Similar articles for PMID: 30975617

Year	Number of Results
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1

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

2

Phenotypic insights into ADCY5-associated disease.

Chang FC, Westenberger A, Dale RC, Smith M, Pall HS, Perez-Dueñas B, Grattan-Smith P, Ouvrier RA, Mahant N, Hanna BC, Hunter M, Lawson JA, Max C, Sachdev R, Meyer E, Crimmins D, Pryor D, Morris JG, Münchau A, Grozeva D, Carss KJ, Raymond L, Kurian MA, Klein C, Fung VS. Chang FC, et al. Mov Disord. 2016 Jul;31(7):1033-40. doi: 10.1002/mds.26598. Epub 2016 Apr 8. Mov Disord. 2016. PMID: 27061943 Free PMC article.

3

ADCY5-related dyskinesia presenting as familial myoclonus-dystonia.

Douglas AG, Andreoletti G, Talbot K, Hammans SR, Singh J, Whitney A, Ennis S, Foulds NC. Douglas AG, et al. Neurogenetics. 2017 Apr;18(2):111-117. doi: 10.1007/s10048-017-0510-z. Epub 2017 Feb 22. Neurogenetics. 2017. PMID: 28229249 Free PMC article.

4

ADCY5-related dyskinesia: Broader spectrum and genotype-phenotype correlations.

Chen DH, Méneret A, Friedman JR, Korvatska O, Gad A, Bonkowski ES, Stessman HA, Doummar D, Mignot C, Anheim M, Bernes S, Davis MY, Damon-Perrière N, Degos B, Grabli D, Gras D, Hisama FM, Mackenzie KM, Swanson PD, Tranchant C, Vidailhet M, Winesett S, Trouillard O, Amendola LM, Dorschner MO, Weiss M, Eichler EE, Torkamani A, Roze E, Bird TD, Raskind WH. Chen DH, et al. Neurology. 2015 Dec 8;85(23):2026-35. doi: 10.1212/WNL.0000000000002058. Epub 2015 Nov 4. Neurology. 2015. PMID: 26537056 Free PMC article.

5

Carecchio M, Mencacci NE, Iodice A, Pons R, Panteghini C, Zorzi G, Zibordi F, Bonakis A, Dinopoulos A, Jankovic J, Stefanis L, Bhatia KP, Monti V, R'Bibo L, Veneziano L, Garavaglia B, Fusco C, Wood N, Stamelou M, Nardocci N. Carecchio M, et al. Parkinsonism Relat Disord. 2017 Aug;41:37-43. doi: 10.1016/j.parkreldis.2017.05.004. Epub 2017 May 10. Parkinsonism Relat Disord. 2017. PMID: 28511835 Free PMC article.

6

A de novo ADCY5 mutation causes early-onset autosomal dominant chorea and dystonia.

Carapito R, Paul N, Untrau M, Le Gentil M, Ott L, Alsaleh G, Jochem P, Radosavljevic M, Le Caignec C, David A, Damier P, Isidor B, Bahram S. Carapito R, et al. Mov Disord. 2015 Mar;30(3):423-7. doi: 10.1002/mds.26115. Epub 2014 Dec 27. Mov Disord. 2015. PMID: 25545163

7

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

8

[ADCY5-associated dyskinesia in young children: a case report of a family and an updated review].

Aguilera-Nieto L, Ferrero-Turrión J, Mora-Ramírez MD, Calvo-Medina R, Ruiz-García C, Ramos-Fernández JM. Aguilera-Nieto L, et al. Rev Neurol. 2020 Jul 16;71(2):69-73. doi: 10.33588/rn.7102.2020154. Rev Neurol. 2020. PMID: 32627162 Free article. Review. Spanish.

9

An Update on the Phenotype, Genotype and Neurobiology of ADCY5-Related Disease.

Ferrini A, Steel D, Barwick K, Kurian MA. Ferrini A, et al. Mov Disord. 2021 May;36(5):1104-1114. doi: 10.1002/mds.28495. Epub 2021 May 2. Mov Disord. 2021. PMID: 33934385 Review.

10

Clinical exome sequencing in early-onset generalized dystonia and large-scale resequencing follow-up.

Zech M, Boesch S, Jochim A, Weber S, Meindl T, Schormair B, Wieland T, Lunetta C, Sansone V, Messner M, Mueller J, Ceballos-Baumann A, Strom TM, Colombo R, Poewe W, Haslinger B, Winkelmann J. Zech M, et al. Mov Disord. 2017 Apr;32(4):549-559. doi: 10.1002/mds.26808. Epub 2016 Sep 26. Mov Disord. 2017. PMID: 27666935

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