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Items: 5

1.

Truncating SLC5A7 mutations underlie a spectrum of dominant hereditary motor neuropathies.

Salter CG, Beijer D, Hardy H, Barwick KES, Bower M, Mademan I, De Jonghe P, Deconinck T, Russell MA, McEntagart MM, Chioza BA, Blakely RD, Chilton JK, De Bleecker J, Baets J, Baple EL, Walk D, Crosby AH.

Neurol Genet. 2018 Mar 23;4(2):e222. doi: 10.1212/NXG.0000000000000222. eCollection 2018 Apr.

2.

Choline transporter mutations in severe congenital myasthenic syndrome disrupt transporter localization.

Wang H, Salter CG, Refai O, Hardy H, Barwick KES, Akpulat U, Kvarnung M, Chioza BA, Harlalka G, Taylan F, Sejersen T, Wright J, Zimmerman HH, Karakaya M, Stüve B, Weis J, Schara U, Russell MA, Abdul-Rahman OA, Chilton J, Blakely RD, Baple EL, Cirak S, Crosby AH.

Brain. 2017 Nov 1;140(11):2838-2850. doi: 10.1093/brain/awx249.

PMID:
29088354
3.

A mutation of EPT1 (SELENOI) underlies a new disorder of Kennedy pathway phospholipid biosynthesis.

Ahmed MY, Al-Khayat A, Al-Murshedi F, Al-Futaisi A, Chioza BA, Pedro Fernandez-Murray J, Self JE, Salter CG, Harlalka GV, Rawlins LE, Al-Zuhaibi S, Al-Azri F, Al-Rashdi F, Cazenave-Gassiot A, Wenk MR, Al-Salmi F, Patton MA, Silver DL, Baple EL, McMaster CR, Crosby AH.

Brain. 2017 Mar 1;140(3):547-554. doi: 10.1093/brain/aww318.

4.

Further defining the phenotypic spectrum of B4GALT7 mutations.

Salter CG, Davies JH, Moon RJ, Fairhurst J, Bunyan D; DDD Study, Foulds N.

Am J Med Genet A. 2016 Jun;170(6):1556-63. doi: 10.1002/ajmg.a.37604. Epub 2016 Mar 4.

PMID:
26940150
5.

Expanding the ocular phenotype of 14q terminal deletions: A novel presentation of microphthalmia and coloboma in ring 14 syndrome with associated 14q32.31 deletion and review of the literature.

Salter CG, Baralle D, Collinson MN, Self JE.

Am J Med Genet A. 2016 Apr;170A(4):1017-22. doi: 10.1002/ajmg.a.37436. Epub 2016 Jan 15. Review.

PMID:
26773965

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