Latest Articles

Subject

Research Article
A Remote Longitudinal Observational Study of Individuals at Genetic Risk for Parkinson DiseaseBaseline Results
Stella Jensen-Roberts, Taylor L. Myers, Peggy Auinger, et al.

August 11, 2022
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
Clinical/Scientific Note
Novel TOP3A Variant Associated With Mitochondrial DiseaseExpanding the Clinical Spectrum of Topoisomerase III Alpha–Related Diseases
Guido Primiano, Alessandra Torraco, Daniela Verrigni, et al.

July 06, 2022
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

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