GAA-<i>FGF14</i> ataxia (SCA27B): phenotypic profile, natural history progression and 4-aminopyridine treatment responseCarlo Wilke, Matthis Synofzik, Benjamin Bender et al.|Brain|2023Cited by 114
Frequency of GAA- <i>FGF14</i> Ataxia in a Large Cohort of Brazilian Patients With Unsolved Adult-Onset Cerebellar AtaxiaLuiz Eduardo Novis, Hélio Afonso Ghizoni Teive, Rodrigo Siqueira Soares Frezatti et al.|Neurology Genetics|2023Cited by 36
Biallelic Loss‐of‐Function <scp><i>NDUFA12</i></scp> Variants Cause a Wide Phenotypic Spectrum from Leigh/Leigh‐Like Syndrome to Isolated Optic AtrophyFrancesca Magrinelli, Reza Maroofian, Elisa Calì et al.|Movement Disorders Clinical Practice|2021Cited by 18
Unravelling the Global Tapestry of Genetic Ataxias: Epidemiology and Genetic Testing ApproachesMalco Rossi, Bart P.C. van de Warrenburg, Christopher D. Stephen et al.|Movement Disorders|2025Cited by 5