PubMed (OMIM) for id: 60482

Year	Number of Results
1980	1
1984	1
1989	1
1992	1
2000	2
2001	1
2002	1
2004	1
2008	1
2012	1
2016	1
2024	0

1

Impaired Presynaptic High-Affinity Choline Transporter Causes a Congenital Myasthenic Syndrome with Episodic Apnea.

Bauché S, O'Regan S, Azuma Y, Laffargue F, McMacken G, Sternberg D, Brochier G, Buon C, Bouzidi N, Topf A, Lacène E, Remerand G, Beaufrere AM, Pebrel-Richard C, Thevenon J, El Chehadeh-Djebbar S, Faivre L, Duffourd Y, Ricci F, Mongini T, Fiorillo C, Astrea G, Burloiu CM, Butoianu N, Sandu C, Servais L, Bonne G, Nelson I, Desguerre I, Nougues MC, Bœuf B, Romero N, Laporte J, Boland A, Lechner D, Deleuze JF, Fontaine B, Strochlic L, Lochmuller H, Eymard B, Mayer M, Nicole S. Bauché S, et al. Am J Hum Genet. 2016 Sep 1;99(3):753-761. doi: 10.1016/j.ajhg.2016.06.033. Epub 2016 Aug 25. Am J Hum Genet. 2016. PMID: 27569547 Free PMC article.

2

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.

3

Refinement of the locus for distal hereditary motor neuronopathy VII (dHMN-VII) and exclusion of candidate genes.

Dick KJ, McEntagart M, Alwan W, Reilly M, Crosby AH. Dick KJ, et al. Genome. 2008 Nov;51(11):959-62. doi: 10.1139/G08-078. Genome. 2008. PMID: 18956029

4

Lethal impairment of cholinergic neurotransmission in hemicholinium-3-sensitive choline transporter knockout mice.

Ferguson SM, Bazalakova M, Savchenko V, Tapia JC, Wright J, Blakely RD. Ferguson SM, et al. Proc Natl Acad Sci U S A. 2004 Jun 8;101(23):8762-7. doi: 10.1073/pnas.0401667101. Epub 2004 Jun 1. Proc Natl Acad Sci U S A. 2004. PMID: 15173594 Free PMC article.

5

Single nucleotide polymorphism of the human high affinity choline transporter alters transport rate.

Okuda T, Okamura M, Kaitsuka C, Haga T, Gurwitz D. Okuda T, et al. J Biol Chem. 2002 Nov 22;277(47):45315-22. doi: 10.1074/jbc.M207742200. Epub 2002 Sep 16. J Biol Chem. 2002. PMID: 12237312 Free article.

6

Localization of the gene for distal hereditary motor neuronopathy VII (dHMN-VII) to chromosome 2q14.

McEntagart M, Norton N, Williams H, Teare MD, Dunstan M, Baker P, Houlden H, Reilly M, Wood N, Harper PS, Futreal PA, Williams N, Rahman N. McEntagart M, et al. Am J Hum Genet. 2001 May;68(5):1270-6. doi: 10.1086/320122. Epub 2001 Apr 4. Am J Hum Genet. 2001. PMID: 11294660 Free PMC article.

7

Functional characterization of the human high-affinity choline transporter.

Okuda T, Haga T. Okuda T, et al. FEBS Lett. 2000 Nov 3;484(2):92-7. doi: 10.1016/s0014-5793(00)02134-7. FEBS Lett. 2000. PMID: 11068039 Free article.

8

Molecular cloning of a human, hemicholinium-3-sensitive choline transporter.

Apparsundaram S, Ferguson SM, George AL Jr, Blakely RD. Apparsundaram S, et al. Biochem Biophys Res Commun. 2000 Oct 5;276(3):862-7. doi: 10.1006/bbrc.2000.3561. Biochem Biophys Res Commun. 2000. PMID: 11027560

9

Hereditary distal spinal muscular atrophy with vocal cord paralysis.

Young ID, Harper PS. Young ID, et al. J Neurol Neurosurg Psychiatry. 1980 May;43(5):413-8. doi: 10.1136/jnnp.43.5.413. J Neurol Neurosurg Psychiatry. 1980. PMID: 7420092 Free PMC article.

10

[Chronic spinal amyotrophy with paralysis of the vocal cords: Young-Harper syndrome].

Serratrice G, Pellissier JF, Gastaut JL, Desnuelle C. Serratrice G, et al. Rev Neurol (Paris). 1984;140(11):657-8. Rev Neurol (Paris). 1984. PMID: 6505493 French.

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