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Overlapping cortical malformations and mutations in TUBB2B and TUBA1A
Cushion, Thomas D., Dobyns, William B., Mullins, Jonathan G. L., Stoodley, Neil, Chung, Seo-Kyung, Fry, Andrew E., Hehr, Ute, Gunny, Roxana, Aylsworth, Arthur S., Prabhakar, Prab, Uyanik, Gökhan, Rankin, Julia, Rees, Mark I., Pilz, Daniela T.
Published in Brain (London, England : 1878) (01.02.2013)
Published in Brain (London, England : 1878) (01.02.2013)
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Journal Article
The clinical spectrum and natural history of early-onset diseases due to DNA polymerase gamma mutations
Hikmat, Omar, Tzoulis, Charalampos, Chong, Wui K, Chentouf, Latifa, Klingenberg, Claus, Fratter, Carl, Carr, Lucinda J, Prabhakar, Prab, Kumaraguru, Nandhini, Gissen, Paul, Cross, J Helen, Jacques, Thomas S, Taanman, Jan-Willem, Bindoff, Laurence A, Rahman, Shamima
Published in Genetics in medicine (01.11.2017)
Published in Genetics in medicine (01.11.2017)
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Journal Article
Clinical Neuroimaging Features and Outcome in Molybdenum Cofactor Deficiency
Vijayakumar, Kayal, Gunny, Rox, Grunewald, Stephanie, Carr, Lucinda, Chong, Kling W., DeVile, Catherine, Robinson, Robert, McSweeney, Niamh, Prabhakar, Prab
Published in Pediatric neurology (01.10.2011)
Published in Pediatric neurology (01.10.2011)
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Journal Article
Germline homozygous missense DEPDC5 variants cause severe refractory early-onset epilepsy, macrocephaly and bilateral polymicrogyria
Ververi, Athina, Zagaglia, Sara, Menzies, Lara, Baptista, Julia, Caswell, Richard, Baulac, Stephanie, Ellard, Sian, Lynch, Sally, Jacques, Thomas S, Chawla, Maninder Singh, Heier, Martin, Kulseth, Mari Ann, Mero, Inger-Lise, Våtevik, Anne Katrine, Kraoua, Ichraf, Ben Rhouma, Hanene, Ben Younes, Thouraya, Miladi, Zouhour, Ben Youssef Turki, Ilhem, Jones, Wendy D, Clement, Emma, Eltze, Christin, Mankad, Kshitij, Merve, Ashirwad, Parker, Jennifer, Hoskins, Bethan, Pressler, Ronit, Sudhakar, Sniya, DeVile, Catherine, Homfray, Tessa, Kaliakatsos, Marios, Robinson, Robert, Keim, Sara Margrete Bøen, Habibi, Imen, Reymond, Alexandre, Sisodiya, Sanjay M, Hurst, Jane A
Published in Human molecular genetics (27.01.2023)
Published in Human molecular genetics (27.01.2023)
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Journal Article
Headache in Children and Adolescents: A Focus on Uncommon Headache Disorders
Abu-Arafeh, Ishaq, Valeriani, Massimiliano, Prabhakar, Prab
Published in Indian pediatrics (01.08.2021)
Published in Indian pediatrics (01.08.2021)
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Journal Article
Mutations in ADAR1 cause Aicardi-Goutières syndrome associated with a type I interferon signature
Rice, Gillian I, Kasher, Paul R, Forte, Gabriella M A, Mannion, Niamh M, Greenwood, Sam M, Szynkiewicz, Marcin, Dickerson, Jonathan E, Bhaskar, Sanjeev S, Zampini, Massimiliano, Briggs, Tracy A, Jenkinson, Emma M, Bacino, Carlos A, Battini, Roberta, Bertini, Enrico, Brogan, Paul A, Brueton, Louise A, Carpanelli, Marialuisa, De Laet, Corinne, de Lonlay, Pascale, del Toro, Mireia, Desguerre, Isabelle, Fazzi, Elisa, Garcia-Cazorla, Àngels, Heiberg, Arvid, Kawaguchi, Masakazu, Kumar, Ram, Lin, Jean-Pierre S-M, Lourenco, Charles M, Male, Alison M, Marques, Wilson, Mignot, Cyril, Olivieri, Ivana, Orcesi, Simona, Prabhakar, Prab, Rasmussen, Magnhild, Robinson, Robert A, Rozenberg, Flore, Schmidt, Johanna L, Steindl, Katharina, Tan, Tiong Y, van der Merwe, William G, Vanderver, Adeline, Vassallo, Grace, Wakeling, Emma L, Wassmer, Evangeline, Whittaker, Elizabeth, Livingston, John H, Lebon, Pierre, Suzuki, Tamio, McLaughlin, Paul J, Keegan, Liam P, O'Connell, Mary A, Lovell, Simon C, Crow, Yanick J
Published in Nature genetics (01.11.2012)
Published in Nature genetics (01.11.2012)
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Journal Article
Consensus recommendations for the assessment and management of idiopathic intracranial hypertension in children and young people
Amin, Sam, Monaghan, Marie, Forrest, Katharine, Harijan, Pooja, Mehta, Vishal, Moran, Matthew, Mukhtyar, Bina, Muthusamy, Brinda, Parker, Alasdair, Prabhakar, Prab, Whitehouse, William P, Krishnakumar, Deepa
Published in Archives of disease in childhood (01.08.2024)
Published in Archives of disease in childhood (01.08.2024)
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Journal Article
Post-licensure observational safety study after meningococcal B vaccine 4CMenB (Bexsero) vaccination within the routine UK immunisation program
Hall, Gillian C., Douglas, Ian, Heath, Paul T., Prabhakar, Prab, Rosillon, Dominique, Khan, Javeed, Abbing-Karahagopian, Victoria
Published in Vaccine (02.06.2021)
Published in Vaccine (02.06.2021)
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Journal Article
397 Delphi consensus for the UK guideline for management and surveillance of Idiopathic Intracranial Hypertension in children and young people
Amin, Sam, Monaghan, Marie, Moran, Matthew, Forrest, Katharine, Harijan, Pooja, Mehta, Vishal, Mukhtyar, Bina, Muthusamy, Brinda, Parker, Alasdair, Prabhakar, Prab, Whitehouse, William, Krishnakumar, Deepa
Published in Archives of disease in childhood (01.08.2022)
Published in Archives of disease in childhood (01.08.2022)
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Journal Article
EPG5 -related Vici syndrome: a paradigm of neurodevelopmental disorders with defective autophagy
Byrne, Susan, Jansen, Lara, U-King-Im, Jean-Marie, Siddiqui, Ata, Lidov, Hart G. W., Bodi, Istvan, Smith, Luke, Mein, Rachael, Cullup, Thomas, Dionisi-Vici, Carlo, Al-Gazali, Lihadh, Al-Owain, Mohammed, Bruwer, Zandre, Al Thihli, Khalid, El-Garhy, Rana, Flanigan, Kevin M., Manickam, Kandamurugu, Zmuda, Erik, Banks, Wesley, Gershoni-Baruch, Ruth, Mandel, Hanna, Dagan, Efrat, Raas-Rothschild, Annick, Barash, Hila, Filloux, Francis, Creel, Donnell, Harris, Michael, Hamosh, Ada, Kölker, Stefan, Ebrahimi-Fakhari, Darius, Hoffmann, Georg F., Manchester, David, Boyer, Philip J., Manzur, Adnan Y., Lourenco, Charles Marques, Pilz, Daniela T., Kamath, Arveen, Prabhakar, Prab, Rao, Vamshi K., Rogers, R. Curtis, Ryan, Monique M., Brown, Natasha J., McLean, Catriona A., Said, Edith, Schara, Ulrike, Stein, Anja, Sewry, Caroline, Travan, Laura, Wijburg, Frits A., Zenker, Martin, Mohammed, Shehla, Fanto, Manolis, Gautel, Mathias, Jungbluth, Heinz
Published in Brain (London, England : 1878) (01.03.2016)
Published in Brain (London, England : 1878) (01.03.2016)
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Journal Article
A recent surge of fulminant and early onset subacute sclerosing panencephalitis (SSPE) in the United Kingdom: An emergence in a time of measles
Lam, Tanya, Ranjan, Rajesh, Newark, Kerensa, Surana, Snehal, Bhangu, Neeraj, Lazenbury, Abigail, Childs, Anne-Marie, Abbey, Ianthe, Gibbon, Frances, Thomas, Gareth, Singh, Jaspal, Prabhakar, Prab, Kaminska, Margaret, Lascelles, Karine, Hacohen, Yael, Brown, Kevin, Lim, Ming
Published in European journal of paediatric neurology (01.09.2021)
Published in European journal of paediatric neurology (01.09.2021)
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Journal Article