Syndrome of Hepatic Cirrhosis, Dystonia, Polycythemia, and Hypermanganesemia Caused by Mutations in SLC30A10, a Manganese Transporter in Man von Tuschl, Karin, Clayton, Peter T., Gospe, Sidney M., Gulab, Shamshad, Ibrahim, Shahnaz, Singhi, Pratibha, Aulakh, Roosy, Ribeiro, Reinaldo T., Barsottini, Orlando G., Zaki, Maha S., Del Rosario, Maria Luz, Dyack, Sarah, Price, Victoria, Rideout, Andrea, Gordon, Kevin, Wevers, Ron A., “Kling” Chong, W.K., Mills, Philippa B.

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Clinical and molecular characterization of KCNT1-related severe early-onset epilepsy von McTague, Amy, Nair, Umesh, Malhotra, Sony, Meyer, Esther, Trump, Natalie, Gazina, Elena V, Papandreou, Apostolos, Ngoh, Adeline, Ackermann, Sally, Ambegaonkar, Gautam, Appleton, Richard, Desurkar, Archana, Eltze, Christin, Kneen, Rachel, Kumar, Ajith V, Lascelles, Karine, Montgomery, Tara, Ramesh, Venkateswaran, Samanta, Rajib, Scott, Richard H, Tan, Jeen, Whitehouse, William, Poduri, Annapurna, Scheffer, Ingrid E, Chong, W.K “Kling”, Cross, J Helen, Topf, Maya, Petrou, Steven, Kurian, Manju A

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Comparison of diagnostic performance for perinatal and paediatric post-mortem imaging: CT versus MRI von Arthurs, Owen J., Guy, Anna, Thayyil, Sudhin, Wade, Angie, Jones, Rod, Norman, Wendy, Scott, Rosemary, Robertson, Nicola J., Jacques, Thomas S., Chong, W. K. ‘Kling’, Gunny, Roxanna, Saunders, Dawn, Olsen, Oystein E., Owens, Catherine M., Offiah, Amaka C., Chitty, Lyn S., Taylor, Andrew M., Sebire, Neil J.

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Novel mutations expand the clinical spectrum of DYNC1H1-associated spinal muscular atrophy von Scoto, Mariacristina, Rossor, Alexander M, Harms, Matthew B, Cirak, Sebahattin, Calissano, Mattia, Robb, Stephanie, Manzur, Adnan Y, Martínez Arroyo, Amaia, Rodriguez Sanz, Aida, Mansour, Sahar, Fallon, Penny, Hadjikoumi, Irene, Klein, Andrea, Yang, Michele, De Visser, Marianne, Overweg-Plandsoen, W.C.G (Truus), Baas, Frank, Taylor, J Paul, Benatar, Michael, Connolly, Anne M, Al-Lozi, Muhammad T, Nixon, John, de Goede, Christian G.E.L, Foley, A Reghan, Mcwilliam, Catherine, Pitt, Matthew, Sewry, Caroline, Phadke, Rahul, Hafezparast, Majid, Chong, W.K “Kling, Mercuri, Eugenio, Baloh, Robert H, Reilly, Mary M, Muntoni, Francesco

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Cerebral Magnetic Resonance Biomarkers in Neonatal Encephalopathy: A Meta-analysis von Thayyil, Sudhin, Chandrasekaran, Manigandan, Taylor, Andrew, Bainbridge, Alan, Cady, Ernest B, Chong, W. K. Kling, Murad, Shahed, Omar, Rumana Z, Robertson, Nicola J

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Epilepsy due to PNPO mutations: genotype, environment and treatment affect presentation and outcome von Mills, Philippa B., Camuzeaux, Stephane S.M., Footitt, Emma J., Mills, Kevin A., Gissen, Paul, Fisher, Laura, Das, Krishna B., Varadkar, Sophia M., Zuberi, Sameer, McWilliam, Robert, Stödberg, Tommy, Plecko, Barbara, Baumgartner, Matthias R., Maier, Oliver, Calvert, Sophie, Riney, Kate, Wolf, Nicole I., Livingston, John H., Bala, Pronab, Morel, Chantal F., Feillet, François, Raimondi, Francesco, Del Giudice, Ennio, Chong, W. Kling, Pitt, Matthew, Clayton, Peter T.

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Anatomo‐functional changes in neural substrates of cognitive memory in developmental amnesia: Insights from automated and manual Magnetic Resonance Imaging examinations von Chareyron, Loïc J., Chong, W. K. Kling, Banks, Tina, Burgess, Neil, Saunders, Richard C., Vargha‐Khadem, Faraneh

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Cognitive outcome and its neural correlates after cardiorespiratory arrest in childhood von Geva, Sharon, Hoskote, Aparna, Saini, Maneet, Clark, Christopher A., Banks, Tina, Chong, W. K. Kling, Baldeweg, Torsten, Haan, Michelle, Vargha‐Khadem, Faraneh

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Deep sequencing reveals persistence of cell-associated mumps vaccine virus in chronic encephalitis von Morfopoulou, Sofia, Mee, Edward T., Connaughton, Sarah M., Brown, Julianne R., Gilmour, Kimberly, Chong, WK ‘Kling’, Duprex, W. Paul, Ferguson, Deborah, Hubank, Mike, Hutchinson, Ciaran, Kaliakatsos, Marios, McQuaid, Stephen, Paine, Simon, Plagnol, Vincent, Ruis, Christopher, Virasami, Alex, Zhan, Hong, Jacques, Thomas S., Schepelmann, Silke, Qasim, Waseem, Breuer, Judith

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Paediatric MOG antibody–associated ADEM with complex movement disorder: A case report von Sa, Mario, Thornton, Rachel, Chong, WK Kling, Kaliakatsos, Marios, Hacohen, Yael

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Hippocampal and diencephalic pathology in developmental amnesia von Dzieciol, Anna M., Bachevalier, Jocelyne, Saleem, Kadharbatcha S., Gadian, David G., Saunders, Richard, Chong, W.K. Kling, Banks, Tina, Mishkin, Mortimer, Vargha-Khadem, Faraneh

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Mutations within Sox2/SOX2 are associated with abnormalities in the hypothalamo-pituitary-gonadal axis in mice and humans von Kelberman, Daniel, Rizzoti, Karine, Avilion, Ariel, Bitner-Glindzicz, Maria, Cianfarani, Stefano, Collins, Julie, Chong, W Kling, Kirk, Jeremy M W, Achermann, John C, Ross, Richard, Carmignac, Danielle, Lovell-Badge, Robin, Robinson, Iain C A F, Dattani, Mehul T

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TRNT1 deficiency: clinical, biochemical and molecular genetic features von Wedatilake, Yehani, Niazi, Rojeen, Fassone, Elisa, Powell, Christopher A, Pearce, Sarah, Plagnol, Vincent, Saldanha, José W, Kleta, Robert, Chong, W Kling, Footitt, Emma, Mills, Philippa B, Taanman, Jan-Willem, Minczuk, Michal, Clayton, Peter T, Rahman, Shamima

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Post mortem magnetic resonance imaging in the fetus, infant and child: a comparative study with conventional autopsy (MaRIAS Protocol) von Thayyil, Sudhin, Sebire, Neil J, Chitty, Lyn S, Wade, Angie, Olsen, Oystein, Gunny, Roxana S, Offiah, Amaka, Saunders, Dawn E, Owens, Catherine M, Chong, W K Kling, Robertson, Nicola J, Taylor, Andrew M

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Hypothermia for moderate or severe neonatal encephalopathy in low-income and middle-income countries (HELIX): a randomised controlled trial in India, Sri Lanka, and Bangladesh von Thayyil, Sudhin, Montaldo, Paolo, Shukla, Deepika, Ivain, Phoebe, Mendoza, Josephine, Moreno-Morales, Maria, Lally, Peter J, Benakappa, Naveen, Bandiya, Prathik, Somanna, Jagadish, Rajvanshi, Ankur, Jayaraman, Kumutha, Sebastian, Monica, Tamilselvam, Indumathi A, Rajendran, Usha D, Kumar, Vignesh, Vadakepat, Padmesh, Gopalan, Kavitha, Sundaram, Mangalabharathi, Seeralar, Arasar, Vinayagam, Prakash, Murugan, Kanchana D, Kumaran, Elumalai S, Mondkar, Jayashree, Manerkar, Swati, Dewang, Kapil, Bhisikar, Swapnil M, Bichkar, Vrushali, Jiwnani, Kapil, Shahidullah, Mohammod, Jahan, Ismat, Mannan, Mohammad A, Dey, Sanjoy K, Nahar, Mst N, Shabuj, Kamrul H, Abayabandara-Herath, Thilini, Chathurangika, Gayani K, Wanigasinghe, Jithangi, Sujatha, Radhika, Saraswathy, Sobhakumar, Radha, Saritha J, Krishnan, Vaisakh, Devadas, Sahana, Chandriah, Savitha, Chandrasekaran, Manigandan, Atreja, Gaurav, Muraleedharan, Pallavi, Herberg, Jethro A, Kling Chong, W K, Pressler, Ronit, Ramji, Siddarth, Shankaran, Seetha, Thayyil, Sudhin, Pant, Stuti, Shukla, Deepika, Oliveira, Vania, Ivain, Phoebe, Bassett, Paul, Swamy, Ravi, Lally, Peter J., Shivarudhrappa, Indramma, Kantharajanna, Usha B., Rajvanshi, Ankur, Joby, Poovathumkal K., Sebastian, Monica, Tamilselvam, Indumathi, Rajendran, Ushadevi, Kumar, Vignesh, Sudarsanan, Harish, Seeralar, Arasar, Vinayagam, Prakash, Sajjid, Mohamed, Murugan, Kanchana D., Sathyanathan, Babu P., Kumaran, Elumalai S., Mondkar, Jayashree, Manerkar, Swati, Joshi, Anagha R., Dewang, Kapil, Bhisikar, Swapnil M., Kalamdani, Pavan, Shahidullah, Mohammod, Moni, Sadeka C., Jahan, Ismat, Mannan, Mohammad A., Dey, Sanjoy K., Nahar, Mst. N., Islam, Mohammad N, Rodrigo, Ranmali, Chathurangika, Gayani K, Wanigasinghe, Jithangi, Saraswathy, Sobhakumar, Sarojam, Manoj K., Krishnan, Vaisakh, Nair, Mohandas K., Venkateswaran, Harini, Chandrasekaran, Manigandan, Muraleedharan, Pallavi, Pressler, Ronit, Shankaran, Seetha

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Mosaic Activating Mutations in GNA11 and GNAQ Are Associated with Phakomatosis Pigmentovascularis and Extensive Dermal Melanocytosis von Thomas, Anna C., Zeng, Zhiqiang, Rivière, Jean-Baptiste, O’Shaughnessy, Ryan, Al-Olabi, Lara, St.-Onge, Judith, Atherton, David J., Aubert, Hélène, Bagazgoitia, Lorea, Barbarot, Sébastien, Bourrat, Emmanuelle, Chiaverini, Christine, Chong, W. Kling, Duffourd, Yannis, Glover, Mary, Groesser, Leopold, Hadj-Rabia, Smail, Hamm, Henning, Happle, Rudolf, Mushtaq, Imran, Lacour, Jean-Philippe, Waelchli, Regula, Wobser, Marion, Vabres, Pierre, Patton, E. Elizabeth, Kinsler, Veronica A.

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Post-mortem MRI versus conventional autopsy in fetuses and children: a prospective validation study von Thayyil, Sudhin, Dr, Sebire, Neil J, Prof, Chitty, Lyn S, Prof, Wade, Angie, PhD, Chong, WK, MD, Olsen, Oystein, FRCR, Gunny, Roxana S, FRCR, Offiah, Amaka C, PhD, Owens, Catherine M, FRCR, Saunders, Dawn E, FRCR, Scott, Rosemary J, FRCPath, Jones, Rod, MSc, Norman, Wendy, DCR, Addison, Shea, BSc, Bainbridge, Alan, PhD, Cady, Ernest B, FInstP, Vita, Enrico De, PhD, Robertson, Nicola J, PhD, Taylor, Andrew M, Prof

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Expanding the phenotype in argininosuccinic aciduria: need for new therapies von Baruteau, Julien, Jameson, Elisabeth, Morris, Andrew A., Chakrapani, Anupam, Santra, Saikat, Vijay, Suresh, Kocadag, Huriye, Beesley, Clare E., Grunewald, Stephanie, Murphy, Elaine, Cleary, Maureen, Mundy, Helen, Abulhoul, Lara, Broomfield, Alexander, Lachmann, Robin, Rahman, Yusof, Robinson, Peter H., MacPherson, Lesley, Foster, Katharine, Chong, W. Kling, Ridout, Deborah A., Bounford, Kirsten McKay, Waddington, Simon N., Mills, Philippa B., Gissen, Paul, Davison, James E.

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ARNT2 mutation causes hypopituitarism, post-natal microcephaly, visual and renal anomalies von Webb, Emma A., AlMutair, Angham, Kelberman, Daniel, Bacchelli, Chiara, Chanudet, Estelle, Lescai, Francesco, Andoniadou, Cynthia L., Banyan, Abdul, Alsawaid, Al, Alrifai, Muhammad T., Alahmesh, Mohammed A., Balwi, M., Mousavy-Gharavy, Seyedeh N., Lukovic, Biljana, Burke, Derek, McCabe, Mark J., Kasia, Tessa, Kleta, Robert, Stupka, Elia, Beales, Philip L., Thompson, Dorothy A., Chong, W. Kling, Alkuraya, Fowzan S., Martinez-Barbera, Juan-Pedro, Sowden, Jane C., Dattani, Mehul T.

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Syndrome of Hepatic Cirrhosis, Dystonia, Polycythemia, and Hypermanganesemia Caused by Mutations in SLC30A10, a Manganese Transporter in Man von Tuschl, Karin, Clayton, Peter T., Gospe, Sidney M., Gulab, Shamshad, Ibrahim, Shahnaz, Singhi, Pratibha, Aulakh, Roosy, Ribeiro, Reinaldo T., Barsottini, Orlando G., Zaki, Maha S., Del Rosario, Maria Luz, Dyack, Sarah, Price, Victoria, Rideout, Andrea, Gordon, Kevin, Wevers, Ron A., Chong, W.K. ‘‘Kling’’, Mills, Philippa B.

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