Neurology Genetics | A peer-reviewed clinical and translational neurology open access journal

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Notable This Week

Selected by Stefan M. Pulst, MD, Dr med, Editor

ARTICLE |Silver-Russell Syndrome

Blended Phenotype of Silver-Russell Syndrome and SPG50 Caused by Maternal Isodisomy of Chromosome 7

REVIEW |Genetics

Neurology: Genetics Year in Review

ARTICLE |Neurovascular Disease

MAP3K6 Mutations in a Neurovascular Disease Causing Stroke, Cognitive Impairment, and Tremor

ARTICLE |CEDNIK Syndrome

New Cohort of Patients With CEDNIK Syndrome Expands the Phenotypic and Genotypic Spectra

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Latest Articles

Article
Progressive Ataxia and Neurologic Regression in RFXANK-Associated Bare Lymphocyte Syndrome
Essa Alharby, Mona Obaid, Mohammed A.O. Elamin, et al.

April 09, 2021
Clinical/Scientific Notes
Familial Lipomas Without Classic Neurofibromatosis-1 Caused by a Missense Germline NF1 Mutation
Erika Ramirez, Stephanie M. Morris, Tychele N. Turner, et al.

March 26, 2021
Clinical/Scientific Notes
Does SCA45 Cause Very Late-Onset Pure Cerebellar Ataxia?
Thiago Y. Tonholo Silva, Augusto B.R. Rosa, Caio R. Quaio, et al.

March 26, 2021
Clinical/Scientific Notes
Ataxia-Pancytopenia Syndrome due to a de Novo SAMD9L Mutation
Josh King-Robson, Joseph Marshall, Frances Smith, et al.

March 24, 2021
Article
Mild Phenotype of Wolfram Syndrome Associated With a Common Pathogenic Variant Is Predicted by a Structural Model of Wolframin
Adi Wilf-Yarkoni, Oded Shor, Avi Fellner, et al.

March 19, 2021
Article
Neurocognitive Features of Motor Premanifest Individuals With Myotonic Dystrophy Type 1
Ellen van der Plas, Timothy R. Koscik, Vincent Magnotta, et al.

March 18, 2021

Advancing EDI Awareness
New Post
The Tenure that Requires No Effort
Sara Din, MSc
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Advances in Neurologic Care*
New Post
Time for a new cost-effectiveness metric
By John P. Ney, MD, MPH| December 1, 2020
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Advances in Global Neurology
New Post
Can Global Health Diplomacy Reduce the Global Burden of Brain Disorders?
Gretchen L. Birbeck, MD, MPH | November 25, 2020
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