Publications by authors named "Klaudia Strucinska"

3Publications

A biallelic pathogenic variant in the OGDH gene results in a neurological disorder with features of a mitochondrial disease.

Authors:
Zheng Yie Yap Klaudia Strucinska Satoshi Matsuzaki Sukyeong Lee Yue Si Kenneth Humphries Mark A Tarnopolsky Wan Hee Yoon

J Inherit Metab Dis 2020 May 7. Epub 2020 May 7.

Aging and Metabolism Research Program, Oklahoma Medical Research Foundation, Oklahoma City, Oklahoma, USA.

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May 2020

Recurrent De Novo NAHR Reciprocal Duplications in the ATAD3 Gene Cluster Cause a Neurogenetic Trait with Perturbed Cholesterol and Mitochondrial Metabolism.

Authors:
Adam C Gunning Klaudia Strucinska Mikel Muñoz Oreja Andrew Parrish Richard Caswell Karen L Stals Romina Durigon Karina Durlacher-Betzer Mitchell H Cunningham Christopher M Grochowski Julia Baptista Carolyn Tysoe Emma Baple Nayana Lahiri Tessa Homfray Ingrid Scurr Catherine Armstrong John Dean Uxoa Fernandez Pelayo Aleck W E Jones Robert W Taylor Vinod K Misra Wan Hee Yoon Caroline F Wright James R Lupski Antonella Spinazzola Tamar Harel Ian J Holt Sian Ellard

Am J Hum Genet 2020 02 30;106(2):272-279. Epub 2020 Jan 30.

Exeter Genomics Laboratory, Royal Devon and Exeter NHS Foundation Trust, Exeter EX2 5DW, UK; Institute of Biomedical and Clinical Science, College of Medicine and Health, University of Exeter, Exeter EX2 5DW, UK. Electronic address:

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February 2020

STIM Protein-NMDA2 Receptor Interaction Decreases NMDA-Dependent Calcium Levels in Cortical Neurons.

Authors:
Joanna Gruszczynska-Biegala Klaudia Strucinska Filip Maciag Lukasz Majewski Maria Sladowska Jacek Kuznicki

Cells 2020 01 9;9(1). Epub 2020 Jan 9.

Laboratory of Neurodegeneration, International Institute of Molecular and Cell Biology in Warsaw, 02-109 Warsaw, Poland.

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January 2020