The genetic landscape of the epileptic encephalopathies of infancy and childhood von McTague, Amy, MBChB, Howell, Katherine B, MBBS, Cross, J Helen, Prof, Kurian, Manju A, PhD, Scheffer, Ingrid E, Prof

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Exome Sequencing Reveals De Novo WDR45 Mutations Causing a Phenotypically Distinct, X-Linked Dominant Form of NBIA von Haack, Tobias B., Hogarth, Penelope, Kruer, Michael C., Gregory, Allison, Wieland, Thomas, Schwarzmayr, Thomas, Graf, Elisabeth, Sanford, Lynn, Meyer, Esther, Kara, Eleanna, Cuno, Stephan M., Harik, Sami I., Dandu, Vasuki H., Nardocci, Nardo, Zorzi, Giovanna, Dunaway, Todd, Tarnopolsky, Mark, Skinner, Steven, Frucht, Steven, Hanspal, Era, Schrander-Stumpel, Connie, Héron, Delphine, Mignot, Cyril, Garavaglia, Barbara, Bhatia, Kailash, Hardy, John, Strom, Tim M., Boddaert, Nathalie, Houlden, Henry H., Kurian, Manju A., Meitinger, Thomas, Prokisch, Holger, Hayflick, Susan J.

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Postsynaptic movement disorders: clinical phenotypes, genotypes, and disease mechanisms von Abela, Lucia, Kurian, Manju A.

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The expanding spectrum of movement disorders in genetic epilepsies von Papandreou, Apostolos, Danti, Federica Rachele, Spaull, Robert, Leuzzi, Vincenzo, Mctague, Amy, Kurian, Manju A

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The monoamine neurotransmitter disorders: an expanding range of neurological syndromes von Kurian, Manju A, Dr, Gissen, Paul, PhD, Smith, Martin, PhD, Heales, Simon JR, Prof, Clayton, Peter T, Prof

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Exome Sequence Reveals Mutations in CoA Synthase as a Cause of Neurodegeneration with Brain Iron Accumulation von Dusi, Sabrina, Valletta, Lorella, Haack, Tobias B., Tsuchiya, Yugo, Venco, Paola, Pasqualato, Sebastiano, Goffrini, Paola, Tigano, Marco, Demchenko, Nikita, Wieland, Thomas, Schwarzmayr, Thomas, Strom, Tim M., Invernizzi, Federica, Garavaglia, Barbara, Gregory, Allison, Sanford, Lynn, Hamada, Jeffrey, Bettencourt, Conceição, Houlden, Henry, Chiapparini, Luisa, Zorzi, Giovanna, Kurian, Manju A., Nardocci, Nardo, Prokisch, Holger, Hayflick, Susan, Gout, Ivan, Tiranti, Valeria

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The clinical and genetic heterogeneity of paroxysmal dyskinesias von Gardiner, Alice R, Jaffer, Fatima, Dale, Russell C, Labrum, Robyn, Erro, Roberto, Meyer, Esther, Xiromerisiou, Georgia, Stamelou, Maria, Walker, Matthew, Kullmann, Dimitri, Warner, Tom, Jarman, Paul, Hanna, Mike, Kurian, Manju A, Bhatia, Kailash P, Houlden, Henry

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Frequency and phenotypic spectrum of KMT2B dystonia in childhood: A single‐center cohort study von Carecchio, Miryam, Invernizzi, Federica, Gonzàlez‐Latapi, Paulina, Panteghini, Celeste, Zorzi, Giovanna, Romito, Luigi, Leuzzi, Vincenzo, Galosi, Serena, Reale, Chiara, Zibordi, Federica, Joseph, Agnel P., Topf, Maya, Piano, Carla, Bentivoglio, Anna Rita, Girotti, Floriano, Morana, Paolo, Morana, Benedetto, Kurian, Manju A., Garavaglia, Barbara, Mencacci, Niccolò E., Lubbe, Steven J., Nardocci, Nardo

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De Novo Mutations in PDE10A Cause Childhood-Onset Chorea with Bilateral Striatal Lesions von Mencacci, Niccolò E., Kamsteeg, Erik-Jan, Nakashima, Kosuke, R’Bibo, Lea, Lynch, David S., Balint, Bettina, Willemsen, Michèl A.A.P., Adams, Matthew E., Wiethoff, Sarah, Suzuki, Kazunori, Davies, Ceri H., Ng, Joanne, Meyer, Esther, Veneziano, Liana, Giunti, Paola, Hughes, Deborah, Raymond, F. Lucy, Carecchio, Miryam, Zorzi, Giovanna, Nardocci, Nardo, Barzaghi, Chiara, Garavaglia, Barbara, Salpietro, Vincenzo, Hardy, John, Pittman, Alan M., Houlden, Henry, Kurian, Manju A., Kimura, Haruhide, Vissers, Lisenka E.L.M., Wood, Nicholas W., Bhatia, Kailash P.

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Absence of the Autophagy Adaptor SQSTM1/p62 Causes Childhood-Onset Neurodegeneration with Ataxia, Dystonia, and Gaze Palsy von Haack, Tobias B., Ignatius, Erika, Calvo-Garrido, Javier, Iuso, Arcangela, Isohanni, Pirjo, Maffezzini, Camilla, Lönnqvist, Tuula, Suomalainen, Anu, Gorza, Matteo, Kremer, Laura S., Graf, Elisabeth, Hartig, Monika, Berutti, Riccardo, Paucar, Martin, Svenningsson, Per, Stranneheim, Henrik, Brandberg, Göran, Wedell, Anna, Kurian, Manju A., Hayflick, Susan A., Venco, Paola, Tiranti, Valeria, Strom, Tim M., Dichgans, Martin, Horvath, Rita, Holinski-Feder, Elke, Freyer, Christoph, Meitinger, Thomas, Prokisch, Holger, Senderek, Jan, Wredenberg, Anna, Carroll, Christopher J., Klopstock, Thomas

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Utility of Induced Pluripotent Stem Cells for the Study and Treatment of Genetic Diseases: Focus on Childhood Neurological Disorders von Barral, Serena, Kurian, Manju A

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KIF1A‐related disorders in children: A wide spectrum of central and peripheral nervous system involvement von Nemani, Tarishi, Steel, Dora, Kaliakatsos, Marios, DeVile, Catherine, Ververi, Athina, Scott, Richard, Getov, Spas, Sudhakar, Sniya, Male, Alison, Mankad, Kshitij, Muntoni, Francesco, Reilly, Mary M, Kurian, Manju A, Carr, Lucinda, Munot, Pinki

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Migrating partial seizures of infancy: expansion of the electroclinical, radiological and pathological disease spectrum von MCTAGUE, Amy, APPLETON, Richard, FARRELL, Michael A, HUGHES, Elaine, JEFFERSON, Rosalind, LASCELLES, Karine, LIVINGSTON, John, MEYER, Esther, MCLELLAN, Ailsa, PODURI, Annapurna, SCHEFFER, Ingrid E, SPINTY, Stefan, AVULA, Shivaram, KURIAN, Manju A, KNEEN, Rachel, CROSS, J. Helen, KING, Mary D, JACQUES, Thomas S, BHATE, Sanjay, CRONIN, Anthony, CURRAN, Andrew, DESURKAR, Archana

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Electrophysiological Properties of Human Cortical Organoids: Current State of the Art and Future Directions von Zourray, Clara, Kurian, Manju A, Barral, Serena, Lignani, Gabriele

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What is new for monoamine neurotransmitter disorders? von Marecos, Clara, Ng, Joanne, Kurian, Manju A.

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Genome Editing in iPSC-Based Neural Systems: From Disease Models to Future Therapeutic Strategies von McTague, Amy, Rossignoli, Giada, Ferrini, Arianna, Barral, Serena, Kurian, Manju A.

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Dopamine Transporter Deficiency Syndrome (DTDS): Expanding the Clinical Phenotype and Precision Medicine Approaches von Ng, Joanne, Barral, Serena, Waddington, Simon N, Kurian, Manju A

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Loss-of-Function Mutations in RAB18 Cause Warburg Micro Syndrome von Bem, Danai, Yoshimura, Shin-Ichiro, Nunes-Bastos, Ricardo, Bond, Frances F., Kurian, Manju A., Rahman, Fatima, Handley, Mark T.W., Hadzhiev, Yavor, Masood, Imran, Straatman-Iwanowska, Ania A., Cullinane, Andrew R., McNeill, Alisdair, Pasha, Shanaz S., Kirby, Gail A., Foster, Katharine, Ahmed, Zubair, Morton, Jenny E., Williams, Denise, Graham, John M., Dobyns, William B., Burglen, Lydie, Ainsworth, John R., Gissen, Paul, Müller, Ferenc, Maher, Eamonn R., Barr, Francis A., Aligianis, Irene A.

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SGCE mutations cause psychiatric disorders: clinical and genetic characterization von PEALL, Kathryn J, SMITH, Daniel J, WHITE, Cathy, LUX, Andrew, JARDINE, Philip, BAJAJ, Narinder, LYNCH, Bryan, KIROV, George, O'RIORDAN, Sean, SAMUEL, Michael, LYNCH, Timothy, KING, Mary D, KURIAN, Manju A, CHINNERY, Patrick F, WARNER, Thomas T, BLAKE, Derek J, OWEN, Michael J, MORRIS, Huw R, WARDLE, Mark, WAITE, Adrian J, HEDDERLY, Tammy, LIN, Jean-Pierre, SMITH, Martin, WHONE, Alan, PALL, Hardev

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Histone lysine methyltransferase-related neurodevelopmental disorders: current knowledge and saRNA future therapies von Roth, Charlotte, Kilpinen, Helena, Kurian, Manju A, Barral, Serena

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