. Cropley, Robert I. Richards, Catherine M. Suter, Paul M. Young, Clare L. van Eyk

المساهمون: van Eyk, Clare L, Samaraweera, Saumya E, Scott, Andrew, Webber, Dani L, Harvey, David P, Mecinger, Olivia, O'Keefe, Louise V, Cropley, Jennifer E, Young, Paul, Ho, Joshua, Suter, Catherine, Richards, Robert I

مصطلحات موضوعية: 0301 basic medicine, DNA Copy Number Variations, double-stranded, RNA activation, Biology, medicine.disease_cause, Pathogenesis, rna interference, 03 medical and health sciences, 0302 clinical medicine, RNA interference, antiviral agents, Genetics, medicine, Animals, Drosophila Proteins, rna, Cricket paralysis virus, Molecular Biology, Genetics (clinical), Disease Resistance, RNA, Double-Stranded, Mutation, cottontail rabbit papillomavirus, RNA-Binding Proteins, RNA, Neurodegenerative Diseases, General Medicine, drosophila, biology.organism_classification, Disease Models, Animal, RNA silencing, 030104 developmental biology, Virus Diseases, inflammation, neurodegenerative disorders, Argonaute Proteins, Host-Pathogen Interactions, Dicistroviridae, Drosophila, RNA Interference, pathology, mutation, Trinucleotide Repeat Expansion, Trinucleotide repeat expansion, talkative, 030217 neurology & neurosurgery

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9bc22bae002e7800414eeba5f99b44c0
https://hdl.handle.net/11541.2/29159

المؤلفون: Alison Gardner, Mark A. Corbett, Clare L. van Eyk, Bregje W.M. van Bon, Jessica L. Broadbent, Jozef Gecz, Alastair H. MacLennan, Kelly Harper

المصدر: Translational Psychiatry, 8,
Translational Psychiatry, 8, pp.
Translational Psychiatry
Translational Psychiatry, Vol 8, Iss 1, Pp 1-10 (2018)

مصطلحات موضوعية: Male, 0301 basic medicine, Autism Spectrum Disorder, Gene regulatory network, Biology, Article, lcsh:RC321-571, Cell Line, Cerebral palsy, Cohort Studies, Transcriptome, 03 medical and health sciences, Cellular and Molecular Neuroscience, 0302 clinical medicine, All institutes and research themes of the Radboud University Medical Center, Exome Sequencing, medicine, Humans, Receptor, trkB, Gene Regulatory Networks, Genetic Predisposition to Disease, Receptor, Fibroblast Growth Factor, Type 1, lcsh:Neurosciences. Biological psychiatry. Neuropsychiatry, Biological Psychiatry, Exome sequencing, Genetics, Membrane Glycoproteins, Cerebral Palsy, Gene Expression Profiling, Gene Expression Regulation, Developmental, Molecular Abnormality, medicine.disease, Gene expression profiling, Psychiatry and Mental health, 030104 developmental biology, Autism spectrum disorder, Autism, Female, 030217 neurology & neurosurgery, Signal Transduction, Rare cancers Radboud Institute for Health Sciences [Radboudumc 9]

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3d86bf512e10f431b68e289303bae113
https://hdl.handle.net/2066/191582

المؤلفون: Robert I. Richards, Kynan T. Lawlor, Thurston H. Y. Dang, Catherine J. McLeod, Louise V. O'Keefe, Clare L. van Eyk, Catherine M. Suter, Saumya E. Samaraweera, Christopher A. Maloney

المساهمون: Lawlor, Kynan T, O'Keefe, Louise V, Samaraweera, Saumya E, van Eyk, Care L, McLeod, Catherine J, Maloney, Christopher A, Dang, Thurston HY, Suter, Catherine M, Richards, Robert I

المصدر: Human Molecular Genetics. 20:3757-3768

مصطلحات موضوعية: Male, Ribonuclease III, polymerase chain reaction diptera drosophila genes neurodegenerative disorders neurons rna, Biology, Animals, Genetically Modified, Transcription (biology), microRNA, Genetics, Animals, Drosophila Proteins, Humans, Molecular Biology, Gene, Genetics (clinical), RNA, Double-Stranded, Neurons, double-stranded eye pathology rna toxic effect micro rna polyglutamine, RNA, Neurodegenerative Diseases, General Medicine, Disease Models, Animal, RNA silencing, Nucleic Acid Conformation, Drosophila, Female, Dicer Pathway, Trinucleotide Repeat Expansion, Trinucleotide repeat expansion, RNA Helicases, Drosophila Protein

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d4ca4793239176a83e8915cc0f9b3d7d
https://doi.org/10.1093/hmg/ddr292

المؤلفون: Catherine J. McLeod, Kynan T. Lawlor, Robert I. Richards, Louise V. O'Keefe, Deon J. Venter, Clare L. van Eyk, Saumya E. Samaraweera, Gareth Price

المساهمون: Van Eyk, Clare L, O'Keefe, Louise V, Lawlor, Kynan T, Samaraweera, Saumya E, McLeod, Catherine J, Price, Gareth R, Venter, Deon J, Richards, Robert I

المصدر: Human Molecular Genetics

مصطلحات موضوعية: AUUCU, Gene Expression, CUG, Biology, Glycogen Synthase Kinase 3, 03 medical and health sciences, 0302 clinical medicine, Gene expression, Genetics, medicine, Animals, Drosophila Proteins, Small nucleolar RNA, Molecular Biology, Gene, Genetics (clinical), Repetitive Sequences, Nucleic Acid, 030304 developmental biology, 0303 health sciences, Glycogen Synthase Kinase 3 beta, CAG, Neurodegeneration, RNA, Neurodegenerative Diseases, Articles, General Medicine, drosophila, medicine.disease, Hedgehog signaling pathway, Long non-coding RNA, 3. Good health, Drosophila melanogaster, Proto-Oncogene Proteins c-akt, 030217 neurology & neurosurgery, Drosophila Protein, Signal Transduction

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::43e69ff110a5ccc977e8a659670a6845
https://doi.org/10.1093/hmg/ddr177

المؤلفون: Clare L. van Eyk, Catherine M. Suter, Saumya E. Samaraweera, Louise V. O'Keefe, Robert I. Richards

المساهمون: Richards, Robert I, Samaraweera, Saumya E, Van, Eyk Clare L, O'Keefe, Louise V, Suter, Catherine M

المصدر: Frontiers in Molecular Neuroscience, Vol 6 (2013)
Frontiers in Molecular Neuroscience

مصطلحات موضوعية: Programmed cell death, Biology, neuro-degeneration, lcsh:RC321-571, Cellular and Molecular Neuroscience, Toll-like receptor, medicine, Molecular Biology, lcsh:Neurosciences. Biological psychiatry. Neuropsychiatry, Genetics, innate inflammation, Neurodegeneration, Autophagy, neurodegeneration, RNA, RNA pathogenesis, medicine.disease, Cell biology, RNA silencing, expanded repeat diseases, Innate inflammation, biology.protein, Trinucleotide repeat expansion, Hypothesis & Theory Article, Dicer, Neuroscience

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::22e054fc1ffc85a927a1b56e00fdee5c
http://journal.frontiersin.org/Journal/10.3389/fnmol.2013.00025/full

المؤلفون: Clare L. van Eyk, Robert I. Richards

المصدر: Advances in Experimental Medicine and Biology ISBN: 9781461454335

مصطلحات موضوعية: Genetics, Mutation, Ataxia, Biology, medicine.disease_cause, medicine.disease, Bioinformatics, Myotonic dystrophy, Oculopharyngeal muscular dystrophy, Atrophy, medicine, Spinocerebellar ataxia, medicine.symptom, Trinucleotide repeat expansion, Fragile X-associated tremor/ataxia syndrome

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::400d2807b7a1b6e484cafb51ee786c35
https://doi.org/10.1007/978-1-4614-5434-2_5

المؤلفون: Robert I. Richards, Clare L. van Eyk, Catherine J. McLeod, Louise V. O'Keefe

المصدر: Human molecular genetics. 21(3)

مصطلحات موضوعية: Male, Repetitive Sequences, Amino Acid, Reading frame, Disease, Eye, Animals, Genetically Modified, Genetics, Animals, Drosophila (subgenus), Molecular Biology, Genetics (clinical), Normal range, chemistry.chemical_classification, Brain Chemistry, Neurons, biology, General Medicine, biology.organism_classification, Amino acid, chemistry, Toxicity, Models, Animal, Ectopic expression, Drosophila, Nervous System Diseases, Trinucleotide repeat expansion, Peptides, Trinucleotide Repeat Expansion

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4629c1e6ca2831dea142f4e12c99ac79
https://pubmed.ncbi.nlm.nih.gov/22021427