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Chaar WA, Eranki AN, Stevens HA, Watson SL, Wong DY, Avila VS, Delfeld M, Gary AJ, Tawde S, Triebold M, Cherchi M, Xie T, Lockhart PJ, Bahlo M, Pellerin D, Dicaire M, Danzi M, Zuchner S, Brais BC, Perlman S, Burmeister M, Paulson H, Srinivasan S, Schut L, Bower M, Bushara K, Liao C, Shakkottai VG, Collins J, Clark HB, Das S, Fogel BL, Gomez CM. Clinical, Radiological and Pathological Features of a Large American Cohort of Spinocerebellar Ataxia (SCA27B). Annals of Neurology. 2024;96(6):10.1002/ana.27060
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Oliver KL, Scheffer IE, Ellis CA, Grinton BE, Consortium E, Afawi Z, Amrom D, Andermann E, Bautista JF, Bellows ST, Bluvstein J, Cascino GD, Chung S-K, Cossette P, Curtis SW, Delanty N, Devinsky O, Dlugos D, Epstein MP, Freyer C, Gravel M, Harris RV, Heinzen EL, Henry OJ, Kirsch HE, Knowlton RC, Kossoff EH, Loeb R, Lowenstein DH, Marson AG, Mefford HC, Motika PV, O’Brien TJ, Ottman R, Paolicchi JM, Petrovski S, Pickrell WO, Rees MI, Sadleir LG, Shih JJ, Singh RK, Smith MC, Smith PEM, Thomas RH, Weisenberg J, Widdess-Walsh P, Winawer MR, Berkovic SF, Bahlo M. Investigating the effect of polygenic background on epilepsy phenotype in ‘monogenic’ families. EBioMedicine. 2024;109:10.1016/j.ebiom.2024.105404
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Hildebrand MS, Braden RO, Lauretta ML, Kaspi A, Leventer RJ, Anderson M, Goel H, Bahlo M, Scheffer IE, Amor DJ, Janowski R, Niessing D, Morgan AT. Inherited PURA Pathogenic Variant Associated With a Mild Neurodevelopmental Disorder. Neurology Genetics. 2024;10(5):10.1212/nxg.0000000000200181
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