Latest Articles
- Research ArticleA Remote Longitudinal Observational Study of Individuals at Genetic Risk for Parkinson DiseaseBaseline ResultsStella Jensen-Roberts, Taylor L. Myers, Peggy Auinger, et al.August 11, 2022
- Research ArticleClinical Characteristics of Seizures and Epilepsy in Individuals With Recurrent Deletions and Duplications in the 16p11.2 RegionChristelle Moufawad El Achkar, Alyssa Rosen, Sudha Kilaru Kessler, et al.August 08, 2022
- Clinical/Scientific NoteA Second Case With the V374A KCND3 Pathogenic Variant in an Italian Patient With Early-Onset Spinocerebellar AtaxiaFlavia Palombo, Chiara La Morgia, Claudio Fiorini, et al.August 08, 2022
- Clinical/Scientific NoteQuestioning the Association of the STMN2 Dinucleotide Repeat With Amyotrophic Lateral SclerosisJay P. Ross, Fulya Akçimen, Calwing Liao, et al.July 13, 2022
- Clinical/Scientific NoteA Biallelic Variant in FRA10AC1 Is Associated With Neurodevelopmental Disorder and Growth RetardationNorah Alsaleh, Amal Alhashem, Brahim Tabarki, et al.July 08, 2022
- Clinical/Scientific NoteExpanding the Phenotypic Spectrum of Vocal Cord and Pharyngeal Weakness With Distal Myopathy due to the p.S85C MATR3 MutationArianna Manini, Daniele Velardo, Patrizia Ciscato, et al.July 06, 2022
- RESEARCH ArticleFUS-P525L Juvenile Amyotrophic Lateral Sclerosis and Intellectual DisabilityEvidence for Association and Oligogenic InheritanceOrly Goldstein, Talya Inbar, Merav Kedmi, et al.July 06, 2022
- Clinical/Scientific NoteNovel TOP3A Variant Associated With Mitochondrial DiseaseExpanding the Clinical Spectrum of Topoisomerase III Alpha–Related DiseasesGuido Primiano, Alessandra Torraco, Daniela Verrigni, et al.July 06, 2022
- Clinical/Scientific NoteNeurofibromatosis-1 Gene Mutational Profiles Differ Between Syndromic Disease and Sporadic CancersAlice F. Bewley, Titilope M. Akinwe, Tychele N. Turner, et al.June 27, 2022
- Research ArticleGenome Sequencing in the Parkinson Disease ClinicEmily J. Hill, Laurie A. Robak, Rami Al-Ouran, et al.June 20, 2022
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Dr. Jeffrey Allen and Dr. Nicholas Purcell