Search results - ORA - Oxford University Research Archive

1 - 8 of 8

1

Conference item

Expression analysis in the peripheral nerve of the myotubularin-related 2 protein phosphatase, mutated in CMT4B1

Previtali, S, Zerega, B, Sherman, D, et al.
2003-09-01

2

Journal article

Charcot-Marie-Tooth type 4B is caused by mutations in the gene encoding myotubularin-related protein-2.

Bolino, A, Muglia, M, Conforti, F, et al.
2000-05-01

3

Journal article

Congenital myasthenic syndromes due to mutations in ALG2 and ALG14

Cossins, J, Belaya, K, Belaya, K, et al.
2013-03-01

4

Journal article

Congenital myasthenic syndromes due to mutations in ALG2 and ALG14

Cossins, J, Belaya, K, Hicks, D, et al.
2013-02-11

5

Journal article

Myotubularin-related 2 protein phosphatase and neurofilament light chain protein, both mutated in CMT neuropathies, interact in peripheral nerve.

Previtali, S, Zerega, B, Sherman, D, et al.
2003-07-01

6

Journal article

Congenital myasthenic syndrome due to homozygous CHRNE mutations: report of patients in Arabia.

Salih, M, Oystreck, D, Al-Faky, Y, et al.
2011-03-01

7

Journal article

Genetic refinement and physical mapping of the CMT4B gene on chromosome 11q22.

Bolino, A, Levy, E, Muglia, M, et al.
2000-01-01

8

Conference item

Investigating collagen VI biosynthesis and assembly in the context of ALG2 impairment in Ullrich/CMS-like family

Farsani, G, Hicks, D, Laval, S, et al.
2013-10-01

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