Works matching IS 00068950 AND DT 2021 AND VI 144 AND IP 9

Results: 45

The value of studying rare genetic variants and other emerging themes in neurogenetics.
Published in:
2021
By:
- Traynor, Bryan J;
- Gottesman, Rebecca F
Publication type:
journal article
Sleep and future cognitive decline.
Published in:
2021
By:
- Coulthard, Elizabeth;
- Blackman, Jonathan
Publication type:
journal article
Towards a comprehensive 3D mapping of tau progression in early Alzheimer's disease.
Published in:
2021
By:
- Khan, Ali R;
- Ottoy, Julie;
- Goubran, Maged
Publication type:
journal article
Another step towards defining the genetic landscape of rhabdomyolysis.
Published in:
2021
By:
- Ravenscroft, Gianina;
- Cabrera-Serrano, Macarena
Publication type:
journal article
Reply: Functional cognitive disorder: dementia's blind spot.
Published in:
2021
By:
- Ball, Harriet A;
- McWhirter, Laura;
- Ballard, Clive;
- Bhome, Rohan;
- Blackburn, Daniel J;
- Edwards, Mark J;
- Fox, Nick C;
- Howard, Robert;
- Huntley, Jonathan;
- Isaacs, Jeremy D;
- Larner, A J;
- Nicholson, Timothy R;
- Pennington, Catherine M;
- Poole, Norman;
- Price, Gary;
- Price, J P;
- Reuber, Markus;
- Ritchie, Craig;
- Rossor, Martin N;
- Schott, Jonathan M
Publication type:
journal article
Dying-back of ascending noradrenergic projections in Parkinson's disease.
Published in:
2021
By:
- Helmich, Rick C;
- Lehéricy, Stéphane
Publication type:
journal article
Reply: Looking beyond indirect lesion network mapping of prosopagnosia: direct measures required.
Published in:
2021
By:
- Cohen, Alexander L;
- Fox, Michael D
Publication type:
journal article
Erratum to: The GGC repeat expansion in NOTCH2NLC is associated with oculopharyngodistal myopathy type 3.
Published in:
2021
Publication type:
Journal Article
Whole-exome sequencing reveals a role of HTRA1 and EGFL8 in brain white matter hyperintensities.
Published in:
2021
By:
- Malik, Rainer;
- Beaufort, Nathalie;
- Frerich, Simon;
- Gesierich, Benno;
- Georgakis, Marios K;
- Rannikmäe, Kristiina;
- Ferguson, Amy C;
- Haffner, Christof;
- Traylor, Matthew;
- Ehrmann, Michael;
- Sudlow, Cathie L M;
- Dichgans, Martin
Publication type:
journal article
Looking beyond indirect lesion network mapping of prosopagnosia: direct measures required.
Published in:
2021
By:
- Bobes, Maria A;
- Stock, Jan Van den;
- Zhan, Minye;
- Valdes-Sosa, Mitchell;
- Gelder, Beatrice de;
- Van den Stock, Jan;
- de Gelder, Beatrice
Publication type:
journal article
Heterozygous HTRA1 nonsense or frameshift mutations are pathogenic.
Published in:
2021
By:
- Coste, Thibault;
- Hervé, Dominique;
- Neau, Jean Philippe;
- Jouvent, Eric;
- Ba, Fatoumata;
- Bergametti, Françoise;
- Lamy, Matthias;
- Cogez, Julien;
- Derache, Nathalie;
- Schneckenburger, Romain;
- Grelet, Maude;
- Gollion, Cédric;
- Lanotte, Livia;
- Lauer, Valérie;
- Layet, Valérie;
- Urbanczyk, Cédric;
- Didic, Mira;
- Raynouard, Igor;
- Delaval, Laure;
- Dassa, Jérémie
Publication type:
journal article
Senior moments.
Published in:
Brain: A Journal of Neurology, 2021, v. 144, n. 9, p. 2892, doi. 10.1093/brain/awab270
By:
- Lees, A J
Publication type:
Article
Three-dimensional mapping of neurofibrillary tangle burden in the human medial temporal lobe.
Published in:
2021
By:
- Yushkevich, Paul A;
- López, Mónica Muñoz;
- Martin, María Mercedes Iñiguez de Onzoño;
- Ittyerah, Ranjit;
- Lim, Sydney;
- Ravikumar, Sadhana;
- Bedard, Madigan L;
- Pickup, Stephen;
- Liu, Weixia;
- Wang, Jiancong;
- Hung, Ling Yu;
- Lasserve, Jade;
- Vergnet, Nicolas;
- Xie, Long;
- Dong, Mengjin;
- Cui, Salena;
- McCollum, Lauren;
- Robinson, John L;
- Schuck, Theresa;
- Flores, Robin de
Publication type:
journal article
MLIP causes recessive myopathy with rhabdomyolysis, myalgia and baseline elevated serum creatine kinase.
Published in:
2021
By:
- Neto, Osorio Lopes Abath;
- Medne, Livija;
- Donkervoort, Sandra;
- Rodríguez-García, Maria Elena;
- Bolduc, Véronique;
- Hu, Ying;
- Guadagnin, Eleonora;
- Foley, A Reghan;
- Brandsema, John F;
- Glanzman, Allan M;
- Tennekoon, Gihan I;
- Santi, Mariarita;
- Berger, Justin H;
- Megeney, Lynn A;
- Komaki, Hirofumi;
- Inoue, Michio;
- Cotrina-Vinagre, Francisco Javier;
- Hernández-Lain, Aurelio;
- Martin-Hernández, Elena;
- Williams, Linford
Publication type:
journal article
Sleep and longitudinal cognitive performance in preclinical and early symptomatic Alzheimer's disease.
Published in:
2021
By:
- Lucey, Brendan P;
- Wisch, Julie;
- Boerwinkle, Anna H;
- Landsness, Eric C;
- Toedebusch, Cristina D;
- McLeland, Jennifer S;
- Butt, Omar H;
- Hassenstab, Jason;
- Morris, John C;
- Ances, Beau M;
- Holtzman, David M
Publication type:
journal article
Corrigendum to: Medial temporal lobe connectivity and its associations with cognition in early Alzheimer's disease.
Published in:
2021
By:
- Berron, David;
- Westen, Danielle van;
- Ossenkoppele, Rik;
- Strandberg, Olof;
- Hansson, Oskar;
- van Westen, Danielle
Publication type:
Journal Article
MATR3 haploinsufficiency and early-onset neurodegeneration.
Published in:
2021
By:
- Zech, Michael;
- Seibt, Annette;
- Zumbaum, Barbara;
- Klee, Dirk;
- Meitinger, Thomas;
- Winkelmann, Juliane;
- Mayatepek, Ertan;
- Wagner, Matias;
- Distelmaier, Felix;
- Mayatpepek, Ertan
Publication type:
Case Study
Erratum to: Reply: UQCRC1 variants in Parkinson's disease: a large cohort study in Chinese mainland population.
Published in:
2021
By:
- Lin, Chin-Hsien;
- Farrer, Matthew J;
- Wu, Ruey-Meei
Publication type:
Journal Article
Regional locus coeruleus degeneration is uncoupled from noradrenergic terminal loss in Parkinson's disease.
Published in:
2021
By:
- Doppler, Christopher E J;
- Kinnerup, Martin B;
- Brune, Corinna;
- Farrher, Ezequiel;
- Betts, Matthew;
- Fedorova, Tatyana D;
- Schaldemose, Jeppe L;
- Knudsen, Karoline;
- Ismail, Rola;
- Seger, Aline D;
- Hansen, Allan K;
- Stær, Kristian;
- Fink, Gereon R;
- Brooks, David J;
- Nahimi, Adjmal;
- Borghammer, Per;
- Sommerauer, Michael
Publication type:
journal article
Corrigendum to: Formation and immunomodulatory function of meningeal B cell aggregates in progressive CNS autoimmunity.
Published in:
2021
By:
- Mitsdoerffer, Meike;
- Liberto, Giovanni Di;
- Dötsch, Sarah;
- Sie, Christopher;
- Wagner, Ingrid;
- Pfaller, Monika;
- Kreutzfeldt, Mario;
- Fräßle, Simon;
- Aly, Lilian;
- Knier, Benjamin;
- Busch, Dirk H;
- Merkler, Doron;
- Korn, Thomas;
- Di Liberto, Giovanni
Publication type:
Journal Article
Erratum to: The Developing Human Connectome Project: typical and disrupted perinatal functional connectivity.
Published in:
2021
By:
- Eyre, Michael;
- Fitzgibbon, Sean P;
- Ciarrusta, Judit;
- Cordero-Grande, Lucilio;
- Price, Anthony N;
- Poppe, Tanya;
- Schuh, Andreas;
- Hughes, Emer;
- O'Keeffe, Camilla;
- Brandon, Jakki;
- Cromb, Daniel;
- Vecchiato, Katy;
- Andersson, Jesper;
- Duff, Eugene P;
- Counsell, Serena J;
- Smith, Stephen M;
- Rueckert, Daniel;
- Hajnal, Joseph V;
- Arichi, Tomoki;
- O'Muircheartaigh, Jonathan
Publication type:
corrected article
Erratum to: Reply: Broca's area: why was neurosurgery neglected for so long when seeking to re-establish the scientific truth? and Where is the speech production area? Evidence from direct cortical electrical stimulation mapping.
Published in:
2021
By:
- Lorca-Puls, Diego L;
- Gajardo-Vidal, Andrea;
- Green, David W;
- Price, Cathy J
Publication type:
corrected article
Myopathic mitochondrial DNA depletion syndrome associated with biallelic variants in LIG3.
Published in:
2021
By:
- Invernizzi, Federica;
- Legati, Andrea;
- Nasca, Alessia;
- Lamantea, Eleonora;
- Garavaglia, Barbara;
- Gusic, Mirjana;
- Kopajtich, Robert;
- Prokisch, Holger;
- Zeviani, Massimo;
- Lamperti, Costanza;
- Ghezzi, Daniele;
- Gusic, Mjriana
Publication type:
journal article
Corrigendum to: CSF tau microtubule binding region identifies tau tangle and clinical stages of Alzheimer's disease.
Published in:
2021
By:
- Horie, Kanta;
- Barthélemy, Nicolas R;
- Sato, Chihiro;
- Bateman, Randall J
Publication type:
Journal Article
Erratum to: Medial septal GABAergic neurons reduce seizure duration upon optogenetic closed-loop stimulation.
Published in:
2021
Publication type:
Journal Article
SLITRK2, an X-linked modifier of the age at onset in C9orf72 frontotemporal lobar degeneration.
Published in:
Brain: A Journal of Neurology, 2021, v. 144, n. 9, p. 2798, doi. 10.1093/brain/awab171
By:
- Barbier, Mathieu;
- Camuzat, Agnès;
- Hachimi, Khalid El;
- Guegan, Justine;
- Rinaldi, Daisy;
- Lattante, Serena;
- Houot, Marion;
- Sánchez-Valle, Raquel;
- Sabatelli, Mario;
- Antonell, Anna;
- Molina-Porcel, Laura;
- Clot, Fabienne;
- Couratier, Philippe;
- van der Ende, Emma;
- van der Zee, Julie;
- Manzoni, Claudia;
- Camu, William;
- Cazeneuve, Cécile;
- Sellal, François;
- Didic, Mira
Publication type:
Article
Mapping autonomic, mood and cognitive effects of hypothalamic region deep brain stimulation.
Published in:
2021
By:
- Neudorfer, Clemens;
- Elias, Gavin J B;
- Jakobs, Martin;
- Boutet, Alexandre;
- Germann, Jürgen;
- Narang, Keshav;
- Loh, Aaron;
- Paff, Michelle;
- Horn, Andreas;
- Kucharczyk, Walter;
- Deeb, Wissam;
- Salvato, Bryan;
- Almeida, Leonardo;
- Foote, Kelly D;
- Rosenberg, Paul B;
- Tang-Wai, David F;
- Anderson, William S;
- Mari, Zoltan;
- Ponce, Francisco A;
- Wolk, David A
Publication type:
journal article
The unfolded protein response in amyotrophic later sclerosis: results of a phase 2 trial.
Published in:
2021
By:
- Bella, Eleonora Dalla;
- Bersano, Enrica;
- Antonini, Giovanni;
- Borghero, Giuseppe;
- Capasso, Margherita;
- Caponnetto, Claudia;
- Chiò, Adriano;
- Corbo, Massimo;
- Filosto, Massimiliano;
- Giannini, Fabio;
- Spataro, Rossella;
- Lunetta, Christian;
- Mandrioli, Jessica;
- Messina, Sonia;
- Monsurrò, Maria Rosaria;
- Mora, Gabriele;
- Riva, Nilo;
- Rizzi, Romana;
- Siciliano, Gabriele;
- Silani, Vincenzo
Publication type:
journal article
Plasma markers predict changes in amyloid, tau, atrophy and cognition in non-demented subjects.
Published in:
2021
By:
- Pereira, Joana B;
- Janelidze, Shorena;
- Stomrud, Erik;
- Palmqvist, Sebastian;
- Westen, Danielle van;
- Dage, Jeffrey L;
- Mattsson-Carlgren, Niklas;
- Hansson, Oskar;
- van Westen, Danielle
Publication type:
journal article
Early childhood epilepsies: epidemiology, classification, aetiology, and socio-economic determinants.
Published in:
2021
By:
- Symonds, Joseph D;
- Elliott, Katherine S;
- Shetty, Jay;
- Armstrong, Martin;
- Brunklaus, Andreas;
- Cutcutache, Ioana;
- Diver, Louise A;
- Dorris, Liam;
- Gardiner, Sarah;
- Jollands, Alice;
- Joss, Shelagh;
- Kirkpatrick, Martin;
- McLellan, Ailsa;
- MacLeod, Stewart;
- O'Regan, Mary;
- Page, Matthew;
- Pilley, Elizabeth;
- Pilz, Daniela T;
- Stephen, Elma;
- Stewart, Kirsty
Publication type:
journal article
HOPS-associated neurological disorders (HOPSANDs): linking endolysosomal dysfunction to the pathogenesis of dystonia.
Published in:
2021
By:
- Monfrini, Edoardo;
- Zech, Michael;
- Steel, Dora;
- Kurian, Manju A;
- Winkelmann, Juliane;
- Fonzo, Alessio Di;
- Di Fonzo, Alessio
Publication type:
journal article
Visual agnosia and imagery after Lissauer.
Published in:
2021
By:
- Bartolomeo, Paolo
Publication type:
journal article
The role of gut dysbiosis in Parkinson's disease: mechanistic insights and therapeutic options.
Published in:
2021
By:
- Wang, Qing;
- Luo, Yuqi;
- Chaudhuri, K Ray;
- Reynolds, Richard;
- Tan, Eng-King;
- Pettersson, Sven;
- Ray Chaudhuri, K
Publication type:
journal article
Tumour immune landscape of paediatric high-grade gliomas.
Published in:
2021
By:
- Ross, James L;
- Vega, Jose Velazquez;
- Plant, Ashley;
- MacDonald, Tobey J;
- Becher, Oren J;
- Hambardzumyan, Dolores;
- Velazquez Vega, Jose
Publication type:
journal article
A passive and objective measure of recognition memory in Alzheimer's disease using Fastball memory assessment.
Published in:
2021
By:
- Stothart, George;
- Smith, Laura J;
- Milton, Alexander;
- Coulthard, Elizabeth
Publication type:
journal article
Distinctive clinical presentation and pathogenic specificities of anti-AK5 encephalitis.
Published in:
2021
By:
- Muñiz-Castrillo, Sergio;
- Hedou, Julien Jacques;
- Ambati, Aditya;
- Jones, David;
- Vogrig, Alberto;
- Pinto, Anne-Laurie;
- Benaiteau, Marie;
- Broucker, Thomas de;
- Fechtenbaum, Laura;
- Labauge, Pierre;
- Murnane, Matthew;
- Nocon, Claire;
- Taifas, Irina;
- Pémille, Clément Vialatte de;
- Psimaras, Dimitri;
- Joubert, Bastien;
- Dubois, Valérie;
- Wucher, Valentin;
- Desestret, Virginie;
- Mignot, Emmanuel
Publication type:
journal article
An in vivo Caenorhabditis elegans model for therapeutic research in human prion diseases.
Published in:
2021
By:
- Bizat, Nicolas;
- Parrales, Valeria;
- Laoues, Sofian;
- Normant, Sébastien;
- Levavasseur, Etienne;
- Roussel, Julian;
- Privat, Nicolas;
- Gougerot, Alexianne;
- Ravassard, Philippe;
- Beaudry, Patrice;
- Brandel, Jean-Philippe;
- Laplanche, Jean-Louis;
- Haïk, Stéphane
Publication type:
journal article
COVID-19 neuropathology at Columbia University Irving Medical Center/New York Presbyterian Hospital.
Published in:
2021
By:
- Thakur, Kiran T;
- Miller, Emily Happy;
- Glendinning, Michael D;
- Al-Dalahmah, Osama;
- Banu, Matei A;
- Boehme, Amelia K;
- Boubour, Alexandra L;
- Bruce, Samuel S;
- Chong, Alexander M;
- Claassen, Jan;
- Faust, Phyllis L;
- Hargus, Gunnar;
- Hickman, Richard A;
- Jambawalikar, Sachin;
- Khandji, Alexander G;
- Kim, Carla Y;
- Klein, Robyn S;
- Lignelli-Dipple, Angela;
- Lin, Chun-Chieh;
- Liu, Yang
Publication type:
Journal Article
Classification of neurological diseases using multi-dimensional CSF analysis.
Published in:
2021
By:
- Gross, Catharina C;
- Schulte-Mecklenbeck, Andreas;
- Madireddy, Lohith;
- Pawlitzki, Marc;
- Strippel, Christine;
- Räuber, Saskia;
- Krämer, Julia;
- Rolfes, Leoni;
- Ruck, Tobias;
- Beuker, Carolin;
- Schmidt-Pogoda, Antje;
- Lohmann, Lisa;
- Schneider-Hohendorf, Tilman;
- Hahn, Tim;
- Schwab, Nicholas;
- Minnerup, Jens;
- Melzer, Nico;
- Klotz, Luisa;
- Meuth, Sven G;
- Hörste, Gerd Meyer zu
Publication type:
journal article
Kcnq2/Kv7.2 controls the threshold and bi-hemispheric symmetry of cortical spreading depolarization.
Published in:
2021
By:
- Aiba, Isamu;
- Noebels, Jeffrey L
Publication type:
journal article
Amyloid-β toxicity modulates tau phosphorylation through the PAX6 signalling pathway.
Published in:
2021
By:
- Zhang, Yalun;
- Zhang, Yi;
- Aman, Yahyah;
- Ng, Cheung Toa;
- Chau, Wing-Hin;
- Zhang, Zhigang;
- Yue, Ming;
- Bohm, Christopher;
- Jia, Yizhen;
- Li, Siwen;
- Yuan, Qiuju;
- Griffin, Jennifer;
- Chiu, Kin;
- Wong, Dana S M;
- Wang, Binbin;
- Jin, Dongyan;
- Rogaeva, Ekaterina;
- Fraser, Paul E;
- Fang, Evandro F;
- George-Hyslop, Peter St
Publication type:
journal article
TSPO PET imaging of natalizumab-associated progressive multifocal leukoencephalopathy.
Published in:
2021
By:
- Mahler, Christoph;
- Schumacher, Adrian-Minh;
- Unterrainer, Marcus;
- Kaiser, Lena;
- Höllbacher, Thomas;
- Lindner, Simon;
- Havla, Joachim;
- Ertl-Wagner, Birgit;
- Patzig, Maximilian;
- Seelos, Klaus;
- Neitzel, Julia;
- Mäurer, Matthias;
- Krumbholz, Markus;
- Metz, Imke;
- Brück, Wolfgang;
- Stadelmann, Christine;
- Merkler, Doron;
- Gass, Achim;
- Milenkovic, Vladimir;
- Bartenstein, Peter
Publication type:
journal article
Biallelic PI4KA variants cause a novel neurodevelopmental syndrome with hypomyelinating leukodystrophy.
Published in:
2021
By:
- Verdura, Edgard;
- Rodríguez-Palmero, Agustí;
- Vélez-Santamaria, Valentina;
- Planas-Serra, Laura;
- de la Calle, Irene;
- Raspall-Chaure, Miquel;
- Roubertie, Agathe;
- Benkirane, Mehdi;
- Saettini, Francesco;
- Pavinato, Lisa;
- Mandrile, Giorgia;
- O'Leary, Melanie;
- O'Heir, Emily;
- Barredo, Estibaliz;
- Chacón, Almudena;
- Michaud, Vincent;
- Goizet, Cyril;
- Ruiz, Montserrat;
- Schlüter, Agatha;
- Rouvet, Isabelle
Publication type:
journal article
Somatic MAP3K3 and PIK3CA mutations in sporadic cerebral and spinal cord cavernous malformations.
Published in:
2021
By:
- Hong, Tao;
- Xiao, Xiao;
- Ren, Jian;
- Cui, Bing;
- Zong, Yuru;
- Zou, Jian;
- Kou, Zqi;
- Jiang, Nan;
- Meng, Guolu;
- Zeng, Gao;
- Shan, Yongzhi;
- Wu, Hao;
- Chen, Zan;
- Liang, Jiantao;
- Xiao, Xinru;
- Tang, Jie;
- Wei, Yukui;
- Ye, Ming;
- Sun, Liyong;
- Li, Guilin
Publication type:
journal article
Early stages of tau pathology and its associations with functional connectivity, atrophy and memory.
Published in:
2021
By:
- Berron, David;
- Vogel, Jacob W;
- Insel, Philip S;
- Pereira, Joana B;
- Xie, Long;
- Wisse, Laura E M;
- Yushkevich, Paul A;
- Palmqvist, Sebastian;
- Mattsson-Carlgren, Niklas;
- Stomrud, Erik;
- Smith, Ruben;
- Strandberg, Olof;
- Hansson, Oskar
Publication type:
journal article