نتائج البحث - "Aikaterini, Vezyroglou"

المساهمون: Centre de Recherche en Sciences et Technologies de l'Information et de la Communication - EA 3804 (CRESTIC), Université de Reims Champagne-Ardenne (URCA)

المصدر: Neurology
Zagaglia, S, Steel, D, Krithika, S, Hernandez-Hernandez, L, Custodio, H M, Gorman, K M, Vezyroglou, A, Møller, R S, King, M D, Hammer, T B, Spaull, R, Fazeli, W, Bartolomaeus, T, Doummar, D, Keren, B, Mignot, C, Bednarek, N, Cross, J H, Mallick, A A, Sanchis-Juan, A, Basu, A, Raymond, F L, Lynch, B J, Majumdar, A, Stamberger, H, Weckhuysen, S, Sisodiya, S M & Kurian, M A 2021, ' RHOBTB2 Mutations Expand the Phenotypic Spectrum of Alternating Hemiplegia of Childhood ', Neurology, vol. 96, no. 11, pp. e1539-e1550 . https://doi.org/10.1212/WNL.0000000000011543
Zagaglia, S, Steel, D, Krithika, S, Hernandez-Hernandez, L, Custodio, H M, Gorman, K M, Vezyroglou, A, Møller, R S, King Frcpch, M D, Hammer, T B, Spaull, R, Fazeli, W, Bartolomaeus, T, Doummar, D, Keren, B, Mignot, C, Bednarek, N, Cross, J H, Mallick, A A, Sanchis-Juan, A, Basu, A, Raymond, F L, Lynch, B J, Majumdar, A, Stamberger, H, Weckhuysen, S, Sisodiya, S M & Kurian, M A 2021, ' RHOBTB2 mutations expand the phenotypic spectrum of alternating hemiplegia of childhood ', Neurology, vol. 96, no. 11, 095539, pp. e1539-e1550 . https://doi.org/10.1212/WNL.0000000000011543
Neurology, American Academy of Neurology, 2021, 96 (11), pp.e1539-e1550. ⟨10.1212/WNL.0000000000011543⟩

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2b700d465b516cd7e2a3d872c10e4c3a
https://europepmc.org/articles/PMC8032376/

8

Alternating hemiplegia of childhood: evolution over time and mouse model corroboration

المصدر: Brain Communications

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5d7032e328a3a3fec7aacc80bd733452
http://hdl.handle.net/11567/1076306

9

Cardiac phenotype in ATP1A3-related syndromes: A multicentre cohort study

المؤلفون: Zuzanna Michalak, Marek Parowicz, Georgina Hollingsworth, Claudio Zucca, Ingrid E. Scheffer, Juan P. Kaski, Sergiu Groppa, Michael P. Carboni, Vesna Brankovic, Jacek Pilch, Ann M.E. Bye, Leticia Pias-Peleteiro, Roser Pons, Michela Stagnaro, Jan Novy, Ana Potic, Bassil Kherallah, Daniel S. Sinden, Carmen Fons, Charlotte E. Miller, Sanjay M. Sisodiya, A. Arzimanoglou, Maria Mazurkiewicz-Bełdzińska, Melissa McLean, Francesca Ragona, Rosaria Vavassori, Geoffrey S. Pitt, Raquel Samões, Eleni Panagiotakaki, Michael Ashworth, Elisa De Grandis, J. Helen Cross, Monique M. Ryan, Sarah Weckhuysen, Lyndsey Prange, Arsen S. Hunanyan, Jaume Campistol, Alessandra Gagliardi, Mohamad A. Mikati, Tiziana Granata, Inês Carrilho, Andrew M. Davis, Maria Thom, Livia Pisciotta, Allison Brashear, Aikaterini Vezyroglou, Reyes Álvarez-García-Rovés, Christopher Semsarian, Quasar S. Padiath, Andrew Tinker, Simona Balestrini, Nardo Nardocci, Karolina Dzieżyc, Edvige Veneselli

المصدر: Neurology
r-FSJD: Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
instname
r-FSJD. Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::47205323ba751dcf5cc2a1c8324afb32
http://hdl.handle.net/11567/1024573

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Cardiac phenotype in

المؤلفون: Simona, Balestrini, Mohamad A, Mikati, Reyes, Álvarez-García-Rovés, Michael, Carboni, Arsen S, Hunanyan, Bassil, Kherallah, Melissa, McLean, Lyndsey, Prange, Elisa, De Grandis, Alessandra, Gagliardi, Livia, Pisciotta, Michela, Stagnaro, Edvige, Veneselli, Jaume, Campistol, Carmen, Fons, Leticia, Pias-Peleteiro, Allison, Brashear, Charlotte, Miller, Raquel, Samões, Vesna, Brankovic, Quasar S, Padiath, Ana, Potic, Jacek, Pilch, Aikaterini, Vezyroglou, Ann M E, Bye, Andrew M, Davis, Monique M, Ryan, Christopher, Semsarian, Georgina, Hollingsworth, Ingrid E, Scheffer, Tiziana, Granata, Nardo, Nardocci, Francesca, Ragona, Alexis, Arzimanoglou, Eleni, Panagiotakaki, Inês, Carrilho, Claudio, Zucca, Jan, Novy, Karolina, Dzieżyc, Marek, Parowicz, Maria, Mazurkiewicz-Bełdzińska, Sarah, Weckhuysen, Roser, Pons, Sergiu, Groppa, Daniel S, Sinden, Geoffrey S, Pitt, Andrew, Tinker, Michael, Ashworth, Zuzanna, Michalak, Maria, Thom, J Helen, Cross, Rosaria, Vavassori, Juan P, Kaski, Sanjay M, Sisodiya

المصدر: Neurology
article-version (Version of Record) 3

مصطلحات موضوعية: Adult, Male, Adolescent, Cerebellar Ataxia, Foot Deformities, Congenital, Hearing Loss, Sensorineural, Hemiplegia, Article, Cohort Studies, Young Adult, Seizures, Humans, Child, Reflex, Abnormal, Infant, Middle Aged, Optic Atrophy, Phenotype, Child, Preschool, Mutation, Female, Sodium-Potassium-Exchanging ATPase

URL الوصول: https://explore.openaire.eu/search/publication?articleId=pmid________::f5f1425266c1f5c076503ee8555f9a36
https://pubmed.ncbi.nlm.nih.gov/32913013

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