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
Novel approaches to diagnosis and management of hereditary transthyretin amyloidosis
Carroll, Antonia, Dyck, P James, de Carvalho, Mamede, Kennerson, Marina, Reilly, Mary M, Kiernan, Matthew C, Vucic, Steve
Published in Journal of neurology, neurosurgery and psychiatry (01.06.2022)
Published in Journal of neurology, neurosurgery and psychiatry (01.06.2022)
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Journal Article
MRI biomarker assessment of neuromuscular disease progression: a prospective observational cohort study
Morrow, Jasper M, FRACP, Sinclair, Christopher D J, PhD, Fischmann, Arne, MD, Machado, Pedro M, MD, Reilly, Mary M, Prof, Yousry, Tarek A, Prof, Thornton, John S, PhD, Hanna, Michael G, Prof
Published in Lancet neurology (2016)
Published in Lancet neurology (2016)
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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
A Māori specific RFC1 pathogenic repeat configuration in CANVAS, likely due to a founder allele
Beecroft, Sarah J, Cortese, Andrea, Sullivan, Roisin, Yau, Wai Yan, Dyer, Zoe, Wu, Teddy Y, Mulroy, Eoin, Pelosi, Luciana, Rodrigues, Miriam, Taylor, Rachael, Mossman, Stuart, Leadbetter, Ruth, Cleland, James, Anderson, Tim, Ravenscroft, Gianina, Laing, Nigel G, Houlden, Henry, Reilly, Mary M, Roxburgh, Richard H
Published in Brain (London, England : 1878) (01.09.2020)
Published in Brain (London, England : 1878) (01.09.2020)
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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 novel RFC1 repeat motif (ACAGG) in two Asia-Pacific CANVAS families
Scriba, Carolin K, Beecroft, Sarah J, Clayton, Joshua S, Cortese, Andrea, Sullivan, Roisin, Yau, Wai Yan, Dominik, Natalia, Rodrigues, Miriam, Walker, Elizabeth, Dyer, Zoe, Wu, Teddy Y, Davis, Mark R, Chandler, David C, Weisburd, Ben, Houlden, Henry, Reilly, Mary M, Laing, Nigel G, Lamont, Phillipa J, Roxburgh, Richard H, Ravenscroft, Gianina
Published in Brain (London, England : 1878) (01.10.2020)
Published in Brain (London, England : 1878) (01.10.2020)
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Journal Article
Charcot-Marie-Tooth disease
Reilly, Mary M., Murphy, Sinéad M., Laurá, Matilde
Published in Journal of the peripheral nervous system (01.03.2011)
Published in Journal of the peripheral nervous system (01.03.2011)
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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
Differentiating lower motor neuron syndromes
Garg, Nidhi, Park, Susanna B, Vucic, Steve, Yiannikas, Con, Spies, Judy, Howells, James, Huynh, William, Matamala, José M, Krishnan, Arun V, Pollard, John D, Cornblath, David R, Reilly, Mary M, Kiernan, Matthew C
Published in Journal of Neurology, Neurosurgery and Psychiatry (01.06.2017)
Published in Journal of Neurology, Neurosurgery and Psychiatry (01.06.2017)
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Journal Article
Book Review
Hereditary Sensory Neuropathy Type 1 Is Caused by the Accumulation of Two Neurotoxic Sphingolipids
Penno, Anke, Reilly, Mary M., Houlden, Henry, Laurá, Matilde, Rentsch, Katharina, Niederkofler, Vera, Stoeckli, Esther T., Nicholson, Garth, Eichler, Florian, Brown, Robert H., von Eckardstein, Arnold, Hornemann, Thorsten
Published in The Journal of biological chemistry (09.04.2010)
Published in The Journal of biological chemistry (09.04.2010)
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Journal Article
KIF1A, an Axonal Transporter of Synaptic Vesicles, Is Mutated in Hereditary Sensory and Autonomic Neuropathy Type 2
Rivière, Jean-Baptiste, Ramalingam, Siriram, Lavastre, Valérie, Shekarabi, Masoud, Holbert, Sébastien, Lafontaine, Julie, Srour, Myriam, Merner, Nancy, Rochefort, Daniel, Hince, Pascale, Gaudet, Rébecca, Mes-Masson, Anne-Marie, Baets, Jonathan, Houlden, Henry, Brais, Bernard, Nicholson, Garth A., Van Esch, Hilde, Nafissi, Shahriar, De Jonghe, Peter, Reilly, Mary M., Timmerman, Vincent, Dion, Patrick A., Rouleau, Guy A.
Published in American journal of human genetics (12.08.2011)
Published in American journal of human genetics (12.08.2011)
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Journal Article
Truncating and Missense Mutations in IGHMBP2 Cause Charcot-Marie Tooth Disease Type 2
Cottenie, Ellen, Kochanski, Andrzej, Jordanova, Albena, Bansagi, Boglarka, Zimon, Magdalena, Horga, Alejandro, Jaunmuktane, Zane, Saveri, Paola, Rasic, Vedrana Milic, Baets, Jonathan, Bartsakoulia, Marina, Ploski, Rafal, Teterycz, Pawel, Nikolic, Milos, Quinlivan, Ros, Laura, Matilde, Sweeney, Mary G., Taroni, Franco, Lunn, Michael P., Moroni, Isabella, Gonzalez, Michael, Hanna, Michael G., Bettencourt, Conceicao, Chabrol, Elodie, Franke, Andre, von Au, Katja, Schilhabel, Markus, Kabzińska, Dagmara, Hausmanowa-Petrusewicz, Irena, Brandner, Sebastian, Lim, Siew Choo, Song, Haiwei, Choi, Byung-Ok, Horvath, Rita, Chung, Ki-Wha, Zuchner, Stephan, Pareyson, Davide, Harms, Matthew, Reilly, Mary M., Houlden, Henry
Published in American journal of human genetics (06.11.2014)
Published in American journal of human genetics (06.11.2014)
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Journal Article
Reliability of the CMT neuropathy score (second version) in Charcot-Marie-Tooth disease
Murphy, Sinéad M., Herrmann, David N., McDermott, Michael P., Scherer, Steven S., Shy, Michael E., Reilly, Mary M., Pareyson, Davide
Published in Journal of the peripheral nervous system (01.09.2011)
Published in Journal of the peripheral nervous system (01.09.2011)
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Journal Article