Rose‐Mary Boustany

Isolation of a novel gene underlying batten disease, CLN3

Terry J. Lerner, Rose‐Mary Boustany, John W. Anderson et al. · Cell · 1995 · 598 citations · Full text

Batten Disease, Genetic Disorder, Genetics +5

Functional genome-wide siRNA screen identifies KIAA0586 as mutated in Joubert syndrome

Susanne Roosing, Matan Hofree, Sehyun Kim et al. · eLife · 2015 · 120 citations · Full text

Mitochondrial cytochrome deficiency presenting as a myopathy with hypotonia, external ophthalmoplegia, and lactic acidosis in an infant and as fatal hepatopathy in a second cousin

Rose‐Mary Boustany, June R. Aprille, John Halperin et al. · Annals of Neurology · 1983 · 113 citations

Apoptosis as the Mechanism of Neurodegeneration in Batten's Disease

Steven C. Lane, R.D. Jolly, Donald E. Schmechel et al. · Journal of Neurochemistry · 1996 · 106 citations

CLN3 Defines a Novel Antiapoptotic Pathway Operative in Neurodegeneration and Mediated by Ceramide

Kasturi L. Puranam, Wei‐Xing Guo, Kave Nikbakht et al. · Molecular Genetics and Metabolism · 1999 · 103 citations

Neurodegenerative Diseases, Neuroregeneration, Cell Death +8