نتائج البحث

المساهمون: Querzani, Andrea, Sirchia, Fabio, Rustioni, Gianluca, Rossi, Alessandra, Orsini, Alessandro, Marseglia, Gian Luigi, Savasta, Salvatore, Chiapparini, Luisa, Foiadelli, Thomas

مصطلحات موضوعية: CASK, Case report, Cerebellar hypoplasia, KIRREL3, Neurodevelopmental disorders

وصف الملف: ELETTRONICO

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/37605258; volume:49; issue:1; firstpage:99; journal:THE ITALIAN JOURNAL OF PEDIATRICS; https://hdl.handle.net/11571/1482259Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85168468434

الإتاحة: https://doi.org/10.1186/s13052-023-01488-7Test
https://hdl.handle.net/11571/1482259Test

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4

Kirrel3-Mediated Synapse Formation Is Attenuated by Disease-Associated Missense Variants

المؤلفون: Stylianos E. Antonarakis, E. Anne Martin, Rajdeep Trilokekar, Megan E. Williams, Matthew R. Taylor, Emmanuelle Ranza, Brooke Sinnen

المصدر: J Neurosci

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::934c8f4feeeacdd5de0eb6afefb2bd09Test
https://doi.org/10.1523/jneurosci.3058-19.2020Test

5

دورية أكاديمية

The intellectual disability gene Kirrel3 regulates target-specific mossy fiber synapse development in the hippocampus

المؤلفون: E Anne Martin, Shruti Muralidhar, Zhirong Wang, Diégo Cordero Cervantes, Raunak Basu, Matthew R Taylor, Jennifer Hunter, Tyler Cutforth, Scott A Wilke, Anirvan Ghosh, Megan E Williams

المصدر: eLife, Vol 4 (2015)

مصطلحات موضوعية: hippocampus, Kirrel3, cell adhesion, synaptic specificity, Medicine, Science, Biology (General), QH301-705.5

وصف الملف: electronic resource

العلاقة: https://elifesciences.org/articles/09395Test; https://doaj.org/toc/2050-084XTest

الوصول الحر: https://doaj.org/article/778ff2e2254b406c8f09a4b553e75101Test

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النص الكامل

6

A Missense De Novo Variant in the CASK-interactor KIRREL3 Gene Leading to Neurodevelopmental Disorder with Mild Cerebellar Hypoplasia

المؤلفون: Chiara Pantaleoni, Alessandra Murgia, Silvia Esposito, Claudia Ciaccio, Emanuela Leonardi, Roberta Polli, Luisa Chiapparini, Stefano D'Arrigo, Elisa Granocchio

المصدر: Neuropediatrics. 52(6)

مصطلحات موضوعية: 0301 basic medicine, Axonal fasciculation, cerebellar hypoplasia, Autism Spectrum Disorder, Developmental Disabilities, Central nervous system, medicine.disease_cause, Nervous System Malformations, pediatric ataxia, 03 medical and health sciences, 0302 clinical medicine, Neurodevelopmental disorder, Cerebellum, medicine, Missense mutation, Humans, developmental disorders, developmental delay, KIRREL3, CASK, Child, Mutation, business.industry, General Medicine, medicine.disease, 030104 developmental biology, medicine.anatomical_structure, Autism spectrum disorder, Neurodevelopmental Disorders, Pediatrics, Perinatology and Child Health, Neurology (clinical), business, Neuroscience, 030217 neurology & neurosurgery

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fb57a0ce9fbdb20866e0d62693694966Test
https://pubmed.ncbi.nlm.nih.gov/33853164Test

7

Molecular and Structural Basis of Olfactory Sensory Neuron Coalescence by Kirrel Receptors

المؤلفون: Yeonwoo Park, Joseph S. Pak, Jean-François Cloutier, Neelima Vaddadi, Emilie Dumontier, Engin Özkan, Sabrina Quilez, Joseph W. Thornton, Christina A. Roman, Jing Wang

مصطلحات موضوعية: medicine.anatomical_structure, KIRREL3, Chemistry, medicine, Interaction site, Sensory system, Coalescence (chemistry), Accessory Olfactory Bulb, Receptor, Sensory neuron, Cell biology

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::9d067f3fd2fb902b93a6680973ad7210Test
https://doi.org/10.1101/2021.03.09.434456Test

8

دورية أكاديمية

A Missense de Novo Variant in the CASK -interactor KIRREL3 Gene Leading to Neurodevelopmental Disorder with Mild Cerebellar Hypoplasia

المؤلفون: Ciaccio C., Leonardi E., Polli R., Murgia A., D'Arrigo S., Granocchio E., Chiapparini L., Pantaleoni C., Esposito S.

المساهمون: Ciaccio, C., Leonardi, E., Polli, R., Murgia, A., D'Arrigo, S., Granocchio, E., Chiapparini, L., Pantaleoni, C., Esposito, S.

مصطلحات موضوعية: cerebellar hypoplasia, developmental delay, developmental disorder, KIRREL3, pediatric ataxia

وصف الملف: ELETTRONICO

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/33853164; info:eu-repo/semantics/altIdentifier/wos/WOS:000640005900005; journal:NEUROPEDIATRICS; http://hdl.handle.net/11577/3391288Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85104381200

الإتاحة: https://doi.org/10.1055/s-0041-1725964Test
http://hdl.handle.net/11577/3391288Test

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