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

Research Article
Clinical Characteristics of Seizures and Epilepsy in Individuals With Recurrent Deletions and Duplications in the 16p11.2 Region
Christelle Moufawad El Achkar, Alyssa Rosen, Sudha Kilaru Kessler, et al.

August 08, 2022
Clinical/Scientific Note
A Second Case With the V374A KCND3 Pathogenic Variant in an Italian Patient With Early-Onset Spinocerebellar Ataxia
Flavia Palombo, Chiara La Morgia, Claudio Fiorini, et al.

August 08, 2022
Clinical/Scientific Note
Questioning the Association of the STMN2 Dinucleotide Repeat With Amyotrophic Lateral Sclerosis
Jay P. Ross, Fulya Akçimen, Calwing Liao, et al.

July 13, 2022
Clinical/Scientific Note
A Biallelic Variant in FRA10AC1 Is Associated With Neurodevelopmental Disorder and Growth Retardation
Norah Alsaleh, Amal Alhashem, Brahim Tabarki, et al.

July 08, 2022
Clinical/Scientific Note
Expanding the Phenotypic Spectrum of Vocal Cord and Pharyngeal Weakness With Distal Myopathy due to the p.S85C MATR3 Mutation
Arianna Manini, Daniele Velardo, Patrizia Ciscato, et al.

July 06, 2022
RESEARCH Article
FUS-P525L Juvenile Amyotrophic Lateral Sclerosis and Intellectual DisabilityEvidence for Association and Oligogenic Inheritance
Orly Goldstein, Talya Inbar, Merav Kedmi, et al.

July 06, 2022

Advancing IDEAS Awareness
New Post
Persevere
Greta Peng, MD| July 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
Micro-credentialing in Global Health for Neurology Trainees: Pros and Cons
Farrah J. Mateen, MD, PhD I August 1, 2022
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