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Characteristics of a Cohort of Individuals With SCA27B Associated With Repeat Expansions in FGF14.
Autor/s:
Anderson SC, Patel SG, Rodrigues M, Mancuso-Marcello M, Simpson M.
Clinical/Scientific Notes
Any publicació:
2026
Número de revista:
Neurology® Genetics. vol. 12 n. 5
https://www.neurology.org/doi/full/10.1212/NXG.0000000000200424
Early Severe Moyamoya Disease Due to a Monoallelic RNF213 Variant in Monozygotic Twins.
Autor/s:
Belfer SJ, Vij R, Beslow LA, Press C, Shukla DP, DiDomenico L, Vossough A, Caligiuri L; Allison Hyland; Chen SL, Kundishora AJ.
Clinical/Scientific Notes
Any publicació:
2026
Número de revista:
Neurology® Genetics. vol. 12 n. 5
https://www.neurology.org/doi/full/10.1212/NXG.0000000000200434
ATXN2 Spectrum Disorders: Genetic Complexity Beyond Dominant Inheritance.
Autor/s:
Laffita-Mesa JM, Paucar M, Svenningsson P.
Commentary
Any publicació:
2026
Número de revista:
Neurology® Genetics. vol. 12 n. 5
https://www.neurology.org/doi/full/10.1212/NXG.0000000000200428