Next-generation sequencing in Charcot–Marie–Tooth disease: opportunities and challenges
Pipis, Menelaos, Rossor, Alexander M., Laura, Matilde, Reilly, Mary M.
Published in Nature reviews. Neurology (01.11.2019)
Published in Nature reviews. Neurology (01.11.2019)
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Journal Article
Charcot-Marie-Tooth disease and related disorders: an evolving landscape
Laurá, Matilde, Pipis, Menelaos, Rossor, Alexander M, Reilly, Mary M
Published in Current opinion in neurology (01.10.2019)
Published in Current opinion in neurology (01.10.2019)
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Journal Article
Biallelic expansion of an intronic repeat in RFC1 is a common cause of late-onset ataxia
Cortese, Andrea, Simone, Roberto, Sullivan, Roisin, Vandrovcova, Jana, Tariq, Huma, Yau, Wai Yan, Humphrey, Jack, Jaunmuktane, Zane, Sivakumar, Prasanth, Polke, James, Ilyas, Muhammad, Tribollet, Eloise, Tomaselli, Pedro J., Devigili, Grazia, Callegari, Ilaria, Versino, Maurizio, Salpietro, Vincenzo, Efthymiou, Stephanie, Kaski, Diego, Wood, Nick W., Andrade, Nadja S., Buglo, Elena, Rebelo, Adriana, Rossor, Alexander M., Bronstein, Adolfo, Fratta, Pietro, Marques, Wilson J., Züchner, Stephan, Reilly, Mary M., Houlden, Henry
Published in Nature genetics (01.04.2019)
Published in Nature genetics (01.04.2019)
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Journal Article
Clinical implications of genetic advances in Charcot–Marie–Tooth disease
Rossor, Alexander M., Polke, James M., Houlden, Henry, Reilly, Mary M.
Published in Nature reviews. Neurology (01.10.2013)
Published in Nature reviews. Neurology (01.10.2013)
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Journal Article
Neurofascin antibodies in autoimmune, genetic, and idiopathic neuropathies
Burnor, Elisabeth, Yang, Li, Zhou, Hao, Patterson, Kristina R, Quinn, Colin, Reilly, Mary M, Rossor, Alexander M, Scherer, Steven S, Lancaster, Eric
Published in Neurology (02.01.2018)
Published in Neurology (02.01.2018)
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Journal Article
Recent advances in the genetic neuropathies
Rossor, Alexander M, Tomaselli, Pedro J, Reilly, Mary M
Published in Current opinion in neurology (01.10.2016)
Published in Current opinion in neurology (01.10.2016)
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Journal Article
Charcot–Marie–Tooth disease: frequency of genetic subtypes and guidelines for genetic testing
Murphy, Sinead M, Laura, Matilde, Fawcett, Katherine, Pandraud, Amelie, Liu, Yo-Tsen, Davidson, Gabrielle L, Rossor, Alexander M, Polke, James M, Castleman, Victoria, Manji, Hadi, Lunn, Michael P T, Bull, Karen, Ramdharry, Gita, Davis, Mary, Blake, Julian C, Houlden, Henry, Reilly, Mary M
Published in Journal of neurology, neurosurgery and psychiatry (01.07.2012)
Published in Journal of neurology, neurosurgery and psychiatry (01.07.2012)
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Journal Article
Peripheral neuropathy in complex inherited diseases: an approach to diagnosis
Rossor, Alexander M, Carr, Aisling S, Devine, Helen, Chandrashekar, Hoskote, Pelayo-Negro, Ana Lara, Pareyson, Davide, Shy, Michael E, Scherer, Steven S, Reilly, Mary M
Published in Journal of neurology, neurosurgery and psychiatry (01.10.2017)
Published in Journal of neurology, neurosurgery and psychiatry (01.10.2017)
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Journal Article
Clinical and genetic characterization of leukoencephalopathies in adults
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
Published in Brain (London, England : 1878) (01.05.2017)
Published in Brain (London, England : 1878) (01.05.2017)
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Journal Article
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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Journal Article
A practical approach to the genetic neuropathies
Rossor, Alexander M, Evans, Matthew R B, Reilly, Mary M
Published in Practical Neurology (01.06.2015)
Published in Practical Neurology (01.06.2015)
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Journal Article
Book Review
Loss of BICD2 in muscle drives motor neuron loss in a developmental form of spinal muscular atrophy
Rossor, Alexander M, Sleigh, James N, Groves, Michael, Muntoni, Francesco, Reilly, Mary M, Hoogenraad, Casper C, Schiavo, Giampietro
Published in Acta neuropathologica communications (17.03.2020)
Published in Acta neuropathologica communications (17.03.2020)
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Journal Article
A Dominant Mutation in FBXO38 Causes Distal Spinal Muscular Atrophy with Calf Predominance
Sumner, Charlotte J., d’Ydewalle, Constantin, Wooley, Joe, Fawcett, Katherine A., Hernandez, Dena, Gardiner, Alice R., Kalmar, Bernadett, Baloh, Robert H., Gonzalez, Michael, Züchner, Stephan, Stanescu, Horia C., Kleta, Robert, Mankodi, Ami, Cornblath, David R., Boylan, Kevin B., Reilly, Mary M., Greensmith, Linda, Singleton, Andrew B., Harms, Matthew B., Rossor, Alexander M., Houlden, Henry
Published in American journal of human genetics (07.11.2013)
Published in American journal of human genetics (07.11.2013)
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Journal Article
BAG3 mutations: another cause of giant axonal neuropathy
Jaffer, Fatima, Murphy, Sinéad M., Scoto, Mariacristina, Healy, Estelle, Rossor, Alexander M., Brandner, Sebastian, Phadke, Rahul, Selcen, Duygu, Jungbluth, Heinz, Muntoni, Francesco, Reilly, Mary M.
Published in Journal of the peripheral nervous system (01.06.2012)
Published in Journal of the peripheral nervous system (01.06.2012)
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Journal Article
Axonal transport and neurological disease
Sleigh, James N., Rossor, Alexander M., Fellows, Alexander D., Tosolini, Andrew P., Schiavo, Giampietro
Published in Nature reviews. Neurology (01.12.2019)
Published in Nature reviews. Neurology (01.12.2019)
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Journal Article
Lower limb muscle MRI fat fraction is a responsive outcome measure in CMT X1, 1B and 2A
Doherty, Carolynne M., Morrow, Jasper M., Zuccarino, Riccardo, Howard, Paige, Wastling, Stephen, Pipis, Menelaos, Zafeiropoulos, Nick, Stephens, Katherine J., Grider, Tiffany, Feely, Shawna M. E., Nopoulous, Peggy, Skorupinska, Mariola, Milev, Evelin, Nicolaisen, Emma, Dudzeic, Magdalena, McDowell, Amy, Dilek, Nuran, Muntoni, Francesco, Rossor, Alexander M., Shah, Sachit, Laura, Matilde, Yousry, Tarek A., Thedens, Daniel, Thornton, John, Shy, Michael E., Reilly, Mary M.
Published in Annals of clinical and translational neurology (01.03.2024)
Published in Annals of clinical and translational neurology (01.03.2024)
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Journal Article
Transmembrane protease serine 5: a novel Schwann cell plasma marker for CMT1A
Wang, Hongge, Davison, Matthew, Wang, Kathryn, Xia, Tai‐He, Kramer, Martin, Call, Katherine, Luo, Jun, Wu, Xingyao, Zuccarino, Riccardo, Bacon, Chelsea, Bai, Yunhong, Moran, John J., Gutmann, Laurie, Feely, Shawna M. E., Grider, Tiffany, Rossor, Alexander M., Reilly, Mary M., Svaren, John, Shy, Michael E.
Published in Annals of clinical and translational neurology (01.01.2020)
Published in Annals of clinical and translational neurology (01.01.2020)
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