PMC Articles for MedGen (Select 929215) - PMC

Select item 64988201.

A novel missense variant in SLC18A2 causes recessive brain monoamine vesicular transport disease and absent serotonin in platelets

Manisha Padmakumar, Jaak Jaeken, Vincent Ramaekers, Lieven Lagae, Daniel Greene, Chantal Thys, Chris Van Geet, NIHR BioResource, Kathleen Stirrups, Kate Downes, Ernest Turro, Kathleen Freson

JIMD Rep. 2019 May; 47(1): 9–16. Published online 2019 Mar 25. doi: 10.1002/jmd2.12030

PMCID:: PMC6498820

Abstract Article PDF–4.6M

Select item 62628122.

Modelling brain dopamine-serotonin vesicular transport disease in Caenorhabditis elegans

Alexander T. Young, Kien N. Ly, Callum Wilson, Klaus Lehnert, Russell G. Snell, Suzanne J. Reid, Jessie C. Jacobsen

Dis Model Mech. 2018 Nov 1; 11(11): dmm035709. Published online 2018 Nov 9. doi: 10.1242/dmm.035709

PMCID:: PMC6262812

Abstract Article

Select item 110216213.

Parkinsonism‐dystonia‐2: Case‐series study from Saudi Arabia

Mohammed A. Almuqbil, Sadia Tabassum, Osama Y. Muthaffar, Fouad Ghamdi, Zainab Al Masseri, Abdulaziz Alsaman, Reem A. Alkhater

Ann Clin Transl Neurol. 2024 Apr; 11(4): 1063–1066. Published online 2024 Feb 22. doi: 10.1002/acn3.52020

PMCID:: PMC11021621

Abstract Article PDF–281K

Select item 110748664.

Novel SLC18A2 Variant in Infantile Dystonia-Parkinsonism Type 2

Sakari Kaasalainen, Harri Arikka, Mika H. Martikainen, Valtteri Kaasinen

Case Rep Neurol Med. 2024; 2024: 4767647. Published online 2024 Apr 30. doi: 10.1155/2024/4767647

PMCID:: PMC11074866

Abstract Article PDF–247K

Select item 113994255.

Tricyclic and tetracyclic antidepressants upregulate VMAT2 activity and rescue disease-causing VMAT2 variants

Xunan Wang, Ilias Marmouzi, Peter S. B. Finnie, Meghan L. Bucher, Yuanye Yan, Erin Q. Williams, Svein I. Støve, Tatiana V. Lipina, Amy J. Ramsey, Gary W. Miller, Ali Salahpour

Neuropsychopharmacology. 2024 Oct; 49(11): 1783–1791. Published online 2024 Jul 26. doi: 10.1038/s41386-024-01914-2

PMCID:: PMC11399425

Abstract Article PDF–3.4M

Select item 103410836.

Dopamine Transporter Deficiency Syndrome (DTDS): Expanding the Clinical Phenotype and Precision Medicine Approaches

Joanne Ng, Serena Barral, Simon N. Waddington, Manju A. Kurian

Cells. 2023 Jul; 12(13): 1737. Published online 2023 Jun 28. doi: 10.3390/cells12131737

PMCID:: PMC10341083

Abstract Article PDF–3.0M

Select item 98046707.

The Genetic Landscape of Complex Childhood‐Onset Hyperkinetic Movement Disorders

Belén Pérez‐Dueñas, Kathleen Gorman, Anna Marcé‐Grau, Juan D. Ortigoza‐Escobar, Alfons Macaya, Federica R. Danti, Katy Barwick, Apostolos Papandreou, Joanne Ng, Esther Meyer, Shekeeb S. Mohammad, Martin Smith, Francesco Muntoni, Pinki Munot, Johanna Uusimaa, Päivi Vieira, Eammon Sheridan, Renzo Guerrini, Jan Cobben, Sanem Yilmaz, Elisa De Grandis, Russell C. Dale, Roser Pons, Kathryn J. Peall, Vincenzo Leuzzi, Manju A. Kurian

Mov Disord. 2022 Nov; 37(11): 2197–2209. Published online 2022 Aug 25. doi: 10.1002/mds.29182

PMCID:: PMC9804670

Abstract Article PDF–1.5M

Select item 90166268.

Characterisation of PLA2G6 as a locus for dystonia-parkinsonism

Coro Paisan-Ruiz, Kailash P Bhatia, Abi Li, Dena Hernandez, Mary Davis, Nick W Wood, John Hardy, Henry Houlden, Andrew Singleton, Susanne A Schneider

Ann Neurol. Author manuscript; available in PMC 2022 Apr 19.

Published in final edited form as: Ann Neurol. 2009 Jan; 65(1): 19–23. doi: 10.1002/ana.21415

PMCID:: PMC9016626

Abstract Article PDF–279K

Select item 26891149.

Homozygous loss-of-function mutations in the gene encoding the dopamine transporter are associated with infantile parkinsonism-dystonia

Manju A. Kurian, Juan Zhen, Shu-Yuan Cheng, Yan Li, Santosh R. Mordekar, Philip Jardine, Neil V. Morgan, Esther Meyer, Louise Tee, Shanaz Pasha, Evangeline Wassmer, Simon J.R. Heales, Paul Gissen, Maarten E.A. Reith, Eamonn R. Maher

J Clin Invest. 2009 Jun 1; 119(6): 1595–1603. Published online 2009 May 26. doi: 10.1172/JCI39060

PMCID:: PMC2689114

Abstract Article PDF–1.6M

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