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3. Atrial CARdiac Magnetic resonance imaging in patients with embolic stroke of unknown source without documented Atrial Fibrillation (CARM-AF): Study design and clinical protocol

Author

Kotadia, Irum D., O’Dowling, Robert, Aboagye, Akosua, Sim, Iain, O’Hare, Daniel, Lemus-Solis, José-Alonso, Roney, Caroline H., Dweck, Marc, Chiribiri, Amedeo, Plein, Sven, Sztriha, Laszlo, Scott, Paul, Harrison, James, Ramsay, Deborah, Birns, Jonathan, Somerville, Peter, Bhalla, Ajay, Niederer, Steven, O’Neill, Mark, and Williams, Steven E.

Published
2022
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4. Sodium Channel SCN3A (NaV1.3) Regulation of Human Cerebral Cortical Folding and Oral Motor Development

Author

Smith, Richard S, Kenny, Connor J, Ganesh, Vijay, Jang, Ahram, Borges-Monroy, Rebeca, Partlow, Jennifer N, Hill, R Sean, Shin, Taehwan, Chen, Allen Y, Doan, Ryan N, Anttonen, Anna-Kaisa, Ignatius, Jaakko, Medne, Livija, Bönnemann, Carsten G, Hecht, Jonathan L, Salonen, Oili, Barkovich, A James, Poduri, Annapurna, Wilke, Martina, de Wit, Marie Claire Y, Mancini, Grazia MS, Sztriha, Laszlo, Im, Kiho, Amrom, Dina, Andermann, Eva, Paetau, Ritva, Lehesjoki, Anna-Elina, Walsh, Christopher A, and Lehtinen, Maria K

Subjects
Biomedical and Clinical Sciences, Neurosciences, Pediatric, Epilepsy, Perinatal Period - Conditions Originating in Perinatal Period, Neurodegenerative, Brain Disorders, Stem Cell Research, Aetiology, Underpinning research, 2.1 Biological and endogenous factors, 1.1 Normal biological development and functioning, Neurological, Adolescent, Adult, Animals, Cell Movement, Cells, Cultured, Cerebral Cortex, Child, Child, Preschool, Female, Ferrets, HEK293 Cells, Humans, Infant, Language Development, Male, Megalencephaly, Middle Aged, NAV1.3 Voltage-Gated Sodium Channel, Pedigree, Polymicrogyria, Sodium Channels, Cortical Development, Na(V)1.1, Na(V)1.3, Oromotor, Outer Radial Glia, SCN1A, SCN3A, Speech, Voltage-Gated Sodium Channel, Psychology, Cognitive Sciences, Neurology & Neurosurgery, Biological psychology
Abstract

Channelopathies are disorders caused by abnormal ion channel function in differentiated excitable tissues. We discovered a unique neurodevelopmental channelopathy resulting from pathogenic variants in SCN3A, a gene encoding the voltage-gated sodium channel NaV1.3. Pathogenic NaV1.3 channels showed altered biophysical properties including increased persistent current. Remarkably, affected individuals showed disrupted folding (polymicrogyria) of the perisylvian cortex of the brain but did not typically exhibit epilepsy; they presented with prominent speech and oral motor dysfunction, implicating SCN3A in prenatal development of human cortical language areas. The development of this disorder parallels SCN3A expression, which we observed to be highest early in fetal cortical development in progenitor cells of the outer subventricular zone and cortical plate neurons and decreased postnatally, when SCN1A (NaV1.1) expression increased. Disrupted cerebral cortical folding and neuronal migration were recapitulated in ferrets expressing the mutant channel, underscoring the unexpected role of SCN3A in progenitor cells and migrating neurons.

Published
2018

5. Cerebral venous thrombosis after vaccination against COVID-19 in the UK: a multicentre cohort study

Author

Al-izzi, Sara, Baheerathan, Aravindhan, Banerjee, Soma, Benson, Gary, Boshier, Claudia, Buddha, Sandeep, Burley, Nathan, Cameron Smail, Ruaridh, Chandratheva, Arvind, Chudakou, Pavel, Clatworthy, Philip, Coles, Alasdair, Cox, Thomas, Dasgupta, Ranjit, Davenport, Richard, Devine, Darrell, Fenlon, Stephen, Gabriel, Carolyn, Ghatala, Rita, Hall, Claire, Hargovan, Milan, Harkness, Kirsty, Harvey, Ian, Hicken, Lucy, Howaniec, Laura, Ibnouf, Abubaker, Idrovo, Luis, Ingle, Gordon, Kyan Lee, Yong, Lang, Ailidh, McBride, Simon, McLeod, Malcolm, Medlock, Ruth, Mehta, Puja, Morrison, Ian, Muddegowda, Girish, Muzerengi, Sharon, Pang, Donald, Periyasamy, Gopinath, Preston, Gavin, Priestley, Naomi, Revicka, Lydia, Saber, Sadia, Smith, Elliott, Sorour, Youssef, Spooner, Oliver, Stone, Jon, Sztriha, Laszlo, Thambirajah, Narmathey, Thomas, Rhys, Veale, David, Wall, Jasmine, White, Sarah, White, James, Yusoff, Syarah, Zambreanu, Laura, Perry, Richard J, Tamborska, Arina, Singh, Bhagteshwar, Craven, Brian, Marigold, Richard, Arthur-Farraj, Peter, Yeo, Jing Ming, Zhang, Liqun, Hassan-Smith, Ghaniah, Jones, Matthew, Hutchcroft, Christopher, Hobson, Esther, Warcel, Dana, White, Daniel, Ferdinand, Phillip, Webb, Alastair, Solomon, Tom, Scully, Marie, Werring, David J, and Roffe, Christine

Published
2021
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6. High Prevalence of New Clinically Significant Findings in Patients With Embolic Stroke of Unknown Source Evaluated by Cardiac Magnetic Resonance Imaging

Author

Kotadia, Irum D., primary, O'Dowling, Robert, additional, Aboagye, Akosua, additional, Crawley, Richard J., additional, Bodagh, Neil, additional, Gharaviri, Ali, additional, O'Hare, Daniel, additional, Solis‐Lemus, Jose Alonso, additional, Roney, Caroline H., additional, Sim, Iain, additional, Ramsey, Deborah, additional, Newby, David, additional, Chiribiri, Amedeo, additional, Plein, Sven, additional, Sztriha, Laszlo, additional, Scott, Paul, additional, Masci, Pier‐Giorgio, additional, Harrison, James, additional, Williams, Michelle C., additional, Birns, Jonathan, additional, Somerville, Peter, additional, Bhalla, Ajay, additional, Niederer, Steven, additional, O'Neill, Mark, additional, and Williams, Steven E., additional

Published
2024
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8. Mutations in INPP5E, encoding inositol polyphosphate-5-phosphatase E, link phosphatidyl inositol signaling to the ciliopathies

Author

Bielas, Stephanie L, Silhavy, Jennifer L, Brancati, Francesco, Kisseleva, Marina V, Al-Gazali, Lihadh, Sztriha, Laszlo, Bayoumi, Riad A, Zaki, Maha S, Abdel-Aleem, Alice, Rosti, Rasim Ozgur, Kayserili, Hulya, Swistun, Dominika, Scott, Lesley C, Bertini, Enrico, Boltshauser, Eugen, Fazzi, Elisa, Travaglini, Lorena, Field, Seth J, Gayral, Stephanie, Jacoby, Monique, Schurmans, Stephane, Dallapiccola, Bruno, Majerus, Philip W, Valente, Enza Maria, and Gleeson, Joseph G

Subjects
Biochemistry and Cell Biology, Biological Sciences, Rare Diseases, Pediatric, Congenital Structural Anomalies, Brain Disorders, Acetylation, Amino Acid Substitution, Animals, Base Sequence, Brain, Case-Control Studies, Catalytic Domain, Cell Line, Chromosomes, Human, Pair 9, Cilia, Consanguinity, Culture Media, Serum-Free, Fibroblasts, Genetic Linkage, Green Fluorescent Proteins, Haplotypes, Homozygote, Humans, Hydrolysis, Mice, Mice, Transgenic, Molecular Sequence Data, Mutation, Mutation, Missense, Phosphatidylinositol 4, 5-Diphosphate, Phosphatidylinositol Phosphates, Phosphatidylinositols, Phosphoric Monoester Hydrolases, Physical Chromosome Mapping, Pigment Epithelium of Eye, Polymorphism, Single Nucleotide, Protein Structure, Tertiary, Radiography, Serum, Signal Transduction, Tubulin, Medical and Health Sciences, Developmental Biology, Agricultural biotechnology, Bioinformatics and computational biology, Genetics
Abstract

Phosphotidylinositol (PtdIns) signaling is tightly regulated both spatially and temporally by subcellularly localized PtdIns kinases and phosphatases that dynamically alter downstream signaling events. Joubert syndrome is characterized by a specific midbrain-hindbrain malformation ('molar tooth sign'), variably associated retinal dystrophy, nephronophthisis, liver fibrosis and polydactyly and is included in the newly emerging group of 'ciliopathies'. In individuals with Joubert disease genetically linked to JBTS1, we identified mutations in the INPP5E gene, encoding inositol polyphosphate-5-phosphatase E, which hydrolyzes the 5-phosphate of PtdIns(3,4,5)P3 and PtdIns(4,5)P2. Mutations clustered in the phosphatase domain and impaired 5-phosphatase activity, resulting in altered cellular PtdIns ratios. INPP5E localized to cilia in major organs affected by Joubert syndrome, and mutations promoted premature destabilization of cilia in response to stimulation. These data link PtdIns signaling to the primary cilium, a cellular structure that is becoming increasingly recognized for its role in mediating cell signals and neuronal function.

Published
2009

12. The genetic landscape and clinical spectrum of nephronophthisis and related ciliopathies

Author

Friederike Petzold, Katy Billot, Xiaoyi Chen, Charline Henry, Emilie Filhol, Yoann Martin, Marina Avramescu, Maxime Douillet, Vincent Morinière, Pauline Krug, Cécile Jeanpierre, Kalman Tory, Olivia Boyer, Anita Burgun, Aude Servais, Remi Salomon, Alexandre Benmerah, Laurence Heidet, Nicolas Garcelon, Corinne Antignac, Mohamad Zaidan, Sophie Saunier, Tania Attié-Bitach, Valerie Comier-Daire, Jean-Michel Rozet, Yaacov Frishberg, Brigitte Llanas, Michel Broyer, Nabil Mohsin, Marie-Alice Macher, Nicole Philip, Véronique Baudouin, Damian Brackman, Chantal Loirat, Marina Charbit, Maud Dehennault, Claude Guyot, Pierre Bataille, Mariet Elting, Georges Deschenes, Andrea Gropman, Geneviève Guest, Marie-France Gagnadoux, Philippe Nicoud, Pierre Cochat, Bruno Ranchin, Albert Bensman, Anne-Marie Guerrot, Bertrand Knebelmann, Ilmay Bilge, Danièle Bruno, Stéphane Burtey, Caroline Rousset Rouvière, Valérie Caudwell, Denis Morin, Hélène Dollfus, Anne Maisin, Christian Hamel, Eric Bieth, Sophie Gie, Judith Goodship, Gwenaelle Roussey, Hermine La Selve, Hubert Nivet, Lucie Bessenay, Mathilde Caillez, Jean Bernard Palcoux, Stéphane Benoît, Philippe Dubot, Marc Fila, Fabienne Giuliano, Daouya Iftene, Michele Kessler, Theresa Kwon, Anine Lahoche, Audrey Laurent, Anne-Laure Leclerc, David Milford, Thomas Neuhaus, Sylvie Odent, Philippe Eckart, Dominique Chauveau, Patrick Niaudet, Horacio Repetto, Sophie Taque, Alexandra Bruel, Alexandra Noel-Botte, Emma Allain Launay, Lisa Allard, Dany Anlicheau, Anne-Laure Adra, Arnaud Garnier, Arvind Nagra, Remy Baatard, Justine Bacchetta, Banu Sadikoglu, Christine Barnerias, Anne Barthelemy, Lina Basel, Nader Bassilios, Hedi Ben Maiz, Fatma Ben Moussa, Faïza Benmati, Romain Berthaud, Aurélia Bertholet, Dominique Blanchier, Jean Jacques Boffa, Karim Bouchireb, Ihab Bouhabel, Zakaria Boukerroucha, Guylhène Bourdat-Michel, Odile Boute, Karine Brochard, Roseline Caumes, Siham Chafai Elalaoui, Bernard Chamontin, Marie Caroline Chastang, Christine Pietrement, Christine Richer, Christophe Legendre, Karin Dahan, Fabienne Dalla-Vale, Damien Thibaudin, Maxime Dauvergne, Salandre Davourie, Martin Debeukelaer, Jean Daniel Delbet, Constantinos Deltas, Denis Graber, Nadège Devillars, Boucar Diouf, Martine Doco Fenzy, Jean-Luc André, Dominique Joly, Alan Fryer, Laetitia Albano, Elisabeth Cassuto, Aline Pincon, Ana Medeira, Annabelle Chaussenot, Anne Mensire-Marinier, Francois Bouissou, Stephane Decramer, Armand Bottani, Aurélie Hummel, Alexandre Karras, Avi Katz, Christine Azema, Bénédicte Janbon, Bernard Roussel, Claude Bonniol, Christiophe Mariat, Gérard Champion, Deborah Chantreuil, Nicolas Chassaing, Christiane Mousson, Christine Baudeau, Delphine Hafdar Cuntz, Cyril Mignot, Laurene Dehoux, Didier Lacombe, Thierry Hannedouche, Elodie Mérieau, Emmanuelle Charlin, Eric Gauthier, Florent Plasse, Stanislas Faguer, Fanny Lebas, Florence Demurger, Francesco Emma, François Cartault, Geneviève Dumont, Nathalie Godefroid, Vincent Guigonis, Sophie Hillaire, Jaap Groothoff, Jan Dudley, Noémie Jourde-Chiche, Khalil El Karoui, Saoussen Krid, Krier Coudert, Larbi Bencheick, Laurent Yver, Marie-Pierre Lavocat, Le Monies De Sagazan, Valerie Leroy, Lise Thibaudin, Liz Ingulli, Lorraine Gwanmesia, Lydie Burglen, Marie-Hélène Saïd-Menthon, Marta Carrera, Mathilde Nizon, Catherine Melander, Michel Foulard, Monique Blayo, Jacques Prinseau, Nadine Jay, Nathalie Brun, Nicolas Camille, François Nobili, Olivier Devuyst, Ouafa Ben Brahim, Paloma Parvex, Laurence Perrin Sabourin, Philippe Blanc, Philippe Vanhille, Pierre Galichon, Sophie Pierrepont, Vincent Planquois, Gwenaelle Poussard, Claire Pouteil Noble, Radia Allal, Raphaelle Bernard, Raynaud Mounet, Rémi Cahen, Renaud Touraine, Claire Rigothier, Amélie Ryckewaert, Mathieu Sacquepee, Salima El Chehadeh, Charlotte Samaille, Shuman Haq, Ari Simckes, Stéphanie Lanoiselée, Stephanie Tellier, Jean-François Subra, Sylvie Cloarec, Julie Tenenbam, Thomas Lamy, Valérie Drouin Garraud, Huguette Valette, Vanina Meyssonnier, Rosa Vargas-Poussou, Yves Snajer, Sandrine Durault, Emmanuelle Plaisier, Etienne Berard, Fadi Fakhouri, Ferielle Louillet, Paul Finielz, Michel Fischbach, Bernard Foliguet, Hélène Francois-Pradier, Florentine Garaix, Marion Gerard, Gianfranco Rizzoni, Brigitte Gilbert, Denis Glotz, Astrid Godron Dubrasquet, Jean-Pierre Grünfeld, Guillaume Bollee, Michelle Hall, Sverker Hansson, Damien Haye, Hélène Taffin, Friedhelm Hildebrandt, Maryvonne Hourmand, Hümya Kayserili, Ivan Tack, Marie Line Jacquemont, Jennifer Fabre-Teste, Cliff Kashtan, Kkoen Van Hoeck, Alexandre Klein, Yannick Knefati, Nine Knoers, Martin Konrad, Alain Lachaux, Isabelle Landru, Gilbert Landthaler, Philippe Lang, Patrick Le Pogamp, Tristan Legris, Catherine Didailler, Thierry Lobbedez, Loïc de Parscau, Lucile Pinson, Hervé Maheut, Marc Duval-Arnould, Marlène Rio, Marie-Claire Gubler, Pierre Merville, Guillaume Mestrallet, Maite Meunier, Karine Moreau, Jérôme Harambat, Graeme Morgan, Georges Mourad, Niksic Stuber, Odile Boespflug-Tanguy, Olivier Dunand, Olivier Niel, Nacera Ouali, Paolo Malvezzi, Pauline Abou Jaoude, Solenne Pelletier, Julie Peltier, M.B. Petersen, Philippe Michel, Philippe Rémy, Jean-Baptiste Philit, Valérie Pichault, Thierry Billette de Villemeur, Bernard Boudailliez, Bruno Leheup, Claire Dossier, Djamal-Dine Djeddi, Yves Berland, Bruno Hurault de Ligny, Susan Rigden, Christophe Robino, Annick Rossi, Sabine Sarnacki, Messaoud Saidani, Albane Brodin Sartorius, Elise Schäfer, Sztriha Laszlo, Marie-Christine Thouret, Angélique Thuillier-Lecouf, Howard Trachtman, Claire Trivin, Michel Tsimaratos, Rita Van Damme-Lombaerts, Marjolaine Willems, Michel Youssef, Ariane Zaloszyc, Alexis Zawodnik, and Marie-Julia Ziliotis

Subjects
Nephrology
Abstract

Nephronophthisis (NPH) is an autosomal-recessive ciliopathy representing one of the most frequent causes of kidney failure in childhood characterized by a broad clinical and genetic heterogeneity. Applied to one of the worldwide largest cohorts of patients with NPH, genetic analysis encompassing targeted and whole exome sequencing identified disease-causing variants in 600 patients from 496 families with a detection rate of 71%. Of 788 pathogenic variants, 40 known ciliopathy genes were identified. However, the majority of patients (53%) bore biallelic pathogenic variants in NPHP1. NPH-causing gene alterations affected all ciliary modules defined by structural and/or functional subdomains. Seventy six percent of these patients had progressed to kidney failure, of which 18% had an infantile form (under five years) and harbored variants affecting the Inversin compartment or intraflagellar transport complex A. Forty eight percent of patients showed a juvenile (5-15 years) and 34% a late-onset disease (over 15 years), the latter mostly carrying variants belonging to the Transition Zone module. Furthermore, while more than 85% of patients with an infantile form presented with extra-kidney manifestations, it only concerned half of juvenile and late onset cases. Eye involvement represented a predominant feature, followed by cerebellar hypoplasia and other brain abnormalities, liver and skeletal defects. The phenotypic variability was in a large part associated with mutation types, genes and corresponding ciliary modules with hypomorphic variants in ciliary genes playing a role in early steps of ciliogenesis associated with juvenile-to-late onset NPH forms. Thus, our data confirm a considerable proportion of late-onset NPH suggesting an underdiagnosis in adult chronic kidney disease.

Published
2023

13. Observer Agreement on Computed Tomography Perfusion Imaging in Acute Ischemic Stroke

Author

El-Tawil, Salwa, Mair, Grant, Huang, Xuya, Sakka, Eleni, Palmer, Jeb, Ford, Ian, Kalra, Lalit, Wardlaw, Joanna, Muir, Keith W., Adami, Alessandro, Cerase, Alfonso, Garcia, Ana, von Heijne, Anders, Peeters, Andre, von Heijne, Anders, Zini, Andrea, Carneiro, Angelo, Patterson, Chris, Roffe, Christine, Freedman, Daniel, Scoffings, Daniel, Krieger, Derk W, Mitra, Dipayan, Berge, Eivind, Cora, Elena Adela, O’Brien, Eoin, Bertholds, Eric, Murat, Ethem, Moreton, Fiona, Tan, Garryck, Potter, Gillian, Rinaldi, Giuseppe, Madigan, Jeremy, Leyon, Joe, Du Plessis, Johann, Hewitt, Jonathan, Alves, José Eduardo, Egido, Jose, Sztriha, Laszlo, Esbjoernsson, Magnus, Correia, Manuel, Griebe, Martin, Dharmasiri, Michelle, Kirmi, Olga, Geraghty, Olivia, García-Bermejo, Pablo, Sutton, Patrick, Bhogal, Pervinder, White, Philip, Ferdinand, Phillip, Anjum, Qazi, Sellar, Robin, von Kummer, Rüdiger, Andole, Sreeman, Vundavalli, Sriram, Webb, Thomas, Das, Tilak, Matys, Tomasz, Goddard, Tony, Gontu, Vamsi, Sawlani, Vijay, Puetz, Volker, and Whiteley, Will

Published
2019
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19. Prognostic indicators and outcomes of hospitalised COVID-19 patients with neurological disease: An individual patient data meta-analysis

Author

Singh, Bhagteshwar, Lant, Suzannah, Cividini, Sofia, Cattrall, Jonathan W S, Goodwin, Lynsey C, Benjamin, Laura, Michael, Benedict D, Khawaja, Ayaz, Matos, Aline de Moura Brasil, Alkeridy, Walid, Pilotto, Andrea, Lahiri, Durjoy, Rawlinson, Rebecca, Mhlanga, Sithembinkosi, Lopez, Evelyn C, Sargent, Brendan F, Somasundaran, Anushri, Tamborska, Arina, Webb, Glynn, Younas, Komal, Al Sami, Yaqub, Babu, Heavenna, Banks, Tristan, Cavallieri, Francesco, Cohen, Matthew, Davies, Emma, Dhar, Shalley, Fajardo Modol, Anna, Farooq, Hamzah, Harte, Jeffrey, Hey, Samuel, Joseph, Albert, Karthikappallil, Dileep, Kassahun, Daniel, Lipunga, Gareth, Mason, Rachel, Minton, Thoma, Mond, Gabrielle, Poxon, Joseph, Rabas, Sophie, Soothill, Germander, Zedde, Marialuisa, Yenkoyan, Konstantin, Brew, Bruce, Contini, Erika, Cysique, Lucette, Zhang, Xin, Maggi, Pietro, van Pesch, Vincent, Lechien, Jérome, Saussez, Sven, Heyse, Alex, Brito Ferreira, Maria Lúcia, Soares, Cristiane N, Elicer, Isabel, Eugenín-von Bernhardi, Laura, Ñancupil Reyes, Waleng, Yin, Rong, Azab, Mohammed A, Abd-Allah, Foad, Elkady, Ahmed, Escalard, Simon, Corvol, Jean-Christophe, Delorme, Cécile, Tattevin, Pierre, Bigaut, Kévin, Lorenz, Norbert, Hornuss, Daniel, Hosp, Jona, Rieg, Siegbert, Wagner, Dirk, Knier, Benjamin, Lingor, Paul, Winkler, Andrea Sylvia, Sharifi-Razavi, Athena, Moein, Shima T, Seyedalinaghi, Seyedahmad, Jamalimoghadamsiahkali, Saeidreza, Morassi, Mauro, Padovani, Alessandro, Giunta, Marcello, Libri, Ilenia, Beretta, Simone, Ravaglia, Sabrina, Foschi, Matteo, Calabresi, Paolo, Primiano, Guido Alessandro, Servidei, Serenella, Biagio Mercuri, Nicola, Liguori, Claudio, Pierantozzi, Mariangela, Sarmati, Loredana, Boso, Federica, Garazzino, Silvia, Mariotto, Sara, Patrick, Kimani N, Costache, Oana, Pincherle, Alexander, Klok, Frederikus A, Meza, Roger, Cabreira, Verónica, Valdoleiros, Sofia R, Oliveira, Vanessa, Kaimovsky, Igor, Guekht, Alla, Koh, Jasmine, Fernández Díaz, Eva, Barrios-López, José María, Guijarro-Castro, Cristina, Beltrán-Corbellini, Álvaro, Martínez-Poles, Javier, Diezma-Martín, Alba María, Morales-Casado, Maria Isabel, García García, Sergio, Breville, Gautier, Coen, Matteo, Uginet, Marjolaine, Bernard-Valnet, Raphaël, Du Pasquier, Renaud, Kaya, Yildiz, Abdelnour, Loay H, Rice, Claire, Morrison, Hamish, Defres, Sylviane, Huda, Saif, Enright, Noelle, Hassell, Jane, D'Anna, Lucio, Benger, Matthew, Sztriha, Laszlo, Raith, Eamon, Chinthapalli, Krishna, Nortley, Ro, Paterson, Ro, Chandratheva, Arvind, Werring, David J, Dervisevic, Samir, Harkness, Kirsty, Pinto, Ashwin, Jillella, Dinesh, Beach, Scott, Gunasekaran, Kulothungan, Rocha Ferreira Da Silva, Ivan, Nalleballe, Krishna, Santoro, Jonathan, Scullen, Tyler, Kahn, Lora, Kim, Carla Y, Thakur, Kiran T, Jain, Rajan, Umapathi, Thirugnanam, Nicholson, Timothy R, Sejvar, James J, Hodel, Eva Maria, Tudur Smith, Catrin, Solomon, Tom, Calabresi, Paolo (ORCID:0000-0003-0326-5509), Primiano, Guido, Servidei, Serenella (ORCID:0000-0001-8478-2799), Singh, Bhagteshwar, Lant, Suzannah, Cividini, Sofia, Cattrall, Jonathan W S, Goodwin, Lynsey C, Benjamin, Laura, Michael, Benedict D, Khawaja, Ayaz, Matos, Aline de Moura Brasil, Alkeridy, Walid, Pilotto, Andrea, Lahiri, Durjoy, Rawlinson, Rebecca, Mhlanga, Sithembinkosi, Lopez, Evelyn C, Sargent, Brendan F, Somasundaran, Anushri, Tamborska, Arina, Webb, Glynn, Younas, Komal, Al Sami, Yaqub, Babu, Heavenna, Banks, Tristan, Cavallieri, Francesco, Cohen, Matthew, Davies, Emma, Dhar, Shalley, Fajardo Modol, Anna, Farooq, Hamzah, Harte, Jeffrey, Hey, Samuel, Joseph, Albert, Karthikappallil, Dileep, Kassahun, Daniel, Lipunga, Gareth, Mason, Rachel, Minton, Thoma, Mond, Gabrielle, Poxon, Joseph, Rabas, Sophie, Soothill, Germander, Zedde, Marialuisa, Yenkoyan, Konstantin, Brew, Bruce, Contini, Erika, Cysique, Lucette, Zhang, Xin, Maggi, Pietro, van Pesch, Vincent, Lechien, Jérome, Saussez, Sven, Heyse, Alex, Brito Ferreira, Maria Lúcia, Soares, Cristiane N, Elicer, Isabel, Eugenín-von Bernhardi, Laura, Ñancupil Reyes, Waleng, Yin, Rong, Azab, Mohammed A, Abd-Allah, Foad, Elkady, Ahmed, Escalard, Simon, Corvol, Jean-Christophe, Delorme, Cécile, Tattevin, Pierre, Bigaut, Kévin, Lorenz, Norbert, Hornuss, Daniel, Hosp, Jona, Rieg, Siegbert, Wagner, Dirk, Knier, Benjamin, Lingor, Paul, Winkler, Andrea Sylvia, Sharifi-Razavi, Athena, Moein, Shima T, Seyedalinaghi, Seyedahmad, Jamalimoghadamsiahkali, Saeidreza, Morassi, Mauro, Padovani, Alessandro, Giunta, Marcello, Libri, Ilenia, Beretta, Simone, Ravaglia, Sabrina, Foschi, Matteo, Calabresi, Paolo, Primiano, Guido Alessandro, Servidei, Serenella, Biagio Mercuri, Nicola, Liguori, Claudio, Pierantozzi, Mariangela, Sarmati, Loredana, Boso, Federica, Garazzino, Silvia, Mariotto, Sara, Patrick, Kimani N, Costache, Oana, Pincherle, Alexander, Klok, Frederikus A, Meza, Roger, Cabreira, Verónica, Valdoleiros, Sofia R, Oliveira, Vanessa, Kaimovsky, Igor, Guekht, Alla, Koh, Jasmine, Fernández Díaz, Eva, Barrios-López, José María, Guijarro-Castro, Cristina, Beltrán-Corbellini, Álvaro, Martínez-Poles, Javier, Diezma-Martín, Alba María, Morales-Casado, Maria Isabel, García García, Sergio, Breville, Gautier, Coen, Matteo, Uginet, Marjolaine, Bernard-Valnet, Raphaël, Du Pasquier, Renaud, Kaya, Yildiz, Abdelnour, Loay H, Rice, Claire, Morrison, Hamish, Defres, Sylviane, Huda, Saif, Enright, Noelle, Hassell, Jane, D'Anna, Lucio, Benger, Matthew, Sztriha, Laszlo, Raith, Eamon, Chinthapalli, Krishna, Nortley, Ro, Paterson, Ro, Chandratheva, Arvind, Werring, David J, Dervisevic, Samir, Harkness, Kirsty, Pinto, Ashwin, Jillella, Dinesh, Beach, Scott, Gunasekaran, Kulothungan, Rocha Ferreira Da Silva, Ivan, Nalleballe, Krishna, Santoro, Jonathan, Scullen, Tyler, Kahn, Lora, Kim, Carla Y, Thakur, Kiran T, Jain, Rajan, Umapathi, Thirugnanam, Nicholson, Timothy R, Sejvar, James J, Hodel, Eva Maria, Tudur Smith, Catrin, Solomon, Tom, Calabresi, Paolo (ORCID:0000-0003-0326-5509), Primiano, Guido, and Servidei, Serenella (ORCID:0000-0001-8478-2799)

Abstract

BackgroundNeurological COVID-19 disease has been reported widely, but published studies often lack information on neurological outcomes and prognostic risk factors. We aimed to describe the spectrum of neurological disease in hospitalised COVID-19 patients; characterise clinical outcomes; and investigate factors associated with a poor outcome.MethodsWe conducted an individual patient data (IPD) meta-analysis of hospitalised patients with neurological COVID-19 disease, using standard case definitions. We invited authors of studies from the first pandemic wave, plus clinicians in the Global COVID-Neuro Network with unpublished data, to contribute. We analysed features associated with poor outcome (moderate to severe disability or death, 3 to 6 on the modified Rankin Scale) using multivariable models.ResultsWe included 83 studies (31 unpublished) providing IPD for 1979 patients with COVID-19 and acute new-onset neurological disease. Encephalopathy (978 [49%] patients) and cerebrovascular events (506 [26%]) were the most common diagnoses. Respiratory and systemic symptoms preceded neurological features in 93% of patients; one third developed neurological disease after hospital admission. A poor outcome was more common in patients with cerebrovascular events (76% [95% CI 67-82]), than encephalopathy (54% [42-65]). Intensive care use was high (38% [35-41]) overall, and also greater in the cerebrovascular patients. In the cerebrovascular, but not encephalopathic patients, risk factors for poor outcome included breathlessness on admission and elevated D-dimer. Overall, 30-day mortality was 30% [27-32]. The hazard of death was comparatively lower for patients in the WHO European region.InterpretationNeurological COVID-19 disease poses a considerable burden in terms of disease outcomes and use of hospital resources from prolonged intensive care and inpatient admission; preliminary data suggest these may differ according to WHO regions and country income levels. The different

Published
2022

20. Evolutionary Assembled cis-Regulatory Module at a Human Ciliopathy Locus

Author

Lee, Jeong Ho, Silhavy, Jennifer L., Lee, Ji Eun, Al-Gazali, Lihadh, Thomas, Sophie, Davis, Erica E., Bielas, Stephanie L., Hill, Kiley J., Iannicelli, Miriam, Brancati, Francesco, Gabriel, Stacey B., Russ, Carsten, Logan, Clare V., Sharif, Saghira Malik, Bennett, Christopher P., Abe, Masumi, Hildebrandt, Friedhelm, Diplas, Bill H., Attié-Bitach, Tania, Katsanis, Nicholas, Rajab, Anna, Koul, Roshan, Sztriha, Laszlo, Waters, Elizabeth R., Ferro-Novick, Susan, Woods, C. Geoffrey, Johnson, Colin A., Valente, Enza Maria, Zaki, Maha S., and Gleeson, Joseph G.

Published
2012
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23. Cerebral venous thrombosis after vaccination against COVID-19 in the UK: a multicentre cohort study

Author

Perry, Richard J, primary, Tamborska, Arina, additional, Singh, Bhagteshwar, additional, Craven, Brian, additional, Marigold, Richard, additional, Arthur-Farraj, Peter, additional, Yeo, Jing Ming, additional, Zhang, Liqun, additional, Hassan-Smith, Ghaniah, additional, Jones, Matthew, additional, Hutchcroft, Christopher, additional, Hobson, Esther, additional, Warcel, Dana, additional, White, Daniel, additional, Ferdinand, Phillip, additional, Webb, Alastair, additional, Solomon, Tom, additional, Scully, Marie, additional, Werring, David J, additional, Roffe, Christine, additional, Al-izzi, Sara, additional, Baheerathan, Aravindhan, additional, Banerjee, Soma, additional, Benson, Gary, additional, Boshier, Claudia, additional, Buddha, Sandeep, additional, Burley, Nathan, additional, Cameron Smail, Ruaridh, additional, Chandratheva, Arvind, additional, Chudakou, Pavel, additional, Clatworthy, Philip, additional, Coles, Alasdair, additional, Cox, Thomas, additional, Dasgupta, Ranjit, additional, Davenport, Richard, additional, Devine, Darrell, additional, Fenlon, Stephen, additional, Gabriel, Carolyn, additional, Ghatala, Rita, additional, Hall, Claire, additional, Hargovan, Milan, additional, Harkness, Kirsty, additional, Harvey, Ian, additional, Hicken, Lucy, additional, Howaniec, Laura, additional, Ibnouf, Abubaker, additional, Idrovo, Luis, additional, Ingle, Gordon, additional, Kyan Lee, Yong, additional, Lang, Ailidh, additional, McBride, Simon, additional, McLeod, Malcolm, additional, Medlock, Ruth, additional, Mehta, Puja, additional, Morrison, Ian, additional, Muddegowda, Girish, additional, Muzerengi, Sharon, additional, Pang, Donald, additional, Periyasamy, Gopinath, additional, Preston, Gavin, additional, Priestley, Naomi, additional, Revicka, Lydia, additional, Saber, Sadia, additional, Smith, Elliott, additional, Sorour, Youssef, additional, Spooner, Oliver, additional, Stone, Jon, additional, Sztriha, Laszlo, additional, Thambirajah, Narmathey, additional, Thomas, Rhys, additional, Veale, David, additional, Wall, Jasmine, additional, White, Sarah, additional, White, James, additional, Yusoff, Syarah, additional, and Zambreanu, Laura, additional

Published
2021
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27. Thrombus Distribution in Vaccine-induced Immune Thrombotic Thrombocytopenia after ChAdOx1 nCov-19 Vaccination

Author

Rogers, Priya, Walker, Ieuan, Yeung, Jason, Khan, Abeera, Gangi, Anmol, Mobashwera, Behnaz, Ayto, Robert, Shah, Ali, Hermans, Joannes, Murchison, Andrew, Benger, Matthew, Mangion, Sean Apap, Mehta, Puja R., Sztriha, Laszlo, Ghatorae, Simrit, Craven, Brian, Scully, Marie, Bray, Timothy, Hall-Craggs, Margaret, and Stempel, Conrad von

Abstract

CT, MRI, and US were used to detect occult sites of thrombosis in most patients with vaccine-induced thrombocytopenia and thrombosis after receiving their first dose of the ChAdOx1 nCov-19 vaccine.

Published
2022
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29. CEP290 mutations are frequently identified in the oculo-renal form of Joubert syndrome-related disorders

Author

Brancati, Francesco, Zablocka, Dominika, Amorini, Maria, Silhavy, Jennifer L., Bielas, Stephanie L., Travaglini, Lorena, Marsh, Sarah E., Barrano, Giudeppe, Kayserili, Hulya, Al-Gazali, Lihadh, Bertini, Enrico, Bolthauser, Eugen, D'Hooge, Marc, Fazzi, Elisa, Fenerci, Elif Y., Hennekam, Raoul C., Kiss, Andrea, Lees, Melissa M., Marco, Elysa, Phadke, Shubha R., Rigoli, Luciana, Romano, Stephane, Sztriha, Laszlo, Stuart, Bernard, Stromme, Petter, Signorini, Sabrina, Sherr, Elliott H., Salpietro, Carmelo D., Viskochil, David H., Yuksel, Adnan, Dallapiccola, Bruno, Valente, Enza Maria, and Gleeson, Joseph G.

Subjects
Gene mutations -- Research, Joubert syndrome -- Research, Biological sciences
Abstract

Comprehensive CEP290-mutation analysis is performed on nonoverlapping cohorts of Joubert syndrome-related disorder (JSRD)-affected patients with a proven molar tooth sign (MTS). The results have indicated that CEP290 mutations are frequently encountered and are largely specific to the JSRD-Senior-Loken syndrome (SLS) subtype.

Published
2007

30. Subacute Changes in N-Acetylaspartate (NAA) Following Ischemic Stroke: A Serial MR Spectroscopy Pilot Study

Author

Mazibuko, Ndaba, O'Gorman Tuura, Ruth; https://orcid.org/0000-0001-5932-7786, Sztriha, Laszlo, O'Daly, Owen, Barker, Gareth J; https://orcid.org/0000-0002-5214-7421, Williams, Steven C R, O'Sullivan, Michael, Kalra, Lalit, Mazibuko, Ndaba, O'Gorman Tuura, Ruth; https://orcid.org/0000-0001-5932-7786, Sztriha, Laszlo, O'Daly, Owen, Barker, Gareth J; https://orcid.org/0000-0002-5214-7421, Williams, Steven C R, O'Sullivan, Michael, and Kalra, Lalit

Abstract

Preservation of neuronal tissue is crucial for recovery after stroke, but studies suggest that prolonged neuronal loss occurs following acute ischaemia. This study assessed the temporal pattern of neuronal loss in subacute ischemic stroke patients using $^{1}$H magnetic resonance spectroscopy, in parallel with functional recovery at 2, 6 and 12 weeks after stroke. Specifically, we measured N-acetylaspartate (NAA), choline, myoinositol, creatine and lactate concentrations in the ipsilesional and contralesional thalamus of 15 first-ever acute ischaemic stroke patients and 15 control participants and correlated MRS concentrations with motor recovery, measured at 12 weeks using the Fugl-Meyer scale. NAA in the ipsilesional thalamus fell significantly between 2 and 12 weeks (10.0 to 7.97 mmol/L, p = 0.003), while choline, myoinositol and lactate concentrations increased (p = 0.025, p = 0.031, p = 0.001, respectively). Higher NAA concentrations in the ipsilesional thalamus at 2 and 12 weeks correlated with higher Fugl Meyer scores at 12 weeks (p = 0.004 and p = 0.006, respectively). While these results should be considered preliminary given the modest sample size, the progressive fall in NAA and late increases in choline, myoinositol and lactate may indicate progressive non-ischaemic neuronal loss, metabolically depressed neurons and/or diaschisis effects, which have a detrimental effect on motor recovery. Interventions that can potentially limit this ongoing subacute tissue damage may improve stroke recovery.

Published
2020

33. Linkage analysis in families with Joubert syndrome plus oculo-renal involvement identifies the CORS2 locus on chromosome 11p12-q13.3

Author

Keeler, Lesley C., Marsh, Sarah E., Leeflang, Esther P., Woods, Christopher G., Sztriha, Laszlo, Al-Gazali, Lihadh, Gururaj, Aithala, and Gleeson, Joseph G.

Subjects
Kidney diseases -- Health aspects, Kidney diseases -- Genetic aspects, Heredity -- Genetic aspects, Patients -- Health aspects, Patients -- Genetic aspects, Patients -- Case studies, Chromosome mapping -- Genetic aspects, Human chromosome abnormalities -- Genetic aspects, Human chromosome abnormalities -- Causes of, Human chromosome abnormalities -- Health aspects, Human genetics -- Research, Joubert syndrome, Biological sciences
Published
2003

36. Clinical, neuroradiological and genetic findings in pontocerebellar hypoplasia

Author

Namavar, Yasmin, Barth, Peter G., Kasher, Paul R., van Ruissen, Fred, Brockmann, Knut, Bernert, Günther, Writzl, Karin, Ventura, Karen, Cheng, Edith Y., Ferriero, Donna M., Basel-Vanagaite, Lina, Eggens, Veerle R. C., Krägeloh-Mann, Ingeborg, De Meirleir, Linda, King, Mary, Graham, John M., Jr, von Moers, Arpad, Knoers, Nine, Sztriha, Laszlo, Korinthenberg, Rudolf, Consortium, PCH, Dobyns, William B., Baas, Frank, and Poll-The, Bwee Tien

Published
2011
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39. Congenital insensitivity to pain with anhidrosis: novel mutations in the TRKA (NTRK1) gene encoding a high-affinity receptor for nerve growth factor

Author

Mardy, Sek, Miura, Yuichi, Endo, Fumio, Matsuda, Ichiro, Sztriha, Laszlo, Frossard, Philippe, Moosa, Allie, Ismail, Essam A.R., Macaya, Alfons, Andria, Generoso, Toscano, Ennio, Gibson, William, Canadian writer, Graham, Gail E., and Indo, Yasuhiro

Subjects
Anhidrosis -- Genetic aspects, Nerve growth factor -- Physiological aspects, Peripheral nerve diseases -- Genetic aspects, Pain -- Physiological aspects, Biological sciences
Abstract

Congenital insensitivity to pain with anhidrosis (CIPA) is associated with mutations in the TRKA gene, which encodes a high-affinity tyrosine kinase receptor for nerve growth factor. Eleven new TRKA mutations have been identified in seven families affected with CIPA. The families are from Kuwait, Italy, United Arab Emirates, Spain and Canada. The mutations occur in both the extracellular domain and the intracellular signal-transduction domain of the gene.

Published
1999

42. Impact of Evidence‐Based Stroke Care on Patient Outcomes: A Multilevel Analysis of an International Study

Author

Muñoz Venturelli, Paula, primary, Li, Xian, additional, Middleton, Sandy, additional, Watkins, Caroline, additional, Lavados, Pablo M., additional, Olavarría, Verónica V., additional, Brunser, Alejandro, additional, Pontes‐Neto, Octavio, additional, Santos, Taiza E. G., additional, Arima, Hisatomi, additional, Billot, Laurent, additional, Hackett, Maree L., additional, Song, Lily, additional, Robinson, Thompson, additional, Anderson, Craig S., additional, Mead, Gillian, additional, De Silva, H. Asita, additional, Pandian, Jeyaraj D., additional, Lin, Ruey‐Tay, additional, Lee, Tsong‐Hai, additional, Cui, Liying, additional, Peng, Bin, additional, Heritier, Stephane, additional, Lindley, Richard, additional, Jan, Stephen, additional, Boaden, Elizabeth, additional, Chen, Christopher P. L. H., additional, Forster, Anne, additional, Woodward, Mark, additional, Rogers, Kris, additional, Scaria, Anish, additional, Lim, Joyce Y., additional, Espinosa, Natalie, additional, McEvoy, Lucy, additional, Blackburn, Lee, additional, Richtering, Sarah S., additional, You, Shoujiang, additional, Ladwig, Simon, additional, Merritt, Gabrielle P., additional, Thomsen, Bryce, additional, Jenson, Kerry, additional, Gordon, Penelope, additional, Nguyen, Dennis Ryan, additional, Quan, Wei Wei, additional, Lo, Tessa Pei‐Yi, additional, Lim, Jonathan, additional, Goh, Selena, additional, Liu, Leibo, additional, Baig, Mirza Ahmad, additional, Singh, Ravider, additional, Donnelly, Paul, additional, Armenis, Manuela, additional, Zyl, Marna Van, additional, Monaghan, Helen, additional, Smith, Phillipa, additional, Glass, Parisa, additional, Zhou, Fanli, additional, Shen, Yun, additional, Lei, Li, additional, Li, Di, additional, Zhang, Ting, additional, Zhang, Xiaoyan, additional, Peng, Yun, additional, Feng, Lingling, additional, Ye, Zhiping, additional, Gregory, Philip, additional, Pandain, Jeyaraj D., additional, Arora, Deepti, additional, Gonzalez, Francisca, additional, Portales, Bernardita, additional, Santos‐Pontelli, Taiza, additional, Rimoli, Brunna, additional, Braga, Monica, additional, Vidal, Carolina, additional, Benadof, Dafna, additional, Rivas, Rodrigo J., additional, Carvallo, Laura, additional, Carvallo, Pamela, additional, Miranda, Rubia, additional, Pileggi, Brunna, additional, de Silva, H. Asita, additional, Weerawardena, Shalomi, additional, Jeevarajah, Thanushanthan, additional, Dharmawardena, Devaki, additional, Ranasinghe, Dumindi, additional, Dharshana, Matheesha, additional, Nandadeva, Nilesh, additional, Nawarathna, Savithri, additional, Yin, Jiu‐Haw, additional, Yeh, Shoou‐Jeng, additional, Ma, Ruei‐Jen, additional, Watkins, Caroline L., additional, Whiteley, Gemma, additional, Forshaw, Denise, additional, Lightbody, Catherine Elizabeth, additional, Cox, Joanna, additional, Fitzgerald, Jane, additional, Heney, John F., additional, Byfield, Helen, additional, Finley, Simone, additional, Tyrer, Hayley E., additional, Bruce, Carole, additional, Gibbon, Alison, additional, Jones, Brett, additional, Siracusa, Emma, additional, Gowda, Koushik, additional, Cowans, Shahla, additional, Forman, Briana, additional, Jacob, Sherin, additional, Caprecho, Kristine, additional, Khatri, Roshan, additional, Wan, Po Yi, additional, Lopez, Maria, additional, Vanika, Sifiso, additional, Bleeker, Wilhelmina, additional, Ireland, Marinka, additional, Jala, Sheila, additional, Day, Susan, additional, Ha, Eric, additional, Krause, Martin, additional, Passer, Melissa, additional, Giaccari, Sarah, additional, Burkolter, Nadia, additional, Braithwaite, Michael, additional, Tastula, Kylie, additional, Ghia, Darshan, additional, Musuka, Tapuwa, additional, Alvaro, Anthony, additional, Edmonds, Gillian, additional, O'Loughin, Nicole, additional, Phair, Rebecca, additional, Kaoutal, Joanne, additional, Blacker, David J., additional, Saint, Belinda L, additional, Parrey, Kim, additional, Coad, Michelle, additional, Kinchington, Matthew, additional, Senanayake, Nishantha, additional, Alaban, Johanna, additional, Kuehne, Irma, additional, Camilo, Millene, additional, Libardi, Milena, additional, Martins, Sheila, additional, Carlos, Batista, additional, Martins, Magda, additional, Carbonera, Leonardo, additional, Almeida, Andrea, additional, Kelin, Martin, additional, Pauli, Carla, additional, Lunardi, Mariana, additional, Silveira, Luciane, additional, Chagas, Olga, additional, Souza, Daily, additional, Braga, Gabriel, additional, Ribeiro, Priscila, additional, Luvizutto, Gustavo, additional, Polin, Marcia, additional, Winckler, Fernanda, additional, Liu, Jinfeng, additional, Wang, Zhenjiang, additional, Wang, Huibing, additional, Lin, Suying, additional, Dong, Jing, additional, Zhou, Junshan, additional, Qin, Suping, additional, Zhan, Hui, additional, Xue, Yongquan, additional, Tian, Dong, additional, Yang, Dan, additional, Yin, Yan, additional, Li, He, additional, Geng, Changming, additional, Liu, Jieyi, additional, Jiang, Xiaolin, additional, Wu, Yujun, additional, Sun, Wei, additional, Yu, Bingqi, additional, Guan, Yanmei, additional, Wang, Qin, additional, Wei, Bo, additional, Wang, Huirong, additional, Wang, Yan, additional, Tai, Liwen, additional, Zhang, Wenchao, additional, Zhao, Weili, additional, Wang, Xueying, additional, Li, Guoli, additional, Ni, Zhiming, additional, Guo, Fudong, additional, Cen, Lan, additional, Lu, Jun, additional, Chen, Zheng, additional, Yin, Guoming, additional, Wang, Yingchun, additional, Zheng, Jiping, additional, Zhou, Zhimin, additional, Wang, Hongquan, additional, Zou, Renlin, additional, Xue, Bin, additional, Li, Airu, additional, Guo, Jing, additional, Guo, Ying, additional, Jiang, Xingguo, additional, Tan, Xiuge, additional, Zhang, Chunpeng, additional, Shao, Bei, additional, Niu, Xiaoting, additional, Liu, Chunfeng, additional, Chen, Dongqin, additional, Liang, Ping, additional, Zhang, Xia, additional, Zhang, Chunqing, additional, Gong, Wenjie, additional, Huang, Zhichao, additional, Liu, Huihui, additional, Huang, Junying, additional, Shi, Rongfang, additional, Wang, Cuilan, additional, Liu, Ying, additional, Wang, Jinchao, additional, Wu, Guojun, additional, Gao, Zhihong, additional, Lin, Qunli, additional, Xu, Cong, additional, Zheng, Huile, additional, Ye, Xinghai, additional, Jin, Xiaoqiong, additional, Liu, Junyan, additional, Cao, Xiaoyun, additional, Zhang, Yan, additional, Wang, Jinyang, additional, Xu, Yuzhu, additional, Li, Yan, additional, Ma, Xin, additional, Kong, Qi, additional, Hao, Yanlei, additional, Qiao, Baojun, additional, Yan, Hui, additional, Huang, Zhiyong, additional, Chang, Baoqiang, additional, Yan, Jinjin, additional, Liao, Pinjun, additional, Zhang, Wei, additional, Liu, Ling, additional, Zhu, Tingting, additional, Liu, Xuehui, additional, Li, Yongping, additional, Dong, Ruifang, additional, Chen, Miao, additional, Ge, Xiaoli, additional, Wang, Hairong, additional, Dai, Lihua, additional, Liu, Jiafu, additional, Wang, Shixia, additional, Du, Jihui, additional, Song, Aixiu, additional, Li, Yunhai, additional, Feng, Jie, additional, Yu, Cheng, additional, Feng, Honglin, additional, Sun, Xiaojia, additional, Sun, Ruihong, additional, Liu, Weisong, additional, Liu, Jianfeng, additional, Lu, Xuesheng, additional, Chen, Enzhuo, additional, Gao, Wei, additional, Liu, Hui, additional, Wang, Heping, additional, Wang, Yanxia, additional, Song, Juan, additional, Liu, Dongqi, additional, Du, Wenhui, additional, Li, Guixia, additional, Li, Cuiling, additional, Liang, Yanling, additional, Cai, Xuekun, additional, Zhang, Jinli, additional, Tao, Xiaowei, additional, An, Pingshun, additional, Tang, Ranran, additional, Qin, Xu, additional, Wang, Yingling, additional, Zhang, Wenjun, additional, Ma, Rong, additional, Huang, Xiaoqiong, additional, Liu, Yonglin, additional, Wang, Yazhi, additional, Fan, Ping, additional, Yang, Hailan, additional, Feng, Lianyuan, additional, Zhi, Jianxia, additional, Zhang, Jiewen, additional, Zhou, Yao, additional, Wu, Danhong, additional, He, Haiyan, additional, Chen, Xiaohong, additional, Hou, Yongge, additional, Su, Xiaohui, additional, Fan, Siyuan, additional, Suárez, Luis, additional, de Dios Polanco, Juan, additional, Sotomayor, Patricio, additional, Urzúa, Ricardo, additional, Urrutia, Daniela, additional, Conejan, Nathalie, additional, Escobar, Arturo, additional, Gonzalez, Monica, additional, Vargas, Danisa, additional, Constante, Angel, additional, Vásquez, Erika, additional, Godoy, Elizabeth, additional, Figueroa, Christian, additional, Martin, Vanesa San, additional, Vidal, Nataly, additional, Muñoz, Madeleyn, additional, Spencer, María, additional, Almeida, Juan, additional, Acosta, Ignacio, additional, Guerrero, Rodrigo, additional, Lozano, Prudencio, additional, Aguayo, Camila, additional, Pizarro, Jimena, additional, Soto, Alvaro, additional, Bonilla, Flor, additional, García, Pía, additional, Castillo, Carolina Del, additional, Grandjean, Marcela, additional, Von Johnn, Alexis, additional, Gutierrez, Ignacio, additional, Rivero, Francisca, additional, López, Ignacio, additional, Silva, Federico, additional, Pachón, Marlen, additional, Mendoza, José, additional, Pabón, Alexander, additional, Kate, Mahesh, additional, Akhtar, Naushad, additional, Narang, Gibbsdeep S., additional, Deepak, Ashish, additional, Huded, Vikram, additional, De Sowza, Romnesh, additional, Sigamani, Alben, additional, Rajendran, Karthikeyan, additional, Vishwanath, Anisha, additional, K, Anusha, additional, Kumaravelu, Somasundaram, additional, Rahamath, Syed, additional, Kannneganti, Sandeep, additional, Khurana, Dheeraj, additional, Katoch, Cheena, additional, Kaur, Taranpreet, additional, Karadan, Ummer, additional, Kuriakose, Anu, additional, John, Jaison, additional, Basheer, Mumthaz, additional, Gunasekara, Harsha Hemal, additional, De Silva, Gamlath Chandima Udeni, additional, Ubeywickrama, Peetagam Harshi Lakmali, additional, Silva, Kavisha Chathumali, additional, De Silva, Eshani Anuradha, additional, Ranawaka, Udaya, additional, Mettananda, Chamila, additional, Nanayakkara, Yamuna, additional, Mendis, Tharini, additional, Fernando, Gayathri, additional, Imthikab, Ahamed, additional, Pieris, Kandula, additional, Gunatilake, Saman B., additional, Madanayake, Pamuditha M. W., additional, Paranavitane, Shiran A., additional, Senanayake, Bimsara, additional, Vishwanathan, Vaidhehi, additional, Sivapalan, Maathury, additional, Murage, Ruwangi U., additional, Chandradeva, Uthpala, additional, Liu, Yao‐Hua, additional, Lin, Chih‐Lung, additional, Lin, Hsiu‐Fen, additional, Liu, Kuan‐Ting, additional, Chen, Chien‐Fu, additional, Wu, Meng‐Ni, additional, Tsai, Su‐Hua, additional, Chen, Chi‐Ching, additional, Chen, Lan‐Yi, additional, Chang, Chien‐Hung, additional, Chang, Yeu‐Jhy, additional, Huang, Kuo‐Lun, additional, Chang, Ting‐Yu, additional, Liu, Chi‐Hung, additional, Seak, Chen‐June, additional, Lin, Yu‐Li, additional, Luo, Jia‐Yi, additional, Yang, Hsiao‐Ying, additional, Wang, Ching‐Yi, additional, Chan, Lung, additional, Hu, Chaur‐Jong, additional, Chi, Nai‐Fang, additional, Wu, Dean, additional, Huang, Yao‐Hsien, additional, Kuan, Yi‐Chun, additional, Hong, Chien‐Tai, additional, Chen, Yi‐Chun, additional, Sun, Yu, additional, Lin, Cheng‐Huai, additional, Lu, Chien‐Jung, additional, Chu, Hai‐Jui, additional, Lo, Yi‐Chia, additional, Chang, Wen‐Hui, additional, Lin, Wan‐Jung, additional, Su, Hui‐Chen, additional, Lin, Tien‐Yu, additional, Cho, Chi‐Hsuan, additional, Lu, Shu‐Lan, additional, Hsueh, Ya‐Fang, additional, Lai, Ching‐Yi, additional, Jarrett, David, additional, James, Claire, additional, Valentine, Stacey, additional, Whistler, Clare, additional, Butler, Rebecca, additional, Browning, Simone, additional, Watchurst, Caroline, additional, Erande, Renuka, additional, Elliott, Emma, additional, Patel, Krishna, additional, Brezitski, Maria, additional, Hogan, Caroline, additional, Banaras, Asra, additional, Crook, Lucinda, additional, Ahmed, Rashidat, additional, Potter, Lindsay, additional, Laird, Rosie, additional, Clarke, Natasha, additional, Loosemore, Alison, additional, Godber, J., additional, Gawned, Sara, additional, Hamilton, K. A., additional, Jones, Rachael, additional, Guyler, Paul, additional, Tysoe, Sharon, additional, Prabakaran, Raji, additional, Shah, Sweni, additional, Calver, Joanne, additional, Sztriha, Laszlo K., additional, Fitzpatrick, Maria, additional, Drysdale, Stephanie, additional, Aeron‐Thomas, John, additional, McKenzie, Emma, additional, Chitando, Belinda, additional, Willcoxson, Paul, additional, Iveson, Elizabeth, additional, Wanklyn, Peter, additional, Dyer, Natasha, additional, Keeling, Michael, additional, Rodriguez, Romina, additional, Elliott, Kerry, additional, Porteous, Mia, additional, O'Neill, Mark, additional, Orme, Sheridan, additional, Richardson, Carla, additional, Tomlinson, Janet, additional, Hawkins, Suzanne, additional, Bester, Delia, additional, Jeffs, Carol, additional, Howard, Joanne, additional, Brown, Pauline, additional, Ward, Deborah, additional, Turfrey, Jennifer, additional, Raybould, Leanne, additional, Bates, Allison, additional, O'Connell, Sue, additional, O'Connor, Margaret, additional, Williams, Samantha, additional, Emsley, Hedley C. A., additional, McLoughlin, Alison, additional, Raj, Sonia, additional, Gregary, Bindu, additional, Doyle, Donna, additional, Courtauld, G. M., additional, Schofield, C., additional, Lucas, L., additional, Lydon, A., additional, James, A., additional, Saastamoinen, Kari, additional, Howaniec, Laura, additional, Daboo, Premchand, additional, Ali, Ali N., additional, Richards, Emma, additional, Howe, Joanne, additional, Kamara, Christine, additional, Stocks, Kathy, additional, Lindert, Ralf, additional, Day, Diana J., additional, Finlay, Sarah, additional, McGee, Joanne, additional, Mitchell, Jennifer, additional, Amis, Elaine, additional, Macey, Rosemary, additional, Tauro, Suzanne, additional, Henry, Lauren, additional, Cuddy, Sarah, additional, Steele, Andrew, additional, Mullen, Kerry, additional, Kirker, Sarah, additional, Bhattad, Murudappa, additional, Carpenter, Michael, additional, Datta, Prabal, additional, Needle, Ann, additional, Jackson, Linda, additional, Ball, Julie, additional, Beckitt, Rosie, additional, Chivers, Nicola, additional, Bowring, Angela, additional, Eddy, Sara, additional, Thorpe, Kevin, additional, Keenan, Samantha, additional, Griffin, Alison, additional, Maguire, Stuart, additional, Patterson, Chris, additional, Ramadan, Hawraman, additional, Bellfield, Ruth, additional, Hooley, Michaela, additional, Stewart, Kelvin, additional, Williams, Lucy, additional, Gurney, Cara, additional, Oliver, Deborah, additional, Gardiner, Maria, additional, Grayland, Sarah, additional, Bhandari, Mohit, additional, Collas, David M., additional, Adesina, Tolu, additional, Sundayi, Saul, additional, Harvey, Ruth, additional, Pope, Emma, additional, Lam, Audrey, additional, Walker, Elaine, additional, Merrill, Colin, additional, Banerjee, Soma, additional, Harvey, Kirsten Hannah, additional, Mashate, Sheila, additional, Wilding, Peter, additional, Johnson, Linda, additional, Namushi, Robert, additional, Jacob, Patricia, additional, Andole, Sreeman, additional, Dunne, Karen, additional, Gadapa, Naveen, additional, King, Sam, additional, Siliuzaite, Sonata, additional, Dealing, Sharon, additional, Attwood, Karen, additional, Woods, Annette, additional, Sandhu, Banher, additional, Mamun, Maam, additional, Mahmood, Afzal, additional, Jones, June, additional, Ojo, Abimbola, additional, Carter‐Evans, Denise, additional, Liverpool, Royal, additional, Manoj, Aravind, additional, Fletcher, Glyn, additional, Lopez, Paula, additional, Greig, Jill, additional, Robinson, Matthew, additional, Jones, Sarah, additional, Jones, Lorinda, additional, West, Claire, additional, Tench, Helen, additional, Gascoyne, Rachel, additional, Whileman, Amanda, additional, Hall, Emily, additional, Wright, Stephanie, additional, Toms, Julie, additional, Phiri, Duke, additional, Sethuraman, Sakthivel, additional, Mohammed, Niaz, additional, Justin, Frances, additional, Tate, Margaret Louise, additional, Chauhan, Meena, additional, Haider, Syed I., additional, Nallasivan, Arumugam, additional, Webster, Tim, additional, Leason, Sandra, additional, Seagrave, Samantha, additional, Hospital, Peterborough City, additional, Owksu‐Agyei, Peter, additional, Temple, Natalie, additional, Butterworth‐Cowin, Nicola, additional, Magezi, Frederick, additional, Infirmary, Leicester Royal, additional, Khan, Shagufta, additional, Stephens, Claire, additional, Mistri, Amit, additional, Murphy, Aidan, additional, Lam, Manda, additional, Underwood, Paul, additional, Thompson, Catherine, additional, Buckley, Clare, additional, Wood, Diane, additional, Board, Sarah, additional, Howard, Linda, additional, Ahmed, Ashraf, additional, Oates, Bethany, additional, Leonard, Sara, additional, Hospital, Royal Bournemouth, additional, Bournemouth, Royal, additional, Thavanesan, Kamy, additional, Dharmasiri, Michelle, additional, Logianathan, Sathyabama, additional, Ovington, Catherine, additional, Hann, Gail, additional, Cox, Chantel, additional, Hospital, Craigavon Area, additional, Health, Southern, additional, Trust, Social Care, additional, Douglas, Catherine, additional, Goggin, Michael, additional, Fearon, Patricia, additional, Gilpin, Sara, additional, O'Hagan, Margaret, additional, Hospital, Pilgrim, additional, Hardwick, Anne, additional, Netherton, Kimberley, additional, Quinn, Judith, additional, Bozkaplan, Tulu, additional, and Jose, Josin, additional

Published
2019
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45. Sodium Channel SCN3A (NaV1.3) Regulation of Human Cerebral Cortical Folding and Oral Motor Development

Author

Smith, Richard R.S., Kenny, Connor C.J., Ganesh, Vijay, Jang, Ahram, Borges-Monroy, Rebeca, Partlow, Jennifer J.N., Hill, Robert Sean, Shin, Taehwan, Chen, Allen A.Y., Doan, Ryan R.N., Anttonen, Anna-Kaisa, Ignatius, Jaakko, Medne, Livija, Bönnemann, Carsten C.G., Hecht, Jonathan J.L., Salonen, Oili, Barkovich, Anthony James, Poduri, Annapurna, Wilke, Martina, de Wit, Marie Claire Yvette, Mancini, Grazia Maria Simonetta, Sztriha, Laszlo, Im, Kiho, Amrom, Dina, Andermann, Eva, Paetau, Ritva, Lehesjoki, Anna-Elina, Walsh, Christopher C.A., Lehtinen, Maria M.K., Smith, Richard R.S., Kenny, Connor C.J., Ganesh, Vijay, Jang, Ahram, Borges-Monroy, Rebeca, Partlow, Jennifer J.N., Hill, Robert Sean, Shin, Taehwan, Chen, Allen A.Y., Doan, Ryan R.N., Anttonen, Anna-Kaisa, Ignatius, Jaakko, Medne, Livija, Bönnemann, Carsten C.G., Hecht, Jonathan J.L., Salonen, Oili, Barkovich, Anthony James, Poduri, Annapurna, Wilke, Martina, de Wit, Marie Claire Yvette, Mancini, Grazia Maria Simonetta, Sztriha, Laszlo, Im, Kiho, Amrom, Dina, Andermann, Eva, Paetau, Ritva, Lehesjoki, Anna-Elina, Walsh, Christopher C.A., and Lehtinen, Maria M.K.

Abstract

Channelopathies are disorders caused by abnormal ion channel function in differentiated excitable tissues. We discovered a unique neurodevelopmental channelopathy resulting from pathogenic variants in SCN3A, a gene encoding the voltage-gated sodium channel NaV1.3. Pathogenic NaV1.3 channels showed altered biophysical properties including increased persistent current. Remarkably, affected individuals showed disrupted folding (polymicrogyria) of the perisylvian cortex of the brain but did not typically exhibit epilepsy; they presented with prominent speech and oral motor dysfunction, implicating SCN3A in prenatal development of human cortical language areas. The development of this disorder parallels SCN3A expression, which we observed to be highest early in fetal cortical development in progenitor cells of the outer subventricular zone and cortical plate neurons and decreased postnatally, when SCN1A (NaV1.1) expression increased. Disrupted cerebral cortical folding and neuronal migration were recapitulated in ferrets expressing the mutant channel, underscoring the unexpected role of SCN3A in progenitor cells and migrating neurons. Smith et al. define a role for sodium channel SCN3A (NaV1.3) in the developing human cerebral cortex, as well as a cortical malformation that can result from NaV1.3 dysfunction., SCOPUS: ar.j, info:eu-repo/semantics/published

Published
2018

46. HAEMORRHAGIC AND ISCHAEMIC STROKE IN CARDIAC ANGIOSARCOMA

Author

Sztriha, Laszlo

Abstract

Cardiac tumours are uncommon with primary malignant cardiac tumours being extremely rare. They are associated with high risk of embolic stoke. We describe a patient with an intracranial haemorrhage and then right MCA infarct who was subsequently diagnosed with a primary cardiac angiosarcoma.A 42 year old female presented with a 3 week history of malaise and breathlessness. Her past medical history was breast carcinoma for which she underwent curative treatment . Examination and vital signs were initially normal. She developed right sided hemiparesis, CT brain showed large left hemispheric intracerebral haemorrhage which required neuro surgical evacuation. There was no aneurysm or other vascular abnormality demonstrated on MR angiogram. MRI brain was performed which showed no evidence of brain metastasis but right MCA territory infarct. A left atrial mass was demonstrated on echocardiogram. Treatment dose heparin was commenced and she underwent surgical resection of the left atrial mass. Tumour histology revealed epithelioid angiosarcoma. She made a very poor neurological recovery and was discharged home with palliative care support.The location of the tumour in the left atrium was unusual for a cardiac angiosarcoma and associated with very high risk of emboli. The mechanism of ICH in this case was not clear with no cerebral metastasis or aneurysm demonstrated on neuroimaging, the patient was too unwell to undergo digital subtraction angiography.Cardiac tumours are a rare but important cause of embolic stroke in young patients and should be considered in the presence of unexplained constitutional or cardiac symptoms.

Published
2017

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