Neuroimaging of Fetal Infection

Autor: C Marchal, D D McIntire, M Massoud, F Lazzini, N Linder, D Levine, C Gutiérrez-Márquez, L A Bailão, G L Hedlund, G C Meyberg-Solomayer, G G Colleoni, A Benachi, T R de Haan, L Quartulli, P M Jayaram, G F Eich, L W Averill, A Vorsselmans, F Bonilla-Musoles, A Vossough, M S van der Knaap, L Geerts, F Dhombres, D Kidron, M L Watt-Morse, F Peyron, J Pardo, J Nijman, J Amir, J E Sanín-Blair, N P Deasy, H Werner, J Atias, M de Santis, M T Whitehead, P T Levy, P Tomà, M Vouga, S Friszer, A Buenerd, B Tatli, G Malm, G Duarte, B Weisz, H Buxmann, G Hartnoll, A Perolo, P Bonasoni, S Stagno, B Tseng, Y J Crow, R Biancheri, T Lerman-Sagie, K Dewar, M A Verboon-Maciolek, D O'Rourke, O Picone, M A al Thagafi, J T Parer, M L Rossi, S Lipitz, M Mohlo, F Brunelle, L Schuler-Faccini, J L Anderson, O A Glenn, R Wright, D Lev, M Uriel, D M Twickler, L R Pistorius, M Wien, L M Hill, F Piersigilli, B Maugey-Laulom, R F Pass, C E Lindan, A Beke, Y Murakami, H Gunardi, B Guerra, R Salmaso, E Martin, V Wiwanitkit, G Sournies, D Warren, A Yuksel, M L Kulkarni, G R Nagy, Y Mogami, K Latkóczy, A Carletti, J C Rodriguez Leonel, Y Suzuki, A Zerem, N Teissier, Y Yinon, G Cloud, L S de Vries, C A Alford, I Simon, B Suarez, P Mezzano, P Pinaud, C Soussotte, A A Karparov, M C Maberry, P Soares de Oliveira-Szejnfeld, G M Magnano, A L White, T Drier de Laforte, A G Cordier, M Besnard, S al Shahwan, P W Callen, M D King, F H Carvalho, L J Salomon, Y Akyol, A S Melo, D Nadal, M I Steinlin, E Araujo Júnior, M L Daniel, C Cluver, C R Wake, K Yanagihara, M Nishioka, I H Kalelioglu, Ashley J. Robinson, A Rossi, E Done, C Auriti, D Pugash, Y Toribe, J Gunkel, A C Regenstein, W K Oliveira, P Maurice, J F Bale, F Gay-Andrieu, N M Mehta, K B Fowler, G M Schauer, L A Ramenghi, L A Bok, M M Cannie, C Parazzini, R Has, S A Laifer, A Righini, A J Barkovich, P Sonigo, M Epelman, M Feldmann, M Tamarkin, A M Kulkarni, Y Ville, E J Boltshauser, S Domizio, A Yildirim, B Feldman, W Bonacci, S Sigaudy, S Ryan, N Farkas, G A Vorona, J Garcia-Flores, E Schiff, E Cristina, C Y Ho, A U Stücker, S N Bryant, S Parisot, V V Kandula, J M Jarosz, B J Freij, C Gire, J M Jouannic, K B Leonard, P S Dimova, G J Demmler, N G Osborne, L Sanapo, L Guibaud, M R De Gasperis, P Guillemette-Artur, L Ben-Sira, S Baskar, T C Cox, C P Dunham, T Matsuishi, M Recio, S M Lanni, E M Korhonen, B Joob, M M Amorim, Y Dogan, G V França, M Motobayashi, L Tychsen, P G Barth, D Baud, C L Ong, P Marty, T C Bailão, M Nishikawa, D Carles, L Bradley, P Droulle, N Girard, D M Money, S Stivaros, M W Rac, D A Herrera, W J Britt, M Severino, J H Livingston, I Muller-Hansen, N Zahalka, M C Rizzi, M. Ashraf Ederies, E H Gröndahl, M Cagneaux, T J Boll, J Pialat, J R Marquis, C Garel, F S Cole, R Franco, J Perlman, J Attia-Sobol, N Oosterom, M Leyder, J L Sever, D Prayer, T Fehm, D Eyrolle-Guignot, R S Aguiar, D J Bonthius, G Malinger, M Tepperberg-Dikawa, F Groenendaal, G Serra, H Odendaal, A Reitter, G Seganti, G Tonni, C Doneda, C Hoffmann, L Ben Sira, C D Smyser, F Jacquemard, Y Yamashita, G Sabatino, G Simonazzi, A D Bardeguez, R Meyer, J P Crino, E Hughes, J Courtier, R W Driggers, Y Inaba, F Diard, R Devlieger, I Lewensohn-Fuchs, G Hendson, M L Engman, J Smal, G Benoist

Publikováno v: Journal of Pediatric Neurology. 15:192-200

Infection during pregnancy is common and the developing fetal brain is vulnerable to vertical transmission due to immaturity of the fetal immune system. Infection is a major cause of multiple organ abnormalities, including the neuraxis, due to the ne

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::11f68a270fe23e58d18199f4d78964c1
https://doi.org/10.1055/s-0037-1604219

Comprehensive molecular screening strategy of OCLN in band-like calcification with simplified gyration and polymicrogyria

Autor: E M, Jenkinson, J H, Livingston, M C, O'Driscoll, I, Desguerre, R, Nabbout, N, Boddaert, G, Soares, M, Gonçalves da Rocha, S, D'Arrigo, G I, Rice, Y J, Crow

Publikováno v: Clinical genetics. 93(2)

Occludin (OCLN) is an important component of the tight junction complex, providing apical intercellular connections between adjacent cells in endothelial and epithelial tissue. In 2010 O'Driscoll et al reported mutations in OCLN to cause band-like ca

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::da0da94ede061d790fa5a5cc1447ecaf
https://pubmed.ncbi.nlm.nih.gov/28386946

Mutations in the palmitoyl-protein thioesterase gene (PPT; CLN1) causing juvenile neuronal ceroid lipofuscinosis with granular osmiophilic deposits

Autor: H M, Mitchison, S L, Hofmann, C H, Becerra, P B, Munroe, B D, Lake, Y J, Crow, J B, Stephenson, R E, Williams, I L, Hofman, P E, Taschner, J J, Martin, M, Philippart, E, Andermann, F, Andermann, S E, Mole, R M, Gardiner, A M, O'Rawe

Publikováno v: Human molecular genetics. 7(2)

A subtype of neuronal ceroid lipofuscinosis (NCL) is well recognized which has a clinical course consistent with juvenile NCL (JNCL) but the ultrastructural characteristics of infantile NCL (INCL): granular osmiophilic deposits (GROD). Evidence suppo

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::94f4f4babdf890d2f2c2c00fd22b6fff
https://pubmed.ncbi.nlm.nih.gov/9425237

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Overview of STING-Associated Vasculopathy with Onset in Infancy (SAVI) Among 21 Patients

Autor: Olivier Brocq, Pere Soler-Palacín, Jérôme Sirvente, Brigitte Bader-Meunier, Rawane Dagher, Naoki Kitabayashi, Laureline Berteloot, Sophie Willcocks, Nadia Jeremiah, Laura Barnabei, Stefano Volpi, Eline Van Aerde, Sylvain Breton, Damien Chan, Alice Hadchouel, Vincent Bondet, Eric Jeziorski, Despina Moshous, Antonella Insalaco, Jean-Christophe Dubus, Thierry Jo Molina, Isabelle Melki, Nathalie Stremler-Le Bel, Stéphane Blanche, Marie-Anne Morren, Alain Fischer, Mireia Lopez-Corbeto, Gillian I. Rice, Marie-Louise Frémond, Carine Wouters, Yanick J. Crow, Séverine Feuillet-Soummer, Jacques G. Rivière, Françoise Mazingue, Violaine Bresson, Bénédicte Neven, Alexandre Belot, Mathieu Fusaro, Guillaume Thouvenin, Darragh Duffy, Frédéric Rieux-Laucat, Caroline Thumerelle, Luis Seabra, Marco Gattorno

Publikováno v: Journal of Allergy and Clinical Immunology: In Practice
Journal of Allergy and Clinical Immunology: In Practice, Elsevier, 2021, 9 (2), pp.803-818.e11. ⟨10.1016/j.jaip.2020.11.007⟩
Journal of Allergy and Clinical Immunology: In Practice, 2021, 9 (2), pp.803-818.e11. ⟨10.1016/j.jaip.2020.11.007⟩
Frémond, M-L, Hadchouel, A, Berteloot, L, Melki, I, Bresson, V, Barnabei, L, Jeremiah, N, Belot, A, Bondet, V, Brocq, O, Chan, D, Dagher, R, Dubus, J-C, Duffy, D, Feuillet-Soummer, S, Fusaro, M, Gattorno, M, Insalaco, A, Jeziorski, E, Kitabayashi, N, Lopez-Corbeto, M, Mazingue, F, Morren, M-A, Rice, G I, Rivière, J G, Seabra, L, Sirvente, J, Soler-Palacin, P, Stremler-Le Bel, N, Thouvenin, G, Thumerelle, C, Van Aerde, E, Volpi, S, Willcocks, S, Wouters, C, Breton, S, Molina, T, Bader-Meunier, B, Moshous, D, Fischer, A, Blanche, S, Rieux-Laucat, F, Crow, Y J & Neven, B 2021, ' Overview of STING-Associated Vasculopathy with Onset in Infancy (SAVI) Among 21 Patients ', The journal of allergy and clinical immunology. In practice . https://doi.org/10.1016/j.jaip.2020.11.007
The Journal of Allergy and Clinical Immunology: In Practice
Frémond, M-L, Hadchouel, A, Berteloot, L, Melki, I, Bresson, V, Barnabei, L, Jeremiah, N, Belot, A, Bondet, V, Brocq, O, Chan, D, Dagher, R, Dubus, J C, Duffy, D, Feuillet-Soummer, S, Fusaro, M, Gattorno, M, Insalaco, A, Jeziorski, E, Kitabayashi, N, Lopez-Corbeto, M, Mazingue, F, Morren, M-A, Rice, G, Riviere, J G, Seabra, L, Sirvente, J, Soler-Palacin, P, Stremler-Le Bel, N, Thouvenin, G, Thumerelle, C, van Aerde, E, Volpi, S, Willcocks, S, Wouters, C, Breton, S, Molina, T, Bader-Meunier, B, Moshous, D, Fischer, A, Blanche, S, Rieux-Laucat, F, Crow, Y J & Neven, B 2020, ' Overview of STING-associated vasculopathy with onset in infancy (SAVI) among 21 patients ', The journal of allergy and clinical immunology. In practice . https://doi.org/10.1016/j.jaip.2020.11.007

BACKGROUND: Gain-of-function mutations in STING1 underlie a type I interferonopathy termed SAVI (STING-associated vasculopathy with onset in infancy). This severe disease is variably characterized by early-onset systemic inflammation, skin vasculopat

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6673a907b3ee5fe2476757333ce0d874
https://hal.umontpellier.fr/hal-03228789