Mutations in BICD2 Cause Dominant Congenital Spinal Muscular Atrophy and Hereditary Spastic Paraplegia
Oates, Emily C., Rossor, Alexander M., Hafezparast, Majid, Gonzalez, Michael, Speziani, Fiorella, MacArthur, Daniel G., Lek, Monkol, Cottenie, Ellen, Scoto, Mariacristina, Foley, A. Reghan, Hurles, Matthew, Houlden, Henry, Greensmith, Linda, Auer-Grumbach, Michaela, Pieber, Thomas R., Strom, Tim M., Schule, Rebecca, Herrmann, David N., Sowden, Janet E., Acsadi, Gyula, Menezes, Manoj P., Clarke, Nigel F., Züchner, Stephan, Muntoni, Francesco, North, Kathryn N., Reilly, Mary M.
Published in American journal of human genetics (06.06.2013)
Published in American journal of human genetics (06.06.2013)
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Eye movement disorders are an early manifestation of CACNA1A mutations in children
Tantsis, Esther M, Gill, Deepak, Griffiths, Lyn, Gupta, Sachin, Lawson, John, Maksemous, Neven, Ouvrier, Robert, Riant, Florence, Smith, Robert, Troedson, Christopher, Webster, Richard, Menezes, Manoj P
Published in Developmental medicine and child neurology (01.06.2016)
Published in Developmental medicine and child neurology (01.06.2016)
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Mutations in the RNA exosome component gene EXOSC3 cause pontocerebellar hypoplasia and spinal motor neuron degeneration
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
Published in Nature genetics (01.06.2012)
Published in Nature genetics (01.06.2012)
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Feasibility of designing, manufacturing and delivering 3D printed ankle‐foot orthoses: a systematic review
Wojciechowski, Elizabeth, Chang, Angela Y., Balassone, Daniel, Ford, Jacqueline, Cheng, Tegan L., Little, David, Menezes, Manoj P., Hogan, Sean, Burns, Joshua
Published in Journal of foot and ankle research (07.02.2019)
Published in Journal of foot and ankle research (07.02.2019)
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Phenotypic Variability of Childhood Charcot-Marie-Tooth Disease
Cornett, Kayla M D, Menezes, Manoj P, Bray, Paula, Halaki, Mark, Shy, Rosemary R, Yum, Sabrina W, Estilow, Timothy, Moroni, Isabella, Foscan, Maria, Pagliano, Emanuela, Pareyson, Davide, Laurá, Matilde, Bhandari, Trupti, Muntoni, Francesco, Reilly, Mary M, Finkel, Richard S, Sowden, Janet, Eichinger, Katy J, Herrmann, David N, Shy, Michael E, Burns, Joshua
Published in JAMA neurology (01.06.2016)
Published in JAMA neurology (01.06.2016)
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An inherited TUBB2B mutation alters a kinesin-binding site and causes polymicrogyria, CFEOM and axon dysinnervation
CEDERQUIST, Gustav Y, LUCHNIAK, Anna, GOMES, Lavier, FLAHERTY, Maree, GRANT, Patricia Ellen, GUPTA, Mohan L, ENGLE, Elizabeth C, TISCHFIELD, Max A, PEEVA, Maya, YUYU SONG, MENEZES, Manoj P, CHAN, Wai-Man, ANDREWS, Caroline, CHEW, Sheena, JAMIESON, Robyn V
Published in Human molecular genetics (15.12.2012)
Published in Human molecular genetics (15.12.2012)
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Paediatric neurocysticercosis in high income countries
Babu, Indhumathi, R Howard-Jones, Annaleise, Goetti, Robert, P Menezes, Manoj, Arbuckle, Susan, N Britton, Philip
Published in European journal of paediatric neurology (01.07.2022)
Published in European journal of paediatric neurology (01.07.2022)
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C. elegans model of riboflavin transporter deficiency (RTD) disorder reveals deficits in synaptic transmission and movement
Narayanan, Ramesh K., Perez-siles, Gonzalo, Marzec, Kamila A., Boyling, Alexandra, Neumann, Brent, Menezes, Manoj P., Kennerson, Marina L.
Published in Genes & diseases (01.07.2024)
Published in Genes & diseases (01.07.2024)
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Genetic, Radiologic and Clinical Variability in Brown-Vialetto-Van Laere Syndrome
Woodcock, Ian R., MBBS MRCPCH MSc, Menezes, Manoj P., MBBS FRACP PhD, Coleman, Lee, MBCHB FRANZCR BSc, Yaplito-Lee, Joy, MD FRACP, Peters, Heidi, MBBS FRACP PhD, White, Susan M., MBBS FRACP, Stapleton, Rachel, MBBS, Phelan, Dean G., BSc, Chong, Belinda, PhD, Lunke, Sebastian, PhD, Stark, Zornitza, BM BCh FRACP MA, Pitt, James, PhD FFSc(RCPA), Ryan, Monique M., MBBS FRACP MMed, Robertson, Colin, MBBS FRACP MSc MD, Yiu, Eppie M., MBBS FRACP PhD
Published in Seminars in pediatric neurology (01.07.2018)
Published in Seminars in pediatric neurology (01.07.2018)
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Whole Genome Sequencing Identifies a 78 kb Insertion from Chromosome 8 as the Cause of Charcot-Marie-Tooth Neuropathy CMTX3
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
Published in PLoS genetics (01.07.2016)
Published in PLoS genetics (01.07.2016)
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CSF neopterin and quinolinic acid are biomarkers of neuroinflammation and neurotoxicity in FIRES and other infection‐triggered encephalopathy syndromes
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
Published in Annals of clinical and translational neurology (01.08.2023)
Published in Annals of clinical and translational neurology (01.08.2023)
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Decreased cerebrospinal fluid kynurenic acid in epileptic spasms: A biomarker of response to corticosteroids
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.
Published in EBioMedicine (01.10.2022)
Published in EBioMedicine (01.10.2022)
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Refining clinical trial inclusion criteria to optimize the standardized response mean of the CMTPedS
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
Published in Annals of clinical and translational neurology (01.09.2020)
Published in Annals of clinical and translational neurology (01.09.2020)
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Gain-of-function mutations in IFIH1 cause a spectrum of human disease phenotypes associated with upregulated type I interferon signaling
Rice, Gillian I, del Toro Duany, Yoandris, Jenkinson, Emma M, Forte, Gabriella M A, 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 J V, 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
Published in Nature genetics (01.05.2014)
Published in Nature genetics (01.05.2014)
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Long-term outcomes in children with riboflavin transporter deficiency and surveillance recommendations
Fennessy, Jack R, Cornett, Kayla M D, Donlevy, Gabrielle A, Mckay, Marnee J, Burns, Joshua, Menezes, Manoj P
Published in Developmental medicine and child neurology (09.09.2024)
Published in Developmental medicine and child neurology (09.09.2024)
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Journal Article
Benefit of high-dose oral riboflavin therapy in Riboflavin Transporter Deficiency
Fennessy, Jack R, Cornett, Kayla M D, Burns, Joshua, Menezes, Manoj P
Published in Journal of the peripheral nervous system (01.09.2023)
Published in Journal of the peripheral nervous system (01.09.2023)
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Journal Article
Gait patterns of children and adolescents with Charcot-Marie-Tooth disease
Wojciechowski, Elizabeth, Sman, Amy, Cornett, Kayla, Raymond, Jacqueline, Refshauge, Kathryn, Menezes, Manoj P, Burns, Joshua
Published in Gait & posture (01.07.2017)
Published in Gait & posture (01.07.2017)
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Nusinersen for SMA: expanded access programme
Farrar, Michelle A, Teoh, Hooi Ling, Carey, Kate A, Cairns, Anita, Forbes, Robin, Herbert, Karen, Holland, Sandra, Jones, Kristi J, Menezes, Manoj P, Morrison, Margot, Munro, Kate, Villano, Daniella, Webster, Richard, Woodcock, Ian R, Yiu, Eppie M, Sampaio, Hugo, Ryan, Monique M
Published in Journal of neurology, neurosurgery and psychiatry (01.09.2018)
Published in Journal of neurology, neurosurgery and psychiatry (01.09.2018)
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