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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
1978 1
2001 1
2006 2
2007 3
2008 1
2009 4
2010 2
2011 5
2012 1
2013 2
2015 2
2016 2
2017 1
2018 4
2019 1
2020 2
2021 3
2022 2
2023 2
2024 2
2025 2

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42 results

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Page 1
Biallelic PTPMT1 variants disrupt cardiolipin metabolism and lead to a neurodevelopmental syndrome.
Falabella M, Pizzamiglio C, Tabara LC, Munro B, Abdel-Hamid MS, Sonmezler E, Macken WL, Lu S, Tilokani L, Flannery PJ, Patel N, Pope SAS, Heales SJR, Hammadi DBH, Alston CL, Taylor RW, Lochmuller H, Woodward CE, Labrum R, Vandrovcova J, Houlden H, Chronopoulou E, Pierre G, Maroofian R, Hanna MG, Taanman JW, Hiz S, Oktay Y, Zaki MS, Horvath R, Prudent J, Pitceathly RDS. Falabella M, et al. Among authors: labrum r. Brain. 2025 Feb 3;148(2):647-662. doi: 10.1093/brain/awae268. Brain. 2025. PMID: 39279645 Free PMC article.
Parkinson's families project: a UK-wide study of early onset and familial Parkinson's disease.
Towns C, Fang ZH, Tan MMX, Jasaityte S, Schmaderer TM, Stafford EJ, Pollard M, Tilney R, Hodgson M, Wu L, Labrum R, Hehir J, Polke J, Lange LM, Schapira AHV, Bhatia KP; Parkinson’s Families Project (PFP) Study Group; Global Parkinson’s Genetics Program (GP2); Singleton AB, Blauwendraat C, Klein C, Houlden H, Wood NW, Jarman PR, Morris HR, Real R. Towns C, et al. Among authors: labrum r. NPJ Parkinsons Dis. 2024 Oct 17;10(1):188. doi: 10.1038/s41531-024-00778-z. NPJ Parkinsons Dis. 2024. PMID: 39420034 Free PMC article.
Leukoencephalopathy caused by a 17p13.3 microdeletion.
Wade C, Williams T, Labrum R, Patel Y, Cali E, Davagnanam I, Adams ME, Barkhof F, Murphy E, Chataway J, Houlden H, Lynch DS. Wade C, et al. Among authors: labrum r. J Neurol Neurosurg Psychiatry. 2024 Feb 14;95(3):290-292. doi: 10.1136/jnnp-2023-331986. J Neurol Neurosurg Psychiatry. 2024. PMID: 37734926 Free article. No abstract available.
Enhanced mitochondrial genome analysis: bioinformatic and long-read sequencing advances and their diagnostic implications.
Macken WL, Falabella M, Pizzamiglio C, Woodward CE, Scotchman E, Chitty LS, Polke JM, Bugiardini E, Hanna MG, Vandrovcova J, Chandler N, Labrum R, Pitceathly RDS. Macken WL, et al. Among authors: labrum r. Expert Rev Mol Diagn. 2023 Jul-Dec;23(9):797-814. doi: 10.1080/14737159.2023.2241365. Epub 2023 Aug 29. Expert Rev Mol Diagn. 2023. PMID: 37642407 Free article. Review.
The clinical and genetic heterogeneity of paroxysmal dyskinesias.
Gardiner AR, Jaffer F, Dale RC, Labrum R, Erro R, Meyer E, Xiromerisiou G, Stamelou M, Walker M, Kullmann D, Warner T, Jarman P, Hanna M, Kurian MA, Bhatia KP, Houlden H. Gardiner AR, et al. Among authors: labrum r. Brain. 2015 Dec;138(Pt 12):3567-80. doi: 10.1093/brain/awv310. Epub 2015 Nov 23. Brain. 2015. PMID: 26598494 Free PMC article. Review.
Specialist multidisciplinary input maximises rare disease diagnoses from whole genome sequencing.
Macken WL, Falabella M, McKittrick C, Pizzamiglio C, Ellmers R, Eggleton K, Woodward CE, Patel Y, Labrum R; Genomics England Research Consortium; Phadke R, Reilly MM, DeVile C, Sarkozy A, Footitt E, Davison J, Rahman S, Houlden H, Bugiardini E, Quinlivan R, Hanna MG, Vandrovcova J, Pitceathly RDS. Macken WL, et al. Among authors: labrum r. Nat Commun. 2022 Nov 7;13(1):6324. doi: 10.1038/s41467-022-32908-7. Nat Commun. 2022. PMID: 36344503 Free PMC article.
Depression comorbidity in spinocerebellar ataxia.
Schmitz-Hübsch T, Coudert M, Tezenas du Montcel S, Giunti P, Labrum R, Dürr A, Ribai P, Charles P, Linnemann C, Schöls L, Rakowicz M, Rola R, Zdzienicka E, Fancellu R, Mariotti C, Baliko L, Melegh B, Filla A, Salvatore E, van de Warrenburg BP, Szymanski S, Infante J, Timmann D, Boesch S, Depondt C, Kang JS, Schulz JB, Klopstock T, Lossnitzer N, Löwe B, Frick C, Rottländer D, Schlaepfer TE, Klockgether T. Schmitz-Hübsch T, et al. Among authors: labrum r. Mov Disord. 2011 Apr;26(5):870-6. doi: 10.1002/mds.23698. Epub 2011 Mar 21. Mov Disord. 2011. PMID: 21437988
Genetic testing for mitochondrial disease: the United Kingdom best practice guidelines.
Mavraki E, Labrum R, Sergeant K, Alston CL, Woodward C, Smith C, Knowles CVY, Patel Y, Hodsdon P, Baines JP, Blakely EL, Polke J, Taylor RW, Fratter C. Mavraki E, et al. Among authors: labrum r. Eur J Hum Genet. 2023 Feb;31(2):148-163. doi: 10.1038/s41431-022-01249-w. Epub 2022 Dec 13. Eur J Hum Genet. 2023. PMID: 36513735 Free PMC article.
Mitochondrial DNA Analysis from Exome Sequencing Data Improves Diagnostic Yield in Neurological Diseases.
Poole OV, Pizzamiglio C, Murphy D, Falabella M, Macken WL, Bugiardini E, Woodward CE, Labrum R, Efthymiou S, Salpietro V, Chelban V, Kaiyrzhanov R, Maroofian R; SYNaPS Study Group; Amato AA, Gregory A, Hayflick SJ; Queen Square Genomics; Jonvik H, Wood N, Houlden H, Vandrovcova J, Hanna MG, Pittman A, Pitceathly RDS. Poole OV, et al. Among authors: labrum r. Ann Neurol. 2021 Jun;89(6):1240-1247. doi: 10.1002/ana.26063. Epub 2021 Apr 1. Ann Neurol. 2021. PMID: 33704825 Free PMC article.
42 results