Quantitative muscle ultrasound as a biomarker in Charcot-Marie-Tooth neuropathy von Shahrizaila, N, Noto, Y, Simon, NG, Huynh, W, Shibuya, K, Matamala, JM, Dharmadasa, T, Devenney, E, Kennerson, ML, Nicholson, GA, Kiernan, MC

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Energy metabolism and mitochondrial defects in X-linked Charcot-Marie-Tooth (CMTX6) iPSC-derived motor neurons with the p.R158H PDK3 mutation von Perez-Siles, G., Cutrupi, A., Ellis, M., Screnci, R., Mao, D., Uesugi, M., Yiu, Eppie M., Ryan, Monique M., Choi, B. O., Nicholson, G., Kennerson, M. L.

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A Compound Heterozygous Mutation in Calpain 1 Identifies a New Genetic Cause for Spinal Muscular Atrophy Type 4 (SMA4) von Perez-Siles, G, Ellis, M, Ashe, A, Grosz, B, Vucic, S, Kiernan, M C, Morris, K A, Reddel, S W, Kennerson, M L

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Charcot-Marie-Tooth with pyramidal signs is genetically heterogeneous : Families with and without MFN2 mutations von ZHU, D, KENNERSON, M. L, WALIZADA, G, ZÜCHNER, S, VANCE, J. M, NICHOLSON, G. A

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Mutation analysis of genes within the dynactin complex in a cohort of hereditary peripheral neuropathies von Tey, S., Ahmad-Annuar, A., Drew, A.P., Shahrizaila, N., Nicholson, G.A., Kennerson, M.L.

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A new locus for X-linked dominant Charcot-Marie-Tooth disease (CMTX6) is caused by mutations in the pyruvate dehydrogenase kinase isoenzyme 3 (PDK3) gene von Kennerson, Marina L, Yiu, Eppie M, Chuang, David T, Kidambi, Aditi, Tso, Shih-Chia, Ly, Carolyn, Chaudhry, Rabia, Drew, Alexander P, Rance, Gary, Delatycki, Martin B, Züchner, Stephan, Ryan, Monique M, Nicholson, Garth A

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Phenotypic spectrum of dynamin 2 mutations in Charcot-Marie-Tooth neuropathy von Claeys, Kristl G., Züchner, Stephan, Kennerson, Marina, Berciano, José, Garcia, Antonio, Verhoeven, Kristien, Storey, Elsdon, Merory, John R., Bienfait, Henriette M. E., Lammens, Martin, Nelis, Eva, Baets, Jonathan, De Vriendt, Els, Berneman, Zwi N., De Veuster, Ilse, Vance, Jefferey M., Nicholson, Garth, Timmerman, Vincent, De Jonghe, Peter

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A Locus for Hereditary Sensory Neuropathy with Cough and Gastroesophageal Reflux on Chromosome 3p22-p24 von Kok, C., Kennerson, M.L., Spring, P.J., Ing, A.J., Pollard, J.D., Nicholson, G.A.

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Proof of genetic heterogeneity in X-linked Charcot-Marie-Tooth disease von HUTTNER, I. G, KENNERSON, M. L, REDDEL, S. W, RADOVANOVIC, D, NICHOLSON, G. A

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A new autosomal dominant pure cerebellar ataxia von STOREY, E, GARDNER, R. J. M, KNIGHT, M. A, KENNERSON, M. L, TUCK, R. R, FORREST, S. M, NICHOLSON, G. A

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X-linked distal hereditary motor neuropathy maps to the DSMAX locus on chromosome Xq13.1-q21 von Kennerson, M, Nicholson, G, Kowalski, B, Krajewski, K, El-Khechen, D, Feely, S, Chu, S, Shy, M, Garbern, J

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Dominant Intermediate Charcot-Marie-Tooth Neuropathy Maps to Chromosome 19p12-p13.2 von Kennerson, M.L., Zhu, D., Gardner, R.J.M., Storey, E., Merory, J., Robertson, S.P., Nicholson, G.A.

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D.O.5 A combination of linkage analysis and exome sequencing identifies a new gene for X-linked Charcot–Marie–Tooth neuropathy von Kennerson, M, Yiu, E, Chuang, D, Tso, S, Ly, C, Kidambi, A, Ryan, M, Nicholson, G

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Characterization of molecular mechanisms underlying the axonal Charcot-Marie-Tooth neuropathy caused by MORC2 mutations von Sancho, Paula, Bartesaghi, Luca, Miossec, Olivia, García-García, Francisco, Ramírez-Jiménez, Laura, Siddell, Anna, Åkesson, Elisabet, Hedlund, Eva, Laššuthová, Petra, Pascual-Pascual, Samuel I, Sevilla, Teresa, Kennerson, Marina, Lupo, Vincenzo, Chrast, Roman, Espinós, Carmen

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A frame shift mutation in the PMP22 gene in hereditary neuropathy with liability to pressure palsies von Nicholson, Garth A, Valentijn, Linda J, Cherryson, Annia K, Kennerson, Marina L, Bragg, Tara L, DeKroon, Robert M, Ross, David A, Pollard, John D, Mcleod, James G, Bolhuis, Pieter A, Baas, Frank

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Autosomal dominant juvenile amyotrophic lateral sclerosis and distal hereditary motor neuronopathy with pyramidal tract signs: synonyms for the same disorder? von DE JONGHE, P, AUER-GRUMBACH, M, HARTUNG, H.-P, TIMMERMAN, V, IROBI, J, WAGNER, K, PLECKO, B, KENNERSON, M, ZHU, D, DE VRIENDT, E, VAN GERWEN, V, NICHOLSON, G

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The gene for hereditary sensory neuropathy type I (HSN-I) maps to chromosome 9q22.1-q22.3 von Blair, Ian P, Gordon, Melissa J, Bananis, Tessy, Kennerson, Marina L, Nicholson, Garth A, Nash, Janet, Dawkins, Jennifer L, Cherryson, Annia K

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Mutations in the pleckstrin homology domain of dynamin 2 cause dominant intermediate Charcot-Marie-Tooth disease von Züchner, Stephan, Noureddine, Maher, Kennerson, Marina, Verhoeven, Kristien, Claeys, Kristl, Jonghe, Peter De, Merory, John, Oliveira, Sofia A, Speer, Marcy C, Stenger, Judith E, Walizada, Gina, Zhu, Danqing, Pericak-Vance, Margaret A, Nicholson, Garth, Timmerman, Vincent, Vance, Jeffery M

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482P Closing the gap in diagnosis of neuropathies and late-onset neurological disorders – a trans-Australia collaboration von Laing, N., Kennerson, M., Lamont, P., Vucic, S., Davis, M., Bryson-Richardson, R., Ravenscroft, G., Perez-Siles, G., Ghaoui, R., Narayanan, R., McCombe, P., Deveson, I., Bryen, S., Grosz, B., Johari, M., Rick, A., Folland, C., Scriba, C., Parmar, J., Ellis, M.

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CMT with pyramidal features von VUCIC, S, KENNERSON, M, ZHU, D, MIEDEMA, E, KOK, C, NICHOLSON, G. A

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