Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

Search Page

Filters

My NCBI Filters

Text availability

Article attribute

Article type

Publication date

Search Results

56 results

Filters applied: . Clear all
Results are displayed in a computed author sort order. The Results By Year timeline is not available.
Page 1
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. Wang H, et al. Among authors: chioza ba. Brain. 2017 Nov 1;140(11):2838-2850. doi: 10.1093/brain/awx249. Brain. 2017. PMID: 29088354 Free PMC article.
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. Ahmed MY, et al. Among authors: chioza ba. Brain. 2017 Mar 1;140(3):547-554. doi: 10.1093/brain/aww318. Brain. 2017. PMID: 28052917 Free PMC article.
Defective presynaptic choline transport underlies hereditary motor neuropathy.
Barwick KE, Wright J, Al-Turki S, McEntagart MM, Nair A, Chioza B, Al-Memar A, Modarres H, Reilly MM, Dick KJ, Ruggiero AM, Blakely RD, Hurles ME, Crosby AH. Barwick KE, et al. Am J Hum Genet. 2012 Dec 7;91(6):1103-7. doi: 10.1016/j.ajhg.2012.09.019. Epub 2012 Nov 8. Am J Hum Genet. 2012. PMID: 23141292 Free PMC article.
Mutations in B4GALNT1 (GM2 synthase) underlie a new disorder of ganglioside biosynthesis.
Harlalka GV, Lehman A, Chioza B, Baple EL, Maroofian R, Cross H, Sreekantan-Nair A, Priestman DA, Al-Turki S, McEntagart ME, Proukakis C, Royle L, Kozak RP, Bastaki L, Patton M, Wagner K, Coblentz R, Price J, Mezei M, Schlade-Bartusiak K, Platt FM, Hurles ME, Crosby AH. Harlalka GV, et al. Brain. 2013 Dec;136(Pt 12):3618-24. doi: 10.1093/brain/awt270. Epub 2013 Oct 7. Brain. 2013. PMID: 24103911 Free PMC article.
Loss of PCLO function underlies pontocerebellar hypoplasia type III.
Ahmed MY, Chioza BA, Rajab A, Schmitz-Abe K, Al-Khayat A, Al-Turki S, Baple EL, Patton MA, Al-Memar AY, Hurles ME, Partlow JN, Hill RS, Evrony GD, Servattalab S, Markianos K, Walsh CA, Crosby AH, Mochida GH. Ahmed MY, et al. Among authors: chioza ba. Neurology. 2015 Apr 28;84(17):1745-50. doi: 10.1212/WNL.0000000000001523. Epub 2015 Apr 1. Neurology. 2015. PMID: 25832664 Free PMC article.
A partially inactivating mutation in the sodium-dependent lysophosphatidylcholine transporter MFSD2A causes a non-lethal microcephaly syndrome.
Alakbarzade V, Hameed A, Quek DQ, Chioza BA, Baple EL, Cazenave-Gassiot A, Nguyen LN, Wenk MR, Ahmad AQ, Sreekantan-Nair A, Weedon MN, Rich P, Patton MA, Warner TT, Silver DL, Crosby AH. Alakbarzade V, et al. Among authors: chioza ba. Nat Genet. 2015 Jul;47(7):814-7. doi: 10.1038/ng.3313. Epub 2015 May 25. Nat Genet. 2015. PMID: 26005865
MNS1 variant associated with situs inversus and male infertility.
Leslie JS, Rawlins LE, Chioza BA, Olubodun OR, Salter CG, Fasham J, Jones HF, Cross HE, Lam S, Harlalka GV, Muggenthaler MMA, Crosby AH, Baple EL. Leslie JS, et al. Among authors: chioza ba. Eur J Hum Genet. 2020 Jan;28(1):50-55. doi: 10.1038/s41431-019-0489-z. Epub 2019 Sep 18. Eur J Hum Genet. 2020. PMID: 31534215 Free PMC article.
Recessive nephrocerebellar syndrome on the Galloway-Mowat syndrome spectrum is caused by homozygous protein-truncating mutations of WDR73.
Jinks RN, Puffenberger EG, Baple E, Harding B, Crino P, Fogo AB, Wenger O, Xin B, Koehler AE, McGlincy MH, Provencher MM, Smith JD, Tran L, Al Turki S, Chioza BA, Cross H, Harlalka GV, Hurles ME, Maroofian R, Heaps AD, Morton MC, Stempak L, Hildebrandt F, Sadowski CE, Zaritsky J, Campellone K, Morton DH, Wang H, Crosby A, Strauss KA. Jinks RN, et al. Among authors: chioza ba. Brain. 2015 Aug;138(Pt 8):2173-90. doi: 10.1093/brain/awv153. Epub 2015 Jun 11. Brain. 2015. PMID: 26070982 Free PMC article.
56 results