Genetic disorders of thyroid metabolism and brain development

Por Kurian, Manju A, Jungbluth, Heinz
Publicado no Dev Med Child Neurol (2014)

Utility of Induced Pluripotent Stem Cells for the Study and Treatment of Genetic Diseases: Focus on Childhood Neurological Disorders

Por Barral, Serena, Kurian, Manju A.
Publicado no Front Mol Neurosci (2016)

Benign Hereditary Chorea: An Update

Por Peall, Kathryn J., Kurian, Manju A.
Publicado no Tremor Other Hyperkinet Mov (N Y) (2015)

A novel PCFT gene mutation (p.Cys66LeufsX99) causing hereditary folate malabsorption

Por Meyer, Esther, Kurian, Manju A., Pasha, Shanaz, Trembath, Richard C., Cole, Trevor, Maher, Eamonn R.
Publicado em 2010

GABRB3 mutations: a new and emerging cause of early infantile epileptic encephalopathy

Por Papandreou, Apostolos, McTague, Amy, Trump, Natalie, Ambegaonkar, Gautam, Ngoh, Adeline, Meyer, Esther, Scott, Richard H, Kurian, Manju A
Publicado no Dev Med Child Neurol (2015)

Severe infantile epileptic encephalopathy due to mutations in PLCB1: expansion of the genotypic and phenotypic disease spectrum

Por Ngoh, Adeline, McTague, Amy, Wentzensen, Ingrid M, Meyer, Esther, Applegate, Carolyn, Kossoff, Eric H, Batista, Denise A, Wang, Tao, Kurian, Manju A
Publicado no Dev Med Child Neurol (2014)

TBC1D24 Mutations in a Sibship with Multifocal Polymyoclonus

Por Ngoh, Adeline, Bras, Jose, Guerreiro, Rita, McTague, Amy, Ng, Joanne, Meyer, Esther, Chong, W. Kling, Boyd, Stewart, MacLellan, Linda, Kirkpatrick, Martin, Kurian, Manju A.
Publicado no Tremor Other Hyperkinet Mov (N Y) (2017)

Familial Recurrences of FOXG1-Related Disorder: Evidence for Mosaicism

Por McMahon, Kelly Q., Papandreou, Apostolos, Ma, Mandy, Barry, Brenda J., Mirzaa, Ghayda M., Dobyns, William B., Scott, Richard H., Trump, Natalie, Kurian, Manju A., Paciorkowski, Alex R.
Publicado no Am J Med Genet A (2015)

Improving diagnosis and broadening the phenotypes in early-onset seizure and severe developmental delay disorders through gene panel analysis

Por Trump, Natalie, McTague, Amy, Brittain, Helen, Papandreou, Apostolos, Meyer, Esther, Ngoh, Adeline, Palmer, Rodger, Morrogh, Deborah, Boustred, Christopher, Hurst, Jane A, Jenkins, Lucy, Kurian, Manju A, Scott, Richard H
Publicado no J Med Genet (2016)

RARS2 mutations in a sibship with infantile spasms

Por Ngoh, Adeline, Bras, Jose, Guerreiro, Rita, Meyer, Esther, McTague, Amy, Dawson, Eleanor, Mankad, Kshitij, Gunny, Roxana, Clayton, Peter, Mills, Philippa B., Thornton, Rachel, Lai, Ming, Forsyth, Robert, Kurian, Manju A.
Publicado no Epilepsia (2016)

Perinatal systemic gene delivery using adeno-associated viral vectors

Por Karda, Rajvinder, Buckley, Suzanne M. K., Mattar, Citra N., Ng, Joanne, Massaro, Giulia, Hughes, Michael P., Kurian, Manju A., Baruteau, Julien, Gissen, Paul, Chan, Jerry K. Y., Bacchelli, Chiara, Waddington, Simon N., Rahim, Ahad A.
Publicado no Front Mol Neurosci (2014)

The clinical and genetic heterogeneity of paroxysmal dyskinesias

Por 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
Publicado no Brain (2015)

Identification of a human synaptotagmin-1 mutation that perturbs synaptic vesicle cycling

Por Baker, Kate, Gordon, Sarah L., Grozeva, Detelina, van Kogelenberg, Margriet, Roberts, Nicola Y., Pike, Michael, Blair, Edward, Hurles, Matthew E., Chong, W. Kling, Baldeweg, Torsten, Kurian, Manju A., Boyd, Stewart G., Cousin, Michael A., Raymond, F. Lucy
Publicado no J Clin Invest (2015)

Homozygous loss-of-function mutations in the gene encoding the dopamine transporter are associated with infantile parkinsonism-dystonia

Por Kurian, Manju A., Zhen, Juan, Cheng, Shu-Yuan, Li, Yan, Mordekar, Santosh R., Jardine, Philip, Morgan, Neil V., Meyer, Esther, Tee, Louise, Pasha, Shanaz, Wassmer, Evangeline, Heales, Simon J.R., Gissen, Paul, Reith, Maarten E.A., Maher, Eamonn R.
Publicado em 2009

Psychiatric disorders, myoclonus dystonia and SGCE: an international study

Por Peall, Kathryn J., Dijk, Joke M., Saunders‐Pullman, Rachel, Dreissen, Yasmine E. M., van Loon, Ilke, Cath, Danielle, Kurian, Manju A., Owen, Michael J., Foncke, Elisabeth M. J., Morris, Huw R., Gasser, Thomas, Bressman, Susan, Asmus, Friedrich, Tijssen, Marina A. J.
Publicado no Ann Clin Transl Neurol (2015)

The International Working Group on Neurotransmitter related Disorders (iNTD): A worldwide research project focused on primary and secondary neurotransmitter disorders

Por Opladen, Thomas, Cortès-Saladelafont, Elisenda, Mastrangelo, Mario, Horvath, Gabriella, Pons, Roser, Lopez-Laso, Eduardo, Fernández-Ramos, Joaquín A., Honzik, Tomas, Pearson, Toni, Friedman, Jennifer, Scholl-Bürgi, Sabine, Wassenberg, Tessa, Jung-Klawitter, Sabine, Kuseyri, Oya, Jeltsch, Kathrin, Kurian, Manju A., Garcia-Cazorla, Àngels
Publicado no Mol Genet Metab Rep (2016)

Consensus guideline for the diagnosis and treatment of aromatic l-amino acid decarboxylase (AADC) deficiency

Por Wassenberg, Tessa, Molero-Luis, Marta, Jeltsch, Kathrin, Hoffmann, Georg F., Assmann, Birgit, Blau, Nenad, Garcia-Cazorla, Angeles, Artuch, Rafael, Pons, Roser, Pearson, Toni S., Leuzzi, Vincenco, Mastrangelo, Mario, Pearl, Phillip L., Lee, Wang Tso, Kurian, Manju A., Heales, Simon, Flint, Lisa, Verbeek, Marcel, Willemsen, Michèl, Opladen, Thomas
Publicado no Orphanet J Rare Dis (2017)

Migrating partial seizures of infancy: expansion of the electroclinical, radiological and pathological disease spectrum

Por McTague, Amy, Appleton, Richard, Avula, Shivaram, Cross, J. Helen, King, Mary D., Jacques, Thomas S., Bhate, Sanjay, Cronin, Anthony, Curran, Andrew, Desurkar, Archana, Farrell, Michael A., Hughes, Elaine, Jefferson, Rosalind, Lascelles, Karine, Livingston, John, Meyer, Esther, McLellan, Ailsa, Poduri, Annapurna, Scheffer, Ingrid E., Spinty, Stefan, Kurian, Manju A., Kneen, Rachel
Publicado em 2013

GNAO1 encephalopathy: Broadening the phenotype and evaluating treatment and outcome

Por Danti, Federica Rachele, Galosi, Serena, Romani, Marta, Montomoli, Martino, Carss, Keren J., Raymond, F. Lucy, Parrini, Elena, Bianchini, Claudia, McShane, Tony, Dale, Russell C., Mohammad, Shekeeb S., Shah, Ubaid, Mahant, Neil, Ng, Joanne, McTague, Amy, Samanta, Rajib, Vadlamani, Gayatri, Valente, Enza Maria, Leuzzi, Vincenzo, Kurian, Manju A., Guerrini, Renzo
Publicado no Neurol Genet (2017)

Homozygous PLCB1 Deletion Associated with Malignant Migrating Partial Seizures in Infancy

Por Poduri, Annapurna, Chopra, Sameer S., Neilan, Edward G., Elhosary, P. Christina, Kurian, Manju A., Meyer, Esther, Barry, Brenda J., Khwaja, Omar S., Salih, Mustafa A. M., Sci, Dr Med, Stödberg, Tommy, Scheffer, Ingrid E., Maher, Eamonn R., Sahin, Mustafa, Wu, Bai-Lin, Med, M, Berry, Gerard T., Walsh, Christopher A., Picker, Jonathan, Kothare, Sanjeev V.
Publicado em 2012