Mutations in BICD2 Cause Dominant Congenital Spinal Muscular Atrophy and Hereditary Spastic Paraplegia von 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.

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Prenusinersen economic and health-related quality of life burden of spinal muscular atrophy von Chambers, Georgina M., Settumba, Stella Nalukwago, Carey, Kate A., Cairns, Anita, Menezes, Manoj P., Ryan, Monique, Farrar, Michelle A.

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Eye movement disorders are an early manifestation of CACNA1A mutations in children von 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

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Phenotypic Variability of Childhood Charcot-Marie-Tooth Disease von Cornett, Kayla MD, 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

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

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Feasibility of designing, manufacturing and delivering 3D printed ankle‐foot orthoses: a systematic review von Wojciechowski, Elizabeth, Chang, Angela Y., Balassone, Daniel, Ford, Jacqueline, Cheng, Tegan L., Little, David, Menezes, Manoj P., Hogan, Sean, Burns, Joshua

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An inherited TUBB2B mutation alters a kinesin-binding site and causes polymicrogyria, CFEOM and axon dysinnervation von 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

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Paediatric neurocysticercosis in high income countries von Babu, Indhumathi, R Howard-Jones, Annaleise, Goetti, Robert, P Menezes, Manoj, Arbuckle, Susan, N Britton, Philip

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Advances in the management of Charcot–Marie–Tooth disease in childhood von Menezes, Manoj P.

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C. elegans model of riboflavin transporter deficiency (RTD) disorder reveals deficits in synaptic transmission and movement von Narayanan, Ramesh K., Perez-siles, Gonzalo, Marzec, Kamila A., Boyling, Alexandra, Neumann, Brent, Menezes, Manoj P., Kennerson, Marina L.

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Genetic, Radiologic and Clinical Variability in Brown-Vialetto-Van Laere Syndrome von 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

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

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

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

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

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Clinical, Genetic, and Disability Profile of Pediatric Distal Hereditary Motor Neuropathy von Argente-Escrig, Herminia, Burns, Joshua, Donlevy, Gabrielle, Frasquet, Marina, Cornett, Kayla, Sevilla, Teresa, Menezes, Manoj P.

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Long-term outcomes in children with riboflavin transporter deficiency and surveillance recommendations von Fennessy, Jack R, Cornett, Kayla M D, Donlevy, Gabrielle A, Mckay, Marnee J, Burns, Joshua, Menezes, Manoj P

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

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Benefit of high-dose oral riboflavin therapy in Riboflavin Transporter Deficiency von Fennessy, Jack R, Cornett, Kayla M D, Burns, Joshua, Menezes, Manoj P

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Gait patterns of children and adolescents with Charcot-Marie-Tooth disease von Wojciechowski, Elizabeth, Sman, Amy, Cornett, Kayla, Raymond, Jacqueline, Refshauge, Kathryn, Menezes, Manoj P, Burns, Joshua

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