Exome Sequencing Reveals De Novo WDR45 Mutations Causing a Phenotypically Distinct, X-Linked Dominant Form of NBIA
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.
Published in American journal of human genetics (07.12.2012)
Published in American journal of human genetics (07.12.2012)
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Journal Article
The clinical and genetic heterogeneity of paroxysmal dyskinesias
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
Published in Brain (London, England : 1878) (01.12.2015)
Published in Brain (London, England : 1878) (01.12.2015)
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Journal Article
Exome Sequence Reveals Mutations in CoA Synthase as a Cause of Neurodegeneration with Brain Iron Accumulation
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
Published in American journal of human genetics (02.01.2014)
Published in American journal of human genetics (02.01.2014)
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Journal Article
Frequency and phenotypic spectrum of KMT2B dystonia in childhood: A single‐center cohort study
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
Published in Movement disorders (01.10.2019)
Published in Movement disorders (01.10.2019)
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Journal Article
De Novo Mutations in PDE10A Cause Childhood-Onset Chorea with Bilateral Striatal Lesions
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.
Published in American journal of human genetics (07.04.2016)
Published in American journal of human genetics (07.04.2016)
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Journal Article
Absence of the Autophagy Adaptor SQSTM1/p62 Causes Childhood-Onset Neurodegeneration with Ataxia, Dystonia, and Gaze Palsy
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
Published in American journal of human genetics (01.09.2016)
Published in American journal of human genetics (01.09.2016)
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Journal Article
KIF1A‐related disorders in children: A wide spectrum of central and peripheral nervous system involvement
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
Published in Journal of the peripheral nervous system (01.06.2020)
Published in Journal of the peripheral nervous system (01.06.2020)
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Journal Article
Migrating partial seizures of infancy: expansion of the electroclinical, radiological and pathological disease spectrum
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
Published in Brain (London, England : 1878) (01.05.2013)
Published in Brain (London, England : 1878) (01.05.2013)
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Journal Article
What is new for monoamine neurotransmitter disorders?
Marecos, Clara, Ng, Joanne, Kurian, Manju A.
Published in Journal of inherited metabolic disease (01.07.2014)
Published in Journal of inherited metabolic disease (01.07.2014)
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Journal Article
Conference Proceeding
Loss-of-Function Mutations in RAB18 Cause Warburg Micro Syndrome
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.
Published in American journal of human genetics (08.04.2011)
Published in American journal of human genetics (08.04.2011)
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Journal Article
SGCE mutations cause psychiatric disorders: clinical and genetic characterization
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
Published in Brain (London, England : 1878) (2013)
Published in Brain (London, England : 1878) (2013)
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