Articles
- Open AccessClinical Deep Phenotyping of ABCA7 Mutation CarriersAlana S. Campbell, Charlotte C.G. Ho, Merve Atık, Mariet Allen, Sarah Lincoln, Kimberly Malphrus, Thuy Nguyen, Stephanie R. Oatman, Morgane Corda, Olivia Conway, Samantha Strickland, Ronald C. Petersen, Dennis W. Dickson, Neill R. Graff-Radford, Nilüfer Ertekin-Taner
- Open AccessAxonal Polyneuropathy in 2 Brothers With a Homozygous Missense Variant in the First Catalytic Domain of PCYT2Lea Leonardis, Marusa Skrjanec Pusenjak, Ales Maver, Helena Jaklic, Ana Ozura Brecko, Blaz Koritnik, Borut Peterlin, Karin Writzl
- Open AccessNovel Pathogenic Sequence Variation m.5789T>C Causes NARP Syndrome and Promotes Formation of Deletions of the Mitochondrial GenomeMarius Hippen, Gábor Zsurka, Viktoriya Peeva, Judith Machts, Kati Schwiecker, Grazyna Debska-Vielhaber, Rudolf J. Wiesner, Stefan Vielhaber, Wolfram S. Kunz
- Open AccessCross-sectional Observations on the Natural History of Mucolipidosis Type IVAlbert L. Misko, Levi B. Wood, Madeline DeBono, Rebecca Oberman, Annick Raas-Rothschild, Yulia Grishchuk, Florian Eichler
- Open AccessClinical-Genetic Features Influencing Disability in Spastic Paraplegia Type 4A Cross-sectional Study by the Italian DAISY NetworkSalvatore Rossi, Anna Rubegni, Vittorio Riso, Melissa Barghigiani, Maria Teresa Bassi, Roberta Battini, Enrico Bertini, Cristina Cereda, Ettore Cioffi, Chiara Criscuolo, Beatrice Dal Fabbro, Clemente Dato, Maria Grazia D'Angelo, Antonio Di Muzio, Luca Diamanti, Maria Teresa Dotti, Alessandro Filla, Valeria Gioiosa, Rocco Liguori, Andrea Martinuzzi, Roberto Massa, Andrea Mignarri, Rossana Moroni, Olimpia Musumeci, Francesco Nicita, Ilaria Orologio, Laura Orsi, Elena Pegoraro, Antonio Petrucci, Massimo Plumari, Ivana Ricca, Giovanni Rizzo, Silvia Romano, Roberto Rumore, Simone Sampaolo, Marina Scarlato, Marco Seri, Cristina Stefan, Giulia Straccia, Alessandra Tessa, Lorena Travaglini, Rosanna Trovato, Lucia Ulgheri, Giovanni Vazza, Antonio Orlacchio, Gabriella Silvestri, Filippo Maria Santorelli, Mariarosa Anna Beatrice Melone, Carlo Casali
- Open AccessALS in FinlandMajor Genetic Variants and Clinical Characteristics of Patients With and Without the C9orf72 Hexanucleotide Repeat ExpansionHannu Laaksovirta, Jyrki Launes, Lilja Jansson, Bryan J. Traynor, Karri Kaivola, Pentti J. Tienari
- Open AccessNot Just Loss-of-Function VariationsIdentification of a Hypermorphic Variant in a Patient With a CDKL5 Missense SubstitutionAngelisa Frasca, Efterpi Pavlidou, Matteo Bizzotto, Yunan Gao, Dario Balestra, Mirko Pinotti, Hans Atli Dahl, Nicholas D. Mazarakis, Nicoletta Landsberger, Maria Kinali
Clinical/Scientific Notes
- Open AccessParoxysmal Kinesigenic Dyskinesia Caused by 16p11.2 Microdeletion and Related Clinical FeaturesYu-Lan Chen, Dian-Fu Chen, Hua-Zhen Ke, Shao-Yun Zhao, Hong-Fu Li, Zhi-Ying Wu
- Open AccessNovel SEPSECS Pathogenic Variants Featuring Unusual Phenotype of Complex Movement Disorder With Thin Corpus CallosumA Case ReportFrancesco Nicita, Lorena Travaglini, Francesco Bombelli, Michele Tosi, Stefano Pro, Enrico Bertini, Adele D'Amico
Views & Reviews
- Open AccessTherapy Trial Design in Vanishing White MatterAn Expert Consortium OpinionMarjo S. van der Knaap, Joshua L. Bonkowsky, Adeline Vanderver, Raphael Schiffmann, Ingeborg Krägeloh-Mann, Enrico Bertini, Genevieve Bernard, Seyed Ali Fatemi, Nicole I. Wolf, Elise Saunier-Vivar, Robert Rauner, Hanka Dekker, Pieter van Bokhoven, Peter van de Ven, Prisca S. Leferink
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