Assessing Long‐Term Neurologic Outcomes in SAMD9L‐Related Ataxia‐Pancytopenia Syndrome - Zingariello, Carla D.; Chen, Dong‐Hui; Raskind, Wendy H.; Slayton, William B.; Subramony, Sub; Severance, Joyce; Feagle, Megan; Rasmussen, Sonja A. (Movement disorders clinical practice (Hoboken, N.J.), 2024)
Keywords: Adolescent; Adult; ataxia; Ataxia - diagnosis; Ataxia - genetics; Ataxia - physiopathology; ataxia‐pancytopenia syndrome; ATXPC; Case Series; Child; Child, Preschool; Disease Progression; Female; Humans; Intracellular Signaling Peptides and Proteins - genetics; Male; Middle Aged; SAMD9L; Tumor Suppressor Proteins; Young Adult; ataxia‐pancytopenia syndrome; SAMD9L; ATXPC; ataxia