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

RESEARCH ARTICLE | Inherited Neurologic Disorders

Clinical-Genetic Features Influencing Disability in Spastic Paraplegia Type 4

RESEARCH ARTICLE | Leukodystrophies

Cross-sectional Observations on the Natural History of Mucolipidosis Type IV

RESEARCH ARTICLE | Cognitive Disorders/Dementia

Clinical Deep Phenotyping of ABCA7 Mutation Carriers

RESEARCH ARTICLE | Motor Neuron Disease

ALS in Finland: Major Genetic Variants and Clinical Characteristics of Patients With and Without C9orf72 Expansion

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Latest Articles

Clinical/Scientific Note
Neurofibromatosis-1 Gene Mutational Profiles Differ Between Syndromic Disease and Sporadic Cancers
Alice F. Bewley, Titilope M. Akinwe, Tychele N. Turner, et al.

June 27, 2022
Research Article
Genome Sequencing in the Parkinson Disease Clinic
Emily J. Hill, Laurie A. Robak, Rami Al-Ouran, et al.

June 20, 2022
Clinical/Scientific Note
Vanishing White Matter Disease Presenting as Dementia and InfertilityA Case Report
Jasmine Parihar, Deepti Vibha, Roopa Rajan, et al.

May 31, 2022
Clinical/Scientific Note
On Spinocerebellar Ataxia 21 as a Mimicker of Cerebral Palsy
Johanna van der Put, Dalia Daugeliene, Åsa Bergendal, et al.

May 31, 2022
Research Article
Epilepsy Course and Developmental Trajectories in STXBP1-DEE
Ganna Balagura, Julie Xian, Antonella Riva, et al.

May 31, 2022
Review
Integrating Genetic Structural Variations and Whole-Genome Sequencing Into Clinical Neurology
Xin Lin, Yuanhao Yang, Phillip E. Melton, et al.

May 27, 2022

Advancing IDEAS Awareness
New Post
Group Blog From the Gender Equity Working Group: How the LGBTQI Section of the American Academy of Neurology Plans to Help the Transgender Patient Feel Less Like a Fascinoma
Z Paige Lerario, MD, NYS, CRPA/CPS-p, Gwen Zeigler, DO, Em Harrington, MD, PhD, and Founding Member, MD, JD| June 21, 2022
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Advances in Neurologic Care*
New Post
Aducanumab: Making Sense of the Cents
By Gregory S. Day, MD, MSc, MSCI, FAAN| April 7, 2022
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Advances in Global Neurology
New Post
Passing the “global neurology” torch…but what is global neurology?
Gretchen L. Birbeck, MD, MPH I July 1, 2022
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