Are we prepared for clinical trials in Charcot-Marie-Tooth disease? von Rossor, A.M., Shy, M.E., Reilly, M.M.

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Recent advances in the genetic neuropathies von Rossor, Alexander M, Tomaselli, Pedro J, Reilly, Mary M

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Gene replacement therapy in a model of Charcot-Marie-Tooth 4C neuropathy von Schiza, Natasa, Georgiou, Elena, Kagiava, Alexia, Médard, Jean-Jacques, Richter, Jan, Tryfonos, Christina, Sargiannidou, Irene, Heslegrave, Amanda J, Rossor, Alexander M, Zetterberg, Henrik, Reilly, Mary M, Christodoulou, Christina, Chrast, Roman, Kleopa, Kleopas A

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Dysregulated mitophagy and mitochondrial organization in optic atrophy due to OPA1 mutations von Liao, Chunyan, Ashley, Neil, Diot, Alan, Morten, Karl, Phadwal, Kanchan, Williams, Andrew, Fearnley, Ian, Rosser, Lyndon, Lowndes, Jo, Fratter, Carl, Ferguson, David J.P., Vay, Laura, Quaghebeur, Gerardine, Moroni, Isabella, Bianchi, Stefania, Lamperti, Costanza, Downes, Susan M., Sitarz, Kamil S., Flannery, Padraig J., Carver, Janet, Dombi, Eszter, East, Daniel, Laura, Matilde, Reilly, Mary M., Mortiboys, Heather, Prevo, Remko, Campanella, Michelangelo, Daniels, Matthew J., Zeviani, Massimo, Yu-Wai-Man, Patrick, Simon, Anna Katharina, Votruba, Marcela, Poulton, Joanna

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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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Nerve conduction velocity in CMT1A: what else can we tell? von Manganelli, F., Pisciotta, C., Reilly, M. M., Tozza, S., Schenone, A., Fabrizi, G. M., Cavallaro, T., Vita, G., Padua, L., Gemignani, F., Laurà, M., Hughes, R. A. C., Solari, A., Pareyson, D., Santoro, L.

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RTN2 deficiency results in an autosomal recessive distal motor neuropathy with lower limb spasticity von Maroofian, R, Sarraf, P, O'Brien, TJ, Kamel, M, Cakar, A, Elkhateeb, N, Lau, T, Patil, SJ, Record, CJ, Horga, A, Essid, M, Selim, L, Benrhouma, H, Ben Younes, T, Zifarelli, G, Pagnamenta, AT, Bauer, P, Khundadze, M, Mirecki, A, Kamel, SM, Elmonem, MA, Karimiani, EG, Jamshidi, Y, Offiah, AC, Rossor, AM, Ben Youssef-Turki, I, Huebner, CA, Munot, P, Reilly, MM, Brown, AEX, Nagy, S, Houlden, H

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Pain and small fiber function in charcot-marie-tooth disease type 1A von Laurà, Matilde, Hutton, Elspeth J., Blake, Julian, Lunn, Michael P., Fox, Zoe, Pareyson, Davide, Solari, Alessandra, Radice, Davide, Koltzenburg, Martin, Reilly, Mary M.

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168th ENMC International Workshop: Outcome measures and clinical trials in Charcot–Marie–Tooth disease (CMT) von Reilly, M.M, Shy, M.E, Muntoni, F, Pareyson, D

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Correlative SICM-FCM reveals changes in morphology and kinetics of endocytic pits induced by disease-associated mutations in dynamin von Ali, T, Bednarska, J, Vassilopoulos, S, Tran, M, Diakonov, IA, Ziyadeh-Isleem, A, Guicheney, P, Gorelik, J, Korchev, YE, Reilly, MM, Bitoun, M, Shevchuk, A

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Mistargeting of SH3TC2 away from the recycling endosome causes Charcot–Marie–Tooth disease type 4C von Roberts, Rhys C., Peden, Andrew A., Buss, Folma, Bright, Nicholas A., Latouche, Morwena, Reilly, Mary M., Kendrick-Jones, John, Luzio, J. Paul

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Peripheral Nerve Amyloidosis von Reilly, Mary M, Staunton, Hugh

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Clinical, pathological and genetic characterization of hereditary sensory and autonomic neuropathy type 1 (HSAN I) von Houlden, Henry, King, Rosalind, Blake, Julian, Groves, Mike, Love, Seth, Woodward, Cathy, Hammans, Simon, Nicoll, James, Lennox, Graham, O'Donovan, Dominic G., Gabriel, Carolyn, Thomas, P. K., Reilly, Mary M.

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ELECTROLYTE IMBALANCE TRIGGERING RELAPSE OF INFLAMMATORY NEUROPATHY von Keshavan, A, Gandhi, S, Lunn, MP, Reilly, MM

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A novel RAB7 mutation associated with ulcero-mutilating neuropathy von Houlden, Henry, King, Rosalind H. M., Muddle, John R., Warner, Thomas T., Reilly, Mary M., Orrell, Richard W., Ginsberg, Lionel

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Axonal Charcot-Marie-Tooth disease: the fog is slowly lifting von Reilly, Mary M

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Clinical and genetic characterization of families with triple A (Allgrove) syndrome von Houlden, Henry, Smith, Stephen, de Carvalho, Mamede, Blake, Julian, Mathias, Christopher, Wood, Nicholas W., Reilly, Mary M.

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MFN2 DELETION FOUNDER MUTATION IN THE UK POPULATION von Carr, Aisling, Polke, JM, Wilson, J, Nanji, T, Laura, M, Pelayo, AL, Lecky, B, Vaughan, J, Rankin, J, Sweeny, M, Reilly, MM

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NEUROPATHY PHENOTYPE IN HEREDITARY TRANSTHYRETIN AMYLOIDOSIS von Carr, Aisling, Pelayo, Ana, Wechalekar, AD, Whelan, CJ, Gilmore, JD, Hawkins, PN, Reilly, MM

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WHY THE LONG FACE? von Carr, Aisling, Pelayo, AL, Whelan, CJ, Wechaleka, AD, Gilmore, JD, Hawkins, PN, Reilly, MM

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