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Mitochondrial DNA Analysis from Exome Sequencing Data Improves Diagnostic Yield in Neurological Diseases.
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.
Truncating mutations in SPAST patients are associated with a high rate of psychiatric comorbidities in hereditary spastic paraplegia.
Chelban V, Tucci A, Lynch DS, Polke JM, Santos L, Jonvik H, Groppa S, Wood NW, Houlden H.
Chelban V, et al. Among authors: jonvik h.
J Neurol Neurosurg Psychiatry. 2017 Aug;88(8):681-687. doi: 10.1136/jnnp-2017-315796. Epub 2017 Jun 1.
J Neurol Neurosurg Psychiatry. 2017.
PMID: 28572275
Free PMC article.
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Leucine rich repeat kinase 2 (LRRK2) GLY2019SER mutation is absent in a second cohort of Nigerian Africans with Parkinson disease.
Okubadejo NU, Rizig M, Ojo OO, Jonvik H, Oshinaike O, Brown E, Houlden H.
Okubadejo NU, et al. Among authors: jonvik h.
PLoS One. 2018 Dec 3;13(12):e0207984. doi: 10.1371/journal.pone.0207984. eCollection 2018.
PLoS One. 2018.
PMID: 30507963
Free PMC article.
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Neuromuscular disease genetics in under-represented populations: increasing data diversity.
Wilson LA, Macken WL, Perry LD, Record CJ, Schon KR, Frezatti RSS, Raga S, Naidu K, Köken ÖY, Polat I, Kapapa MM, Dominik N, Efthymiou S, Morsy H, Nel M, Fassad MR, Gao F, Patel K, Schoonen M, Bisschoff M, Vorster A, Jonvik H, Human R, Lubbe E, Nonyane M, Vengalil S, Nashi S, Srivastava K, Lemmers RJLF, Reyaz A, Mishra R, Töpf A, Trainor CI, Steyn EC, Mahungu AC, van der Vliet PJ, Ceylan AC, Hiz AS, Çavdarlı B, Semerci Gündüz CN, Ceylan GG, Nagappa M, Tallapaka KB, Govindaraj P, van der Maarel SM, Narayanappa G, Nandeesh BN, Wa Somwe S, Bearden DR, Kvalsund MP, Ramdharry GM, Oktay Y, Yiş U, Topaloğlu H, Sarkozy A, Bugiardini E, Henning F, Wilmshurst JM, Heckmann JM, McFarland R, Taylor RW, Smuts I, van der Westhuizen FH, Sobreira CFDR, Tomaselli PJ, Marques W Jr, Bhatia R, Dalal A, Srivastava MVP, Yareeda S, Nalini A, Vishnu VY, Thangaraj K, Straub V, Horvath R, Chinnery PF, Pitceathly RDS, Muntoni F, Houlden H, Vandrovcova J, Reilly MM, Hanna MG.
Wilson LA, et al. Among authors: jonvik h.
Brain. 2023 Dec 1;146(12):5098-5109. doi: 10.1093/brain/awad254.
Brain. 2023.
PMID: 37516995
Free PMC article.
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Analysis of DNM3 and VAMP4 as genetic modifiers of LRRK2 Parkinson's disease.
Brown EE, Blauwendraat C, Trinh J, Rizig M, Nalls MA, Leveille E, Ruskey JA, Jonvik H, Tan MMX, Bandres-Ciga S, Hassin-Baer S, Brockmann K, Infante J, Tolosa E, Ezquerra M, Ben Romdhan S, Benmahdjoub M, Arezki M, Mhiri C, Hardy J, Singleton AB, Alcalay RN, Gasser T, Grosset DG, Williams NM, Pittman A, Gan-Or Z, Fernandez-Santiago R, Brice A, Lesage S, Farrer M, Wood N, Morris HR; International Parkinson Disease Genomics Consortium (IPDGC).
Brown EE, et al. Among authors: jonvik h.
Neurobiol Aging. 2021 Jan;97:148.e17-148.e24. doi: 10.1016/j.neurobiolaging.2020.07.002. Epub 2020 Jul 13.
Neurobiol Aging. 2021.
PMID: 32873436
Free PMC article.
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Vocation and avocation: leisure activities correlate with professional engagement, but not burnout, in a cross-sectional survey of UK doctors.
McManus IC, Jonvik H, Richards P, Paice E.
McManus IC, et al. Among authors: jonvik h.
BMC Med. 2011 Aug 30;9:100. doi: 10.1186/1741-7015-9-100.
BMC Med. 2011.
PMID: 21878123
Free PMC article.
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COVID-19-Related Outcomes in Primary Mitochondrial Diseases: An International Study.
Pizzamiglio C, Machado PM, Thomas RH, Gorman GS, McFarland R, Hanna MG, Pitceathly RDS; MitoCOVID-19 Study Group.
Pizzamiglio C, et al.
Neurology. 2022 Apr 5;98(14):576-582. doi: 10.1212/WNL.0000000000200240. Epub 2022 Feb 21.
Neurology. 2022.
PMID: 35190464
Free PMC article.
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