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1دورية أكاديمية
المؤلفون: Aikaterini Vezyroglou, Peter Hebden, Isabel De Roever, Rachel Thornton, Subhabrata Mitra, Alan Worley, Mariana Alves, Emma Dean, Judith Helen Cross, Ilias Tachtsidis
المصدر: Metabolites, Vol 12, Iss 3, p 260 (2022)
مصطلحات موضوعية: broadband Near Infrared Spectroscopy (bNIRS), paediatric epilepsy, brain metabolism, brain injury, seizures, Microbiology, QR1-502
وصف الملف: electronic resource
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المؤلفون: Dora Steel, Aikaterini Vezyroglou, Katy Barwick, Martin Smith, Julie Vogt, Frances M. Gibbon, J. Helen Cross, Manju A. Kurian
المصدر: Movement Disorders. 38:155-157
مصطلحات موضوعية: Neurology, Neurology (clinical)
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المؤلفون: Aikaterini Vezyroglou, Rhoda Akilapa, Katy Barwick, Saskia Koene, Catherine A. Brownstein, Muriel Holder-Espinasse, Andrew E. Fry, Andrea H. Németh, George K. Tofaris, Eleanor Hay, Imelda Hughes, Sahar Mansour, Santosh R. Mordekar, Miranda Splitt, Peter D. Turnpenny, Demetria Demetriou, Tamara T. Koopmann, Claudia A.L. Ruivenkamp, Pankaj B. Agrawal, Lucinda Carr, Virginia Clowes, Neeti Ghali, Susan Elizabeth Holder, Jessica Radley, Alison Male, Sanjay M. Sisodiya, Manju A. Kurian, J. Helen Cross, Meena Balasubramanian
المصدر: Neurology, 99(14), E1511-E1526. LIPPINCOTT WILLIAMS & WILKINS
مصطلحات موضوعية: Neurology (clinical)
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e23883a196d3c5ae16dc2de06f170846
https://hdl.handle.net/1887/3562155 -
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المؤلفون: Sophia Varadkar, Karl Strobl, Ingrid E. Scheffer, Aikaterini Vezyroglou, Thomas Bast, Edouard Hirsch, A. Simon Harvey, J. Helen Cross, Sanjay M. Sisodiya
المصدر: Developmental Medicine & Child Neurology. 62:1331-1335
مصطلحات موضوعية: Adult, Male, 030506 rehabilitation, Pediatrics, medicine.medical_specialty, Adolescent, Epilepsies, Myoclonic, Scn1a mutation, Lesion, Young Adult, 03 medical and health sciences, Epilepsy, 0302 clinical medicine, Developmental Neuroscience, Dravet syndrome, Outcome Assessment, Health Care, medicine, Humans, In patient, Epilepsy surgery, Child, business.industry, Genetic variants, Mean age, medicine.disease, NAV1.1 Voltage-Gated Sodium Channel, Child, Preschool, Pediatrics, Perinatology and Child Health, Female, Epilepsies, Partial, Neurology (clinical), medicine.symptom, 0305 other medical science, business, 030217 neurology & neurosurgery
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المؤلفون: Aikaterini, Vezyroglou, Rhoda, Akilapa, Katy, Barwick, Saskia, Koene, Catherine A, Brownstein, Muriel, Holder-Espinasse, Andrew E, Fry, Andrea H, Németh, George K, Tofaris, Eleanor, Hay, Imelda, Hughes, Sahar, Mansour, Santosh R, Mordekar, Miranda, Splitt, Peter D, Turnpenny, Demetria, Demetriou, Tamara T, Koopmann, Claudia A L, Ruivenkamp, Pankaj B, Agrawal, Lucinda, Carr, Virginia, Clowes, Neeti, Ghali, Susan Elizabeth, Holder, Jessica, Radley, Alison, Male, Sanjay M, Sisodiya, Manju A, Kurian, J Helen, Cross, Meena, Balasubramanian
المصدر: Neurology. 99(14)
مصطلحات موضوعية: Phenotype, Cerebellar Ataxia, Dystonic Disorders, Mutation, Humans, Hemiplegia, Sodium-Potassium-Exchanging ATPase
URL الوصول: https://explore.openaire.eu/search/publication?articleId=pmid________::67592d339c174537fd45c21ca62fdf2c
https://pubmed.ncbi.nlm.nih.gov/36192182 -
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المؤلفون: Aikaterini Vezyroglou, Suresh Pujar, Tricia Rutherford, Natasha E. Schoeler, Christin Eltze, Tom Barker, J. Helen Cross, Robert G. Robinson, Shamima Rahman, Hannah Smith, Zoe Simpson, Baheerathi Van de Bor, Simon Heales, Michael Orford, Robin S.B. Williams, Erika Brennan, Richard J. Jackson, Sanjeev Rajakulendran, Bridget Lambert, Umesh Vivekananda, Judith Kalser, Simon Eaton, Sophia Varadkar, Simona Balestrini, Sanjay M. Sisodiya, James McKenna, Matthew C. Walker
المصدر: Brain Communications
مصطلحات موضوعية: Medical food, Pediatrics, medicine.medical_specialty, AcademicSubjects/SCI01870, Diet therapy, business.industry, seizure, medicine.medical_treatment, General Engineering, medicine.disease, Drug Resistant Epilepsy, Discontinuation, ketogenic, Epilepsy, Tolerability, medicine, Original Article, AcademicSubjects/MED00310, decanoic acid, Ketosis, business, C10, Ketogenic diet
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f4c2a992e9118d956a815315830a59de
https://doi.org/10.1093/braincomms/fcab160 -
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المؤلفون: Nathalie Bednarek, Hannah Stamberger, Anna Basu, Diane Doummar, Walid Fazeli, Sara Zagaglia, Rikke S. Møller, F. Lucy Raymond, S. Krithika, Andrew A Mallick, Tobias Bartolomaeus, Trine Bjørg Hammer, Sarah Weckhuysen, Manju A. Kurian, J. Helen Cross, Bryan Lynch, Alba Sanchis-Juan, Laura Hernandez-Hernandez, Sanjay M. Sisodiya, Helena Martins Custodio, Anirban Majumdar, Cyril Mignot, Dora Steel, Robert Spaull, Mary D. King, Aikaterini Vezyroglou, Kathleen M. Gorman, Boris Keren
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⟩مصطلحات موضوعية: 0301 basic medicine, Dystonia, Pediatrics, medicine.medical_specialty, Ataxia, business.industry, Alternating hemiplegia of childhood, medicine.disease, Article, 3. Good health, 03 medical and health sciences, Epilepsy, 030104 developmental biology, 0302 clinical medicine, ATP1A3, Intellectual disability, medicine, Missense mutation, Human medicine, Neurology (clinical), Young adult, medicine.symptom, business, [SDV.MHEP]Life Sciences [q-bio]/Human health and pathology, 030217 neurology & neurosurgery
وصف الملف: application/pdf
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2b700d465b516cd7e2a3d872c10e4c3a
https://europepmc.org/articles/PMC8032376/ -
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المؤلفون: Milton Pratt, Julie Uchitel, Blaire Rikard, Linh Tran, Joan Jasien, Rosaria Vavassori, Carmen Fons, Elisa De Grandis, Keri Wallace, Alexis Arzimanoglou, Isabella Cocco, Erin L. Heinzen, Lyndsey Prange, Eleni Panagiotakaki, Maria T Papadopoulou, Mohamad A. Mikati, Laura Caligiuri, David Goldstein, Arsen S. Hunanyan, Rebecca Moré, Tavis Abrahamsen, Aikaterini Vezyroglou
المصدر: Brain Communications
مصطلحات موضوعية: Pediatrics, medicine.medical_specialty, Gross motor skill, Disease, Electroencephalography, Neurodevelopmental disorder, ATP1A3, Intellectual disability, disability, Mashlool D801N mouse, medicine, medicine.diagnostic_test, AcademicSubjects/SCI01870, business.industry, Alternating hemiplegia of childhood, General Engineering, medicine.disease, disability, Cohort, alternating hemiplegia of childhood, progression, Original Article, AcademicSubjects/MED00310, Mashlool D801N mouse, business
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5d7032e328a3a3fec7aacc80bd733452
http://hdl.handle.net/11567/1076306 -
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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 Déuمصطلحات موضوعية: medicine.medical_specialty, Cerebellar ataxia, Heart block, business.industry, Alternating hemiplegia of childhood, 030204 cardiovascular system & hematology, medicine.disease, 3. Good health, Sudden cardiac death, 03 medical and health sciences, 0302 clinical medicine, Atrophy, ATP1A3, Internal medicine, medicine, Cardiology, Repolarization, Sensorineural hearing loss, Human medicine, Neurology (clinical), medicine.symptom, business, Biology, 030217 neurology & neurosurgery
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::47205323ba751dcf5cc2a1c8324afb32
http://hdl.handle.net/11567/1024573 -
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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) 3مصطلحات 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