Works matching IS 00068950 AND DT 2022 AND VI 145 AND IP 2

Results: 36
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    Diagnostic value of cerebrospinal fluid alpha-synuclein seed quantification in synucleinopathies.

    Published in:
    2022
    By:
    • Poggiolini, Ilaria;
    • Gupta, Vandana;
    • Lawton, Michael;
    • Lee, Seoyun;
    • El-Turabi, Aadil;
    • Querejeta-Coma, Agustin;
    • Trenkwalder, Claudia;
    • Sixel-Döring, Friederike;
    • Foubert-Samier, Alexandra;
    • Traon, Anne Pavy-Le;
    • Plazzi, Giuseppe;
    • Biscarini, Francesco;
    • Montplaisir, Jacques;
    • Gagnon, Jean-François;
    • Postuma, Ronald B;
    • Antelmi, Elena;
    • Meissner, Wassilios G;
    • Mollenhauer, Brit;
    • Ben-Shlomo, Yoav;
    • Hu, Michele T
    Publication type:
    journal article
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    Blood DNA methylation provides an accurate biomarker of KMT2B-related dystonia and predicts onset.

    Published in:
    2022
    By:
    • Mirza-Schreiber, Nazanin;
    • Zech, Michael;
    • Wilson, Rory;
    • Brunet, Theresa;
    • Wagner, Matias;
    • Jech, Robert;
    • Boesch, Sylvia;
    • Škorvánek, Matej;
    • Necpál, Ján;
    • Weise, David;
    • Weber, Sandrina;
    • Mollenhauer, Brit;
    • Trenkwalder, Claudia;
    • Maier, Esther M;
    • Borggraefe, Ingo;
    • Vill, Katharina;
    • Hackenberg, Annette;
    • Pilshofer, Veronika;
    • Kotzaeridou, Urania;
    • Schwaibold, Eva Maria Christina
    Publication type:
    journal article
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    Forecasting stroke-like episodes and outcomes in mitochondrial disease.

    Published in:
    2022
    By:
    • Ng, Yi Shiau;
    • Lax, Nichola Z;
    • Blain, Alasdair P;
    • Erskine, Daniel;
    • Baker, Mark R;
    • Polvikoski, Tuomo;
    • Thomas, Rhys H;
    • Morris, Christopher M;
    • Lai, Ming;
    • Whittaker, Roger G;
    • Gebbels, Alasdair;
    • Winder, Amy;
    • Hall, Julie;
    • Feeney, Catherine;
    • Farrugia, Maria Elena;
    • Hirst, Claire;
    • Roberts, Mark;
    • Lawthom, Charlotte;
    • Chrysostomou, Alexia;
    • Murphy, Kevin
    Publication type:
    journal article
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    Diagnostic accuracy of cerebrospinal fluid biomarkers in genetic prion diseases.

    Published in:
    2022
    By:
    • Schmitz, Matthias;
    • Villar-Piqué, Anna;
    • Hermann, Peter;
    • Escaramís, Geòrgia;
    • Calero, Miguel;
    • Chen, Cao;
    • Kruse, Niels;
    • Cramm, Maria;
    • Golanska, Ewa;
    • Sikorska, Beata;
    • Liberski, Pawel P;
    • Pocchiari, Maurizio;
    • Lange, Peter;
    • Stehmann, Christiane;
    • Sarros, Shannon;
    • Martí, Eulàlia;
    • Baldeiras, Inês;
    • Santana, Isabel;
    • Žáková, Dana;
    • Mitrová, Eva
    Publication type:
    journal article
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    Resting-state EEG reveals four subphenotypes of amyotrophic lateral sclerosis.

    Published in:
    2022
    By:
    • Dukic, Stefan;
    • McMackin, Roisin;
    • Costello, Emmet;
    • Metzger, Marjorie;
    • Buxo, Teresa;
    • Fasano, Antonio;
    • Chipika, Rangariroyashe;
    • Pinto-Grau, Marta;
    • Schuster, Christina;
    • Hammond, Michaela;
    • Heverin, Mark;
    • Coffey, Amina;
    • Broderick, Michael;
    • Iyer, Parameswaran M;
    • Mohr, Kieran;
    • Gavin, Brighid;
    • McLaughlin, Russell;
    • Pender, Niall;
    • Bede, Peter;
    • Muthuraman, Muthuraman
    Publication type:
    journal article
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    Clinical and genetic spectrum of a large cohort of patients with δ-sarcoglycan muscular dystrophy.

    Published in:
    2022
    By:
    • Alonso-Pérez, Jorge;
    • González-Quereda, Lidia;
    • Bruno, Claudio;
    • Panicucci, Chiara;
    • Alavi, Afagh;
    • Nafissi, Shahriar;
    • Nilipour, Yalda;
    • Zanoteli, Edmar;
    • Isihi, Lucas Michielon de Augusto;
    • Melegh, Béla;
    • Hadzsiev, Kinga;
    • Muelas, Nuria;
    • Vílchez, Juan J;
    • Dourado, Mario Emilio;
    • Kadem, Naz;
    • Kutluk, Gultekin;
    • Umair, Muhammad;
    • Younus, Muhammad;
    • Pegorano, Elena;
    • Bello, Luca
    Publication type:
    journal article
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    Cerebrospinal fluid is a significant fluid source for anoxic cerebral oedema.

    Published in:
    2022
    By:
    • Du, Ting;
    • Mestre, Humberto;
    • Kress, Benjamin T;
    • Liu, Guojun;
    • Sweeney, Amanda M;
    • Samson, Andrew J;
    • Rasmussen, Martin Kaag;
    • Mortensen, Kristian Nygaard;
    • Bork, Peter A R;
    • Peng, Weiguo;
    • Olveda, Genaro E;
    • Bashford, Logan;
    • Toro, Edna R;
    • Tithof, Jeffrey;
    • Kelley, Douglas H;
    • Thomas, John H;
    • Hjorth, Poul G;
    • Martens, Erik A;
    • Mehta, Rupal I;
    • Hirase, Hajime
    Publication type:
    journal article
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    Genome-wide association study of febrile seizures implicates fever response and neuronal excitability genes.

    Published in:
    2022
    By:
    • Skotte, Line;
    • Fadista, João;
    • Bybjerg-Grauholm, Jonas;
    • Appadurai, Vivek;
    • Hildebrand, Michael S;
    • Hansen, Thomas F;
    • Banasik, Karina;
    • Grove, Jakob;
    • Albiñana, Clara;
    • Geller, Frank;
    • Bjurström, Carmen F;
    • Vilhjálmsson, Bjarni J;
    • Coleman, Matthew;
    • Damiano, John A;
    • Burgess, Rosemary;
    • Scheffer, Ingrid E;
    • Pedersen, Ole Birger Vesterager;
    • Erikstrup, Christian;
    • Westergaard, David;
    • Nielsen, Kaspar René
    Publication type:
    journal article
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    Cortical hypometabolism reflects local atrophy and tau pathology in symptomatic Alzheimer's disease.

    Published in:
    2022
    By:
    • Strom, Amelia;
    • Iaccarino, Leonardo;
    • Edwards, Lauren;
    • Lesman-Segev, Orit H;
    • Soleimani-Meigooni, David N;
    • Pham, Julie;
    • Baker, Suzanne L;
    • Landau, Susan M;
    • Jagust, William J;
    • Miller, Bruce L;
    • Rosen, Howard J;
    • Gorno-Tempini, Maria Luisa;
    • Rabinovici, Gil D;
    • Joie, Renaud La;
    • Initiative, for the Alzheimer's Disease Neuroimaging;
    • La Joie, Renaud;
    • Alzheimer’s Disease Neuroimaging Initiative
    Publication type:
    journal article