PubMed (cited) for id: 600293

Year	Number of Results
1976	1
1978	1
1994	2
1995	1
2001	2
2002	1
2006	1
2012	1
2014	2
2015	3
2016	1
2017	2
2018	1
2019	4
2020	1
2021	2
2024	0

1

A Novel Homozygous ADCY5 Variant is Associated with a Neurodevelopmental Disorder and Movement Abnormalities.

Kaiyrzhanov R, Zaki MS, Maroofian R, Dominik N, Rad A, Vona B, Houlden H. Kaiyrzhanov R, et al. Mov Disord Clin Pract. 2021 Jul 31;8(7):1140-1143. doi: 10.1002/mdc3.13310. eCollection 2021 Oct. Mov Disord Clin Pract. 2021. PMID: 34631954 Free PMC article. No abstract available.

2

Homozygous ADCY5 mutation causes early-onset movement disorder with severe intellectual disability.

Okamoto N, Miya F, Kitai Y, Tsunoda T, Kato M, Saitoh S, Kanemura Y, Kosaki K. Okamoto N, et al. Neurol Sci. 2021 Jul;42(7):2975-2978. doi: 10.1007/s10072-021-05152-y. Epub 2021 Mar 11. Neurol Sci. 2021. PMID: 33704598

3

Recurrent ADCY5 Mutation in Mosaic Form with Nocturnal Paroxysmal Dyskinesias and Video Electroencephalography Documentation of Dramatic Response to Caffeine Treatment.

Shetty K, Sarma AS, Devan M, Dalal A, Dash GK, Jannabhatla A, Patil SJ. Shetty K, et al. J Mov Disord. 2020 Aug;13(3):238-240. doi: 10.14802/jmd.20014. Epub 2020 Jul 28. J Mov Disord. 2020. PMID: 32713175 Free PMC article. No abstract available.

4

Whole genome sequencing for the genetic diagnosis of heterogenous dystonia phenotypes.

Kumar KR, Davis RL, Tchan MC, Wali GM, Mahant N, Ng K, Kotschet K, Siow SF, Gu J, Walls Z, Kang C, Wali G, Levy S, Phua CS, Yiannikas C, Darveniza P, Chang FCF, Morales-Briceño H, Rowe DB, Drew A, Gayevskiy V, Cowley MJ, Minoche AE, Tisch S, Hayes M, Kummerfeld S, Fung VSC, Sue CM. Kumar KR, et al. Parkinsonism Relat Disord. 2019 Dec;69:111-118. doi: 10.1016/j.parkreldis.2019.11.004. Epub 2019 Nov 7. Parkinsonism Relat Disord. 2019. PMID: 31731261 Free article.

5

Child Neurology: Spastic paraparesis and dystonia with a novel ADCY5 mutation.

Dean M, Messiaen L, Cooper GM, Amaral MD, Rashid S, Korf BR, Standaert DG. Dean M, et al. Neurology. 2019 Sep 10;93(11):510-514. doi: 10.1212/WNL.0000000000008089. Neurology. 2019. PMID: 31501304 Free PMC article. No abstract available.

6

Caffeine and the Dyskinesia Related to Mutations in the ADCY5 Gene.

Méneret A, Gras D, McGovern E, Roze E. Méneret A, et al. Ann Intern Med. 2019 Sep 17;171(6):439. doi: 10.7326/L19-0038. Epub 2019 Jun 11. Ann Intern Med. 2019. PMID: 31181574 No abstract available.

7

Autosomal recessive ADCY5-Related dystonia and myoclonus: Expanding the genetic spectrum of ADCY5-Related movement disorders.

Bohlega SA, Abou-Al-Shaar H, AlDakheel A, Alajlan H, Bohlega BS, Meyer BF, Monies D, Cupler EJ, Al-Saif AM. Bohlega SA, et al. Parkinsonism Relat Disord. 2019 Jul;64:145-149. doi: 10.1016/j.parkreldis.2019.02.039. Epub 2019 Feb 28. Parkinsonism Relat Disord. 2019. PMID: 30975617

8

Expanding the ADCY5 phenotype toward spastic paraparesis: A mutation in the M2 domain.

Waalkens AJE, Vansenne F, van der Hout AH, Zutt R, Mourmans J, Tolosa E, de Koning TJ, Tijssen MAJ. Waalkens AJE, et al. Neurol Genet. 2018 Jan 24;4(1):e214. doi: 10.1212/NXG.0000000000000214. eCollection 2018 Feb. Neurol Genet. 2018. PMID: 29473048 Free PMC article. No abstract available.

9

Autosomal recessive inheritance of ADCY5-related generalized dystonia and myoclonus.

Barrett MJ, Williams ES, Chambers C, Dhamija R. Barrett MJ, et al. Neurol Genet. 2017 Sep 25;3(5):193. doi: 10.1212/NXG.0000000000000193. eCollection 2017 Oct. Neurol Genet. 2017. PMID: 28971144 Free PMC article. No abstract available.

10

Alternating Hemiplegia of Childhood as a New Presentation of Adenylate Cyclase 5-Mutation-Associated Disease: A Report of Two Cases.

Westenberger A, Max C, Brüggemann N, Domingo A, Grütz K, Pawlack H, Weissbach A, Kühn AA, Spiegler J, Lang AE, Sperner J, Fung VSC, Schallner J, Gillessen-Kaesbach G, Münchau A, Klein C. Westenberger A, et al. J Pediatr. 2017 Feb;181:306-308.e1. doi: 10.1016/j.jpeds.2016.10.079. Epub 2016 Dec 6. J Pediatr. 2017. PMID: 27931826

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