Search Results - "Chong, W.K “Kling"

Clinical and molecular characterization of KCNT1-related severe early-onset epilepsy by 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

“…OBJECTIVETo characterize the phenotypic spectrum, molecular genetic findings, and functional consequences of pathogenic variants in early-onset KCNT1 epilepsy…”
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Novel mutations expand the clinical spectrum of DYNC1H1-associated spinal muscular atrophy by 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

“…OBJECTIVE:To expand the clinical phenotype of autosomal dominant congenital spinal muscular atrophy with lower extremity predominance (SMA-LED) due to…”
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Syndrome of Hepatic Cirrhosis, Dystonia, Polycythemia, and Hypermanganesemia Caused by Mutations in SLC30A10, a Manganese Transporter in Man by 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.

“…Environmental manganese (Mn) toxicity causes an extrapyramidal, parkinsonian-type movement disorder with characteristic magnetic resonance images of Mn…”
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Syndrome of Hepatic Cirrhosis, Dystonia, Polycythemia, and Hypermanganesemia Caused by Mutations in SLC30A10, a Manganese Transporter in Man by 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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Hippocampal and diencephalic pathology in developmental amnesia by Dzieciol, Anna M., Bachevalier, Jocelyne, Saleem, Kadharbatcha S., Gadian, David G., Saunders, Richard, Chong, W.K. Kling, Banks, Tina, Mishkin, Mortimer, Vargha-Khadem, Faraneh

“…Developmental amnesia (DA) is a selective episodic memory disorder associated with hypoxia-induced bilateral hippocampal atrophy of early onset. Despite the…”
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Immunotherapy-responsive childhood neurodegeneration with systemic and central nervous system inflammation by Sa, Mario, Hacohen, Yael, Alderson, Lucy, Chong, W.K. Kling, Anderson, Glenn, Jacques, Thomas S., Neubauer, David, Szczepanik, Elzbieta, Lim, Ming, Kaliakatsos, Marios

“…Subacute neuroregression in association with raised neopterin and overexpression of interferon stimulated genes (ISGs) could indicate a type 1…”
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MR determination of neonatal spinal canal depth by Arthurs, Owen, Thayyil, Sudhin, Wade, Angie, Chong, W.K. ‘Kling’, Sebire, Neil J, Taylor, Andrew M

“…Abstract Objectives Lumbar punctures (LPs) are frequently performed in neonates and often result in traumatic haemorrhagic taps. Knowledge of the distance from…”
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Cerebellar Involvement in the Phakomatoses by Chong, W.K. ‘Kling’

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Normal MRI neuroimaging and acute dancing eyes syndrome by Dale, Russell C, Church, Andrew J, Wyatt, Mike C, Sharma, Sanjiv, Chong, Kling WK, Cox, Tim CS

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