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Items: 14

1.

Phosphorylation of Parkin at serine 65 is essential for its activation in vivo.

McWilliams TG, Barini E, Pohjolan-Pirhonen R, Brooks SP, Singh F, Burel S, Balk K, Kumar A, Montava-Garriga L, Prescott AR, Hassoun SM, Mouton-Liger F, Ball G, Hills R, Knebel A, Ulusoy A, Di Monte DA, Tamjar J, Antico O, Fears K, Smith L, Brambilla R, Palin E, Valori M, Eerola-Rautio J, Tienari P, Corti O, Dunnett SB, Ganley IG, Suomalainen A, Muqit MMK.

Open Biol. 2018 Nov 7;8(11). pii: 180108. doi: 10.1098/rsob.180108.

2.

Genome-wide Analyses Identify KIF5A as a Novel ALS Gene.

Nicolas A, Kenna KP, Renton AE, Ticozzi N, Faghri F, Chia R, Dominov JA, Kenna BJ, Nalls MA, Keagle P, Rivera AM, van Rheenen W, Murphy NA, van Vugt JJFA, Geiger JT, Van der Spek RA, Pliner HA, Shankaracharya, Smith BN, Marangi G, Topp SD, Abramzon Y, Gkazi AS, Eicher JD, Kenna A; ITALSGEN Consortium, Mora G, Calvo A, Mazzini L, Riva N, Mandrioli J, Caponnetto C, Battistini S, Volanti P, La Bella V, Conforti FL, Borghero G, Messina S, Simone IL, Trojsi F, Salvi F, Logullo FO, D'Alfonso S, Corrado L, Capasso M, Ferrucci L; Genomic Translation for ALS Care (GTAC) Consortium, Moreno CAM, Kamalakaran S, Goldstein DB; ALS Sequencing Consortium, Gitler AD, Harris T, Myers RM; NYGC ALS Consortium, Phatnani H, Musunuri RL, Evani US, Abhyankar A, Zody MC; Answer ALS Foundation, Kaye J, Finkbeiner S, Wyman SK, LeNail A, Lima L, Fraenkel E, Svendsen CN, Thompson LM, Van Eyk JE, Berry JD, Miller TM, Kolb SJ, Cudkowicz M, Baxi E; Clinical Research in ALS and Related Disorders for Therapeutic Development (CReATe) Consortium, Benatar M, Taylor JP, Rampersaud E, Wu G, Wuu J; SLAGEN Consortium, Lauria G, Verde F, Fogh I, Tiloca C, Comi GP, Sorarù G, Cereda C; French ALS Consortium, Corcia P, Laaksovirta H, Myllykangas L, Jansson L, Valori M, Ealing J, Hamdalla H, Rollinson S, Pickering-Brown S, Orrell RW, Sidle KC, Malaspina A, Hardy J, Singleton AB, Johnson JO, Arepalli S, Sapp PC, McKenna-Yasek D, Polak M, Asress S, Al-Sarraj S, King A, Troakes C, Vance C, de Belleroche J, Baas F, Ten Asbroek ALMA, Muñoz-Blanco JL, Hernandez DG, Ding J, Gibbs JR, Scholz SW, Floeter MK, Campbell RH, Landi F, Bowser R, Pulst SM, Ravits JM, MacGowan DJL, Kirby J, Pioro EP, Pamphlett R, Broach J, Gerhard G, Dunckley TL, Brady CB, Kowall NW, Troncoso JC, Le Ber I, Mouzat K, Lumbroso S, Heiman-Patterson TD, Kamel F, Van Den Bosch L, Baloh RH, Strom TM, Meitinger T, Shatunov A, Van Eijk KR, de Carvalho M, Kooyman M, Middelkoop B, Moisse M, McLaughlin RL, Van Es MA, Weber M, Boylan KB, Van Blitterswijk M, Rademakers R, Morrison KE, Basak AN, Mora JS, Drory VE, Shaw PJ, Turner MR, Talbot K, Hardiman O, Williams KL, Fifita JA, Nicholson GA, Blair IP, Rouleau GA, Esteban-Pérez J, García-Redondo A, Al-Chalabi A; Project MinE ALS Sequencing Consortium, Rogaeva E, Zinman L, Ostrow LW, Maragakis NJ, Rothstein JD, Simmons Z, Cooper-Knock J, Brice A, Goutman SA, Feldman EL, Gibson SB, Taroni F, Ratti A, Gellera C, Van Damme P, Robberecht W, Fratta P, Sabatelli M, Lunetta C, Ludolph AC, Andersen PM, Weishaupt JH, Camu W, Trojanowski JQ, Van Deerlin VM, Brown RH Jr, van den Berg LH, Veldink JH, Harms MB, Glass JD, Stone DJ, Tienari P, Silani V, Chiò A, Shaw CE, Traynor BJ, Landers JE.

Neuron. 2018 Mar 21;97(6):1268-1283.e6. doi: 10.1016/j.neuron.2018.02.027.

PMID:
29566793
3.

Alzheimer risk loci and associated neuropathology in a population-based study (Vantaa 85+).

Mäkelä M, Kaivola K, Valori M, Paetau A, Polvikoski T, Singleton AB, Traynor BJ, Stone DJ, Peuralinna T, Tienari PJ, Tanskanen M, Myllykangas L.

Neurol Genet. 2018 Jan 18;4(1):e211. doi: 10.1212/NXG.0000000000000211. eCollection 2018 Feb.

4.

Common origin of the gelsolin gene variant in 62 Finnish AGel amyloidosis families.

Mustonen T, Schmidt EK, Valori M, Tienari PJ, Atula S, Kiuru-Enari S.

Eur J Hum Genet. 2018 Jan;26(1):117-123. doi: 10.1038/s41431-017-0026-x. Epub 2017 Nov 22.

PMID:
29167514
5.

A novel class of somatic mutations in blood detected preferentially in CD8+ cells.

Valori M, Jansson L, Kiviharju A, Ellonen P, Rajala H, Awad SA, Mustjoki S, Tienari PJ.

Clin Immunol. 2017 Feb;175:75-81. doi: 10.1016/j.clim.2016.11.018. Epub 2016 Dec 5.

6.

Primary familial brain calcification linked to deletion of 5' noncoding region of SLC20A2.

Pasanen P, Mäkinen J, Myllykangas L, Guerreiro R, Bras J, Valori M, Viitanen M, Baumann M, Tienari PJ, Pöyhönen M, Baumann P.

Acta Neurol Scand. 2017 Jul;136(1):59-63. doi: 10.1111/ane.12697. Epub 2016 Oct 10.

PMID:
27726124
7.

[The pathogenesis of amyotrophic lateral sclerosis and frontal lobe dementia is unraveling: pathology of the nucleus and glutamate sensitivity].

Tienari P, Kiviharju A, Valori M, Lindholm D, Laaksovirta H.

Duodecim. 2016;132(5):423-31. Review. Finnish.

PMID:
27089615
8.

Exome and regulatory element sequencing of neuromyelitis optica patients.

Siuko M, Valori M, Kivelä T, Setälä K, Morin A, Kwan T, Pastinen T, Tienari P.

J Neuroimmunol. 2015 Dec 15;289:139-42. doi: 10.1016/j.jneuroim.2015.11.002. Epub 2015 Nov 3.

PMID:
26616883
9.

Genome-wide association study of neocortical Lewy-related pathology.

Peuralinna T, Myllykangas L, Oinas M, Nalls MA, Keage HA, Isoviita VM, Valori M, Polvikoski T, Paetau A, Sulkava R, Ince PG, Zaccai J, Brayne C, Traynor BJ, Hardy J, Singleton AB, Tienari PJ.

Ann Clin Transl Neurol. 2015 Sep;2(9):920-31. doi: 10.1002/acn3.231. Epub 2015 Aug 18.

10.

Anima: modular workflow system for comprehensive image data analysis.

Rantanen V, Valori M, Hautaniemi S.

Front Bioeng Biotechnol. 2014 Jul 30;2:25. doi: 10.3389/fbioe.2014.00025. eCollection 2014.

11.

C9ORF72 expansion does not affect the phenotype in Nasu-Hakola disease with the DAP12 mutation.

Solje E, Hartikainen P, Valori M, Vanninen R, Tiihonen J, Hakola P, Tienari PJ, Remes AM.

Neurobiol Aging. 2014 Jul;35(7):1780.e13-7. doi: 10.1016/j.neurobiolaging.2014.01.149. Epub 2014 Feb 5.

PMID:
24612676
12.

Use of IgE and IgG4 epitope binding to predict the outcome of oral immunotherapy in cow's milk allergy.

Savilahti EM, Kuitunen M, Valori M, Rantanen V, Bardina L, Gimenez G, Mäkelä MJ, Hautaniemi S, Savilahti E, Sampson HA.

Pediatr Allergy Immunol. 2014 May;25(3):227-35. doi: 10.1111/pai.12186. Epub 2014 Jan 6.

13.

Mortality, morbidity and long-term results in surgically treated hyperthyroid patients. Review of 597 cases.

Palestini N, Valori MR, Carlin R, Iannucci P.

Acta Chir Scand. 1985;151(6):509-13.

PMID:
3841444
14.

[Surgical treatment of Basedow's disease. Short- and long-term results in a caseload of 102 interventions].

Palestini N, Carena F, Carlin R, Valori MR.

Ann Ital Chir. 1983;55(1):1-9. Italian. No abstract available.

PMID:
6689113

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