المؤلفون: Sukhleen Kour, Deepa S. Rajan, Tyler R. Fortuna, Eric N. Anderson, Caroline Ward, Youngha Lee, Sangmoon Lee, Yong Beom Shin, Jong-Hee Chae, Murim Choi, Karine Siquier, Vincent Cantagrel, Jeanne Amiel, Elliot S. Stolerman, Sarah S. Barnett, Margot A. Cousin, Diana Castro, Kimberly McDonald, Brian Kirmse, Andrea H. Nemeth, Dhivyaa Rajasundaram, A. Micheil Innes, Danielle Lynch, Patrick Frosk, Abigail Collins, Melissa Gibbons, Michele Yang, Isabelle Desguerre, Nathalie Boddaert, Cyril Gitiaux, Siri Lynne Rydning, Kaja K. Selmer, Roser Urreizti, Alberto Garcia-Oguiza, Andrés Nascimento Osorio, Edgard Verdura, Aurora Pujol, Hannah R. McCurry, John E. Landers, Sameer Agnihotri, E. Corina Andriescu, Shade B. Moody, Chanika Phornphutkul, Maria J. Guillen Sacoto, Amber Begtrup, Henry Houlden, Janbernd Kirschner, David Schorling, Sabine Rudnik-Schöneborn, Tim M. Strom, Steffen Leiz, Kali Juliette, Randal Richardson, Ying Yang, Yuehua Zhang, Minghui Wang, Jia Wang, Xiaodong Wang, Konrad Platzer, Sandra Donkervoort, Carsten G. Bönnemann, Matias Wagner, Mahmoud Y. Issa, Hasnaa M. Elbendary, Valentina Stanley, Reza Maroofian, Joseph G. Gleeson, Maha S. Zaki, Jan Senderek, Udai Bhan Pandey

المصدر: Nature Communications, Vol 12, Iss 1, Pp 1-15 (2021)

مصطلحات موضوعية: Science

وصف الملف: electronic resource

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

URL الوصول: https://doaj.org/article/89c11aed01764fe28b3d252a2c5bccf7

المؤلفون: Deepa S. Rajan, Sukhleen Kour, Tyler R. Fortuna, Margot A. Cousin, Sarah S. Barnett, Zhiyv Niu, Dusica Babovic-Vuksanovic, Eric W. Klee, Brian Kirmse, Micheil Innes, Siri Lynne Rydning, Kaja K. Selmer, Magnus Dehli Vigeland, Anne Kjersti Erichsen, Andrea H. Nemeth, Francisca Millan, Catherine DeVile, Katherine Fawcett, Adrien Legendre, David Sims, Ricardo Parolin Schnekenberg, Lydie Burglen, Sandra Mercier, Somayeh Bakhtiari, Rosario Francisco-Velilla, Azman Embarc-Buh, Encarnacion Martinez-Salas, Kristen Wigby, Jerica Lenberg, Jennifer R. Friedman, Michael C. Kruer, Udai Bhan Pandey

المصدر: Frontiers in Cell and Developmental Biology, Vol 10 (2022)

مصطلحات موضوعية: Gemin5, ataxia, cerebellar atrophy, developmental delay, neurodegeneration, cell death, Biology (General), QH301-705.5

وصف الملف: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fcell.2022.783762/full; https://doaj.org/toc/2296-634X

URL الوصول: https://doaj.org/article/5d4040678c7b47c1897c45d67b96d069

المؤلفون: Konark Mukherjee, Paras A. Patel, Deepa S. Rajan, Leslie E. W. LaConte, Sarika Srivastava

المصدر: Molecular Genetics & Genomic Medicine, Vol 8, Iss 10, Pp n/a-n/a (2020)

مصطلحات موضوعية: CASK, cerebellar hypoplasia, electroencephalogram, epileptic encephalopathy, microcephaly, Genetics, QH426-470

وصف الملف: electronic resource

Relation: https://doaj.org/toc/2324-9269

URL الوصول: https://doaj.org/article/0ae629046c964cf9aebb44ab78bff915

المؤلفون: Rosario Francisco-Velilla, Azman Embarc-Buh, Francisco del Caño-Ochoa, Salvador Abellan, Marçal Vilar, Sara Alvarez, Alberto Fernandez-Jaen, Sukhleen Kour, Deepa S Rajan, Udai Bhan Pandey, Santiago Ramón-Maiques, Encarnacion Martinez-Salas

المساهمون: Ministerio de Ciencia e Innovación (España), European Commission, Comunidad de Madrid, Fundación Ramón Areces, Ramón-Maiques, Santiago, del Caño-Ochoa, Francisco, Ramón-Maiques, Santiago [0000-0001-9674-8088], del Caño-Ochoa, Francisco [0000-0003-3093-3103], UAM. Departamento de Biología Molecular

المصدر: Digital.CSIC. Repositorio Institucional del CSIC
instname
Biblos-e Archivo. Repositorio Institucional de la UAM

مصطلحات موضوعية: Ecology, Health, Toxicology and Mutagenesis, RNA-Binding Proteins, SMN Complex Proteins, Plant Science, Gemin5, Biología y Biomedicina / Biología, Biochemistry, Genetics and Molecular Biology (miscellaneous), Humans, RNA, RNA-binding proteins (RBPs), Nervous System Diseases, Survival of motor neurons (SMN), Ribosomes, Neurological disorders

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e3625a1c0d1a034d5364b3388ce739d2
http://hdl.handle.net/10261/274643

المؤلفون: Devesh Malik, Dennis W. Simon, Kavita Thakkar, Deepa S. Rajan, Kate F. Kernan

المصدر: Genes and immunity. 23(7)

مصطلحات موضوعية: Heterozygote, Polymorphism, Genetic, Immunology, Mutation, Genetics, Humans, Encephalitis, Genetic Variation, Child, Genetics (clinical), Lymphohistiocytosis, Hemophagocytic

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::193957b2cc3d5f6a786f1c26acd34a99
https://pubmed.ncbi.nlm.nih.gov/36198812

المؤلفون: Aram Kim, Deepa S. Rajan

المصدر: Symptom-Based Approach to Pediatric Neurology ISBN: 9783031104930

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::7f6f66755ba9da2540390ce6dc65429a
https://doi.org/10.1007/978-3-031-10494-7_4

المؤلفون: Swati A. Karmarkar, Deepa S. Rajan

المصدر: Symptom-Based Approach to Pediatric Neurology ISBN: 9783031104930

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::45711cbf188c0dfd130d5ade99a7092c
https://doi.org/10.1007/978-3-031-10494-7_26

المؤلفون: Deepa S, Rajan, Maria L, Escolar

المصدر: Metabolic brain disease. 37(7)

مصطلحات موضوعية: Lysosomal Storage Diseases, Mutation, Humans, Genetic Therapy, Lysosomes

URL الوصول: https://explore.openaire.eu/search/publication?articleId=pmid________::47857c25f96656af43d059e50a5d2d2c
https://pubmed.ncbi.nlm.nih.gov/35442005

المؤلفون: Deepa S. Rajan, Sukhleen Kour, Tyler R. Fortuna, Margot A. Cousin, Sarah S. Barnett, Zhiyv Niu, Dusica Babovic-Vuksanovic, Eric W. Klee, Brian Kirmse, Micheil Innes, Siri Lynne Rydning, Kaja K. Selmer, Magnus Dehli Vigeland, Anne Kjersti Erichsen, Andrea H. Nemeth, Francisca Millan, Catherine DeVile, Katherine Fawcett, Adrien Legendre, David Sims, Ricardo Parolin Schnekenberg, Lydie Burglen, Sandra Mercier, Somayeh Bakhtiari, Encarnacion Martinez-Salas, Kristen Wigby, Jerica Lenberg, Jennifer R. Friedman, Michael C. Kruer, Udai Bhan Pandey

مصطلحات موضوعية: Cell Biology, Marine Biology, Cell Development, Proliferation and Death, Cell Metabolism, Cell Neurochemistry, Cellular Interactions (incl. Adhesion, Matrix, Cell Wall), Gemin5, ataxia, cerebellar atrophy, developmental delay, neurodegeneration, cell death, development

Relation: https://figshare.com/articles/figure/Image1_Autosomal_Recessive_Cerebellar_Atrophy_and_Spastic_Ataxia_in_Patients_With_Pathogenic_Biallelic_Variants_in_GEMIN5_PNG/19246311

الاتاحة: https://doi.org/10.3389/fcell.2022.783762.s001
https://figshare.com/articles/figure/Image1_Autosomal_Recessive_Cerebellar_Atrophy_and_Spastic_Ataxia_in_Patients_With_Pathogenic_Biallelic_Variants_in_GEMIN5_PNG/19246311

المؤلفون: Deepa S, Rajan, Sukhleen, Kour, Tyler R, Fortuna, Margot A, Cousin, Sarah S, Barnett, Zhiyv, Niu, Dusica, Babovic-Vuksanovic, Eric W, Klee, Brian, Kirmse, Micheil, Innes, Siri Lynne, Rydning, Kaja K, Selmer, Magnus Dehli, Vigeland, Anne Kjersti, Erichsen, Andrea H, Nemeth, Francisca, Millan, Catherine, DeVile, Katherine, Fawcett, Adrien, Legendre, David, Sims, Ricardo Parolin, Schnekenberg, Lydie, Burglen, Sandra, Mercier, Somayeh, Bakhtiari, Rosario, Francisco-Velilla, Azman, Embarc-Buh, Encarnacion, Martinez-Salas, Kristen, Wigby, Jerica, Lenberg, Jennifer R, Friedman, Michael C, Kruer, Udai Bhan, Pandey

المصدر: Frontiers in cell and developmental biology. 10

URL الوصول: https://explore.openaire.eu/search/publication?articleId=pmid________::5174e5128f2b13628791665353705fe7
https://pubmed.ncbi.nlm.nih.gov/35295849

المؤلفون: Michael E. Msall, Garey Noritz, Mary E. Gannotti, Frances E. Jensen, Linda E. Krach, Deepa S. Rajan, Michael C. Kruer, Bhooma R. Aravamuthan, Edward A. Hurvitz, Sarah E. Smith

المصدر: Annals of neurologyReferences. 89(5)

مصطلحات موضوعية: 0301 basic medicine, Adult, medicine.medical_specialty, Referral, Cerebral palsy, 03 medical and health sciences, Myelopathy, 0302 clinical medicine, Physical medicine and rehabilitation, medicine, Humans, Child, Stroke, business.industry, Cerebral Palsy, Chronic pain, Chronic fatigue, medicine.disease, 030104 developmental biology, Clinical research, Systematic review, Neurology, Neurology (clinical), Patient Care, Nervous System Diseases, business, 030217 neurology & neurosurgery

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::52f475c9ab5d98d5a2883c432a30f42d
https://pubmed.ncbi.nlm.nih.gov/33650158

المؤلفون: Giulio Zuccoli, Abdullah S Khan, Dana D Cummings, Raffaele Nardone, Deepa S. Rajan

المصدر: The Neurologist. 23:122-127

مصطلحات موضوعية: Pediatrics, medicine.medical_specialty, Subarachnoid hemorrhage, Blood transfusion, Adolescent, Anemia, medicine.medical_treatment, Anemia, Sickle Cell, Disease, 03 medical and health sciences, 0302 clinical medicine, medicine, Humans, cardiovascular diseases, Stroke, medicine.diagnostic_test, business.industry, Posterior reversible encephalopathy syndrome, General Medicine, Subarachnoid Hemorrhage, medicine.disease, Reversible cerebral vasoconstriction syndrome, 030220 oncology & carcinogenesis, Angiography, Female, Neurology (clinical), business, 030217 neurology & neurosurgery

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::bde89b66783e69eb7ec721de792e05fe
https://doi.org/10.1097/nrl.0000000000000181

المؤلفون: Juan Domingo Ly, Stephanie Greene, Subramanian Subramanian, Giulio Zuccoli, Julia Kofler, Deepa S. Rajan

المصدر: Journal of Pediatric Neurology. 16:404-407

مصطلحات موضوعية: Pathology, medicine.medical_specialty, Ataxia, business.industry, Nystagmus, medicine.disease, 030218 nuclear medicine & medical imaging, Lesion, 03 medical and health sciences, 0302 clinical medicine, medicine.anatomical_structure, Pediatrics, Perinatology and Child Health, otorhinolaryngologic diseases, Medulla oblongata, medicine, Cyst, Neurology (clinical), Neurenteric cyst, Brainstem, medicine.symptom, business, 030217 neurology & neurosurgery, Sinus (anatomy)

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::cd950797f0917839011a26f7da1119e3
https://doi.org/10.1055/s-0038-1639375

المؤلفون: Jenna Gaesser, Cecilia Wen-Ya Lo, Ashok Panigrahy, Deepa S. Rajan, Subramanian Subramanian

المصدر: Pediatr Radiol

مصطلحات موضوعية: Olfactory system, animal structures, Acrocallosal Syndrome, Article, 030218 nuclear medicine & medical imaging, Anterior fontanelle, 03 medical and health sciences, 0302 clinical medicine, GLI3, Medicine, Humans, Radiology, Nuclear Medicine and imaging, Abnormalities, Multiple, Greig cephalopolysyndactyly syndrome, business.industry, Brain, Infant, Anatomy, Acrocephalosyndactylia, medicine.disease, Acrocallosal syndrome, Magnetic Resonance Imaging, Olfactory Bulb, Hedgehog signaling pathway, Olfactory bulb, medicine.anatomical_structure, Child, Preschool, Pediatrics, Perinatology and Child Health, embryonic structures, Female, business, Tomography, X-Ray Computed, 030217 neurology & neurosurgery, Olfactory tract

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::31188c1b31497595f67c2f953079823e
https://pubmed.ncbi.nlm.nih.gov/31399769

المؤلفون: Kavita Thakkar, François Rivier, Bitten Schönewolf-Greulich, Gaetan Lesca, Christine Francannet, Nicholas Stong, Sarah Weckhuysen, Vandana Shashi, Marjolaine Willems, Zeynep Tümer, David Goldstein, Daniel K. Arrington, Eric H. Kossoff, Anita E. Beck, Maria Virginia Soldovieri, Erin L. Heinzen, Edward C. Cooper, A. James Barkovich, Heather C Mefford, Francesco Miceli, Lynette G. Sadleir, Tristan T. Sands, Anna Lauritano, Amber Stocco, Ingrid E. Scheffer, Anne Marie Bisgaard, Ana Grijalvo Perez, Deepa S. Rajan, M. Roberta Cilio, Piera Nappi, Bénédicte Gérard, Sébastien Moutton, Maurizio Taglialatela, Antonio Vitobello, Jennifer A. Sullivan

المساهمون: UCL - SSS/IREC/PEDI - Pôle de Pédiatrie, UCL - (SLuc) Service de neurologie pédiatrique, Sands, T. T., Miceli, F., Lesca, G., Beck, A. E., Sadleir, L. G., Arrington, D. K., Schonewolf-Greulich, B., Moutton, S., Lauritano, A., Nappi, P., Soldovieri, M. V., Scheffer, I. E., Mefford, H. C., Stong, N., Heinzen, E. L., Goldstein, D. B., Perez, A. G., Kossoff, E. H., Stocco, A., Sullivan, J. A., Shashi, V., Gerard, B., Francannet, C., Bisgaard, A. -M., Tumer, Z., Willems, M., Rivier, F., Vitobello, A., Thakkar, K., Rajan, D. S., Barkovich, A. J., Weckhuysen, S., Cooper, E. C., Taglialatela, M., Cilio, M. R., Columbia University Medical Center (CUMC), Columbia University [New York], 'Federico II' University of Naples Medical School, Centre de recherche en neurosciences de Lyon (CRNL), Université Claude Bernard Lyon 1 (UCBL), Université de Lyon-Université de Lyon-Université Jean Monnet [Saint-Étienne] (UJM)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Department of Pediatrics, University of Washington, Seattle, WA, USA., University of Otago [Dunedin, Nouvelle-Zélande], St. Luke's Children's Hospital, Department of Paediatrics and Adolescent Medicine, Centre de génétique - Centre de référence des maladies rares, anomalies du développement et syndromes malformatifs (CHU de Dijon), Centre Hospitalier Universitaire de Dijon - Hôpital François Mitterrand (CHU Dijon), Department of Neuroscience, University of Naples 'Federico II,' Naples, Italy., University of Molise, Epilepsy Research Centre, University of Melbourne, University of Washington, Columbia University Irving Medical Center (CUIMC), University of California [San Francisco] (UCSF), University of California, Johns Hopkins University School of Medicine [Baltimore], INTEGRIS Baptist Medical Center, School of Irish, Celtic Studies, Irish Folklore and Linguistics, University College Dublin [Dublin] (UCD), Duke University [Durham], Service d'hématologie et immunologie, Université Paris Diderot - Paris 7 (UPD7)-AP-HP - Hôpital Bichat - Claude Bernard [Paris], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Unité de Génétique Médicale, Hôtel-Dieu-CHU Clermont-Ferrand, Rigshospitalet [Copenhagen], Copenhagen University Hospital, Clinical genetic clinic, Département de génétique médicale, maladies rares et médecine personnalisée [CHRU Montpellier], Centre Hospitalier Régional Universitaire [Montpellier] (CHRU Montpellier), Physiologie & médecine expérimentale du Cœur et des Muscles [U 1046] (PhyMedExp), Université de Montpellier (UM)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Equipe GAD (LNC - U1231), Lipides - Nutrition - Cancer [Dijon - U1231] (LNC), Université de Bourgogne (UB)-AgroSup Dijon - Institut National Supérieur des Sciences Agronomiques, de l'Alimentation et de l'Environnement-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Bourgogne (UB)-AgroSup Dijon - Institut National Supérieur des Sciences Agronomiques, de l'Alimentation et de l'Environnement-Institut National de la Santé et de la Recherche Médicale (INSERM), University of Pittsburgh School of Medicine, Pennsylvania Commonwealth System of Higher Education (PCSHE), Hospices Civils de Lyon (HCL), Centre de référence des épilepsies rares [CHU Pitié-Salpêtrière], Unité fonctionnelle d'épilepsie [CHU Pitié-Salpêtrière], Service de Neurologie [CHU Pitié-Salpêtrière], IFR70-CHU Pitié-Salpêtrière [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-IFR70-CHU Pitié-Salpêtrière [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Service de Neurologie [CHU Pitié-Salpêtrière], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), University of Antwerp, Antwerp, Belgium., Baylor College of Medecine, Section of Pharmacology, Università degli studi di Napoli Federico II, University of Naples 'Federico II,', University of Louvain, MORNET, Dominique, Centre de recherche en neurosciences de Lyon - Lyon Neuroscience Research Center (CRNL), Université de Lyon-Université de Lyon-Université Jean Monnet - Saint-Étienne (UJM)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), University of Washington [Seattle], University of Naples Federico II = Università degli studi di Napoli Federico II, Università degli Studi del Molise = University of Molise (UNIMOL), Department of Pediatrics [Seattle], University of California [San Francisco] (UC San Francisco), University of California (UC), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-AP-HP - Hôpital Bichat - Claude Bernard [Paris], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Université Paris Diderot - Paris 7 (UPD7), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Montpellier (UM)-Centre National de la Recherche Scientifique (CNRS), Université de Bourgogne (UB)-Institut National de la Santé et de la Recherche Médicale (INSERM)-AgroSup Dijon - Institut National Supérieur des Sciences Agronomiques, de l'Alimentation et de l'Environnement-Université de Bourgogne (UB)-Institut National de la Santé et de la Recherche Médicale (INSERM)-AgroSup Dijon - Institut National Supérieur des Sciences Agronomiques, de l'Alimentation et de l'Environnement, University of Antwerp (UA), Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-IFR70-CHU Pitié-Salpêtrière [AP-HP], Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Service de Neurologie [CHU Pitié-Salpêtrière], Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)

المصدر: Annals of neurology, Vol. 86, no.2, p. 181-192 (2019)
Annals of Neurology
Annals of Neurology, Wiley, 2019, ⟨10.1002/ana.25522⟩
Annals of neurology
Annals of Neurology, 2019, ⟨10.1002/ana.25522⟩

مصطلحات موضوعية: 0301 basic medicine, Male, Pediatrics, medicine.medical_specialty, Developmental Disabilities, [SDV]Life Sciences [q-bio], Encephalopathy, Electroencephalography, Protein Structure, Secondary, KCNQ3 Potassium Channel, 03 medical and health sciences, Epilepsy, Young Adult, 0302 clinical medicine, medicine, Humans, Global developmental delay, Amino Acid Sequence, Young adult, Autistic Disorder, Child, ComputingMilieux_MISCELLANEOUS, medicine.diagnostic_test, business.industry, Genetic Variation, medicine.disease, 3. Good health, [SDV] Life Sciences [q-bio], 030104 developmental biology, Clinical research, Neurology, Autism spectrum disorder, Child, Preschool, Gain of Function Mutation, Autism, Neurology (clinical), Human medicine, business, 030217 neurology & neurosurgery

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::961f2075e32a60a0b65f670463d9ed11
https://hdl.handle.net/2078.1/224457

المؤلفون: Stephanie Greene, Raffaele Nardone, Deepa S. Rajan, Dana D Cummings, Charles R. Fitz, Samuel A. Lindner, Abdullah S Khan, Giulio Zuccoli

المصدر: Topics in magnetic resonance imaging : TMRI. 27(6)

مصطلحات موضوعية: medicine.medical_specialty, Adolescent, MEDLINE, Neuroimaging, 030218 nuclear medicine & medical imaging, 03 medical and health sciences, 0302 clinical medicine, medicine, Pediatric stroke, Humans, Radiology, Nuclear Medicine and imaging, Intensive care medicine, Child, Stroke, medicine.diagnostic_test, business.industry, Brain, Magnetic resonance imaging, medicine.disease, Magnetic Resonance Imaging, Review article, Etiology, Differential diagnosis, business, Tomography, X-Ray Computed, 030217 neurology & neurosurgery

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4a37f26ea6fa9be6480fd2fd760879db
https://pubmed.ncbi.nlm.nih.gov/30516695

المؤلفون: Yoshimi Sogawa, Vinod Valentine, Deepa S. Rajan, Damara Ortiz

المصدر: Seizure. 60

مصطلحات موضوعية: 0301 basic medicine, Myoclonus, medicine.medical_specialty, 030105 genetics & heredity, 03 medical and health sciences, Epilepsy, Medicine, Humans, N-Terminal Acetyltransferase E, AKA, N-Terminal Acetyltransferase A, business.industry, General Medicine, Jeavons syndrome, medicine.disease, Dermatology, Ogden Syndrome, Neurology, Child, Preschool, Mutation (genetic algorithm), Mutation, Eyelid myoclonias, Female, Neurology (clinical), business

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0b2e823635a34295ca2fad01e75958a3
https://pubmed.ncbi.nlm.nih.gov/29957440

المؤلفون: Keri Ramsey, Dennis J. Dlugos, Bodo Laube, Carolien G.F. de Kovel, Deborah Bartholdi, Carla Mendonça, Marine Lebrun, Doriana Misceo, Johannes R. Lemke, Christeen Ramane J. Pedurupillay, Vinodh Narayanan, Petter Strømme, Thomas Dorn, Carolina Courage, Ingo Helbig, Peter De Jonghe, Joaquim Sa, Jacques L. Michaud, Heinrich Vogt, Deepa S. Rajan, Peter Nürnberg, Emilia K. Bijlsma, Vikas Bhambhani, Claudia A. L. Ruivenkamp, Sarah Weckhuysen, Steffen Syrbe, Newell Belnap, Bobby P. C. Koeleman, Isabelle Schrauwen, Catherine Badens, Amélie Piton, Delphine Héron, Amy Goldstein, Gerhard Kurlemann, Dennis Lal, Bernd A. Neubauer, Holger Thiele, Tiffany Busa, Georgianne L. Arnold, Emily S. Doherty, Julia Hentschel, Saskia Biskup, Mariëtte J.V. Hoffer, Helle Hjalgrim, Henrike O. Heyne, Christel Depienne, Ryan Richholt, Christine Francannet, Caroline Nava, Rikke S. Møller, Erik Riesch, Eirik Frengen, Kirsten Geider, Katherine L. Helbig, Mathieu Milh, Hannah Schütz, Katia Hardies, Linda De Meirleir

المساهمون: University of Calgary, CHU Pitié-Salpêtrière [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Institut du Cerveau et de la Moëlle Epinière = Brain and Spine Institute (ICM), Université Pierre et Marie Curie - Paris 6 (UPMC)-Institut National de la Santé et de la Recherche Médicale (INSERM)-CHU Pitié-Salpêtrière [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Centre National de la Recherche Scientifique (CNRS), Université Pierre et Marie Curie - Paris 6 (UPMC), Groupe de Recherche Clinique : Déficience Intellectuelle et Autisme (GRC), Medical Genetics Laboratory, Cologne Center for Genomics, University of Cologne, Department of Neuropediatrics, Center for Molecular Medicine Cologne, Cologne Excellence Cluster on Cellular Stress Responses in Aging-Associated Diseases, Institute of Medical Genetics, Universität Zürich [Zürich] = University of Zurich (UZH), Children's Hospital of Pittsburgh, Department of Molecular and Developmental Genetics (VIB11), Flanders institute of biotechnology, Institute Born-Bunge, University of Antwerp (UA), Antwerp University Hospital [Edegem] (UZA), Neurogenetics Group, Pediatric neurology- metabolic diseases, UZ Brussel, Service de pédiatrie et neurologie pédiatrique, Université de la Méditerranée - Aix-Marseille 2-Assistance Publique - Hôpitaux de Marseille (APHM)- Hôpital de la Timone [CHU - APHM] (TIMONE), Génétique Médicale et Génomique Fonctionnelle (GMGF), Aix Marseille Université (AMU)-Assistance Publique - Hôpitaux de Marseille (APHM)- Hôpital de la Timone [CHU - APHM] (TIMONE)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Département de génétique médicale [Hôpital de la Timone - APHM], Aix Marseille Université (AMU)-Assistance Publique - Hôpitaux de Marseille (APHM)- Hôpital de la Timone [CHU - APHM] (TIMONE)-Institut National de la Santé et de la Recherche Médicale (INSERM), Centre de référence maladie rare Thalassémie, Assistance Publique - Hôpitaux de Marseille (APHM)- Hôpital de la Timone [CHU - APHM] (TIMONE), Service de Génétique Clinique Chromosomique et Moléculaire, Centre Hospitalier Universitaire de Saint-Etienne [CHU Saint-Etienne] (CHU ST-E), Génétique Médicale, CHU Clermont-Ferrand-CHU Estaing [Clermont-Ferrand], CHU Clermont-Ferrand, Laboratoire de Génétique Moléculaire [CHRU Strasbourg], CHRU Strasbourg, Department of Neurodegenerative Diseases, Eberhard Karls Universität Tübingen = Eberhard Karls University of Tuebingen, Children’s Hospital of Philadelphia (CHOP ), Service de génétique, cytogénétique, embryologie [Pitié-Salpétrière], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Université Pierre et Marie Curie - Paris 6 (UPMC), Service de Génétique Cytogénétique et Embryologie [CHU Pitié-Salpêtrière], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Cologne Center for Genomics (CCG), University of Cologne, Centre de référence des épilepsies rares [CHU Pitié-Salpêtrière], Unité fonctionnelle d'épilepsie [CHU Pitié-Salpêtrière], Service de Neurologie [CHU Pitié-Salpêtrière], IFR70-CHU Pitié-Salpêtrière [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-IFR70-CHU Pitié-Salpêtrière [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Service de Neurologie [CHU Pitié-Salpêtrière], CHU Saint-Etienne, Reproduction and Genetics, Neurogenetics, Clinical sciences, Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Université Pierre et Marie Curie - Paris 6 (UPMC), Université Pierre et Marie Curie - Paris 6 (UPMC)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)-CHU Pitié-Salpêtrière [AP-HP], Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-IFR70-CHU Pitié-Salpêtrière [AP-HP], Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Service de Neurologie [CHU Pitié-Salpêtrière]

المصدر: Neurology
Neurology, 2016, 86 (23), pp.2171-2178. ⟨10.1212/WNL.0000000000002740⟩
Neurology, American Academy of Neurology, 2016, 86 (23), pp.2171-2178. ⟨10.1212/WNL.0000000000002740⟩
Repositório Científico de Acesso Aberto de Portugal
Repositório Científico de Acesso Aberto de Portugal (RCAAP)
instacron:RCAAP
Neurology, 86(23), 2171. Lippincott Williams and Wilkins
Lemke, J R, Geider, K, Helbig, K L, Heyne, H O, Schütz, H, Hentschel, J, Courage, C, Depienne, C, Nava, C, Heron, D, Møller, R S, Hjalgrim, H, Lal, D, Neubauer, B A, Nürnberg, P, Thiele, H, Kurlemann, G, Arnold, G L, Bhambhani, V, Bartholdi, D, Pedurupillay, C R J, Misceo, D, Frengen, E, Strømme, P, Dlugos, D J, Doherty, E S, Bijlsma, E K, Ruivenkamp, C A, Hoffer, M J V, Goldstein, A, Rajan, D S, Narayanan, V, Ramsey, K, Belnap, N, Schrauwen, I, Richholt, R, Koeleman, B P C, Sá, J, Mendonça, C, de Kovel, C G F, Weckhuysen, S, Hardies, K, De Jonghe, P, De Meirleir, L, Milh, M, Badens, C, Lebrun, M, Busa, T, Francannet, C, Piton, A, Riesch, E, Biskup, S, Vogt, H, Dorn, T, Helbig, I, Michaud, J L, Laube, B & Syrbe, S 2016, ' Delineating the GRIN1 phenotypic spectrum : A distinct genetic NMDA receptor encephalopathy ', Neurology, vol. 86, no. 23, pp. 2171-2178 . https://doi.org/10.1212/WNL.0000000000002740
Neurology, 86(23), 2171-2178

مصطلحات موضوعية: 0301 basic medicine, Movement disorders, Clinical Neurology, Intellectual disability, Diseases, Consanguinity, Biology, medicine.disease_cause, 03 medical and health sciences, 0302 clinical medicine, Subunits, [SDV.BBM.GTP]Life Sciences [q-bio]/Biochemistry, Molecular Biology/Genomics [q-bio.GN], medicine, Journal Article, Aphasia, Missense mutation, Genetics, Mutation, Diversity, Disorders, Cortical blindness, GRIN1, Focal epilepsy, Binding, medicine.disease, Phenotype, 3. Good health, 030104 developmental biology, biology.protein, Neurology (clinical), Human medicine, medicine.symptom, De-novo mutations, 030217 neurology & neurosurgery

وصف الملف: image/pdf; pdf; application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3e03ea5bbc794300c5d8b4b0568ec545
https://hdl.handle.net/10400.1/9427

المؤلفون: Hoda Abdel-Hamid, Deepa S. Rajan

المصدر: Neurology. 79:e197-e200

مصطلحات موضوعية: medicine.medical_specialty, Pediatrics, Neurology, Respiratory distress, medicine.diagnostic_test, Glycogen Storage Disease Type II, business.industry, media_common.quotation_subject, Infant, Physical examination, Disease, Hypoxemia, Motor delay, medicine, Macroglossia, Humans, Female, Neurology (clinical), Girl, medicine.symptom, business, media_common

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7e2b15ec6e688be49ab9d03b1cc4eca3
https://doi.org/10.1212/wnl.0b013e318276893c

المؤلفون: Deepa S, Rajan, Alexandra, Popescu

المصدر: Neurology. 78(17)

مصطلحات موضوعية: Male, Brain Neoplasms, Oxcarbazepine, Fructose, Magnetic Resonance Imaging, Corpus Callosum, Young Adult, Carbamazepine, Topiramate, Humans, Anticonvulsants, Epilepsy, Tonic-Clonic, Lipoma, Agenesis of Corpus Callosum

URL الوصول: https://explore.openaire.eu/search/publication?articleId=pmid________::902f99bb0215b3bfdc56eeb43fdbfd4b
https://pubmed.ncbi.nlm.nih.gov/22529205