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Items: 4


Phenotypic convergence of Menkes and Wilson disease.

Bansagi B, Lewis-Smith D, Pal E, Duff J, Griffin H, Pyle A, Müller JS, Rudas G, Aranyi Z, Lochmüller H, Chinnery PF, Horvath R.

Neurol Genet. 2016 Nov 17;2(6):e119. eCollection 2016 Dec.


Novel HSPB1 mutation causes both motor neuronopathy and distal myopathy.

Lewis-Smith DJ, Duff J, Pyle A, Griffin H, Polvikoski T, Birchall D, Horvath R, Chinnery PF.

Neurol Genet. 2016 Oct 31;2(6):e110. eCollection 2016 Dec.


Homozygous deletion in MICU1 presenting with fatigue and lethargy in childhood.

Lewis-Smith D, Kamer KJ, Griffin H, Childs AM, Pysden K, Titov D, Duff J, Pyle A, Taylor RW, Yu-Wai-Man P, Ramesh V, Horvath R, Mootha VK, Chinnery PF.

Neurol Genet. 2016 Mar 3;2(2):e59. doi: 10.1212/NXG.0000000000000059. eCollection 2016 Apr.


SCP2 mutations and neurodegeneration with brain iron accumulation.

Horvath R, Lewis-Smith D, Douroudis K, Duff J, Keogh M, Pyle A, Fletcher N, Chinnery PF.

Neurology. 2015 Nov 24;85(21):1909-11. doi: 10.1212/WNL.0000000000002157. Epub 2015 Oct 23. No abstract available.

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