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Showing results for dino sharing
Search for Dino Häring instead (1 results)
Recommendations to distinguish behavioural variant frontotemporal dementia from psychiatric disorders.
Ducharme S, Dols A, Laforce R, Devenney E, Kumfor F, van den Stock J, Dallaire-Théroux C, Seelaar H, Gossink F, Vijverberg E, Huey E, Vandenbulcke M, Masellis M, Trieu C, Onyike C, Caramelli P, de Souza LC, Santillo A, Waldö ML, Landin-Romero R, Piguet O, Kelso W, Eratne D, Velakoulis D, Ikeda M, Perry D, Pressman P, Boeve B, Vandenberghe R, Mendez M, Azuar C, Levy R, Le Ber I, Baez S, Lerner A, Ellajosyula R, Pasquier F, Galimberti D, Scarpini E, van Swieten J, Hornberger M, Rosen H, Hodges J, Diehl-Schmid J, Pijnenburg Y. Ducharme S, et al. Brain. 2020 Jun 1;143(6):1632-1650. doi: 10.1093/brain/awaa018. Brain. 2020. PMID: 32129844 Free PMC article. Review.
The Neuropsychiatric International Consortium for Frontotemporal Dementia was recently established to determine the current best clinical practice and set up an international collaboration to share a common dataset for future research. The goal of the present paper was to …
The Neuropsychiatric International Consortium for Frontotemporal Dementia was recently established to determine the current best clinical pr …
Common and rare variant association analyses in amyotrophic lateral sclerosis identify 15 risk loci with distinct genetic architectures and neuron-specific biology.
van Rheenen W, van der Spek RAA, Bakker MK, van Vugt JJFA, Hop PJ, Zwamborn RAJ, de Klein N, Westra HJ, Bakker OB, Deelen P, Shireby G, Hannon E, Moisse M, Baird D, Restuadi R, Dolzhenko E, Dekker AM, Gawor K, Westeneng HJ, Tazelaar GHP, van Eijk KR, Kooyman M, Byrne RP, Doherty M, Heverin M, Al Khleifat A, Iacoangeli A, Shatunov A, Ticozzi N, Cooper-Knock J, Smith BN, Gromicho M, Chandran S, Pal S, Morrison KE, Shaw PJ, Hardy J, Orrell RW, Sendtner M, Meyer T, Başak N, van der Kooi AJ, Ratti A, Fogh I, Gellera C, Lauria G, Corti S, Cereda C, Sproviero D, D'Alfonso S, Sorarù G, Siciliano G, Filosto M, Padovani A, Chiò A, Calvo A, Moglia C, Brunetti M, Canosa A, Grassano M, Beghi E, Pupillo E, Logroscino G, Nefussy B, Osmanovic A, Nordin A, Lerner Y, Zabari M, Gotkine M, Baloh RH, Bell S, Vourc'h P, Corcia P, Couratier P, Millecamps S, Meininger V, Salachas F, Mora Pardina JS, Assialioui A, Rojas-García R, Dion PA, Ross JP, Ludolph AC, Weishaupt JH, Brenner D, Freischmidt A, Bensimon G, Brice A, Durr A, Payan CAM, Saker-Delye S, Wood NW, Topp S, Rademakers R, Tittmann L, Lieb W, Franke A, Ripke S, Braun A, Kraft J, Whiteman DC, Olsen CM, Uitterlinden AG, Hofman A, Rietschel M, Cich… See abstract for full author list ➔ van Rheenen W, et al. Nat Genet. 2021 Dec;53(12):1636-1648. doi: 10.1038/s41588-021-00973-1. Epub 2021 Dec 6. Nat Genet. 2021. PMID: 34873335 Free PMC article.
When combined with 8,953 individuals with whole-genome sequencing (6,538 patients, 2,415 controls) and a large cortex-derived expression quantitative trait locus (eQTL) dataset (MetaBrain), analyses revealed locus-specific genetic architectures in which we prioritized genes eithe …
When combined with 8,953 individuals with whole-genome sequencing (6,538 patients, 2,415 controls) and a large cortex-derived expression qua …
Venetoclax and idasanutlin in relapsed/refractory AML: a nonrandomized, open-label phase 1b trial.
Daver NG, Dail M, Garcia JS, Jonas BA, Yee KWL, Kelly KR, Vey N, Assouline S, Roboz GJ, Paolini S, Pollyea DA, Tafuri A, Brandwein JM, Pigneux A, Powell BL, Fenaux P, Olin RL, Visani G, Martinelli G, Onishi M, Wang J, Huang W, Green C, Ott MG, Hong WJ, Konopleva MY, Andreeff M. Daver NG, et al. Blood. 2023 Mar 16;141(11):1265-1276. doi: 10.1182/blood.2022016362. Blood. 2023. PMID: 36265087 Free PMC article. Clinical Trial.
Harmonizing Genetic Testing for Parkinson's Disease: Results of the PARKNET Multicentric Study.
Di Fonzo A, Percetti M, Monfrini E, Palmieri I, Albanese A, Avenali M, Bartoletti-Stella A, Blandini F, Brescia G, Calandra-Buonaura G, Campopiano R, Capellari S, Colangelo I, Comi GP, Cuconato G, Ferese R, Galandra C, Gambardella S, Garavaglia B, Gaudio A, Giardina E, Invernizzi F, Mandich P, Mineri R, Panteghini C, Reale C, Trevisan L, Zampatti S, Cortelli P, Valente EM; PARKNET study group. Di Fonzo A, et al. Mov Disord. 2023 Dec;38(12):2241-2248. doi: 10.1002/mds.29617. Epub 2023 Sep 26. Mov Disord. 2023. PMID: 37750340
METHODS: We retrospectively collected data from 648 patients with PD with age at onset younger than 55 years who underwent NGS of a minimal shared panel of 15 PD-related genes, as well as PD-multiplex ligation-dependent probe amplification in eight Italian diagnostic labor …
METHODS: We retrospectively collected data from 648 patients with PD with age at onset younger than 55 years who underwent NGS of a minimal …
Use and positioning of fostamatinib in the management of primary chronic immune thrombocytopenia: an Italian expert opinion.
Lucchesi A, Fattizzo B, De Stefano V, Ruggeri M, Siragusa S, Vianelli N, Zaja F, Rodeghiero F. Lucchesi A, et al. Ther Adv Hematol. 2023 Feb 28;14:20406207221147777. doi: 10.1177/20406207221147777. eCollection 2023. Ther Adv Hematol. 2023. PMID: 37426835 Free PMC article. Review.
The conclusions from a consensus meeting between Italian experts, whose task was to outline the profile of the ideal candidate to receive fostamatinib, are reported here. A modified Delphi methodology was used to achieve shared statements, which were reported in a narrativ …
The conclusions from a consensus meeting between Italian experts, whose task was to outline the profile of the ideal candidate to receive fo …
Digital health and Clinical Patient Management System (CPMS) platform utility for data sharing of neuromuscular patients: the Italian EURO-NMD experience.
Fortunato F, Bianchi F, Ricci G, Torri F, Gualandi F, Neri M, Farnè M, Giannini F, Malandrini A, Volpi N, Lopergolo D, Silani V, Ticozzi N, Verde F, Pareyson D, Fenu S, Bonanno S, Nigro V, Peduto C, D'Ambrosio P, Zeuli R, Zanobio M, Picillo E, Servidei S, Primiano G, Sancricca C, Sciacco M, Brusa R, Filosto M, Cotti Piccinelli S, Pegoraro E, Mongini T, Solero L, Gadaleta G, Brusa C, Minetti C, Bruno C, Panicucci C, Sansone VA, Lunetta C, Zanolini A, Toscano A, Pugliese A, Nicocia G, Bertini E, Catteruccia M, Diodato D, Atalaia A, Evangelista T, Siciliano G, Ferlini A. Fortunato F, et al. Orphanet J Rare Dis. 2023 Jul 21;18(1):196. doi: 10.1186/s13023-023-02776-5. Orphanet J Rare Dis. 2023. PMID: 37480080 Free PMC article.
In this view, CPMS may be considered a sort of a temporary storage for patients' data and an effective tool for data sharing; it facilitates specialists' consultation since rare diseases (RDs) require multidisciplinary skills, specific, and outstanding clinical experience. …
In this view, CPMS may be considered a sort of a temporary storage for patients' data and an effective tool for data sharing; it faci …
Nucleo-cytoplasmic transport defects and protein aggregates in neurodegeneration.
Bitetto G, Di Fonzo A. Bitetto G, et al. Transl Neurodegener. 2020 Jul 3;9(1):25. doi: 10.1186/s40035-020-00205-2. Transl Neurodegener. 2020. PMID: 32616075 Free PMC article. Review.
The clinical and neuropathological spectrum of NPC defects is broad, ranging from physiological aging to a suite of neurodegenerative diseases. A better understanding of the shared pathways among these conditions may represent a significant step toward dissecting their und …
The clinical and neuropathological spectrum of NPC defects is broad, ranging from physiological aging to a suite of neurodegenerative diseas …
Role of Immunoglobulins in Muscular Dystrophies and Inflammatory Myopathies.
Farini A, Villa C, Tripodi L, Legato M, Torrente Y. Farini A, et al. Front Immunol. 2021 Jul 14;12:666879. doi: 10.3389/fimmu.2021.666879. eCollection 2021. Front Immunol. 2021. PMID: 34335568 Free PMC article. Review.
Despite the high variability of etiology, inflammation and involvement of both innate and adaptive immune response are shared features. The best understood immune mechanisms involved in these pathologies include complement cascade activation, auto-antibodies directed again …
Despite the high variability of etiology, inflammation and involvement of both innate and adaptive immune response are shared feature …
The contribution of Neanderthal introgression and natural selection to neurodegenerative diseases.
Chen Z, Reynolds RH, Pardiñas AF, Gagliano Taliun SA, van Rheenen W, Lin K, Shatunov A, Gustavsson EK, Fogh I, Jones AR, Robberecht W, Corcia P, Chiò A, Shaw PJ, Morrison KE, Veldink JH, van den Berg LH, Shaw CE, Powell JF, Silani V, Hardy JA, Houlden H, Owen MJ, Turner MR, Ryten M, Al-Chalabi A. Chen Z, et al. Neurobiol Dis. 2023 May;180:106082. doi: 10.1016/j.nbd.2023.106082. Epub 2023 Mar 15. Neurobiol Dis. 2023. PMID: 36925053 Free article.
It is not known whether this vulnerability is specific to anatomically-modern humans or shared with other hominids. The contribution of introgressed Neanderthal DNA to neurodegenerative disorders remains uncertain. ...
It is not known whether this vulnerability is specific to anatomically-modern humans or shared with other hominids. The contribution …
92 results