Clinical/Scientific Notes

• Open Access

  Questioning the Association of the STMN2 Dinucleotide Repeat With Amyotrophic Lateral Sclerosis

  Jay P. Ross, Fulya Akçimen, Calwing Liao, Dan Spiegelman, Ben Weisburd, Nicolas Dupré, Patrick A. Dion, Guy A. Rouleau, Sali M.K. Farhan

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  Familial Brain Calcifications With LeukoencephalopathyA Novel PDGFB Variant

  Jack Shen, Amelle Shillington, Alberto J. Espay, Emily J. Hill

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• Open Access

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

  Alice F. Bewley, Titilope M. Akinwe, Tychele N. Turner, David H. Gutmann

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  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, Claudia Cinnante, Maurizio Moggio, Giacomo Comi, Stefania Corti, Dario Ronchi

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  Novel TOP3A Variant Associated With Mitochondrial DiseaseExpanding the Clinical Spectrum of Topoisomerase III Alpha–Related Diseases

  Guido Primiano, Alessandra Torraco, Daniela Verrigni, Andrea Sabino, Enrico Bertini, Rosalba Carrozzo, Gabriella Silvestri, Serenella Servidei

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  A Biallelic Variant in FRA10AC1 Is Associated With Neurodevelopmental Disorder and Growth Retardation

  Norah Alsaleh, Amal Alhashem, Brahim Tabarki, Sarar Mohamed, Essa Alharby, Fowzan S. Alkuraya, Naif A.M. Almontashiri

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