PubMed for Bookshelf ID: 4399824

Year	Number of Results
2006	1
2008	1
2012	2
2013	1
2014	3
2015	2
2016	2
2017	2
2018	3
2019	1
2020	2
2022	3
2024	0

1

Clinical Profile and Treatment Outcomes of Hypermanganesemia with Dystonia 1 and 2 among 27 Indian Children.

Garg D, Yoganathan S, Shamim U, Mankad K, Gulati P, Bonifati V, Botre A, Kalane U, Saini AG, Sankhyan N, Srivastava K, Gowda VK, Juneja M, Kamate M, Padmanabha H, Panigrahi D, Pachapure S, Udani V, Kumar A, Pandey S, Thomas M, Danda S, Iqbalahmed SA, Subramanian A, Pemde H, Singh V, Faruq M, Sharma S. Garg D, et al. Mov Disord Clin Pract. 2022 Aug 12;9(7):886-899. doi: 10.1002/mdc3.13516. eCollection 2022 Oct. Mov Disord Clin Pract. 2022. PMID: 36247901 Free PMC article.

2

Hypermanganesemia with Dystonia Type 2: A Potentially Treatable Neurodegenerative Disorder: A Case Series in a Tertiary University Hospital.

Alhasan KA, Alshuaibi W, Hamad MH, Salim S, Jamjoom DZ, Alhashim AH, AlGhamdi MA, Kentab AY, Bashiri FA. Alhasan KA, et al. Children (Basel). 2022 Sep 1;9(9):1335. doi: 10.3390/children9091335. Children (Basel). 2022. PMID: 36138644 Free PMC article.

3

Effect of Chelation Therapy on a Korean Patient With Brain Manganese Deposition Resulting From a Compound Heterozygous Mutation in the SLC39A14 Gene.

Lee JH, Shin JH. Lee JH, et al. J Mov Disord. 2022 May;15(2):171-174. doi: 10.14802/jmd.21143. Epub 2022 Mar 22. J Mov Disord. 2022. PMID: 35306789 Free PMC article.

4

Benign SLC39A14 Course of Dystonia-Parkinsonism Secondary to Inherited Manganese Accumulation.

Namnah M, Bauer M, Mor-Shaked H, Bressman SB, Raymond D, Ozelius LJ, Arkadir D. Namnah M, et al. Mov Disord Clin Pract. 2020 May 7;7(5):569-570. doi: 10.1002/mdc3.12947. eCollection 2020 Jul. Mov Disord Clin Pract. 2020. PMID: 32626807 Free PMC article. No abstract available.

5

The Functions of ZIP8, ZIP14, and ZnT10 in the Regulation of Systemic Manganese Homeostasis.

Winslow JWW, Limesand KH, Zhao N. Winslow JWW, et al. Int J Mol Sci. 2020 May 7;21(9):3304. doi: 10.3390/ijms21093304. Int J Mol Sci. 2020. PMID: 32392784 Free PMC article. Review.

6

Autosomal-recessive iron deficiency anemia, dystonia and hypermanganesemia caused by new variant mutation of the manganese transporter gene SLC39A14.

Zeglam A, Abugrara A, Kabuka M. Zeglam A, et al. Acta Neurol Belg. 2019 Sep;119(3):379-384. doi: 10.1007/s13760-018-1024-7. Epub 2018 Sep 19. Acta Neurol Belg. 2019. PMID: 30232769

7

A novel mutation in SLC39A14 causing hypermanganesemia associated with infantile onset dystonia.

Juneja M, Shamim U, Joshi A, Mathur A, Uppili B, Sairam S, Ambawat S, Dixit R, Faruq M. Juneja M, et al. J Gene Med. 2018 Apr;20(4):e3012. doi: 10.1002/jgm.3012. Epub 2018 Mar 23. J Gene Med. 2018. PMID: 29498153

8

Hypermanganesemia due to mutations in SLC39A14: further insights into Mn deposition in the central nervous system.

Marti-Sanchez L, Ortigoza-Escobar JD, Darling A, Villaronga M, Baide H, Molero-Luis M, Batllori M, Vanegas MI, Muchart J, Aquino L, Artuch R, Macaya A, Kurian MA, Dueñas P. Marti-Sanchez L, et al. Orphanet J Rare Dis. 2018 Jan 30;13(1):28. doi: 10.1186/s13023-018-0758-x. Orphanet J Rare Dis. 2018. PMID: 29382362 Free PMC article.

9

Parental influence on human germline de novo mutations in 1,548 trios from Iceland.

Jónsson H, Sulem P, Kehr B, Kristmundsdottir S, Zink F, Hjartarson E, Hardarson MT, Hjorleifsson KE, Eggertsson HP, Gudjonsson SA, Ward LD, Arnadottir GA, Helgason EA, Helgason H, Gylfason A, Jonasdottir A, Jonasdottir A, Rafnar T, Frigge M, Stacey SN, Th Magnusson O, Thorsteinsdottir U, Masson G, Kong A, Halldorsson BV, Helgason A, Gudbjartsson DF, Stefansson K. Jónsson H, et al. Nature. 2017 Sep 28;549(7673):519-522. doi: 10.1038/nature24018. Epub 2017 Sep 20. Nature. 2017. PMID: 28959963

10

Clinical genomics expands the morbid genome of intellectual disability and offers a high diagnostic yield.

Anazi S, Maddirevula S, Faqeih E, Alsedairy H, Alzahrani F, Shamseldin HE, Patel N, Hashem M, Ibrahim N, Abdulwahab F, Ewida N, Alsaif HS, Al Sharif H, Alamoudi W, Kentab A, Bashiri FA, Alnaser M, AlWadei AH, Alfadhel M, Eyaid W, Hashem A, Al Asmari A, Saleh MM, AlSaman A, Alhasan KA, Alsughayir M, Al Shammari M, Mahmoud A, Al-Hassnan ZN, Al-Husain M, Osama Khalil R, Abd El Meguid N, Masri A, Ali R, Ben-Omran T, El Fishway P, Hashish A, Ercan Sencicek A, State M, Alazami AM, Salih MA, Altassan N, Arold ST, Abouelhoda M, Wakil SM, Monies D, Shaheen R, Alkuraya FS. Anazi S, et al. Mol Psychiatry. 2017 Apr;22(4):615-624. doi: 10.1038/mp.2016.113. Epub 2016 Jul 19. Mol Psychiatry. 2017. PMID: 27431290

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