المؤلفون: Ding, Jiangwei, Wang, Lei, Jin, Zhe, Qiang, Yuanyuan, Li, Wenchao, Wang, Yangyang, Zhu, Changliang, Jiang, Shucai, Xiao, Lifei, Hao, Xiaoyan, Hu, Xulei, Li, Xinxiao, Wang, Feng, Sun, Tao

المصدر: Frontiers in Neurology. 13

مصطلحات موضوعية: Dravet syndrome, severe myoclonic epilepsy in infancy, SCN1A, PCDH19, epilepsy gene

وصف الملف: electronic

الوصول الحر: https://urn.kb.se/resolve?urn=urn:nbn:se:uu:diva-474208Test
https://doi.org/10.3389/fneur.2022.832380Test
https://uu.diva-portal.org/smash/get/diva2:1657831/FULLTEXT01.pdfTest

المؤلفون: Chunhong Chen, Fang Fang, Xu Wang, Junlan Lv, Xiaohui Wang, Hong Jin

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

مصطلحات موضوعية: epilepsy, sodium channel, SCN1A, genetic, generalized epilepsy with febrile seizures plus, severe myoclonic epilepsy of infancy, Neurosciences. Biological psychiatry. Neuropsychiatry, RC321-571

وصف الملف: electronic resource

العلاقة: https://www.frontiersin.org/articles/10.3389/fnmol.2022.821012/fullTest; https://doaj.org/toc/1662-5099Test

الوصول الحر: https://doaj.org/article/74cb536fbd694f04a98b276c72c66063Test

المؤلفون: Jiangwei Ding, Lei Wang, Zhe Jin, Yuanyuan Qiang, Wenchao Li, Yangyang Wang, Changliang Zhu, Shucai Jiang, Lifei Xiao, Xiaoyan Hao, Xulei Hu, Xinxiao Li, Feng Wang, Tao Sun

المصدر: Frontiers in Neurology, Vol 13 (2022)

مصطلحات موضوعية: Dravet syndrome, severe myoclonic epilepsy in infancy, SCN1A, PCDH19, epilepsy gene, Neurology. Diseases of the nervous system, RC346-429

وصف الملف: electronic resource

العلاقة: https://www.frontiersin.org/articles/10.3389/fneur.2022.832380/fullTest; https://doaj.org/toc/1664-2295Test

الوصول الحر: https://doaj.org/article/04a0bc30412b4bf7868c1c386853ee6eTest

المؤلفون: Wyers, Lore, Di Marco, Roberto, Zambelli, Stefano, Masiero, Stefano, Hallemans, Ann, Van de Walle, Patricia, Desloovere, Kaat, Del Felice, Alessandra

المساهمون: Wyers, Lore, Di Marco, Roberto, Zambelli, Stefano, Masiero, Stefano, Hallemans, Ann, Van de Walle, Patricia, Desloovere, Kaat, Del Felice, Alessandra

مصطلحات موضوعية: Biomechanics, Center of pressure, Gait, Heel strike, Pedobarography, Severe myoclonic epilepsy of infancy (SMEI), Adolescent, Adult, Child, Preschool, Epilepsies, Myoclonic, Female, Foot, Heel, Humans, Male, Walking, Young Adult

وصف الملف: ELETTRONICO

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/33445140; info:eu-repo/semantics/altIdentifier/wos/WOS:000619167400002; volume:84; firstpage:315; lastpage:320; numberofpages:6; journal:GAIT & POSTURE; http://hdl.handle.net/11562/1061874Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85099186147

الإتاحة: https://doi.org/10.1016/j.gaitpost.2020.12.030Test
http://hdl.handle.net/11562/1061874Test

المؤلفون: Bertuccelli, M, Verheyen, K, Hallemans, A, Sander, JW, Ragona, F, Bisiacchi, P, Masiero, S, Del Felice, A

المصدر: Epilepsia , 62 (4) pp. 874-887. (2021)

مصطلحات موضوعية: cerebellar impairment, cognition, dorsal stream, sensorimotor integration, severe myoclonic epilepsy in infancy

وصف الملف: text

العلاقة: https://discovery.ucl.ac.uk/id/eprint/10124070/1/Bertuccelli_manuscripttext_revision_clean%20final.pdfTest; https://discovery.ucl.ac.uk/id/eprint/10124070Test/

الإتاحة: https://discovery.ucl.ac.uk/id/eprint/10124070/1/Bertuccelli_manuscripttext_revision_clean%20final.pdfTest
https://discovery.ucl.ac.uk/id/eprint/10124070Test/

المؤلفون: Figueiredo, Rafael Costa, Rocha, Ruben, Freitas Baptista , Cristina, Santos, Manuela, Figueiroa , Sónia, Carrilho, Inês, Temudo, Teresa

المصدر: NASCER E CRESCER - BIRTH AND GROWTH MEDICAL JOURNAL; Vol. 30 No. 4 (2021); 213-218 ; NASCER E CRESCER - BIRTH AND GROWTH MEDICAL JOURNAL; Vol. 30 N.º 4 (2021); 213-218 ; 2183-9417

مصطلحات موضوعية: Dravet syndrome, SCN1A gene, Severe myoclonic epilepsy in infancy, epilepsia mioclónica grave da infância, gene SCN1A, síndrome de Dravet

وصف الملف: application/pdf

العلاقة: https://revistas.rcaap.pt/nascercrescer/article/view/21347/19136Test; https://revistas.rcaap.pt/nascercrescer/article/view/21347Test

الإتاحة: https://revistas.rcaap.pt/nascercrescer/article/view/21347Test

المؤلفون: Figueiredo Costa, Marcos, Rocha, Ruben, Baptista, Cristina Freitas, Santos, Manuela, Figueiroa, Sónia, Carrilho, Inês, Temudo, Teresa

مصطلحات موضوعية: Dravet Syndrome, SCN1A gene, severe myoclonic epilepsy in infancy

العلاقة: Nascer e Crescer - Birth and Growth Medical Journal 2021;30(4):213-218. doi:10.25753/BirthGrowthMJ.v30.i4.21347; http://hdl.handle.net/10400.16/2750Test; https://doi.org/10.25753/BirthGrowthMJ.v30.i4.21347Test

الإتاحة: https://doi.org/10.25753/BirthGrowthMJ.v30.i4.21347Test
http://hdl.handle.net/10400.16/2750Test

المؤلفون: Giulia Campostrini, Jacopo C. DiFrancesco, Barbara Castellotti, Raffaella Milanesi, Tomaso Gnecchi-Ruscone, Mattia Bonzanni, Annalisa Bucchi, Mirko Baruscotti, Carlo Ferrarese, Silvana Franceschetti, Laura Canafoglia, Francesca Ragona, Elena Freri, Angelo Labate, Antonio Gambardella, Cinzia Costa, Cinzia Gellera, Tiziana Granata, Andrea Barbuti, Dario DiFrancesco

المصدر: Frontiers in Molecular Neuroscience, Vol 11 (2018)

مصطلحات موضوعية: HCN4, epilepsy, ion channels, myoclonic epilepsy of infancy, neuronal excitability, Neurosciences. Biological psychiatry. Neuropsychiatry, RC321-571

وصف الملف: electronic resource

العلاقة: https://www.frontiersin.org/article/10.3389/fnmol.2018.00269/fullTest; https://doaj.org/toc/1662-5099Test

الوصول الحر: https://doaj.org/article/92864aee37004121b3bebabcbb21ec80Test

المؤلفون: Campostrini, G, Difrancesco, JC, Castellotti, B, Milanesi, R, Gnecchi-Ruscone, T, Bonzanni, M, Bucchi, A, Baruscotti, M, Ferrarese, C, Franceschetti, S, Canafoglia, L, Ragona, F, Freri, Elena, Labate, Angelo, Gambardella, A, Costa, C, Gellera, C, Granata, T, Barbuti, A, Difrancesco, D

المساهمون: Campostrini, G, Difrancesco, J, Castellotti, B, Milanesi, R, Gnecchi-Ruscone, T, Bonzanni, M, Bucchi, A, Baruscotti, M, Ferrarese, C, Franceschetti, S, Canafoglia, L, Ragona, F, Freri, E, Labate, A, Gambardella, A, Costa, C, Gellera, C, Granata, T, Barbuti, A, Difrancesco, D

مصطلحات موضوعية: Epilepsy, HCN4, Ion channel, Myoclonic epilepsy of infancy, Neuronal excitability, Molecular Biology, Cellular and Molecular Neuroscience

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/30127718; info:eu-repo/semantics/altIdentifier/wos/WOS:000440819300001; volume:11; firstpage:269; journal:FRONTIERS IN MOLECULAR NEUROSCIENCE; http://hdl.handle.net/10281/226407Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85053462278

الإتاحة: https://doi.org/10.3389/fnmol.2018.00269Test
http://hdl.handle.net/10281/226407Test

المؤلفون: Figueiredo, Rafael Costa, Rocha, Ruben, Freitas Baptista , Cristina, Santos, Manuela, Figueiroa , Sónia, Carrilho, Inês, Temudo, Teresa

المصدر: Nascer e Crescer v.30 n.4 2021
NASCER E CRESCER-BIRTH AND GROWTH MEDICAL JOURNAL; Vol. 30 No. 4 (2021); 213-218
NASCER E CRESCER-BIRTH AND GROWTH MEDICAL JOURNAL; Vol. 30 N.º 4 (2021); 213-218
Repositório Científico de Acesso Aberto de Portugal
Repositório Científico de Acesso Aberto de Portugal (RCAAP)
instacron:RCAAP

مصطلحات موضوعية: síndrome de Dravet, Dravet Syndrome, severe myoclonic epilepsy in infancy, gene SCN1A, epilepsia mioclónica grave da infância, SCN1A gene, Severe myoclonic epilepsy in infancy, Dravet syndrome

وصف الملف: text/html; application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f1f52c0c3572c9814a92e4904eeb6789Test