Výsledky vyhledávání - "Julija, Pavaine"

Anticipatory banking of samples enables diagnosis of adenylosuccinase deficiency following molecular autopsy in an infant with vacuolating leukoencephalopathy

Autor: Spatikha Sitaram, Hetalika C. Banka, Grace Vassallo, Julija Pavaine, Adele Fairclough, Ronnie Wright, Lynette Fairbanks, Jörgen Bierau, Lydia Bowden, Bernd Schwahn, Alistair Horman, Siddharth Banka

Publikováno v: Sitaram, S, Banka, H C, Vassallo, G, Pavaine, J, Fairclough, A, Wright, R, Fairbanks, L, Bierau, J, Bowden, L, Schwahn, B, Horman, A & Banka, S 2023, ' Anticipatory banking of samples enables diagnosis of adenylosuccinase deficiency following molecular autopsy in an infant with vacuolating leukoencephalopathy ', American Journal of Medical Genetics. Part A, vol. 191, no. 1, pp. 234-237 . https://doi.org/10.1002/ajmg.a.62999
American Journal of Medical Genetics Part A, 191(1), 234-237. Wiley

Adenylosuccinase deficiency is a rare inborn error of metabolism. We present a newborn who died at 52 days of age with clinical features suggestive of severe epileptic encephalopathy and leukodystrophy of unknown cause. Post-mortem examination showed

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::80b3488ffa69173ca302a5bc7ec48065
https://doi.org/10.1002/ajmg.a.62999

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T2-highlighted U-fibres and rapid parenchymal volume loss in AESD: An under-recognised subtype of paediatric acute encephalopathy syndromes

Autor: Julija Pavaine, Grace Vassallo, Saipriya Ramji, Dipak Ram, Gary McCullagh

Publikováno v: Journal of Neuroradiology. 47:458-463

Acute Encephalopathy with Reduced Subcortical Diffusion or AED is a unique subtype of acute paediatric encephalopathy which presents with altered mental status, prolonged seizures and developing characteristic radiological signal changes within the s

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::99c18848325c2e4955bc6d393b8c255f
https://doi.org/10.1016/j.neurad.2019.09.003

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Neuroimaging manifestations in children with SARS-CoV-2 infection: a multinational, multicentre collaborative study

Autor: Phil Riley, Gérard Chéron, Laureline Berteloot, Gilbert Vézina, Bryan Philbrook, Camilla Lindan, Kelsey E. Poisson, Yi Li, Shubra Pagariya, Fabiana C.C. Hirata, David Grevent, Judith Chareyre, Amna Kashgari, D. Gareth Evans, A Romsauerova, Marianne Leruez-Vill, Sniya Valsa Sudhakar, Thomas Blauwblomme, Loic De-Pontual, Larry K. Kociolek, Lokesh Lingappa, Charlies-Joris Roux, Ah Young Jung, Shilpa Kulkarni, Olivia Carney, Suely Fazio Ferraciolli, Ian Kamaly-Asl, Fabrício Guimarães Gonçalves, Fabrice Lesage, Suraj Amonkar, Jeffrey Jacob, Nadine Girard, Pascale Aouad, Robin Joseph, John-Paul Kilday, Alyssa Kirsch, Jose Alejandro Bacalla, Mélodie Aubart, Gilles Brun, Kshitij Mankad, Ulrike Löbel, Gaurav Saigal, Isabelle Sermet-Gaudelus, Wissam Elfallal, Pablo Picasso De Araujo Coimbra, Volodia Dangouloff-Ros, Jane Hassell, Robert A. Dineen, Roberto Lopez-Alberola, D. Ram, Jonathan G. Murnick, David Seidenwurm, Felice D'Arco, Jai Sidpra, Romain Basmaci, María Sol Toronchik, Nihaal Reddy, Manoelle Kossorotoff, Carlos Rugilo, Gabriel Lucca de Oliveira Salvador, Daniela Duarte Moreira, Sameen Akhtar, Sarah Nahmani, Raphaël Levy, Isabelle Desguerre, Julija Pavaine, Leandro Tavares Lucato, Kandise Jackson, Douglas Alden, Susan Palasis, Blaise V. Jones, Ana Cláudia Piovesan, P. Ellen Grant, Carolina Valduga de Alencastro Guimaraes, Stavros Stivaros, Ivan A. Gonzalez, V. Michelle Silvera, Anant Krishnan, Carol Cavalcante de Vasconcelos Lima, Nathalie Boddaert, Alcino A Barbosa

Publikováno v: The Lancet Child & Adolescent Health
The Lancet Child & Adolescent Health, 2021, 5 (3), pp.167-177. ⟨10.1016/S2352-4642(20)30362-X⟩
The Lancet. Child & Adolescent Health

Summary Background The CNS manifestations of COVID-19 in children have primarily been described in case reports, which limit the ability to appreciate the full spectrum of the disease in paediatric patients. We aimed to identify enough cases that cou

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5de1bce8d722b4e39ed1d1da182216c0
https://hal-amu.archives-ouvertes.fr/hal-03590629

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Electroclinical features of MEF2C haploinsufficiency-related epilepsy: A multicenter European study

Autor: Rikke S. Møller, Diego De Angelis, Sabrina Giglio, Tiziana Granata, Maria Carmela De Muto, Elena Gardella, Massimo Carella, Clara Colonna, Chiara Pantaleoni, Luigina Spaccini, Michele Germano, Roberta Epifanio, Alice Bonuccelli, Pasquale Striano, Patrizia Bergonzini, Veronica Saletti, Marcello Scala, Giuseppe Gobbi, Federico Raviglione, Massimo Mastrangelo, Francesca Novara, Sofia Douzgou, Davide Caputo, Maria Clara Bonaglia, Alessia Mingarelli, Stefano D'Arrigo, Alberto Verrotti, Alessandro Orsini, Bernardo Dalla Bernardina, Silvia Morlino, Federico Vigevano, Marina Trivisano, Orazio Palumbo, D. Ram, Francesca Marchese, Davide Tonduti, Maria Stella Vari, Orsetta Zuffardi, Elisa Cattaneo, Claudia Gandioli, Francesca Darra, Paola De Liso, Elena Freri, Antonia Tranchina, Maurizio Elia, Julija Pavaine

Publikováno v: Raviglione, F, Douzgou, S, Scala, M, Mingarelli, A, D'Arrigo, S, Freri, E, Darra, F, Giglio, S, Bonaglia, M C, Pantaleoni, C, Mastrangelo, M, Epifanio, R, Elia, M, Saletti, V, Morlino, S, Vari, M S, De Liso, P, Pavaine, J, Spaccini, L, Cattaneo, E, Gardella, E, Møller, R S, Marchese, F, Colonna, C, Gandioli, C, Gobbi, G, Ram, D, Palumbo, O, Carella, M, Germano, M, Tonduti, D, De Angelis, D, Caputo, D, Bergonzini, P, Novara, F, Zuffardi, O, Verrotti, A, Orsini, A, Bonuccelli, A, De Muto, M C, Trivisano, M, Vigevano, F, Granata, T, Bernardina, B D, Tranchina, A & Striano, P 2021, ' Electroclinical features of MEF2C haploinsufficiency-related epilepsy : A multicenter European study ', Seizure, vol. 88, pp. 60-72 . https://doi.org/10.1016/j.seizure.2021.03.025

Purpose: Epilepsy is a main manifestation in the autosomal dominant mental retardation syndrome caused by heterozygous variants in MEF2C. We aimed to delineate the electro-clinical features and refine the genotype-phenotype correlations in patients w

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1ddfc04a343a4e95fecd1a75164905bb
https://pubmed.ncbi.nlm.nih.gov/33831796

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Pathogenic bi-allelic mutations in NDUFAF8 cause leigh syndrome with an isolated complex I deficiency

Publikováno v: Am. J. Hum. Genet. 106, 92-101 (2020)
American Journal of Human Genetics

Leigh syndrome is one of the most common neurological phenotypes observed in pediatric mitochondrial disease presentations. It is characterized by symmetrical lesions found on neuroimaging in the basal ganglia, thalamus, and brainstem and by a loss o

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e492f61ae9812a31de6e45614a727217
https://push-zb.helmholtz-muenchen.de/frontdoor.php?source_opus=57738

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Severe type I interferonopathy and unrestrained interferon signaling due to a homozygous germline mutation in STAT2

Publikováno v: Rice, G, Lovell, S, Pavaine, J, Wright, R, Zeef, L, Hambleton, S, Briggs, T & et al. 2019, ' Severe type I interferonopathy and unrestrained interferon signaling due to a homozygous germline mutation in STAT2 ', Science Immunology, vol. 4, no. 42, eaav7501 . https://doi.org/10.1126/sciimmunol.aav7501
Duncan, C J A, Thompson, B, Chen, R, Rice, G I, Gothe, F, Young, D F, Lovell, S C, Shuttleworth, V G, Brocklebank, V, Corner, B, Skelton, A J, Bondet, V, Coxhead, J, Duffy, D, Fourrage, C, Livingston, J H, Pavaine, J, Cheesman, E, Bitetti, S, Grainger, A, Acres, M, Innes, B A, Mikulasova, A, Sun, R, Hussain, R, Wright, R, Wynn, R, Zarhrate, M, Zeef, L A H, Wood, K M, Hughes, S M, Harris, C L, Engelhardt, K R, Crow, Y, Randall, R E, Kavanagh, D, Hambleton, S & Briggs, T A 2019, ' Severe type I interferonopathy and unrestrained interferon signaling due to a homozygous germline mutation in STAT2 ', Science Immunology . https://doi.org/10.1126/sciimmunol.aav7501
Science Immunology
Science Immunology, 2019, 4 (42), pp.eaav7501. ⟨10.1126/sciimmunol.aav7501⟩
Science Immunology, American Association for the Advancement of Science, 2019, 4 (42), pp.eaav7501. ⟨10.1126/sciimmunol.aav7501⟩

International audience; Excessive type I interferon (IFNα/β) activity is implicated in a spectrum of human disease, yet its direct role remains to be conclusively proven. We investigated two siblings with severe early-onset autoinflammatory disease

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b75b99ad822c9b4f4b821ead0cffb9e2
https://pure.manchester.ac.uk/ws/files/149146089/aav7501_ArticleContent_preedit_CD_clean.docx

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Severe type I interferonopathy and unrestrained interferon signaling due to a homozygous germline mutation in

Publikováno v: Sci Immunol

Excessive type I interferon (IFNα/β) activity is implicated in a spectrum of human disease, yet its direct role remains to be conclusively proven. We investigated two siblings with severe early-onset autoinflammatory disease and an elevated IFN sig

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::fe8e094a1b30710cfedf7c74356ef2b4
https://pubmed.ncbi.nlm.nih.gov/31836668

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