المؤلفون: Valeria Viola, Kaviya Chinnappa, Fiona Francis

المصدر: Frontiers in Cell and Developmental Biology, Vol 12 (2024)

مصطلحات موضوعية: cortical development, cortical malformations, proliferation, neuronal migration, local translation, organelles, Biology (General), QH301-705.5

وصف الملف: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fcell.2024.1478283/full; https://doaj.org/toc/2296-634X

URL الوصول: https://doaj.org/article/56e533d700494c6db3c7f55000551592

المؤلفون: Nuria Ruiz-Reig, Janne Hakanen, Fadel Tissir

المصدر: Neural Regeneration Research, Vol 19, Iss 2, Pp 375-379 (2024)

مصطلحات موضوعية: brain disorders, cortical malformations, kinesin, microtubules, neurodegeneration, neurodevelopment, Neurology. Diseases of the nervous system, RC346-429

وصف الملف: electronic resource

Relation: http://www.nrronline.org/article.asp?issn=1673-5374;year=2024;volume=19;issue=2;spage=375;epage=379;aulast=; https://doaj.org/toc/1673-5374

URL الوصول: https://doaj.org/article/65944d79260f491ca2290b47906b8117

المؤلفون: Ulloa Gutiérrez, Luis Felipe, Gómez Valverde, Jessica, Guerrón Revelo, Daniela Karina

المصدر: Ciencia Latina Revista Científica Multidisciplinar; Vol. 8 Núm. 3 (2024); 2489-2498 ; 2707-2215 ; 2707-2207 ; 10.37811/cl_rcm.v8i3

مصطلحات موضوعية: gray matter heterotopia, subcortical heterotopia, magnetic resonance imaging, developmental cortical malformations, heterotopía de sustancia gris, heterotopía subcortical, resonancia magnética, malformaciones corticales del desarrollo

وصف الملف: application/pdf; text/html

Relation: https://ciencialatina.org/index.php/cienciala/article/view/11457/16745; https://ciencialatina.org/index.php/cienciala/article/view/11457/16746; https://ciencialatina.org/index.php/cienciala/article/view/11457

الاتاحة: https://ciencialatina.org/index.php/cienciala/article/view/11457
https://doi.org/10.37811/cl_rcm.v8i3.11457

المؤلفون: Soad Elziny, Peter B. Crino, Melodie Winawer

المصدر: Neurobiology of Disease, Vol 187, Iss , Pp 106299- (2023)

مصطلحات موضوعية: Glycosylation, Somatic, Cortical malformations, Focal cortical dysplasia, Epilepsy, Neurosciences. Biological psychiatry. Neuropsychiatry, RC321-571

وصف الملف: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S0969996123003145; https://doaj.org/toc/1095-953X

URL الوصول: https://doaj.org/article/d8b403e5e2a846389eae12a2554bfcf3

المؤلفون: Delfina M. Romero, Donia Zaidi, Carmen Cifuentes-Diaz, Camille Maillard, Gael Grannec, Mohammed Selloum, Marie-Christine Birling, Nadia Bahi-Buisson, Fiona Francis

المصدر: Neurobiology of Disease, Vol 180, Iss , Pp 106085- (2023)

مصطلحات موضوعية: Dynein, Human mutations, Cortical malformations, SMA-LED, Progenitors, Development, Neurosciences. Biological psychiatry. Neuropsychiatry, RC321-571

وصف الملف: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S0969996123000992; https://doaj.org/toc/1095-953X

URL الوصول: https://doaj.org/article/75faed640ac04ae287840047f5693878

المؤلفون: Andrea D. Praticò, Raffaele Falsaperla, Mattia Comella, Giuseppe Belfiore, Agata Polizzi, Martino Ruggieri

المصدر: Frontiers in Pediatrics, Vol 11 (2023)

مصطلحات موضوعية: TSC1, hamartin, tuberous sclerosis complex, microcephaly, brain cortical malformations, Pediatrics, RJ1-570

وصف الملف: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fped.2023.1101026/full; https://doaj.org/toc/2296-2360

URL الوصول: https://doaj.org/article/94e20172177b49c6a7f638f1f07c40ba

المؤلفون: Giovanni Falcicchio, Antonella Riva, Angela La Neve, Michele Iacomino, Patrizia Lastella, Patrizia Suppressa, Vittorio Sciruicchio, Maria Trojano, Pasquale Striano

المصدر: Frontiers in Genetics, Vol 13 (2023)

مصطلحات موضوعية: cortical malformations, epilepsy, exome sequencing, genetic mutations, LAMC3 case report, Genetics, QH426-470

وصف الملف: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fgene.2022.990350/full; https://doaj.org/toc/1664-8021

URL الوصول: https://doaj.org/article/7132a971f7d74efc845888cba9859151

المؤلفون: Patrick Moloney, Katherine Benson, Ethna Phelan, Mary O'Regan, Janice Redmond

مصطلحات موضوعية: Genetics, Neurogenetics, Central nervous system, Neurology and neuromuscular diseases, Paediatrics, CEP85L, Posterior subcortical band heterotopia, Lissencephaly, Focal epilepsy, cortical malformations, Miller-Dieker syndrome, gene mutations, locus deletions

Relation: 10779/rcsi.24496099.v1; https://figshare.com/articles/journal_contribution/Familial_posterior_predominant_subcortical_band_heterotopia_caused_by_a_CEP85L_missense_mutation/24496099

الاتاحة: https://figshare.com/articles/journal_contribution/Familial_posterior_predominant_subcortical_band_heterotopia_caused_by_a_CEP85L_missense_mutation/24496099

المؤلفون: Giulia Fasano, Claudia Compagnucci, Bruno Dallapiccola, Marco Tartaglia, Antonella Lauri

المصدر: Frontiers in Molecular Neuroscience, Vol 15 (2022)

مصطلحات موضوعية: forebrain, cortical malformations, rare neurodevelopmental diseases, teleosts, organoids, Neurosciences. Biological psychiatry. Neuropsychiatry, RC321-571

وصف الملف: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fnmol.2022.855786/full; https://doaj.org/toc/1662-5099

URL الوصول: https://doaj.org/article/75a61f18c87a4393a2a6ad5fc0114b27

المؤلفون: Zuzanna Kozłowska, Paulina Komasińska, Barbara Steinborn, Kinga Toboła-Wróbel, Marek Pietryga, Marta Szymankiewicz-Breborowicz, Tomasz Szczapa, Monika Bekiesińska-Figatowska

المصدر: Frontiers in Pediatrics, Vol 10 (2022)

مصطلحات موضوعية: neonate, neuroimaging, cortical malformations, torcular herophili, central nervous system, Pediatrics, RJ1-570

وصف الملف: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fped.2022.822551/full; https://doaj.org/toc/2296-2360

URL الوصول: https://doaj.org/article/ea8828c71e10461a9d8fc7f5ce5d4329

المؤلفون: Zaidi, Donia, Chinnappa, Kaviya, Francis, Fiona

المساهمون: Institut du Fer à Moulin (IFM - Inserm U1270 - SU), Institut National de la Santé et de la Recherche Médicale (INSERM)-Sorbonne Université (SU)

المصدر: ISSN: 2073-4409 ; Cells ; https://hal.sorbonne-universite.fr/hal-03872737 ; Cells, 2022, 11 (18), pp.2895. ⟨10.3390/cells11182895⟩.

مصطلحات موضوعية: primary cilia, cortical development, cortical malformations, neuronal progenitors, [SDV]Life Sciences [q-bio]

Relation: info:eu-repo/semantics/altIdentifier/pmid/36139475; hal-03872737; https://hal.sorbonne-universite.fr/hal-03872737; https://hal.sorbonne-universite.fr/hal-03872737/document; https://hal.sorbonne-universite.fr/hal-03872737/file/cells-11-02895-v2.pdf; PUBMED: 36139475; PUBMEDCENTRAL: PMC9496791

الاتاحة: https://hal.sorbonne-universite.fr/hal-03872737
https://hal.sorbonne-universite.fr/hal-03872737/document
https://hal.sorbonne-universite.fr/hal-03872737/file/cells-11-02895-v2.pdf
https://doi.org/10.3390/cells11182895

المؤلفون: Mancini, Grazia M.S., Smits, Daphne J., Dekker, Jordy, Schot, Rachel, de Wit, Marie Claire Y., Lequin, Maarten H., Dremmen, Marjolein, Brooks, Alice S., van Ham, Tjakko, Verheijen, Frans W., Fornerod, Maarten, Dobyns, William B., Wilke, Martina

المساهمون: MS Radiologie, Circulatory Health

مصطلحات موضوعية: Cortical malformations, Exome sequencing, INTS1, MACF1, RNA-seq, SMPD4, Pediatrics, Perinatology, and Child Health, Clinical Neurology

وصف الملف: application/pdf

Relation: https://dspace.library.uu.nl/handle/1874/444951

الاتاحة: https://dspace.library.uu.nl/handle/1874/444951

المؤلفون: Kim, Seyeon, Baldassari, Sara, Baulac, Stéphanie, Lee, Jeong Ho

المساهمون: Korea Advanced Institute of Science and Technology (KAIST), Institut du Cerveau = Paris Brain Institute (ICM), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-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)-Sorbonne Université (SU)-Sorbonne Université (SU)-Centre National de la Recherche Scientifique (CNRS), Universitätsklinikum Erlangen Erlangen, ANR-18-RHUS-0005,COSY,Cure Overgrowth Syndromes(2018)

المصدر: ISSN: 0364-5134.

مصطلحات موضوعية: Brain mosaicism, refractory epilepsy, cortical malformations, CSF, somatic variants, cell-free DNA, [SDV.NEU]Life Sciences [q-bio]/Neurons and Cognition [q-bio.NC]

Relation: hal-03474483; https://hal.sorbonne-universite.fr/hal-03474483; https://hal.sorbonne-universite.fr/hal-03474483/document; https://hal.sorbonne-universite.fr/hal-03474483/file/Kim%20et%20al.%20-%20Reply%20to%20%E2%80%9CImproving%20Specificity%20of%20CSF%20Liquid%20Biop.pdf

الاتاحة: https://hal.sorbonne-universite.fr/hal-03474483
https://hal.sorbonne-universite.fr/hal-03474483/document
https://hal.sorbonne-universite.fr/hal-03474483/file/Kim%20et%20al.%20-%20Reply%20to%20%E2%80%9CImproving%20Specificity%20of%20CSF%20Liquid%20Biop.pdf
https://doi.org/10.1002/ana.26188

المؤلفون: Rosenfeld, Amy B., Doobin, David J., Warren, Audrey L., Racaniello, Vincent R., Vallee, Richard B.

المصدر: Proceedings of the National Academy of Sciences of the United States of America, 2017 Nov . 114(46), 12273-12278.

URL الوصول: https://www.jstor.org/stable/26486562

المساهمون: Joshua Kubach, Angelika Muhlebner-Fahrngruber, Figen Soylemezoglu, Hajime Miyata, Pitt Niehusmann, Mrinalini Honavar, Fabio Rogerio, Se-Hoon Kim, Eleonora Aronica, Rita Garbelli, Samuel Vilz, Alexander Popp, Stefan Walcher, Christoph Neuner, Michael Scholz, Stefanie Kuerten, Verena Schropp, Sebastian Roeder, Philip Eichhorn, Markus Eckstein, Axel Brehmer, Katja Kobow, Roland Coras, Ingmar Blumcke, Samir Jabari, Kim, Se Hoon

مصطلحات موضوعية: brain, convolutional neural network, cortical malformations, deep learning, digital pathology, epilepsy

Relation: EPILEPSIA; J00793; OAK-2020-02232; https://ir.ymlib.yonsei.ac.kr/handle/22282913/175955; T202000932; EPILEPSIA, Vol.61(3) : 421-432, 2020-03

الاتاحة: https://ir.ymlib.yonsei.ac.kr/handle/22282913/175955
https://doi.org/10.1111/epi.16447
https://onlinelibrary.wiley.com/doi/full/10.1111/epi.16447

المؤلفون: Duquesne, Sophie, Nassogne, Marie-Cécile, Clapuyt, Philippe, Stouffs, Katrien, Sznajer, Yves

المساهمون: UCL - SSS/IONS - Institute of NeuroScience, UCL - SSS/IONS/NEUR - Clinical Neuroscience, UCL - SSS/IREC/IMAG - Pôle d'imagerie médicale, UCL - SSS/IREC/SLUC - Pôle St.-Luc, UCL - (SLuc) Service de radiologie, UCL - (SLuc) Centre de génétique médicale UCL, UCL - (SLuc) Service de pédiatrie générale, UCL - (SLuc) Service de neurologie pédiatrique

المصدر: European journal of medical genetics, Vol. 63, no.9, p. 103991 [1-4] (2020)

مصطلحات موضوعية: Brain, Child, Female, Humans, Kinesin, Malformations of Cortical Development, Mutation, Phenotype, Cortical malformations, Epilepsy, Intellectual disability, KIF5C gene

Relation: boreal:250210; http://hdl.handle.net/2078.1/250210; info:pmid/32562872; urn:ISSN:1769-7212; urn:EISSN:1878-0849

الاتاحة: http://hdl.handle.net/2078.1/250210
https://doi.org/10.1016/j.ejmg.2020.103991

المؤلفون: O. Kondakova B., О. Кондакова Б.

المصدر: Medical Genetics; Том 19, № 4 (2020); 64-65 ; Медицинская генетика; Том 19, № 4 (2020); 64-65 ; 2073-7998

مصطلحات موضوعية: врожденный порок развития головного мозга, кортикальные мальформации, аномалии церебральных комиссур, аномалии мозжечка, congenital brain malformations, cortical malformations, cerebral commissures abnormalities, cerebellum abnormalities

وصف الملف: application/pdf

Relation: https://www.medgen-journal.ru/jour/article/view/1158/813; https://www.medgen-journal.ru/jour/article/view/1158

الاتاحة: https://www.medgen-journal.ru/jour/article/view/1158
https://doi.org/10.25557/2073-7998.2020.04.64-65

المؤلفون: Fitsiori, Aikaterini, Hiremath, Shivaprakash Basavanthaiah, Boto, Jose Manuel, Garibotto, Valentina, Vargas Gomez, Maria Isabel

المصدر: ISSN: 2227-9067 ; Children, vol. 6, no. 3 (2019.

مصطلحات موضوعية: info:eu-repo/classification/ddc/616.0757, Epilepsy, Magnetic resonance imaging (MRI), Positron emission topography-computed tomography (PET-CT), Single positron emission computed tomography (SPECT), Hippocampal sclerosis, Cortical malformations, Diffusion tensor imaging, Spectroscopy

Relation: info:eu-repo/semantics/altIdentifier/pmid/30862078; https://archive-ouverte.unige.ch/unige:125277; unige:125277

الاتاحة: https://archive-ouverte.unige.ch/unige:125277

المؤلفون: Collins, Stephan, Uzquiano, Ana, Selloum, Mohammed, Wendling, Olivia, Gaborit, Marion, Osipenko, Maria, Birling, Marie-Christine, Yalcin, Binnaz, Francis, Fiona

المساهمون: Centre des Sciences du Goût et de l'Alimentation Dijon (CSGA), Institut National de la Recherche Agronomique (INRA)-Université de Bourgogne (UB)-AgroSup Dijon - Institut National Supérieur des Sciences Agronomiques, de l'Alimentation et de l'Environnement-Centre National de la Recherche Scientifique (CNRS), Institut de Génétique et de Biologie Moléculaire et Cellulaire (IGBMC), Université de Strasbourg (UNISTRA)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Institut du Fer à Moulin (IFM - Inserm U1270 - SU), Institut National de la Santé et de la Recherche Médicale (INSERM)-Sorbonne Université (SU), Institut National de la Santé et de la Recherche Médicale (INSERM), Institut Clinique de la Souris (ICS)

المصدر: ISSN: 0021-8782.

مصطلحات موضوعية: cortical malformations, heterotopia, mouse model of developmental disorders, [SDV.MHEP.AHA]Life Sciences [q-bio]/Human health and pathology/Tissues and Organs [q-bio.TO], [SDV.NEU]Life Sciences [q-bio]/Neurons and Cognition [q-bio.NC]

Relation: info:eu-repo/semantics/altIdentifier/pmid/31173351; hal-02303443; https://hal.sorbonne-universite.fr/hal-02303443; https://hal.sorbonne-universite.fr/hal-02303443/document; https://hal.sorbonne-universite.fr/hal-02303443/file/Collins%20et%20al.%20-%202019%20-%20The%20neuroanatomy%20of%20Eml1%20knockout%20mice,%20a%20model%20of.pdf; PUBMED: 31173351; WOS: 000482426800014

الاتاحة: https://hal.sorbonne-universite.fr/hal-02303443
https://hal.sorbonne-universite.fr/hal-02303443/document
https://hal.sorbonne-universite.fr/hal-02303443/file/Collins%20et%20al.%20-%202019%20-%20The%20neuroanatomy%20of%20Eml1%20knockout%20mice,%20a%20model%20of.pdf
https://doi.org/10.1111/joa.13013

المؤلفون: Aikaterini Fitsiori, Shivaprakash Basavanthaiah Hiremath, José Boto, Valentina Garibotto, Maria Isabel Vargas

المصدر: Children; Volume 6; Issue 3; Pages: 43

مصطلحات موضوعية: epilepsy, magnetic resonance imaging (MRI), positron emission topography-computed tomography (PET-CT), single positron emission computed tomography (SPECT), hippocampal sclerosis, cortical malformations, diffusion tensor imaging, spectroscopy

وصف الملف: application/pdf

Relation: https://dx.doi.org/10.3390/children6030043

الاتاحة: https://doi.org/10.3390/children6030043