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Neurology Genetics
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A peer-reviewed clinical and translational neurology open access journal
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April 2022; 8 (2)

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  • Open Access
    Clinical Deep Phenotyping of ABCA7 Mutation Carriers
    Alana 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
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    Axonal Polyneuropathy in 2 Brothers With a Homozygous Missense Variant in the First Catalytic Domain of PCYT2
    Lea Leonardis, Marusa Skrjanec Pusenjak, Ales Maver, Helena Jaklic, Ana Ozura Brecko, Blaz Koritnik, Borut Peterlin, Karin Writzl
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  • Open Access
    Novel Pathogenic Sequence Variation m.5789T>C Causes NARP Syndrome and Promotes Formation of Deletions of the Mitochondrial Genome
    Marius Hippen, Gábor Zsurka, Viktoriya Peeva, Judith Machts, Kati Schwiecker, Grazyna Debska-Vielhaber, Rudolf J. Wiesner, Stefan Vielhaber, Wolfram S. Kunz
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    Cross-sectional Observations on the Natural History of Mucolipidosis Type IV
    Albert L. Misko, Levi B. Wood, Madeline DeBono, Rebecca Oberman, Annick Raas-Rothschild, Yulia Grishchuk, Florian Eichler
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    Clinical-Genetic Features Influencing Disability in Spastic Paraplegia Type 4A Cross-sectional Study by the Italian DAISY Network
    Salvatore 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
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  • Open Access
    ALS in FinlandMajor Genetic Variants and Clinical Characteristics of Patients With and Without the C9orf72 Hexanucleotide Repeat Expansion
    Hannu Laaksovirta, Jyrki Launes, Lilja Jansson, Bryan J. Traynor, Karri Kaivola, Pentti J. Tienari
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  • Open Access
    Not Just Loss-of-Function VariationsIdentification of a Hypermorphic Variant in a Patient With a CDKL5 Missense Substitution
    Angelisa Frasca, Efterpi Pavlidou, Matteo Bizzotto, Yunan Gao, Dario Balestra, Mirko Pinotti, Hans Atli Dahl, Nicholas D. Mazarakis, Nicoletta Landsberger, Maria Kinali
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Clinical/Scientific Notes

  • Open Access
    Paroxysmal Kinesigenic Dyskinesia Caused by 16p11.2 Microdeletion and Related Clinical Features
    Yu-Lan Chen, Dian-Fu Chen, Hua-Zhen Ke, Shao-Yun Zhao, Hong-Fu Li, Zhi-Ying Wu
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  • Open Access
    Novel SEPSECS Pathogenic Variants Featuring Unusual Phenotype of Complex Movement Disorder With Thin Corpus CallosumA Case Report
    Francesco Nicita, Lorena Travaglini, Francesco Bombelli, Michele Tosi, Stefano Pro, Enrico Bertini, Adele D'Amico
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Views & Reviews

  • Open Access
    Therapy Trial Design in Vanishing White MatterAn Expert Consortium Opinion
    Marjo 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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Corrections

  • Migraine, Stroke, and Cervical Arterial DissectionShared Genetics for a Triad of Brain Disorders With Vascular Involvement
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  • Clinical-Genetic Features Influencing Disability in Spastic Paraplegia Type 4A Cross-sectional Study by the Italian DAISY Network
  • ALS in FinlandMajor Genetic Variants and Clinical Characteristics of Patients With and Without the C9orf72 Hexanucleotide Repeat Expansion
  • Cross-sectional Observations on the Natural History of Mucolipidosis Type IV
  • Clinical Deep Phenotyping of ABCA7 Mutation Carriers
  • Novel Pathogenic Sequence Variation m.5789T>C Causes NARP Syndrome and Promotes Formation of Deletions of the Mitochondrial Genome
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