Steroid‐responsive aseptic meningitis with raised intracranial pressure syndrome associated with myelin oligodendrocyte glycoprotein autoantibodies

por Wong, Wui‐Kwan, Troedson, Christopher, Peacock, Ken, Brilot‐Turville, Fabienne, Menezes, Manoj P, Dale, Russell C, Webster, Richard
Publicado 2022

Feasibility of designing, manufacturing and delivering 3D printed ankle-foot orthoses: a systematic review

por Wojciechowski, Elizabeth, Chang, Angela Y., Balassone, Daniel, Ford, Jacqueline, Cheng, Tegan L., Little, David, Menezes, Manoj P., Hogan, Sean, Burns, Joshua
Publicado 2019

Connective tissue presentation in two families expands the phenotypic spectrum of PYROXD1 disorders

por Evesson, Frances J, Dziaduch, Gregory, Bryen, Samantha J, Moore, Francesca, Pittman, Sara, Devanapalli, Beena, Waddell, Leigh B, Ryan, Monique M, Menezes, Manoj P, Weihl, Conrad C, Tolun, Adviye Ayper, Zaidman, Craig, Young, Helen, Adès, Lesley C, Cooper, Sandra T
Publicado 2023

Whole Genome Sequencing Identifies a 78 kb Insertion from Chromosome 8 as the Cause of Charcot-Marie-Tooth Neuropathy CMTX3

por Brewer, Megan H., Chaudhry, Rabia, Qi, Jessica, Kidambi, Aditi, Drew, Alexander P., Menezes, Manoj P., Ryan, Monique M., Farrar, Michelle A., Mowat, David, Subramanian, Gopinath M., Young, Helen K., Zuchner, Stephan, Reddel, Stephen W., Nicholson, Garth A., Kennerson, Marina L.
Publicado 2016

CSF neopterin and quinolinic acid are biomarkers of neuroinflammation and neurotoxicity in FIRES and other infection‐triggered encephalopathy syndromes

por Dale, Russell C., Thomas, Terrence, Patel, Shrujna, Han, Velda X., Kothur, Kavitha, Troedson, Christopher, Gupta, Sachin, Gill, Deepak, Malone, Stephen, Waak, Michaela, Calvert, Sophie, Subramanian, Gopinath, Andrews, P. Ian, Kandula, Tejaswi, Menezes, Manoj P., Ardern‐Holmes, Simone, Mohammad, Shekeeb, Bandodkar, Sushil, Yan, Jingya
Publicado 2023

Refining clinical trial inclusion criteria to optimize the standardized response mean of the CMTPedS

por Cornett, Kayla M. D., Menezes, Manoj P., Bray, Paula, Shy, Rosemary R., Moroni, Isabella, Pagliano, Emanuela, Pareyson, Davide, Estilow, Tim, Yum, Sabrina W., Bhandari, Trupti, Muntoni, Francesco, Laura, Matilde, Reilly, Mary M., Finkel, Richard S., Eichinger, Katy J., Herrmann, David N., Shy, Michael E., Burns, Joshua
Publicado 2020

Decreased cerebrospinal fluid kynurenic acid in epileptic spasms: A biomarker of response to corticosteroids

por Yan, Jingya, Kothur, Kavitha, Innes, Emily A., Han, Velda X., Jones, Hannah F., Patel, Shrujna, Tsang, Erica, Webster, Richard, Gupta, Sachin, Troedson, Christopher, Menezes, Manoj P., Antony, Jayne, Ardern-Holmes, Simone, Tantsis, Esther, Mohammad, Shekeeb, Wienholt, Louise, Pires, Ananda S., Heng, Benjamin, Guillemin, Gilles J., Guller, Anna, Gill, Deepak, Bandodkar, Sushil, Dale, Russell C.
Publicado 2022

CSF neopterin, quinolinic acid and kynurenine/tryptophan ratio are biomarkers of active neuroinflammation

por Yan, Jingya, Kothur, Kavitha, Mohammad, Shekeeb, Chung, Jason, Patel, Shrujna, Jones, Hannah F., Keating, Brooke A., Han, Velda X., Webster, Richard, Ardern-Holmes, Simone, Antony, Jayne, Menezes, Manoj P., Tantsis, Esther, Gill, Deepak, Gupta, Sachin, Kandula, Tejaswi, Sampaio, Hugo, Farrar, Michelle A., Troedson, Christopher, Andrews, P Ian, Pillai, Sekhar C., Heng, Benjamin, Guillemin, Gilles J., Guller, Anna, Bandodkar, Sushil, Dale, Russell C.
Publicado 2023

Mutations in the RNA exosome component gene EXOSC3 cause pontocerebellar hypoplasia and spinal motor neuron degeneration

por Wan, Jijun, Yourshaw, Michael, Mamsa, Hafsa, Rudnik-Schöneborn, Sabine, Menezes, Manoj P., Hong, Ji Eun, Leong, Derek W., Senderek, Jan, Salman, Michael S., Chitayat, David, Seeman, Pavel, von Moers, Arpad, Graul-Neumann, Luitgard, Kornberg, Andrew J., Castro-Gago, Manuel, Sobrido, María-Jesús, Sanefuji, Masafumi, Shieh, Perry B., Salamon, Noriko, Kim, Ronald C., Vinters, Harry V., Chen, Zugen, Zerres, Klaus, Ryan, Monique M., Nelson, Stanley F., Jen, Joanna C.
Publicado 2012

Stretch-activated ion channel TMEM63B associates with developmental and epileptic encephalopathies and progressive neurodegeneration

por Vetro, Annalisa, Pelorosso, Cristiana, Balestrini, Simona, Masi, Alessio, Hambleton, Sophie, Argilli, Emanuela, Conti, Valerio, Giubbolini, Simone, Barrick, Rebekah, Bergant, Gaber, Writzl, Karin, Bijlsma, Emilia K., Brunet, Theresa, Cacheiro, Pilar, Mei, Davide, Devlin, Anita, Hoffer, Mariëtte J.V., Machol, Keren, Mannaioni, Guido, Sakamoto, Masamune, Menezes, Manoj P., Courtin, Thomas, Sherr, Elliott, Parra, Riccardo, Richardson, Ruth, Roscioli, Tony, Scala, Marcello, von Stülpnagel, Celina, Smedley, Damian, Torella, Annalaura, Tohyama, Jun, Koichihara, Reiko, Hamada, Keisuke, Ogata, Kazuhiro, Suzuki, Takashi, Sugie, Atsushi, van der Smagt, Jasper J., van Gassen, Koen, Valence, Stephanie, Vittery, Emma, Malone, Stephen, Kato, Mitsuhiro, Matsumoto, Naomichi, Ratto, Gian Michele, Guerrini, Renzo
Publicado 2023

Treatable childhood neuronopathy caused by mutations in riboflavin transporter RFVT2

por Foley, A. Reghan, Menezes, Manoj P., Pandraud, Amelie, Gonzalez, Michael A., Al-Odaib, Ahmad, Abrams, Alexander J., Sugano, Kumiko, Yonezawa, Atsushi, Manzur, Adnan Y., Burns, Joshua, Hughes, Imelda, McCullagh, B. Gary, Jungbluth, Heinz, Lim, Ming J., Lin, Jean-Pierre, Megarbane, Andre, Urtizberea, J. Andoni, Shah, Ayaz H., Antony, Jayne, Webster, Richard, Broomfield, Alexander, Ng, Joanne, Mathew, Ann A., O’Byrne, James J., Forman, Eva, Scoto, Mariacristina, Prasad, Manish, O’Brien, Katherine, Olpin, Simon, Oppenheim, Marcus, Hargreaves, Iain, Land, John M., Wang, Min X., Carpenter, Kevin, Horvath, Rita, Straub, Volker, Lek, Monkol, Gold, Wendy, Farrell, Michael O., Brandner, Sebastian, Phadke, Rahul, Matsubara, Kazuo, McGarvey, Michael L., Scherer, Steven S., Baxter, Peter S., King, Mary D., Clayton, Peter, Rahman, Shamima, Reilly, Mary M., Ouvrier, Robert A., Christodoulou, John, Züchner, Stephan, Muntoni, Francesco, Houlden, Henry
Publicado 2014

Gain-of-function mutations in IFIH1 cause a spectrum of human disease phenotypes associated with upregulated type I interferon signaling

por Rice, Gillian I, del Toro Duany, Yoandris, Jenkinson, Emma M, Forte, Gabriella MA, Anderson, Beverley H, Ariaudo, Giada, Bader-Meunier, Brigitte, Baildam, Eileen M, Battini, Roberta, Beresford, Michael W, Casarano, Manuela, Chouchane, Mondher, Cimaz, Rolando, Collins, Abigail E, Cordeiro, Nuno JV, Dale, Russell C, Davidson, Joyce E, De Waele, Liesbeth, Desguerre, Isabelle, Faivre, Laurence, Fazzi, Elisa, Isidor, Bertrand, Lagae, Lieven, Latchman, Andrew R, Lebon, Pierre, Li, Chumei, Livingston, John H, Lourenço, Charles M, Mancardi, Maria Margherita, Masurel-Paulet, Alice, McInnes, Iain B, Menezes, Manoj P, Mignot, Cyril, O’Sullivan, James, Orcesi, Simona, Picco, Paolo P, Riva, Enrica, Robinson, Robert A, Rodriguez, Diana, Salvatici, Elisabetta, Scott, Christiaan, Szybowska, Marta, Tolmie, John L, Vanderver, Adeline, Vanhulle, Catherine, Vieira, Jose Pedro, Webb, Kate, Whitney, Robyn N, Williams, Simon G, Wolfe, Lynne A, Zuberi, Sameer M, Hur, Sun, Crow, Yanick J
Publicado 2014