Items where Author is "Houlden, H"

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Number of items: 5.

Article

Granger, N and Feliu-Pascual, A and Spicer, C and Ricketts, S and Hitti, R and Forman, O and Hersheson, J and Houlden, H (2019) Charcot-Marie-Tooth type 4B2 demyelinating neuropathy in miniature Schnauzer dogs caused by a novel splicing SBF2 (MTMR13) genetic variant: a new spontaneous clinical model. PeerJ, 7. e7983.

Manole, A and Jaunmuktane, Z and Hargreaves, I and Ludtmann, M H R and Pandraud, A and Salpietro, V and Pope, S and Horga, A and Scalco, R S and Li, A and Ashokkumar, B and Lourenço, C M and Horvath, R and Chinnery, P F and Toro, C and Singleton, A B and Abramov, A Y and Muntoni, F and Hanna, F G and Reilly, M M and Revesz, T and Kullman, N D M and Jepson, J E C and Houlden, H (2017) Clinical, pathological and functional characterization of riboflavin-responsive neuropathy. BRAIN, 140 (11). pp. 2820-2837.

Ludtmann, M H R and Arber, C and Bartolome, F and De Vicente, M and Preza, E and Carro, E and Houlden, H and Gandhi, S and Wray, S and Abramov, A Y (2017) Mutations in valosin-containing protein (VCP) decrease ADP/ATP translocation across the mitochondrial membrane and impair energy metabolism in human neurons. JOURNAL OF BIOLOGICAL CHEMISTRY, 292 (21). pp. 8907-8917.

Kiely, A P and Ling, H and Asi, Y T and Kara, E and Proukakis, C and Schapira, A H and Morris, H R and Lubbe, S and Limousin, P and Lewis, P A and Lees, A J and Quinn, N and Hardy, J and Love, S and Revesz, T and Houlden, H and Holton, J L (2015) Distinct clinical and neuropathological features of G51D SNCA mutation cases compared with SNCA duplication and H50Q mutation. Molecular Neurodegeneration, 10. p. 41.

Other

Soutar, MPM and Melandri, D and Annuario, E and Monaghan, AE and Welsh, NJ and D’Sa, K and Guelfi, S and Zhang, D and Pittman, A and Trabzuni, D and Pan, KS and Kia, DA and Bictash, M and Gandhi, S and Houlden, H and Cookson, MR and Wood, NW and Singleton, AB and Hardy, J and Whiting, PJ and Blauwendraat, C and Whitworth, AJ and Manzoni, C and Ryten, M and Lewis, PA and Plun-Favreau, H (2020) Regulation of mitophagy by the NSL complex underlies genetic risk for Parkinson’s disease at Chr16q11.2 and on the MAPT H1 allele. Cold Spring Harbor Laboratory. (Submitted)

This list was generated on Fri Nov 26 07:37:55 2021 GMT.