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

REVIEW | Clinical Neurology

Integrating Genetic Structural Variations and Whole-Genome Sequencing Into Clinical Neurology

RESEARCH ARTICLE | Parkinsonism

Genome Sequencing in the Parkinson Disease Clinic

RESEARCH ARTICLE | Amyotrophic Lateral Sclerosis

FUS-P525L Juvenile Amyotrophic Lateral Sclerosis and Intellectual Disability: Evidence for Association & Oligogenic Inheritance

CLINICAL/SCIENTIFIC NOTE | Oncology

Neurofibromatosis-1 Gene Mutational Profiles Differ Between Syndromic Disease and Sporadic Cancers

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Latest Articles

Clinical/Scientific Note
Neurodevelopmental Disorder, Obesity, Pancytopenia, Diabetes Mellitus, Cirrhosis, and Renal Failure in ACBD6-Associated SyndromeA Case Report
Patra Yeetong, Natthaporn Tanpowpong, Supphakorn Rakwongkhachon, et al.

November 29, 2022
Research Article
Somatic Variants in SVIL in Cerebral Aneurysms
Pui Man Rosalind Lai, Jee-Yeon Ryu, Sang-Cheol Park, et al.

November 28, 2022
Clinical/Scientific Note
Blended Phenotype of Prader-Willi Syndrome and HSP-SPG11 Caused by Maternal Uniparental Isodisomy
Avaneesh R. Kunta, Jeremy Jueng, Catherine Jordan, et al.

November 23, 2022
Research Article
Startle DiseaseAn Overlooked Symptom of CTNNB1-Related Neurodevelopmental Disorder With Spastic Diplegia and Visual Defects
Vincent Bulot, Francis Ramond, François Mauguière, et al.

November 21, 2022
Research Article
Diagnostic Efficacy of Genetic Studies in a Series of Hereditary Cerebellar Ataxias in Eastern Spain
Raquel Baviera-Muñoz, Lidón Carretero-Vilarroig, Juan Francisco Vázquez-Costa, et al.

November 14, 2022
NeuroImage
Complete Agenesis of Corpus Callosum in KCNQ2-Related Neonatal Epileptic Encephalopathy
Laura Licchetta, Raffaella Minardi, Lorenzo Muccioli, et al.

November 07, 2022

Advancing IDEAS Awareness
New Post
Navigating the Labyrinth of Medicine and My Gender
Em Harrington, MD, PhD | November 22, 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
Evolution of a Global Health Track and Educational Collaboration
Anindita Deb, MD, FAAN and Soaham Desai, MD, DM I November 28, 2022
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Reviewer Achievement Awards

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