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Author/Creator DeBrosse, Suzanne D.

1. A novel null mutation in the pyruvate dehydrogenase phosphatase catalytic subunit gene (PDP1) causing pyruvate dehydrogenase complex deficiency. Issue 1 (17th June 2019)

Authors:
Bedoyan, Jirair K.; Hecht, Leah; Zhang, Shulin; Tarrant, Stacey; Bergin, Ann; Demirbas, Didem; Yang, Edward; Shin, Ha Kyung; Grahame, George J.; DeBrosse, Suzanne D.; Hoppel, Charles L.; Kerr, Douglas S.; Berry, Gerard T.
Journal:
JIMD reports
Issue:
Volume 48:Issue 1(2019)
Page Start:
26
Record Type:
Journal Article
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2. Clinical and imaging characteristics of late onset mitochondrial membrane protein-associated neurodegeneration (MPAN). Issue 5 (2nd September 2016)

Authors:
Gore, Ethan; Appleby, Brian S.; Cohen, Mark L.; DeBrosse, Suzanne D.; Leverenz, James B.; Miller, Bruce L.; Siedlak, Sandra L.; Zhu, Xiongwei; Lerner, Alan J.
Journal:
Neurocase
Issue:
Volume 22:Issue 5(2016)
Page Start:
476
Record Type:
Journal Article
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3. GABBR2 mutations determine phenotype in rett syndrome and epileptic encephalopathy. Issue 3 (22nd September 2017)

Authors:
Yoo, Yongjin; Jung, Jane; Lee, Yoo‐Na; Lee, Youngha; Cho, Hyosuk; Na, Eunjung; Hong, JeaYeok; Kim, Eunjin; Lee, Jin Sook; Lee, Je Sang; Hong, Chansik; Park, Sang‐Yoon; Wie, Jinhong; Miller, Kathryn; Shur, Natasha; Clow, Cheryl; Ebel, Roseànne S.; DeBrosse, Suzanne D.; Henderson, Lindsay B.; Willa...
Journal:
Annals of neurology
Issue:
Volume 82:Issue 3(2017)
Page Start:
466
Record Type:
Journal Article
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5. Mutations in SCN3A cause early infantile epileptic encephalopathy. Issue 4 (30th March 2018)

Authors:
Zaman, Tariq; Helbig, Ingo; Božović, Ivana Babić; DeBrosse, Suzanne D.; Bergqvist, A. Christina; Wallis, Kimberly; Medne, Livija; Maver, Aleš; Peterlin, Borut; Helbig, Katherine L.; Zhang, Xiaohong; Goldberg, Ethan M.
Journal:
Annals of neurology
Issue:
Volume 83:Issue 4(2018)
Page Start:
703
Record Type:
Journal Article
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