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Neurology Genetics
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A peer-reviewed clinical and translational neurology open access journal
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February 2023; 9 (1)

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Research Articles

  • Open Access
    Prevalence of Frontotemporal Dementia in Females of 5 Hispanic Families With R159H VCP Multisystem Proteinopathy
    Alyaa Shmara, Liliane Gibbs, Ryan Patrick Mahoney, Kyle Hurth, Vanessa S. Goodwill, Alicia Cuber, Regina Im, Donald P. Pizzo, Jerry Brown, Christina Laukaitis, Shalini Mahajan, Virginia Kimonis
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  • Open Access
    Toward the Definition of Patient-Reported Outcome Measurements in Hereditary Spastic Paraplegia
    Matthias Amprosi, Elisabetta Indelicato, Andreas Eigentler, Josef Fritz, Wolfgang Nachbauer, Sylvia Boesch
    • Abstract
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  • Open Access
    Novel Homozygous Variant in COQ7 in Siblings With Hereditary Motor Neuropathy
    Ian C. Smith, Chantal A. Pileggi, Ying Wang, Kristin Kernohan, Taila Hartley, Hugh J. McMillan, Marcos Loreto Sampaio, Gerd Melkus, John Woulfe, Gaganvir Parmar, Pierre R. Bourque, Ari Breiner, Jocelyn Zwicker, C. Elizabeth Pringle, Olga Jarinova, Hanns Lochmüller, David A. Dyment, Bernard Brais, Kym M. Boycott, Siegfried Hekimi, Mary-Ellen Harper, Jodi Warman-Chardon
    • Abstract
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  • Open Access
    Copy Number Variant Analysis of Spinocerebellar Ataxia Genes in a Cohort of Dutch Patients With Cerebellar Ataxia
    Fatemeh Ghorbani, Eddy N. de Boer, Marloes Benjamins-Stok, Corien C. Verschuuren-Bemelmans, Jurjen Knapper, Jelkje de Boer-Bergsma, Jeroen J. de Vries, Birgit Sikkema-Raddatz, Dineke S. Verbeek, Helga Westers, Cleo C. van Diemen
    • Abstract
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  • Open Access
    High-Depth PRNP Sequencing in Brains With Sporadic Creutzfeldt-Jakob Disease
    Alexander G. Murley, Yu Nie, Zoe Golder, Michael John Keogh, Colin Smith, James W. Ironside, Patrick F. Chinnery
    • Abstract
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  • Open Access
    Neuropathology-Independent Association Between APOE Genotype and Cognitive Decline Rate in the Normal Aging-Early Alzheimer Continuum
    Jing Qian, Yiding Zhang, Rebecca A. Betensky, Bradley T. Hyman, Alberto Serrano-Pozo
    • Abstract
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  • Open Access
    Expanding the Allelic Heterogeneity of ANO10-Associated Autosomal Recessive Cerebellar Ataxia
    Sean Massey, Yiran Guo, Lisa G. Riley, Nicole J. Van Bergen, Sarah A. Sandaradura, Elizabeth McCusker, Michel Tchan, Christel Thauvin-Robinet, Quentin Thomas, Thibault Moreau, Mark Davis, Daphne Smits, Grazia M.S. Mancini, Hakon Hakonarson, Sandra Cooper, John Christodoulou
    • Abstract
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  • Open Access
    Clinical Manifestation of Nebulin-Associated Nemaline Myopathy
    Cristiane Araujo Martins Moreno, Mariana Cunha Artilheiro, Alulin Tacio Quadros Santos Monteiro Fonseca, Clara Gontijo Camelo, Gisele Chagas de Medeiros, Fernanda Chiarion Sassi, Claudia Regina Furquim de Andrade, Sandra Donkervoort, Andre Macedo Serafim Silva, Luiz Dalfior-Junior, Osorio Lopes Abath-Neto, Umbertina Conti Reed, Carsten Bönnemann, Edmar Zanoteli
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  • Open Access
    Genetic Risk for Alzheimer Disease and Plasma Tau Are Associated With Accelerated Parietal Cortex Thickness Change in Middle-Aged Adults
    Jasmeet Pannu Hayes, Meghan E. Pierce, Emma Brown, David Salat, Mark W. Logue, Julie Constantinescu, Kate Valerio, Mark W. Miller, Richard Sherva, Bertrand Russell Huber, William Milberg, Regina McGlinchey
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Clinical/Scientific Notes

  • Open Access
    Neurodevelopmental Disorder, Obesity, Pancytopenia, Diabetes Mellitus, Cirrhosis, and Renal Failure in ACBD6-Associated SyndromeA Case Report
    Patra Yeetong, Natthaporn Tanpowpong, Supphakorn Rakwongkhachon, Kanya Suphapeetiporn, Vorasuk Shotelersuk
    • Abstract
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  • Open Access
    Severe Cerebral Small Vessel Disease Caused by the Uniallelic p.A252T Variant of HTRA1
    Yasufumi Kondo, Tsuneaki Yoshinaga, Katsuya Nakamura, Tomomi Yamaguchi, Masumi Ishikawa, Tomoki Kosho, Yoshiki Sekijima
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Neurology Genetics: 9 (1)
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  • Genetic Risk for Alzheimer Disease and Plasma Tau Are Associated With Accelerated Parietal Cortex Thickness Change in Middle-Aged Adults
  • Copy Number Variant Analysis of Spinocerebellar Ataxia Genes in a Cohort of Dutch Patients With Cerebellar Ataxia
  • RFC1-Related DiseaseMolecular and Clinical Insights
  • Mutation in POLR3K causes hypomyelinating leukodystrophy and abnormal ribosomal RNA regulation
  • Overview of the Clinical Approach to Individuals With Cerebellar Ataxia and Neuropathy
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SARS-CoV-2 Vaccination Safety in Guillain-Barré Syndrome, Chronic Inflammatory Demyelinating Polyneuropathy, and Multifocal Motor Neuropathy

Dr. Jeffrey Allen and Dr. Nicholas Purcell

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