Neurogenetics - The Best of neurogenetics 2020-2021
We are showcasing the top cited articles from neurogenetics, published in 2020 and 2021. This collection features the highlights of the latest academic research. We hope you enjoy your free reading!
Cerebellar cognitive-affective syndrome preceding ataxia associated with complex extrapyramidal features in a Turkish SCA48 family (this opens in a new tab)
R. Palvadeau, Z. E. Kaya-Güleç, G. Şimşir, A. Vural, Ö. Öztop-Çakmak, G. Genç, M. S. Aygün, O. Falay, A. Nazlı Başak & S. Ertan
Mitochondrial epilepsy: a cross-sectional nationwide Italian survey (this opens in a new tab)
Chiara Ticci, Federico Sicca, Anna Ardissone, Enrico Bertini, Valerio Carelli, Daria Diodato, Lidia Di Vito, Massimiliano Filosto, Chiara La Morgia, Costanza Lamperti, Diego Martinelli, Isabella Moroni, Olimpia Musumeci, Daniele Orsucci, Elia Pancheri, Lorenzo Peverelli, Guido Primiano, Anna Rubegni, Serenella Servidei, Gabriele Siciliano, Costanza Simoncini, Paola Tonin, Antonio Toscano, Michelangelo Mancuso & Filippo M. Santorelli
Oligogenicity, C9orf72 expansion, and variant severity in ALS (this opens in a new tab)
Jay P. Ross, Claire S. Leblond, Sandra B. Laurent, Dan Spiegelman, Alexandre Dionne-Laporte, William Camu, Nicolas Dupré, Patrick A. Dion & Guy A. Rouleau
Age-dependent neurological phenotypes in a mouse model of PRRT2-related diseases (this opens in a new tab)
Fay AJ, McMahon T, Im C, Bair-Marshall C, Niesner KJ, Li H, Nelson A, Voglmaier SM, Fu Y-H & Ptáček LJ
Loss of mitochondrial ClpP, Lonp1, and Tfam triggers transcriptional induction of Rnf213, a susceptibility factor for moyamoya disease (this opens in a new tab)
Jana Key, Antonia Maletzko, Aneesha Kohli, Suzana Gispert, Sylvia Torres-Odio, Ilka Wittig, Juliana Heidler, Clea Bárcena, Carlos López-Otín, Yuanjiu Lei, A. Phillip West, Christian Münch & Georg Auburger
POLR3A variants with striatal involvement and extrapyramidal movement disorder (this opens in a new tab)
Inga Harting, Murtadha Al-Saady, Ingeborg Krägeloh-Mann, Annette Bley, Maja Hempel, Tatjana Bierhals, Stephanie Karch, Ute Moog, Geneviève Bernard, Richard Huntsman, Rosalina M. L. van Spaendonk, Maaike Vreeburg, Agustí Rodríguez-Palmero, Aurora Pujol, Marjo S. van der Knaap, Petra J. W. Pouwels & Nicole I. Wolf
Familial analysis reveals rare risk variants for migraine in regulatory regions (this opens in a new tab)
Tanya Ramdal Techlo, Andreas Høiberg Rasmussen, Peter L. Møller, Morten Bøttcher, Simon Winther, Olafur B. Davidsson, Isa A. Olofsson, Mona Ameri Chalmer, Lisette J. A. Kogelman, Mette Nyegaard, Jes Olesen & Thomas Folkmann Hansen
Polygenic risk scores indicates genetic overlap between peripheral pain syndromes and chronic postsurgical pain (this opens in a new tab)
Roel R. I. van Reij, Jan Willem Voncken, Elbert A. J. Joosten & Nynke J. van den Hoogen
Increasing involvement of CAPN1 variants in spastic ataxias and phenotype-genotype correlations (this opens in a new tab)
Jean-Loup Méreaux, Cristina Firanescu, Giulia Coarelli, Malin Kvarnung, Rita Rodrigues, Elena Pegoraro, Meriem Tazir, Frédéric Taithe, Rémi Valter, Vincent Huin, Kristina Lidström, Guillaume Banneau, Sara Morais, Livia Parodi, Marie Coutelier, Mélanie Papin, Per Svenningsson, Jean-Philippe Azulay, Isabel Alonso, Daniel Nilsson, Alexis Brice, Eric Le Guern, Rayomand Press, Giovanni Vazza, José Leal Loureiro, Cyril Goizet, Alexandra Durr, Martin Paucar & Giovanni Stevanin
Metachromatic leukodystrophy genotypes in The Netherlands reveal novel pathogenic ARSA variants in non-Caucasian patients (this opens in a new tab)
Shanice Beerepoot, Silvy J.M. van Dooren, Gajja S. Salomons, Jaap Jan Boelens, Edwin H. Jacobs, Marjo S. van der Knaap, André B.P. van Kuilenburg & Nicole I. Wolf