المؤلفون: Lauren Rylaarsdam, Jennifer Rakotomamonjy, Eleanor Pope, Alicia Guemez-Gamboa

المصدر: Nature Communications, Vol 15, Iss 1, Pp 1-18 (2024)

مصطلحات موضوعية: Science

وصف الملف: electronic resource

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

URL الوصول: https://doaj.org/article/2890d7880e47413781d999c1de898440

المؤلفون: Annika L. Schroder, Martin Fairbanks-Santana, Jennifer Rakotomamonjy, Alicia Guemez-Gamboa

المصدر: STAR Protocols, Vol 5, Iss 1, Pp 102904- (2024)

مصطلحات موضوعية: Microscopy, Neuroscience, Stem Cells, Cell Differentiation, Organoids, Science (General), Q1-390

وصف الملف: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S2666166724000698; https://doaj.org/toc/2666-1667

URL الوصول: https://doaj.org/article/08c687bbdb8e4128bbcf5421a8463593

المؤلفون: Jennifer Rakotomamonjy, Lauren Rylaarsdam, Lucas Fares-Taie, Sean McDermott, Devin Davies, George Yang, Fikayo Fagbemi, Maya Epstein, Martín Fairbanks-Santana, Jean-Michel Rozet, Alicia Guemez-Gamboa

المصدر: Cell Reports, Vol 42, Iss 8, Pp 112845- (2023)

مصطلحات موضوعية: CP: Developmental biology, CP: Molecular biology, Biology (General), QH301-705.5

وصف الملف: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S2211124723008562; https://doaj.org/toc/2211-1247

URL الوصول: https://doaj.org/article/a5c3b350dc4b4443be333218fe024042

المؤلفون: Luis B. Tovar-y-Romo, Alicia Guemez-Gamboa, João M. N. Duarte

المصدر: Frontiers in Cell and Developmental Biology, Vol 9 (2021)

مصطلحات موضوعية: neuronal death mechanisms, neuronal recovery, neuroinflammation, transcriptome, axon regeneration, CNS injury and repair, Biology (General), QH301-705.5

وصف الملف: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fcell.2021.733066/full; https://doaj.org/toc/2296-634X

URL الوصول: https://doaj.org/article/ea62fa1ea66d4b1995891759b3d36d4b

المؤلفون: Lauren Rylaarsdam, Alicia Guemez-Gamboa

المصدر: Frontiers in Cellular Neuroscience, Vol 13 (2019)

مصطلحات موضوعية: autism spectrum disorder, genetic modifiers, CNV, epigenetics, gene-environment interaction, Neurosciences. Biological psychiatry. Neuropsychiatry, RC321-571

وصف الملف: electronic resource

Relation: https://www.frontiersin.org/article/10.3389/fncel.2019.00385/full; https://doaj.org/toc/1662-5102

URL الوصول: https://doaj.org/article/fd1f1a23350143fba5bb82162d26d81e

المؤلفون: Jennifer Rakotomamonjy, Lauren Rylaarsdam, Lucas Fares-Taie, Sean McDermott, Devin Davies, George Yang, Fikayo Fagbemi, Maya Epstein, Alicia Guemez-Gamboa

المصدر: bioRxiv

مصطلحات موضوعية: Article

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::dbdfbfa31ed35337d15254fc84af6ed3
https://europepmc.org/articles/PMC9881913/

المؤلفون: Lauren Rylaarsdam, Jennifer Rakotomamonjy, Eleanor Pope, Alicia Guemez-Gamboa

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::b20ec26fb32b487db6688b5aff7cfac3
https://doi.org/10.1101/2022.05.13.491892

المؤلفون: Taruna Reddy, Lauren Rylaarsdam, Alicia Guemez-Gamboa

المصدر: Trends in genetics : TIG. 38(2)

مصطلحات موضوعية: Rare Diseases, Work (electrical), Neurodevelopmental Disorders, Research community, Intellectual Disability, Genetics, Vesicular Transport Proteins, Foundation (evidence), Humans, Engineering ethics, Syndrome, Biology, Rare disease

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b8208e86286268663c0ad8fd5aab9972
https://pubmed.ncbi.nlm.nih.gov/34836651

المؤلفون: Elizabeth Roeder, Christelle Moufawad El Achkar, Amy L Schneider, Carmen Barba, Samuel F. Berkovic, Eva H. Brilstra, R Guerrini, Heather C. Mefford, Annalisa Vetro, Emily Bryant, Tiziana Pisano, Alison M. Muir, Gemma L. Carvill, P. Ian Andrews, Jennifer Rakotomamonjy, Elysa J. Marco, Hadassa Goldberg-Stern, Kyle R Christensen, Richard H. van Jaarsveld, Simone Mandelstam, Satoko Kumada, Rebecca O. Littlejohn, Berkley Schmidt, Lance H. Rodan, Kazuhiro Iwama, Ingrid E. Scheffer, Kirsty McWalter, Linda Laux, Patrick W. Carney, Alicia Guemez-Gamboa, Naomichi Matsumoto, Angus C. Nairn, William G. Wilson, Jessica Giannelli, John Millichap, Egidio Spinelli

المصدر: Ann Neurol
Paediatrics Publications

مصطلحات موضوعية: Adult, Male, Adolescent, Biology, Protein Serine-Threonine Kinases, Corpus callosum, Article, Cohort Studies, Epilepsy, Mice, Young Adult, Neurodevelopmental disorder, medicine, Missense mutation, Animals, Humans, Amino Acid Sequence, Child, Gene, Exome sequencing, Genetics, Seizure types, HEK 293 cells, Genetic Variation, medicine.disease, Mice, Inbred C57BL, HEK293 Cells, Neurology, Female, Neurology (clinical), Microtubule-Associated Proteins, Follow-Up Studies

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f2304cc8e9bc6f230b189ebbfb8718c0
https://europepmc.org/articles/PMC8324566/

المؤلفون: Lauren Rylaarsdam, Jennifer Rakotomamonjy, Alicia Guemez-Gamboa

المصدر: Neuron. 107(1)

مصطلحات موضوعية: 0301 basic medicine, Brain Diseases, Brain development, Hyperglycinemia, General Neuroscience, Ubiquitin-Protein Ligases, Regulator, Pyrroline Carboxylate Reductases, Glycine, Biology, medicine.disease, Hypomyelinating leukodystrophy, 03 medical and health sciences, 030104 developmental biology, 0302 clinical medicine, medicine, Humans, Neuroscience, 030217 neurology & neurosurgery

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d42bae89eda5b5c8ff646d2a85fdfed6
https://pubmed.ncbi.nlm.nih.gov/32330411

المؤلفون: Denice Belandres, Hüseyin Per, Noam Shomron, Ayşe Kaçar Bayram, Ahmet Okay Caglayan, Jennifer L. Silhavy, Daphna Weissglas-Volkov, Murat Gunel, Stacey Gabriel, Katsuhito Yasuno, Yaron Einhorn, Gali Heimer, Jana Schroth, Valentina Stanley, Nir Pillar, Steven M. Lewis, Bruria Ben-Zeev, Brett Copeland, Joseph G. Gleeson, Sefer Kumandaş, Jennifer McEvoy-Venneri, Yuval Porat, Anne Gregor, Rasim Ozgur Rosti, Hakan Gümüş, Naiara Akizu, Emine Z. Erson-Omay, Gozde Tugce Akgumus, Maha S. Zaki, Rebecca Fang, Alicia Guemez-Gamboa, Mahmoud Y. Issa, Kaya Bilguvar, Sahar N. Saleem, Damir Musaev

المصدر: Annals of Neurology. 84:638-647

مصطلحات موضوعية: 0301 basic medicine, Progressive microcephaly, Pathology, medicine.medical_specialty, Microcephaly, business.industry, medicine.disease, Corpus callosum, White matter, 03 medical and health sciences, Epilepsy, 030104 developmental biology, 0302 clinical medicine, medicine.anatomical_structure, Neurology, Dysplasia, Medicine, Neurology (clinical), Brainstem, business, Induced pluripotent stem cell, 030217 neurology & neurosurgery

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::dea6cdb8fcece6df153c50145528b15d
https://doi.org/10.1002/ana.25327

المؤلفون: Andreas Gerondopoulos, Sara A. Wirth, Ercan Demir, Tawfeg Ben-Omran, Maha S. Zaki, Joseph G. Gleeson, Susanne Roosing, Isaac Marin-Valencia, Francis A. Barr, Mahmoud Y. Issa, Mariam Almureikhi, Anne Gregor, Bart Appelhof, Damir Musaev, Valentina Stanley, Alicia Guemez-Gamboa, Frank Baas, Basak Rosti

المصدر: American Journal of Human Genetics
American Journal of Human Genetics, 101(3), 441-450
American Journal of Human Genetics, 101, 3, pp. 441-450
American Journal of Human Genetics, 101, 441-450
American journal of human genetics, vol 101, iss 3

مصطلحات موضوعية: Male, 0301 basic medicine, Cerebellum, Microcephaly, Medical and Health Sciences, Sensory disorders Donders Center for Medical Neuroscience [Radboudumc 12], 0302 clinical medicine, microcephaly, Child, Zebrafish, Genetics (clinical), Genetics & Heredity, Genetics, TBC1D23, GTPase-Activating Proteins, Homozygote, Biological Sciences, Pedigree, Phenotype, medicine.anatomical_structure, intellectual disability, Child, Preschool, Female, medicine.symptom, Ataxia, Adolescent, Pontocerebellar hypoplasia, Hindbrain, Biology, 03 medical and health sciences, Clinical Research, Cerebellar Diseases, Report, medicine, Animals, Humans, Preschool, Gene, pontocerebellar hypoplasia, ataxia, Neurosciences, medicine.disease, biology.organism_classification, Pons, 030104 developmental biology, Hela Cells, Mutation, 030217 neurology & neurosurgery, HeLa Cells

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6337d99f2d905d75d9c6e96f98893c11
https://doi.org/10.1016/j.ajhg.2017.07.015

المؤلفون: Alicia Guemez-Gamboa, Jennifer Rakotomamonjy

المصدر: Journal of Visualized Experiments.

مصطلحات موضوعية: Cerebellum, Programmed cell death, General Immunology and Microbiology, Cell Survival, Cerebellar slice, General Chemical Engineering, General Neuroscience, Purkinje cell, Biology, Neuroprotection, General Biochemistry, Genetics and Molecular Biology, Mice, Purkinje Cells, Organ Culture Techniques, medicine.anatomical_structure, Cell culture, In vivo, medicine, Animals, Neuroscience, Organotypic slice

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b253e48b671d522765f709bfcd423bd3
https://doi.org/10.3791/60353

المؤلفون: Niki P Sabetfakhri, Jennifer Rakotomamonjy, Sean L McDermott, Alicia Guemez-Gamboa

المصدر: Epilepsia

مصطلحات موضوعية: 0301 basic medicine, Male, medicine.medical_specialty, Mice, 129 Strain, Clonic seizure, Asymptomatic, Article, 03 medical and health sciences, Epilepsy, Mice, 0302 clinical medicine, Seizures, Internal medicine, medicine, Animals, Genetic Predisposition to Disease, Pentylenetetrazol, Receptor, Psychomotor learning, Mice, Knockout, business.industry, Flurothyl, Electroencephalography, medicine.disease, Cadherins, Protocadherins, Mice, Inbred C57BL, Seizure susceptibility, 030104 developmental biology, Endocrinology, Neurology, Female, Neurology (clinical), medicine.symptom, business, 030217 neurology & neurosurgery, Psychomotor Performance, medicine.drug

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7959d6a097cb44986be162cd37c13939
https://pubmed.ncbi.nlm.nih.gov/32944953

المؤلفون: Alicia Guemez-Gamboa, Tawfeg Ben-Omran, Neil C. Chi, Eric Scott, Maha S. Zaki, Stacey Gabriel, Murat Gunel, Hongbo Yang, Majdi Kara, Rasim Ozgur Rosti, Joseph G. Gleeson, Long N. Nguyen, Jana Schroth, Markus R. Wenk, Basak Rosti, David L. Silver, Keith K. Vaux, Debra Q Y Quek, Amaury Cazenave-Gassiot, Brett Copeland, Bernice H. Wong, Naiara Akizu, Bryan C. Tan

المصدر: Nature Genetics. 47:809-813

مصطلحات موضوعية: Male, Microcephaly, Adolescent, Mutation, Missense, Biology, Blood–brain barrier, medicine.disease_cause, Article, Consanguinity, Fatty Acids, Omega-3, Genetics, medicine, Animals, Humans, Child, Omega 3 fatty acid, Genetic Association Studies, Zebrafish, Mice, Knockout, chemistry.chemical_classification, Mutation, Symporters, Tumor Suppressor Proteins, Brain, Infant, Fatty acid, Biological Transport, Morphant, Syndrome, Human brain, medicine.disease, Major facilitator superfamily, HEK293 Cells, medicine.anatomical_structure, chemistry, Biochemistry, Blood-Brain Barrier, Case-Control Studies, Child, Preschool, Female, Genes, Lethal, lipids (amino acids, peptides, and proteins)

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0f82ca55913cf53465ec03077434c48d
https://doi.org/10.1038/ng.3311

المؤلفون: Jens Lykke-Andersen, Marie-Cécile Nassogne, Nicola Foulds, Susan Blaser, Anne Gregor, Rea M. Lardelli, Stefania Maria Bova, Ashleigh E. Schaffer, Linda Warwick, Masaaki Shiina, Eric Scott, Hülya Kayserili, Murat Gunel, Linda De Meirleir, Ahmet Okay Caglayan, Luigina Spaccini, Kazuhiro Ogata, Ari Widjaja, Naiara Akizu, Naomichi Matsumoto, David Chitayat, Henrik Thybo Christesen, Stephanie Grainger, David K. Manchester, Laura Dean Heckman, Gene W. Yeo, Sebastian Markmiller, Kazuhiro Muramatsu, Rohit Mande, Maha S. Zaki, Zinayida Schlachetzki, Umut Altunoglu, Kimberly A. Aldinger, Maria Kibaek, Joseph G. Gleeson, Justin H Davies, Mary Louise Freckmann, Eric J. Bennett, Jennifer L. Silhavy, Timothy Shaw, Esra Dikoglu, David Traver, Hüseyin Per, Eric L. Van Nostrand, Neil C. Chi, Stacey Gabriel, Enza Maria Valente, Hirotomo Saitsu, Veerle Rc Eggens, Shashank Sathe, Rasim Ozgur Rosti, Christina Fagerberg, Kaya Bilguvar, Alicia Guemez-Gamboa, Frank Baas, Basak Rosti, Damir Musaev, Isaac Marin-Valencia, William B. Dobyns

المساهمون: Reproduction and Genetics, Neurogenetics, Clinical sciences, UCL - SSS/IONS/NEUR - Clinical Neuroscience, UCL - (SLuc) Service de neurologie pédiatrique, Genome Analysis, ARD - Amsterdam Reproduction and Development

المصدر: Nature genetics
Nature Genetics, 49(3), 457-464
Nature Genetics, Vol. 49, no.3, p. 457-464 (2017)
Nature genetics, 49(3), 457-464. Nature Publishing Group
Lardelli, R M, Schaffer, A E, Eggens, V R C, Zaki, M S, Grainger, S, Sathe, S, Van Nostrand, E L, Schlachetzki, Z, Rosti, B, Akizu, N, Scott, E, Silhavy, J L, Heckman, L D, Rosti, R O, Dikoglu, E, Gregor, A, Guemez-Gamboa, A, Musaev, D, Mande, R, Widjaja, A, Shaw, T L, Markmiller, S, Marin-Valencia, I, Davies, J H, De Meirleir, L, Kayserili, H, Altunoglu, U, Freckmann, M L, Warwick, L, Chitayat, D, Blaser, S, Ça Layan, A O, Bilguvar, K, Per, H, Fagerberg, C, Christesen, H B T, Kibæk, M, Aldinger, K A, Manchester, D, Matsumoto, N, Muramatsu, K, Saitsu, H, Shiina, M, Ogata, K, Foulds, N, Dobyns, W B, Chi, N C, Traver, D, Spaccini, L, Bova, S M, Gabriel, S B, Gunel, M, Valente, E M, Nassogne, M C, Bennett, E J, Yeo, G W, Baas, F, Lykke-Andersen, J & Gleeson, J G 2017, ' Biallelic mutations in the 3' exonuclease TOE1 cause pontocerebellar hypoplasia and uncover a role in snRNA processing ', Nature Genetics, vol. 49, no. 3, pp. 457-464 . https://doi.org/10.1038/ng.3762
Nature genetics, vol 49, iss 3

مصطلحات موضوعية: 0301 basic medicine, RNA, Messenger/genetics, Exonucleases, Male, Messenger, Exonucleases/genetics, medicine.disease_cause, Medical and Health Sciences, Mice, RNA, Small Nuclear, Neurodegenerative Diseases/genetics, Nuclear protein, Zebrafish, Genetics, Mutation, Neurodegeneration, Nuclear Proteins, TOE1, Neurodegenerative Diseases, deadenylation, Biological Sciences, CAF1Z, SnRNA processing, Female, Exonuclease, congenital, hereditary, and neonatal diseases and abnormalities, Spliceosome, mice, Mutation/genetics, snRNP, Pontocerebellar hypoplasia, Biology, Article, 03 medical and health sciences, Small Nuclear, snRNA, Cerebellar Diseases, medicine, Journal Article, Animals, Humans, RNA, Messenger, Spliceosomes/genetics, Alleles, Cerebellar Diseases/genetics, urogenital system, medicine.disease, zebrafish, Nuclear Proteins/genetics, 030104 developmental biology, biology.protein, Spliceosomes, RNA, mutation, RNA, Small Nuclear/genetics, Developmental Biology

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::91e93af0a10db11f22ffaa9743a63cb4
https://hdl.handle.net/1887/114885

المؤلفون: Nicholas C. Spitzer, Da Meng, Lin Xu, Alicia Guemez-Gamboa

المصدر: Neuron. 82:1004-1016

مصطلحات موضوعية: Proto-Oncogene Proteins c-jun, Neuroscience(all), Glutamic Acid, Tropomyosin receptor kinase B, Biology, Article, gamma-Aminobutyric acid, Xenopus laevis, chemistry.chemical_compound, Neurotrophic factors, medicine, Animals, Phosphorylation, Neurotransmitter, Receptor, Cells, Cultured, gamma-Aminobutyric Acid, Neurons, Brain-derived neurotrophic factor, Brain-Derived Neurotrophic Factor, General Neuroscience, JNK Mitogen-Activated Protein Kinases, Glutamate receptor, Spinal Cord, nervous system, chemistry, Calcium, Female, Signal transduction, Neuroscience, Signal Transduction, medicine.drug

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6edd3720e20847f45e171e0709875e54
https://doi.org/10.1016/j.neuron.2014.04.029

المؤلفون: Nicole G. Coufal, Alicia Guemez-Gamboa, Joseph G. Gleeson

المصدر: Neuron. 82:511-521

مصطلحات موضوعية: Brain Diseases, Neuroscience(all), General Neuroscience, Cellular polarity, Cilium, Brain, Cell Polarity, Cell movement, Cell fate determination, Biology, Article, Cell biology, Cell Movement, Cell polarity, Motile cilium, Animals, Humans, Cilia, Signal transduction, Function (biology), Signal Transduction

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e79e08bd939a41c516aefb500299df31
https://doi.org/10.1016/j.neuron.2014.04.024

المؤلفون: Joseph G. Gleeson, Shuibing Chen, Valentina Stanley, Henrik Molina, Sergey A. Shiryaev, Laura Saucedo-Cuevas, Alexey V. Terskikh, Zhiheng Xu, Anide Johansen, Alicia Guemez-Gamboa, Ling Yuan, Amy S. Gladfelter, Todd Evans, Danica Ross, Sujan Shresta, Lei Tan, Nicholas Sheets, Daniel Sands, Anne Gregor, Hongda Li

المساهمون: Pathology/molecular and cellular medicine

المصدر: Neuron, vol 101, iss 6

مصطلحات موضوعية: 0301 basic medicine, activated caspase, viruses, Neurogenesis, medicine.medical_treatment, Cell, Mitosis, Apoptosis, cytokinesis, Viral Nonstructural Proteins, Biology, Septin, Cleavage (embryo), 03 medical and health sciences, Zika, 0302 clinical medicine, Neural Stem Cells, medicine, Humans, Psychology, microcephaly, septin, Cytoskeleton, Cytokinesis, Neurology & Neurosurgery, Protease, Cell growth, General Neuroscience, Serine Endopeptidases, Neurosciences, protease, Zika Virus, Stem Cell Research, Cell biology, HEK293 Cells, Infectious Diseases, Good Health and Well Being, 030104 developmental biology, medicine.anatomical_structure, Hela Cells, Cognitive Sciences, RNA Helicases, Septins, 030217 neurology & neurosurgery, HeLa Cells

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7966a9cc9fc558313185ee22046d034d
https://doi.org/10.1016/j.neuron.2019.01.010

المؤلفون: Teresa Montiel, Alicia Guemez-Gamboa, Blanca Páramo, Ana María Estrada-Sánchez, Julio Morán, Lourdes Massieu

المصدر: Journal of Neuropathology & Experimental Neurology. 70:1020-1035

مصطلحات موضوعية: Time Factors, Excitotoxicity, Glutamic Acid, Receptors, Ionotropic Glutamate, Receptors, Metabotropic Glutamate, medicine.disease_cause, Pathology and Forensic Medicine, Mice, Cellular and Molecular Neuroscience, medicine, Animals, Drug Interactions, Excitatory Amino Acid Agents, Organic Chemicals, Receptors, Immunologic, Mice, Knockout, Neurons, Membrane Glycoproteins, Calpain, Metabotropic glutamate receptor 5, Chemistry, Calcium-Binding Proteins, Microfilament Proteins, Metabotropic glutamate receptor 6, Glutamate receptor, NADPH Oxidases, General Medicine, Fluoresceins, Corpus Striatum, Cell biology, Mice, Inbred C57BL, Disease Models, Animal, Metabotropic receptor, Gene Expression Regulation, nervous system, Neurology, Biochemistry, Metabotropic glutamate receptor, Phosphopyruvate Hydratase, NADPH Oxidase 2, cardiovascular system, NMDA receptor, Metabotropic glutamate receptor 1, Neurotoxicity Syndromes, Microglia, Neurology (clinical), Reactive Oxygen Species

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e222b88bd4e526d3f8b021ae0bc6f0f1
https://doi.org/10.1097/nen.0b013e3182358e4e