Skip to main content
Advertisement
  • Neurology.org
  • Journals
    • Neurology
    • Clinical Practice
    • Genetics
    • Neuroimmunology & Neuroinflammation
    • Education
  • Online Sections
    • Neurology Video Journal Club
    • Inclusion, Diversity, Equity, Anti-racism, & Social Justice (IDEAS)
    • Innovations in Care Delivery
    • Practice Buzz
    • Practice Current
    • Residents & Fellows
    • Without Borders
  • Collections
    • COVID-19
    • Disputes & Debates
    • Health Disparities
    • Infographics
    • Null Hypothesis
    • Patient Pages
    • Translations
    • Topics A-Z
  • Podcast
  • CME
  • About
    • About the Journals
    • Contact Us
    • Editorial Board
  • Authors
    • Submit a Manuscript
    • Author Center

Advanced Search

Main menu

  • Neurology.org
  • Journals
    • Neurology
    • Clinical Practice
    • Genetics
    • Neuroimmunology & Neuroinflammation
    • Education
  • Online Sections
    • Neurology Video Journal Club
    • Inclusion, Diversity, Equity, Anti-racism, & Social Justice (IDEAS)
    • Innovations in Care Delivery
    • Practice Buzz
    • Practice Current
    • Residents & Fellows
    • Without Borders
  • Collections
    • COVID-19
    • Disputes & Debates
    • Health Disparities
    • Infographics
    • Null Hypothesis
    • Patient Pages
    • Translations
    • Topics A-Z
  • Podcast
  • CME
  • About
    • About the Journals
    • Contact Us
    • Editorial Board
  • Authors
    • Submit a Manuscript
    • Author Center
  • Home
  • Articles
  • Issues

User menu

  • My Alerts
  • Log in

Search

  • Advanced search
Neurology Genetics
Home
A peer-reviewed clinical and translational neurology open access journal
  • My Alerts
  • Log in
Site Logo
  • Home
  • Articles
  • Issues

Latest Articles

  • Clinical/Scientific Notes
    Confirming Pathogenicity of the F386L PSEN1 Variant in a South Asian Family With Early-Onset Alzheimer Disease
    Sarah J. Eger, Yann Le Guen, Raiyan R. Khan, et al.
    December 07, 2021
  • Article
    Transcript-Specific Loss-of-Function Variants in VPS16 Are Enriched in Patients With Dystonia
    Joohyun Park, Annemarie Reilaender, Jan N. Petry-Schmelzer, et al.
    December 07, 2021
  • Clinical/Scientific Notes
    Pathogenic NOTCH3 Variants Are Frequent Among the Korean General Population
    Chul-Hoo Kang, Young Mee Kim, Yang-Ji Kim, et al.
    December 06, 2021
  • Article
    Novel Variations in the KDM5C Gene Causing X-Linked Intellectual Disability
    Po-Ming Wu, Wen-Hao Yu, Chi-Wu Chiang, et al.
    December 03, 2021
  • Clinical/Scientific Note
    White Matter Hyperintensities and Cerebral Microbleeds in Ataxia-Telangiectasia
    May Yung Tiet, Stefania Nannoni, Daniel Scoffings, et al.
    November 30, 2021
  • Article
    Diagnosis of Shashi-Pena Syndrome Caused by Chromosomal Rearrangement Using Nanopore Sequencing
    Ya Wang, Jianxin Tan, Yan Wang, et al.
    November 23, 2021
  • Clinical/Scientific Notes
    A 3.9-Mb Deletion on 2p11.2 Comprising the REEP1 Gene Causes Early-Onset Atypical Parkinsonism
    Raquel Baviera-Muñoz, Dolores Martínez-Rubio, Isabel Sastre-Bataller, et al.
    November 19, 2021
  • Article
    PURA-Related Developmental and Epileptic EncephalopathyPhenotypic and Genotypic Spectrum
    Katrine M. Johannesen, Elena Gardella, Cathrine E. Gjerulfsen, et al.
    November 15, 2021
  • Editorial
    Body Mass Index and Height in Friedreich AtaxiaWhat Do We Know?
    Sylvia M. Boesch, Elisabetta Indelicato
    November 12, 2021
  • Article
    Progressive Myoclonus EpilepsiesDiagnostic Yield With Next-Generation Sequencing in Previously Unsolved Cases
    Laura Canafoglia, Silvana Franceschetti, Antonio Gambardella, et al.
    November 12, 2021

Pages

  • First
  • Previous
  • …
  • 2
  • 3
  • 4
  • 5
  • 6
  • 7
  • 8
  • 9
  • 10
  • …
  • Next
  • Last
Advertisement
Neurology Genetics: 8 (5)

Articles

  • Articles
  • Issues
  • Popular Articles

About

  • About the Journals
  • Ethics Policies
  • Editors & Editorial Board
  • Contact Us
  • Advertise

Submit

  • Author Center
  • Submit a Manuscript
  • Information for Reviewers
  • AAN Guidelines
  • Permissions

Subscribers

  • Subscribe
  • Sign up for eAlerts
  • RSS Feed
Site Logo
  • Visit neurology Template on Facebook
  • Follow neurology Template on Twitter
  • Visit Neurology on YouTube
  • Neurology
  • Neurology: Clinical Practice
  • Neurology: Genetics
  • Neurology: Neuroimmunology & Neuroinflammation
  • Neurology: Education
  • AAN.com
  • AANnews
  • Continuum
  • Brain & Life
  • Neurology Today

Wolters Kluwer Logo

Neurology: Genetics | Online ISSN: 2376-7839

© 2022 American Academy of Neurology

  • Privacy Policy
  • Feedback
  • Advertise