GGC Repeat Expansion in NOTCH2NLC Is Rare in European Leukoencephalopathy von Yau, Wai Yan, Sullivan, Roisin, Chen, Zhongbo, Lynch, David S., Vandrovcova, Jana, Wood, Nicholas W., Houlden, Henry

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De Novo Mutations in PDE10A Cause Childhood-Onset Chorea with Bilateral Striatal Lesions von Mencacci, Niccolò E., Kamsteeg, Erik-Jan, Nakashima, Kosuke, R’Bibo, Lea, Lynch, David S., Balint, Bettina, Willemsen, Michèl A.A.P., Adams, Matthew E., Wiethoff, Sarah, Suzuki, Kazunori, Davies, Ceri H., Ng, Joanne, Meyer, Esther, Veneziano, Liana, Giunti, Paola, Hughes, Deborah, Raymond, F. Lucy, Carecchio, Miryam, Zorzi, Giovanna, Nardocci, Nardo, Barzaghi, Chiara, Garavaglia, Barbara, Salpietro, Vincenzo, Hardy, John, Pittman, Alan M., Houlden, Henry, Kurian, Manju A., Kimura, Haruhide, Vissers, Lisenka E.L.M., Wood, Nicholas W., Bhatia, Kailash P.

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Adult-Onset Leukoencephalopathy With Axonal Spheroids and Pigmented Glia: Review of Clinical Manifestations as Foundations for Therapeutic Development von Papapetropoulos, Spyros, Pontius, Angela, Finger, Elizabeth, Karrenbauer, Virginija, Lynch, David S, Brennan, Matthew, Zappia, Samantha, Koehler, Wolfgang, Schoels, Ludger, Hayer, Stefanie N, Konno, Takuya, Ikeuchi, Takeshi, Lund, Troy, Orthmann-Murphy, Jennifer, Eichler, Florian, Wszolek, Zbigniew K

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Novel Kidins220/ARMS Splice Isoforms: Potential Specific Regulators of Neuronal and Cardiovascular Development von Schmieg, Nathalie, Thomas, Claire, Yabe, Arisa, Lynch, David S, Iglesias, Teresa, Chakravarty, Probir, Schiavo, Giampietro

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The Diagnostic Value of MRI Pattern Recognition in Distal Myopathies von Bugiardini, Enrico, Morrow, Jasper M, Shah, Sachit, Wood, Claire L, Lynch, David S, Pitmann, Alan M, Reilly, Mary M, Houlden, Henry, Matthews, Emma, Parton, Matt, Hanna, Michael G, Straub, Volker, Yousry, Tarek A

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An alternative therapeutic approach to haematopoetic stem cell transplantation in early cerebral adrenoleukodystrophy von Chataway, Jeremy, Wade, Charles, Murphy, Elaine, Lynch, David S

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Arginase 1 deficiency presenting as complicated hereditary spastic paraplegia von Freua, Fernando, Almeida, Mariana Espíndola de Castro, Nóbrega, Paulo Ribeiro, Paiva, Anderson Rodrigues Brandáo de, Della-Ripa, Bruno, Cunha, Paulina, Macedo-Souza, Lúcia Inês, Bueno, Clarissa, Lynch, David S, Houlden, Henry, Lucato, Leandro Tavares, Kok, Fernando

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Pembrolizumab for the treatment of progressive multifocal leukoencephalopathy following anti‐CD19 CAR‐T therapy: a case report von Mackenzie, Strachan, Shafat, Manar, Roddy, Harriet, Hyare, Harpreet, Neill, Lorna, Marzolini, Maria A. V., Gilhooley, Michael, Marafioti, Teresa, Kara, Eleanna, Sanchez, Emilie, Rees, Jeremy, Lynch, David S., Thomson, Kirsty, Ardeshna, Kirit M., Laurence, Arian, Peggs, Karl S., O'Reilly, Maeve, Roddie, Claire

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TTR associated leptomeningeal amyloidosis in a Sri Lankan patient von Muthukumarasamy, Mary, Vijayabala, Jeevagan, Tharmalingam, Thulasi, Ceravolo, Giorgia, Zhelcheska, Kristina, Houlden, Henry, Davagnanam, Indran, Reilly, Mary M., Lynch, David S.

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Monogenic small vessel diseases — rare but still important von Werring, David J., Lynch, David S.

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Angiogenin levels and ANG genotypes: dysregulation in amyotrophic lateral sclerosis von McLaughlin, Russell Lewis, Phukan, Julie, McCormack, William, Lynch, David S, Greenway, Matthew, Cronin, Simon, Saunders, Jean, Slowik, Agnieska, Tomik, Barbara, Andersen, Peter M, Bradley, Daniel G, Jakeman, Phil, Hardiman, Orla

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Genetic and phenotypic characterization of complex hereditary spastic paraplegia von Kara, Eleanna, Tucci, Arianna, Manzoni, Claudia, Lynch, David S, Elpidorou, Marilena, Bettencourt, Conceicao, Chelban, Viorica, Manole, Andreea, Hamed, Sherifa A, Haridy, Nourelhoda A, Federoff, Monica, Preza, Elisavet, Hughes, Deborah, Pittman, Alan, Jaunmuktane, Zane, Brandner, Sebastian, Xiromerisiou, Georgia, Wiethoff, Sarah, Schottlaender, Lucia, Proukakis, Christos, Morris, Huw, Warner, Tom, Bhatia, Kailash P, Korlipara, L V Prasad, Singleton, Andrew B, Hardy, John, Wood, Nicholas W, Lewis, Patrick A, Houlden, Henry

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Letter re: Mystery Case: CSF-1R mutation is a cause of intracranial cerebral calcifications, cysts, and leukoencephalopathy von Lynch, David S, Houlden, Henry

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Analysis of Mutations in AARS2 in a Series of CSF1R-Negative Patients With Adult-Onset Leukoencephalopathy With Axonal Spheroids and Pigmented Glia von Lynch, David S, Zhang, Wei Jia, Lakshmanan, Rahul, Kinsella, Justin A, Uzun, Günes Altiokka, Karbay, Merih, Tüfekçioglu, Zeynep, Hanagasi, Hasmet, Burke, Georgina, Foulds, Nicola, Hammans, Simon R, Bhattacharjee, Anupam, Wilson, Heather, Adams, Matthew, Walker, Mark, Nicoll, James A. R, Chataway, Jeremy, Fox, Nick, Davagnanam, Indran, Phadke, Rahul, Houlden, Henry

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CSF1R -Related Disorder: Prevalence of CSF1R Variants and Their Clinical Significance in the UK Population von Wade, Charles, Runeckles, Kyle, Chataway, Jeremy, Houlden, Henry, Lynch, David S

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Hereditary leukoencephalopathy with axonal spheroids: a spectrum of phenotypes from CNS vasculitis to parkinsonism in an adult onset leukodystrophy series von Lynch, David S, Jaunmuktane, Zane, Sheerin, Una-Marie, Phadke, Rahul, Brandner, Sebastian, Milonas, Ionnis, Dean, Andrew, Bajaj, Nin, McNicholas, Nuala, Costello, Daniel, Cronin, Simon, McGuigan, Chris, Rossor, Martin, Fox, Nick, Murphy, Elaine, Chataway, Jeremy, Houlden, Henry

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A rare cause of monogenic cerebral small vessel disease and stroke: Cathepsin A-related arteriopathy with strokes and leukoencephalopathy (CARASAL) von Budhdeo, Sanjay, de Paiva, Anderson Rodrigues Brandão, Wade, Charles, Lopes, Laura Cardia Gomes, Della-Ripa, Bruno, Davagnanam, Indran, Lucato, Leandro, Mummery, Catherine J., Kok, Fernando, Houlden, Henry, Werring, David J., Lynch, David S.

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Clinical and genetic characterization of leukoencephalopathies in adults von Lynch, David S, Rodrigues Brandão de Paiva, Anderson, Zhang, Wei Jia, Bugiardini, Enrico, Freua, Fernando, Tavares Lucato, Leandro, Macedo-Souza, Lucia Inês, Lakshmanan, Rahul, Kinsella, Justin A, Merwick, Aine, Rossor, Alexander M, Bajaj, Nin, Herron, Brian, McMonagle, Paul, Morrison, Patrick J, Hughes, Deborah, Pittman, Alan, Laurà, Matilde, Reilly, Mary M, Warren, Jason D, Mummery, Catherine J, Schott, Jonathan M, Adams, Matthew, Fox, Nick C, Murphy, Elaine, Davagnanam, Indran, Kok, Fernando, Chataway, Jeremy, Houlden, Henry

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Mutations in NKX6-2 Cause Progressive Spastic Ataxia and Hypomyelination von Chelban, Viorica, Patel, Nisha, Vandrovcova, Jana, Zanetti, M. Natalia, Lynch, David S., Ryten, Mina, Botía, Juan A., Bello, Oscar, Tribollet, Eloise, Efthymiou, Stephanie, Davagnanam, Indran, Bashiri, Fahad A., Wood, Nicholas W., Rothman, James E., Alkuraya, Fowzan S., Houlden, Henry

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Hereditary spastic paraplegia in Greece: characterisation of a previously unexplored population using next-generation sequencing von Lynch, David S, Koutsis, Georgios, Tucci, Arianna, Panas, Marios, Baklou, Markella, Breza, Marianthi, Karadima, Georgia, Houlden, Henry

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