Genetic and phenotypic characterization of NKX6‐2‐related spastic ataxia and hypomyelination von Chelban, V., Alsagob, M., Kloth, K., Chirita‐Emandi, A., Vandrovcova, J., Maroofian, R., Davagnanam, I., Bakhtiari, S., AlSayed, M. D., Rahbeeni, Z., AlZaidan, H., Malintan, N. T., Johannsen, J., Efthymiou, S., Ghayoor Karimiani, E., Mankad, K., Al‐Shahrani, S. A., Beiraghi Toosi, M., AlShammari, M., Groppa, S., Haridy, N. A., AlQuait, L., Qari, A., Huma, R., Salih, M. A., Almass, R., Almutairi, F. B., Hamad, M. H., Alorainy, I. A., Ramzan, K., Imtiaz, F., Puiu, M., Kruer, M. C., Bierhals, T., Wood, N. W., Colak, D., Houlden, H., Kaya, N.

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Diagnosis Across the Spectrum of Progressive Supranuclear Palsy and Corticobasal Syndrome von Jabbari, Edwin, Holland, Negin, Chelban, Viorica, Jones, P. Simon, Lamb, Ruth, Rawlinson, Charlotte, Guo, Tong, Costantini, Alyssa A, Tan, Manuela M. X, Heslegrave, Amanda J, Roncaroli, Federico, Klein, Johannes C, Ansorge, Olaf, Allinson, Kieren S. J, Jaunmuktane, Zane, Holton, Janice L, Revesz, Tamas, Warner, Thomas T, Lees, Andrew J, Zetterberg, Henrik, Russell, Lucy L, Bocchetta, Martina, Rohrer, Jonathan D, Williams, Nigel M, Grosset, Donald G, Burn, David J, Pavese, Nicola, Gerhard, Alexander, Kobylecki, Christopher, Leigh, P. Nigel, Church, Alistair, Hu, Michele T. M, Woodside, John, Houlden, Henry, Rowe, James B, Morris, Huw R

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Neurofilament light levels predict clinical progression and death in multiple system atrophy von Chelban, Viorica, Nikram, Elham, Perez-Soriano, Alexandra, Wilke, Carlo, Foubert-Samier, Alexandra, Vijiaratnam, Nirosen, Guo, Tong, Jabbari, Edwin, Olufodun, Simisola, Gonzalez, Mariel, Senkevich, Konstantin, Laurens, Brice, Péran, Patrice, Rascol, Olivier, Le Traon, Anne Pavy, Todd, Emily G, Costantini, Alyssa A, Alikhwan, Sondos, Tariq, Ambreen, Ng, Bai Lin, Muñoz, Esteban, Painous, Celia, Compta, Yaroslau, Junque, Carme, Segura, Barbara, Zhelcheska, Kristina, Wellington, Henny, Schöls, Ludger, Jaunmuktane, Zane, Kobylecki, Christopher, Church, Alistair, Hu, Michele T M, Rowe, James B, Leigh, P Nigel, Massey, Luke, Burn, David J, Pavese, Nicola, Foltynie, Tom, Pchelina, Sofya, Wood, Nicholas, Heslegrave, Amanda J, Zetterberg, Henrik, Bocchetta, Martina, Rohrer, Jonathan D, Marti, Maria J, Synofzik, Matthis, Morris, Huw R, Meissner, Wassilios G, Houlden, Henry

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Progression of atypical parkinsonian syndromes: PROSPECT-M-UK study implications for clinical trials von Street, Duncan, Jabbari, Edwin, Costantini, Alyssa, Jones, P Simon, Holland, Negin, Rittman, Timothy, Jensen, Marte T, Chelban, Viorica, Goh, Yen Y, Guo, Tong, Heslegrave, Amanda J, Roncaroli, Federico, Klein, Johannes C, Ansorge, Olaf, Allinson, Kieren S J, Jaunmuktane, Zane, Revesz, Tamas, Warner, Thomas T, Lees, Andrew J, Zetterberg, Henrik, Russell, Lucy L, Bocchetta, Martina, Rohrer, Jonathan D, Burn, David J, Pavese, Nicola, Gerhard, Alexander, Kobylecki, Christopher, Leigh, P Nigel, Church, Alistair, Hu, Michele T M, Houlden, Henry, Morris, Huw, Rowe, James B

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Clinical and Genetic analysis of Egyptian hereditary spastic paraplegia using next generation sequencing von Haridy, N.A., Chelban, V., Vandrovcova, J., Efthymiou, S., Abd El-Hamed, M.A., Hamed, S.A., Houlden, H.

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OD07 - Clinical and Genetic analysis of Egyptian hereditary spastic paraplegia using next generation sequencing von Haridy, N.A., Chelban, V., Vandrovcova, J., Efthymiou, S., Abd El-Hamed, M.A., Hamed, S.A., Houlden, H.

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Mitochondria function associated genes contribute to Parkinson’s Disease risk and later age at onset von Billingsley, Kimberley J., Barbosa, Ines A., Bandrés-Ciga, Sara, Quinn, John P., Bubb, Vivien J., Deshpande, Charu, Botia, Juan A., Reynolds, Regina H., Zhang, David, Simpson, Michael A., Blauwendraat, Cornelis, Gan-Or, Ziv, Gibbs, J. Raphael, Nalls, Mike A., Singleton, Andrew, Ryten, Mina, Koks, Sulev

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Mutations in nkx6-2 cause progressive spastic-ataxia and hypomyelination von Chelban, V., Vandrovcova, J., Lynch, D.S., Zanetti, N., Patel, N., Ryten, M., Botía, J.A., Eftymiou, S., Davagnanam, I., Wood, N., Rothman, J.E., Alkuraya, F.S., Houlden, H.

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Investigation of somatic CNVs in brains of synucleinopathy cases using targeted SNCA analysis and single cell sequencing von Perez-Rodriguez, D, Kalyva, M, Leija-Salazar, M, Lashley, T, Tarabichi, M, Chelban, V, Gentleman, S, Schottlaender, L, Franklin, H, Vasmatzis, G, Houlden, H, Schapira, AHV, Warner, TT, Holton, JL, Jaunmuktane, Z, Proukakis, C

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Un cas de syndrome héréditaire hyperferritinémie et cataracte (SHHC) von Chelban, V., Rosenstingl, S., Gatfossé, M.

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LRP10 in alpha-synucleinopathies von Pihlstrom, L, Schottlaender, L, Chelban, V, Houlden, H

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An update on MSA: premotor and non-motor features open a window of opportunities for early diagnosis and intervention von Chelban, V, Catereniuc, D, Aftene, D, Gasnas, A, Vichayanrat, E, Iodice, V, Groppa, S, Houlden, H

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RFC1-related ataxia is a mimic of early multiple system atrophy von Sullivan, R, Yau, WY, Chelban, V, Rossi, S, Dominik, N, O'Connor, E, Hardy, J, Wood, N, Cortese, A, Houlden, H

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An update on advances in magnetic resonance imaging of multiple system atrophy von Chelban, V, Bocchetta, M, Hassanein, S, Haridy, NA, Houlden, H, Rohrer, JD

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Bi-allelic genetic variants in the translational GTPases GTPBP1 and GTPBP2 cause a distinct identical neurodevelopmental syndrome von Salpietro, V, Maroofian, R, Zaki, MS, Wangen, J, Ciolfi, A, Barresi, S, Efthymiou, S, Lamaze, A, Aughey, GN, Al Mutairi, F, Rad, A, Rocca, C, Calì, E, Accogli, A, Zara, F, Striano, P, Mojarrad, M, Tariq, H, Giacopuzzi, E, Taylor, JC, Oprea, G, Skrahina, V, Rehman, KU, Abd Elmaksoud, M, Bassiony, M, El Said, HG, Abdel-Hamid, MS, Al Shalan, M, Seo, G, Kim, S, Lee, H, Khang, R, Issa, MY, Elbendary, HM, Rafat, K, Marinakis, NM, Traeger-Synodinos, J, Ververi, A, Sourmpi, M, Eslahi, A, Khadivi Zand, F, Beiraghi Toosi, M, Babaei, M, Jackson, A, Hannah, MG, Bugiardini, E, Bertini, E, Kriouile, Y, El-Khorassani, M, Aguennouz, M, Groppa, S, Karashova, BM, Goraya, JS, Sultan, T, Avdjieva, D, Kathom, H, Tincheva, R, Banu, S, Veggiotti, P, Verrotti, A, Lanari, M, Savasta, S, Macaya, A, Garavaglia, B, Borgione, E, Papacostas, S, Vikelis, M, Chelban, V, Kaiyrzhanov, R, Cortese, A, Sullivan, R, Papanicolaou, EZ, Dardiotis, E, Maqbool, S, Ibrahim, S, Kirmani, S, Rana, NN, Atawneh, O, Lim, SY, Zuccotti, GV, Marseglia, GL, Esposito, S, Shaikh, F, Cogo, P, Corsello, G, Mangano, S, Nardello, R, Mangano, D, Scardamaglia, A, Koutsis, G, Scuderi, C, Ferrara, P, Morello, G, Zollo, M, Berni-Canani, R, Terracciano, LM, Sisto, A, Di Fabio, S, Strano, F, Scorrano, G

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A novel frameshift deletion in autosomal recessive SBF1-related syndromic neuropathy with necklace fibres von Gang, Q, Bettencourt, C, Holton, J, Lovejoy, C, Chelban, V, Oconnor, E, Yuan, Y, Reilly, MM, Hanna, M, Houlden, H

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Lysosomal storage disorder gene variants in multiple system atrophy von Pihlstrom, L, Schottlaender, L, Chelban, V, Meissner, WG, Federoff, M, Singleton, A, Houlden, H

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GLS loss of function causes autosomal recessive spastic ataxia and optic atrophy von Lynch, DS, Chelban, V, Vandrovcova, J, Pittman, A, Wood, NW, Houlden, H

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Low Prevalence of NOTCH2NLC GGC Repeat Expansion in White Patients With Movement Disorders von Yau, WY, Vandrovcova, J, Sullivan, R, Chen, Z, Zecchinelli, A, Cilia, R, Stefano, D, Murray, M, Carmona, S, Genomics England Research Consortium, Chelban, V, Ishiura, H, Tsuji, S, Jaunmuktane, Z, Turner, C, Wood, NW, Houlden, H

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Mitochondrial DNA analysis from exome sequencing data improves the diagnostic yield in neurological diseases von Poole, OV, Pizzamiglio, C, Murphy, D, Falabella, M, Macken, WL, Bugiardini, E, Woodward, CE, Labrum, R, Efthymiou, S, Salpietro, V, Chelban, V, Kaiyrzhanov, R, Maroofian, R, SYNaPS Study Group, Amato, AA, Gregory, A, Hayflick, SJ, Genomics, QS, Jonvik, H, Wood, N, Houlden, H, Vandrovcova, J, Hanna, MG, Pittman, A, Pitceathly, RDS

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