المؤلفون: Cheng Xiaofei, Yang Qian, Nie Yirou, Zhang Mengmeng, Xie Yi, Li Mingli

المصدر: Sichuan jingshen weisheng, Vol 37, Iss 5, Pp 396-402 (2024)

مصطلحات موضوعية: bipolar disorder, cacna1g, single nucleotide polymorphism, gray matter volume, allele, Psychology, BF1-990, Psychiatry, RC435-571

وصف الملف: electronic resource

Relation: http://www.psychjm.net.cn/scjswszzen/ch/reader/view_abstract.aspx?file_no=202405002&flag=1; https://doaj.org/toc/1007-3256

URL الوصول: https://doaj.org/article/fabeaed0323a471f855d2f82de1c1608

المؤلفون: De Riggi, Martina, De Giorgi, Agnese, Pollini, Luca, Angelini, Luca, Paparella, Giulia, Cannavacciuolo, Antonio, Birreci, Daniele, Costa, Davide, Tessa, Alessandra, Natale, Gemma, Fiorelli, Marco, Galatolo, Daniele, Santorelli, Filippo Maria, Galosi, Serena, Bologna, Matteo

المساهمون: De Riggi, Martina, De Giorgi, Agnese, Pollini, Luca, Angelini, Luca, Paparella, Giulia, Cannavacciuolo, Antonio, Birreci, Daniele, Costa, Davide, Tessa, Alessandra, Natale, Gemma, Fiorelli, Marco, Galatolo, Daniele, Santorelli, Filippo Maria, Galosi, Serena, Bologna, Matteo

مصطلحات موضوعية: CACNA1G, Ataxia, Genetic, Intellectual disability, Myoclonus

Relation: info:eu-repo/semantics/altIdentifier/pmid/39287920; info:eu-repo/semantics/altIdentifier/wos/WOS:001314854000001; journal:THE CEREBELLUM; https://hdl.handle.net/11573/1721004

الاتاحة: https://hdl.handle.net/11573/1721004
https://doi.org/10.1007/s12311-024-01734-6

المؤلفون: José Gazulla, Silvia Izquierdo-Alvarez, Emilio Ruiz-Fernández, Alba Lázaro-Romero, José Berciano

المصدر: Case Reports in Neurology, Vol 13, Iss 2, Pp 347-354 (2021)

مصطلحات موضوعية: vestibular hypofunction, cacna1g, episodic ataxia type 10, autosomal dominant, carbamazepine, episodic vestibulocerebellar ataxia type 10, episodic ataxia, Neurology. Diseases of the nervous system, RC346-429

وصف الملف: electronic resource

Relation: https://www.karger.com/Article/FullText/515974; https://doaj.org/toc/1662-680X

URL الوصول: https://doaj.org/article/328eb3229eeb4e5ba26f3f73a8e986ef

المؤلفون: Naoyuki Hara, Hiroyuki Morino, Yukiko Matsuda, Kenichi Satoh, Kouichi Hashimoto, Hirofumi Maruyama, Hideshi Kawakami

المصدر: Molecular Brain, Vol 13, Iss 1, Pp 1-7 (2020)

مصطلحات موضوعية: Spinocerebellar ataxia, SCA42, CACNA1G, T-type calcium channel, CaV3.1, Tremor, Neurology. Diseases of the nervous system, RC346-429

وصف الملف: electronic resource

Relation: http://link.springer.com/article/10.1186/s13041-020-00700-7; https://doaj.org/toc/1756-6606

URL الوصول: https://doaj.org/article/e8ef198876784ec3b67003af4f4fe37a

المؤلفون: Han Zhang, Anwen Liang, Xinghua Pan

المصدر: Toxins; Volume 14; Issue 2; Pages: 99

مصطلحات موضوعية: Conus, conotoxin, pethidine, α1G, CACNA1G, T-type calcium channel

جغرافية الموضوع: agris

وصف الملف: application/pdf

Relation: Animal Venoms; https://dx.doi.org/10.3390/toxins14020099

الاتاحة: https://doi.org/10.3390/toxins14020099

المؤلفون: Qebibo, Leila, Davakan, Amaël, Nesson-Dauphin, Mathilde, Boulali, Najlae, Siquier-Pernet, Karine, Afenjar, Alexandra, Amiel, Jeanne, Bartholdi, Deborah, Barth, Magalie, Blondiaux, Eléonore, Cristian, Ingrid, Frazier, Zoe, Goldenberg, Alice, Good, Jean-Marc, Salussolia, Catherine Lourdes, Sahin, Mustafa, Mccullagh, Helen, Mcdonald, Kimberly, Mcrae, Anne, Morrison, Jennifer, Pinner, Jason, Shinawi, Marwan, Toutain, Annick, Vyhnálková, Emílie, Wheeler, Patricia, Wilnai, Yael, Hausman-Kedem, Moran, Coolen, Marion, Cantagrel, Vincent, Burglen, Lydie, Lory, Philippe

المساهمون: Imagine - Institut des maladies génétiques (IHU) (Imagine - U1163), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Paris Cité (UPCité), CHU Trousseau APHP, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Institut de Génomique Fonctionnelle (IGF), Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)-Université de Montpellier (UM), LabEx Ion Channels Science and Therapeutics France, Hôpital Necker - Enfants Malades AP-HP, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Bern University Hospital Berne (Inselspital), Centre Hospitalier Universitaire d'Angers (CHU Angers), PRES Université Nantes Angers Le Mans (UNAM), Arnold Palmer Hospital, Boston Children's Hospital, Harvard Medical School Boston (HMS), CHU Rouen, Normandie Université (NU), Cancer and Brain Genomics (CBG), Université de Rouen Normandie (UNIROUEN), Normandie Université (NU)-Normandie Université (NU)-Institute for Research and Innovation in Biomedicine (IRIB), Normandie Université (NU)-Normandie Université (NU)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)-Université de Rouen Normandie (UNIROUEN), Normandie Université (NU)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)-Institut National de la Santé et de la Recherche Médicale (INSERM), Centre Hospitalier Universitaire Vaudois = Lausanne University Hospital Lausanne (CHUV), Université de Lausanne = University of Lausanne (UNIL), Leeds Teaching Hospitals NHS Trust, University of Louisville, Ann & Robert H. Lurie Children's Hospital of Chicago, Sydney Children's hospital, University of New South Wales Sydney (UNSW), Washington University School of Medicine Saint Louis, MO, Centre Hospitalier Régional Universitaire de Tours (CHRU Tours), University Hospital Motol Prague, Univerzita Karlova Praha, Česká republika = Charles University Prague, Czech Republic (UK), Tel Aviv Sourasky Medical Center Tel Aviv, Tel Aviv University (TAU), Association "Connaître les syndrômes cérébelleux", ANR-11-LABX-0015,ICST,Canaux ioniques d'intérêt thérapeutique(2011)

المصدر: ISSN: 1098-3600.

مصطلحات موضوعية: CACNA1G gene, Spinocerebellar ataxia, T-type voltage-gated calcium channel, cerebellum, neurodevelopment, [SDV.GEN.GH]Life Sciences [q-bio]/Genetics/Human genetics, [SCCO.NEUR]Cognitive science/Neuroscience

Relation: info:eu-repo/semantics/altIdentifier/pmid/39674904; PUBMED: 39674904

الاتاحة: https://hal.science/hal-04846047
https://hal.science/hal-04846047v1/document
https://hal.science/hal-04846047v1/file/Qebibo%20et%20al%202024.pdf
https://doi.org/10.1016/j.gim.2024.101337

المؤلفون: Riquet, Audrey, Cleuziou, Pierre, Floret, Valentine, Quesque, François, Defoort, Sabine, Smol, Thomas

المساهمون: Université de Lille, CHU Lille, Maladies RAres du DEveloppement embryonnaire et du MEtabolisme : du Phénotype au Génotype et à la Fonction - ULR 7364 RADEME, Centre Hospitalier Régional Universitaire CHU Lille CHRU Lille, Maladies Rares du Développement : Génétique, Régulation et Protéomique (RADEME) - ULR 7364

مصطلحات موضوعية: Paroxysmal tonic upgaze, Congenital ataxia, Periodic neurological manifestations, CACNA1G

وصف الملف: application/octet-stream

Relation: Pediatric Neurology; Pediatr Neurol; http://hdl.handle.net/20.500.12210/114502

الاتاحة: https://hdl.handle.net/20.500.12210/114502

المؤلفون: Casas Alba, Dídac, López-Sala, Laura, Pérez-Ordóñez, Marta, Mari-Vico, Rosanna, Bolasell, Mercè, Martínez Monseny, Antonio Federico, Muchart, Jordi, Fernández-Fernández, José Manuel, 1967-, Martorell, Loreto, Serrano, Mercedes L.

مصطلحات موضوعية: CACNA1G, T-type calcium channel blockers, Broad hallux, Early-onset severe spinocerebellar ataxia 42 with neurodevelopmental deficits (SCA42ND), Zonisamide

وصف الملف: application/pdf

Relation: Am J Med Genet A. 2021;185(1):256-60; info:eu-repo/grantAgreement/ES/2PE/RTI2018-094809-B-I00; info:eu-repo/grantAgreement/ES/2PE/CEX2018-000792-M; http://hdl.handle.net/10230/52378; http://dx.doi.org/10.1002/ajmg.a.61939

الاتاحة: http://hdl.handle.net/10230/52378
https://doi.org/10.1002/ajmg.a.61939

المؤلفون: Jonas Tjaden, Annika Eickhoff, Sarah Stahlke, Julian Gehmeyr, Matthias Vorgerd, Verena Theis, Veronika Matschke, Carsten Theiss

المصدر: Cells, Vol 10, Iss 2277, p 2277 (2021)

مصطلحات موضوعية: Purkinje cell, VEGF, Kdr, T-type Ca 2+ channels, Cacna1g, Cacna1h, Cytology, QH573-671

Relation: https://www.mdpi.com/2073-4409/10/9/2277; https://doaj.org/toc/2073-4409; https://doaj.org/article/330dbd9ce6fa45cdaf0f83df23d1baa3

الاتاحة: https://doi.org/10.3390/cells10092277
https://doaj.org/article/330dbd9ce6fa45cdaf0f83df23d1baa3

المؤلفون: Strom, SP, Stone, JL, ten Bosch, JR, Merriman, B, Cantor, RM, Geschwind, DH, Nelson, SF

المصدر: Molecular Psychiatry. 15(10)

مصطلحات موضوعية: Human Genome, Genetics, Pediatric, Biotechnology, Genetic Testing, Brain Disorders, Mental Health, Autism, Prevention, Behavioral and Social Science, Clinical Research, Intellectual and Developmental Disabilities (IDD), 2.1 Biological and endogenous factors, Aetiology, Mental health, Autistic Disorder, Calcium Channels, T-Type, Child, Chromosomes, Human, Pair 17, Female, Follow-Up Studies, Gene Dosage, Genetic Markers, Genetic Predisposition to Disease, Haplotypes, Humans, Linkage Disequilibrium, Lod Score, Male, Polymorphism, Single Nucleotide, Risk Factors, autism, Autism Spectrum Disorder, association, chromosome 17q, CACNA1G, Biological Sciences, Medical and Health Sciences, Psychology and Cognitive Sciences, Psychiatry

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/16t6637t

المؤلفون: Naoyuki Hara (9698056), Hiroyuki Morino (9698059), Yukiko Matsuda (2974854), Kenichi Satoh (9698062), Kouichi Hashimoto (2976750), Hirofumi Maruyama (490926), Hideshi Kawakami (206777)

مصطلحات موضوعية: Genetics, Molecular Biology, Neuroscience, Physiology, Cancer, Science Policy, Chemical Sciences not elsewhere classified, Spinocerebellar ataxia, SCA42, CACNA1G, T-type calcium channel, CaV3.1, Tremor, Zonisamide

Relation: https://figshare.com/articles/journal_contribution/Additional_file_of_Zonisamide_can_ameliorate_the_voltage-dependence_alteration_of_the_T-type_calcium_channel_CaV3_1_caused_by_a_mutation_responsible_for_spinocerebellar_ataxia/14433131

الاتاحة: https://doi.org/10.6084/m9.figshare.14433131.v1

المؤلفون: Géza Berecki, Katherine L. Helbig, Tyson L. Ware, Bronwyn Grinton, Cara M. Skraban, Eric D. Marsh, Samuel F. Berkovic, Steven Petrou

المصدر: International Journal of Molecular Sciences; Volume 21; Issue 17; Pages: 6333

مصطلحات موضوعية: CACNA1G mutation, voltage-dependent T-type calcium channel, developmental and epileptic encephalopathy, deep cerebellar nuclei, gain of function, loss of function

جغرافية الموضوع: agris

وصف الملف: application/pdf

Relation: Molecular Pathology, Diagnostics, and Therapeutics; https://dx.doi.org/10.3390/ijms21176333

الاتاحة: https://doi.org/10.3390/ijms21176333

المؤلفون: Shunta Hashiguchi, Hiroshi Doi, Misako Kunii, Yukihiro Nakamura, Misa Shimuta, Etsuko Suzuki, Shigeru Koyano, Masaki Okubo, Hitaru Kishida, Masaaki Shiina, Kazuhiro Ogata, Fumiko Hirashima, Yukichi Inoue, Shun Kubota, Noriko Hayashi, Haruko Nakamura, Keita Takahashi, Atsuko Katsumoto, Mikiko Tada, Kenichi Tanaka, Toshikuni Sasaoka, Satoko Miyatake, Noriko Miyake, Hirotomo Saitsu, Nozomu Sato, Kokoro Ozaki, Kiyobumi Ohta, Takanori Yokota, Hidehiro Mizusawa, Jun Mitsui, Hiroyuki Ishiura, Jun Yoshimura, Shinichi Morishita, Shoji Tsuji, Hideyuki Takeuchi, Kinya Ishikawa, Naomichi Matsumoto, Taro Ishikawa, Fumiaki Tanaka

المصدر: Neurobiology of Disease, Vol 130, Iss , Pp 104516- (2019)

مصطلحات موضوعية: Cerebellum, Spinocerebellar ataxia 42, CACNA1G, Knock-in mouse, Purkinje cell, Inferior olivary nucleus, Neurosciences. Biological psychiatry. Neuropsychiatry, RC321-571

وصف الملف: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S0969996119301755; https://doaj.org/toc/1095-953X

URL الوصول: https://doaj.org/article/159b1298c64f481c88470219971663c5

المؤلفون: Ingeborg B. Hooijkaas, Gerard J.J. Boink, Phil Barnett, Vincent Wakker, Jan Hendrik van Weerd, Mathilda T.M. Mommersteeg, Karel van Duijvenboden, Rajiv A Mohan, Jeroen Bakkers, Jianan Wang, Fernanda M Bosada, Bas J. Boukens, Ruben Coronel, Corrie de Gier-de Vries, Vincent M. Christoffels

المساهمون: Hubrecht Institute for Developmental Biology and Stem Cell Research, Cardiology, Medical Biology, ACS - Heart failure & arrhythmias, ACS - Amsterdam Cardiovascular Sciences, AR&D - Amsterdam Reproduction & Development, ACS - Pulmonary hypertension & thrombosis

المصدر: Proceedings of the National Academy of Sciences
Proceedings of the National Academy of Sciences of the United States of America, 117(31), 18617-18626. National Academy of Sciences
Proc Natl Acad Sci U S A

مصطلحات موضوعية: Mutation/genetics, Cacna1g, Electrical patterning, Mice, Transgenic, Ryr2, Arrhythmias, 030204 cardiovascular system & hematology, Biology, Ryanodine receptor 2, Transgenic, T-Type/genetics, Calcium Channels, T-Type/genetics, T-Box Domain Proteins/genetics, Atrioventricular conduction system, Calcium Channels, T-Type, Mice, 03 medical and health sciences, 0302 clinical medicine, medicine, Animals, Atrioventricular Node/metabolism, Epigenetics, PR interval, Ryanodine Receptor Calcium Release Channel/genetics, Gene, 030304 developmental biology, Laser capture microdissection, 0303 health sciences, Multidisciplinary, Ryanodine Receptor Calcium Release Channel, Arrhythmias, Cardiac, Biological Sciences, Transcriptome/genetics, Tbx3, Atrioventricular node, Cell biology, Chromatin, medicine.anatomical_structure, Mutation, Atrioventricular Node, cardiovascular system, Calcium Channels, Electrical conduction system of the heart, T-Box Domain Proteins, Transcriptome, Cardiac

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e8663cd23b81fb29e373e075da220d7c
https://doi.org/10.1073/pnas.1919379117

المؤلفون: Riquet, Audrey, Cleuziou, Pierre, Floret, Valentine, Quesque, François, Defoort, Sabine, Smol, Thomas

المساهمون: Maladies RAres du DEveloppement embryonnaire et du MEtabolisme : du Phénotype au Génotype et à la Fonction - ULR 7364 (RADEME), Université de Lille-Centre Hospitalier Régional Universitaire CHU Lille (CHRU Lille), Centre Hospitalier Régional Universitaire CHU Lille (CHRU Lille)

المصدر: ISSN: 0887-8994 ; Pediatric Neurology ; https://hal.univ-lille.fr/hal-04617116 ; Pediatric Neurology, 2022, Pediatric Neurology, 139, pp.22-23. ⟨10.1016/j.pediatrneurol.2022.11.003⟩.

مصطلحات موضوعية: Paroxysmal tonic upgaze, Congenital ataxia, Periodic neurological manifestations, CACNA1G, [SDV]Life Sciences [q-bio]

Relation: info:eu-repo/semantics/altIdentifier/pmid/36508879; PUBMED: 36508879

الاتاحة: https://hal.univ-lille.fr/hal-04617116
https://doi.org/10.1016/j.pediatrneurol.2022.11.003

المؤلفون: Amadori E., Pellino G., Bansal L., Mazzone S., Moller R. S., Rubboli G., Striano P., Russo A.

المساهمون: Amadori, E., Pellino, G., Bansal, L., Mazzone, S., Moller, R. S., Rubboli, G., Striano, P., Russo, A.

مصطلحات موضوعية: CACNA1G, Epilepsy, Episodic ataxia, Episodic vestibulocerebellar ataxia

وصف الملف: ELETTRONICO

Relation: info:eu-repo/semantics/altIdentifier/wos/WOS:000912962000002; volume:65; firstpage:1; lastpage:2; numberofpages:2; journal:EUROPEAN JOURNAL OF MEDICAL GENETICS; https://hdl.handle.net/11567/1141998; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85139819896

الاتاحة: https://hdl.handle.net/11567/1141998
https://doi.org/10.1016/j.ejmg.2022.104634

المؤلفون: Tjaden, Jonas, Eickhoff, Annika, Stahlke, Sarah, Gehmeyr, Julian, Vorgerd, Matthias, Theis, Verena, Matschke, Veronika, Theiss, Carsten

المصدر: Cells, Vol 10, Iss 2277, p 2277 (2021)
Cells
Volume 10
Issue 9

مصطلحات موضوعية: QH301-705.5, Cacna1i, Purkinje cell, T-type Ca2+ channels, Cacna1g, Cacna1h, Biology (General), VEGF, Kdr

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::29ed8476d217c598552b0173ca08fe37
https://hss-opus.ub.ruhr-uni-bochum.de/opus4/frontdoor/index/index/docId/8589

المؤلفون: Kazunori Nakayama, Masafumi Nakamura, Masayuki Kojima, Katsuya Nakamura, Kei Miyoshi, Shu Ichimiya, Hideya Onishi, Kenichi Nishiyama, Shogo Masuda, Akira Imaizumi, Satoko Koga, Akiko Fujimura, Masayo Umebayashi, Takashi Morisaki

المصدر: Translational Oncology, Vol 14, Iss 9, Pp 101152-(2021)
Translational Oncology

مصطلحات موضوعية: 0301 basic medicine, Cancer Research, medicine.medical_treatment, T cell, PTPN3, protein tyrosine phosphatase non-receptor type3, 03 medical and health sciences, 0302 clinical medicine, Cancer immunotherapy, ERK, extracellular signal-regulated kinase, EMT, Epithelial-mesenchymal transition, medicine, EGFR, Epidermal growth factor receptor, ZAP70, zeta-chain-associated protein kinase 70, VEGFA, Vascular endothelial growth factor A, Autocrine signalling, Lung net, Cancer immunotherapy strategy, Lymphocyte activation, RC254-282, Original Research, CACNA1G, Calcium Voltage-Gated Channel Subunit Alpha1 G, Large-cell neuroendocrine cancer, Chemistry, Cancer, FOXP3, Neoplasms. Tumors. Oncology. Including cancer and carcinogens, CDDP, Cis-diamminedichloro-platinum, medicine.disease, AKT, protein kinase b, LCK, lymphocyte-specific protein tyrosine kinase, 030104 developmental biology, medicine.anatomical_structure, Oncology, GAPDH, glyceraldehyde-3-phosphate dehydrogenase, PTPN3, 030220 oncology & carcinogenesis, Cancer cell, Cancer research, Cancer suppression, Tyrosine kinase, PTP, protein tyrosine phosphatase

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d0e3318336b6ef33ea2f822b09e18c02
http://www.sciencedirect.com/science/article/pii/S1936523321001443

المؤلفون: Hiroyuki Morino, 森野 豊之

المصدر: 神経治療学 / Neurological Therapeutics. 2018, 35(3):332

المؤلفون: Géza Berecki, Cara M. Skraban, Samuel F. Berkovic, Bronwyn E. Grinton, Katherine L. Helbig, Tyson L Ware, Eric D. Marsh, Steven Petrou

المصدر: International Journal of Molecular Sciences
Volume 21
Issue 17
International Journal of Molecular Sciences, Vol 21, Iss 6333, p 6333 (2020)

مصطلحات موضوعية: Male, medicine.medical_specialty, Cerebellum, gain of function, Developmental Disabilities, Mutation, Missense, CACNA1G mutation, Deep cerebellar nuclei, medicine.disease_cause, Article, Catalysis, lcsh:Chemistry, Inorganic Chemistry, Calcium Channels, T-Type, Internal medicine, medicine, Missense mutation, Humans, Physical and Theoretical Chemistry, developmental and epileptic encephalopathy, lcsh:QH301-705.5, Molecular Biology, Spectroscopy, Mutation, Cerebellar ataxia, Calcium channel, voltage-dependent T-type calcium channel, deep cerebellar nuclei, Organic Chemistry, General Medicine, Phenotype, Computer Science Applications, Endocrinology, medicine.anatomical_structure, lcsh:Biology (General), lcsh:QD1-999, loss of function, Cerebellar atrophy, Female, medicine.symptom, Spasms, Infantile

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c1ef566c60aa6c8c54f8c7239292cc42
https://pubmed.ncbi.nlm.nih.gov/32878331