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

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Notable This Week

February 2021; 7(1) Selected by Stefan M. Pulst, MD, Dr med, Editor

CLINICAL NOTE |Amyotrophic Lateral Sclerosis

Possible Somatic Mosaicism of Novel FUS Variant in Familial Amyotrophic Lateral Sclerosis

ARTICLE |Amyotrophic Lateral Sclerosis

Does Somatic Mosaicism Account for Some Sporadic ALS?

ARTICLE |CEDNIK Syndrome

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

ARTICLE |Ataxia

V374A KCND3 Pathogenic Variant Associated With Paroxysmal Ataxia Exacerbations

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Latest Articles

Clinical/Scientific Notes
NR4A2 Mutations Can Cause Intellectual Disability and Language Impairment With Persistent Dystonia-Parkinsonism
Silvia Jesús, Isabel Hinarejos, Fátima Carrillo, et al.

January 21, 2021
Article
MAP3K6 Mutations in a Neurovascular Disease Causing Stroke, Cognitive Impairment, and Tremor
Andreea Ilinca, Elisabet Englund, Sofie Samuelsson, et al.

January 21, 2021
Article
Biallelic DAB1 Variants Are Associated With Mild Lissencephaly and Cerebellar Hypoplasia
Daphne J. Smits, Rachel Schot, Martina Wilke, et al.

January 21, 2021
Clinical/Scientific Notes
Possible Somatic Mosaicism of Novel FUS Variant in Familial Amyotrophic Lateral Sclerosis
Shin Hisahara, Ayumi Nishiyama, Emiko Tsuda, et al.

January 12, 2021
Article
New Cohort of Patients With CEDNIK Syndrome Expands the Phenotypic and Genotypic Spectra
Annelise Y. Mah-Som, Cristina Skrypnyk, Andrea Guerin, et al.

January 12, 2021
Editorial
Does Somatic Mosaicism Account for Some Sporadic ALS?
Éanna B. Ryan, Han-Xiang Deng

January 12, 2021

Advancing EDI Awareness
New Post
Border Reflections: Medicine and the Wounds of Community
Ramón Villaverde-Castañeda, MD Candidate, 2023
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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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