SuzanneDeniseDebrosseMD

PubMed

• 2 citations
  Kleefstra syndrome: Impact on parents.
  Alexandria Haseley, Kimberly Wallis, Suzanne D. DeBrosse> ;Disability and Health Journal. 2021 Apr 1
• 7 citations
  Generalized Dystonia as a Prominent Feature in a Case of NUS1 Gene Mutation.
  Steven A Gunzler, Suzanne D. DeBrosse> ;The Canadian Journal of Neurological Sciences. Le Journal Canadien Des Sciences Neurologiques. 2021 May 1
• 8 citations
  Utility of specific amino acid ratios in screening for pyruvate dehydrogenase complex deficiencies and other mitochondrial disorders associated with congenital lactic ...
  Jirair K. Bedoyan, Rosemary Hage, Ha Kyung Shin, Sharon Linard, Edwin Ferren, Kirkland Wilson, April Lehman, Lori-Anne Schillaci, Kandamurugu Manickam, Mari Mori, Denn...> ;JIMD Reports. 2020 Aug 16
• 8 citations
  A novel null mutation in the pyruvate dehydrogenase phosphatase catalytic subunit gene ( PDP1 ) causing pyruvate dehydrogenase complex deficiency.
  Jirair K. Bedoyan, Leah Hecht, Shulin Zhang, Stacey Tarrant, Ann M. Bergin, Didem Demirbas, Edward Yang, Ha Kyung Shin, George Grahame, Suzanne D. DeBrosse, Charles L....> ;JIMD Reports. 2019 Jun 17
• 25 citations
  The expanding phenotype of OFD1-related disorders: Hemizygous loss-of-function variants in three patients with primary ciliary dyskinesia.
  William B. Hannah, Suzanne D. DeBrosse, BreAnna Kinghorn, Steven Strausbaugh, Moira L. Aitken, Margaret Rosenfeld, Whitney E. Wolf, Michael R. Knowles, Maimoona A. Zar...> ;Molecular Genetics & Genomic Medicine. 2019 Aug 1
• 61 citations
  Mutations in SCN3A cause early infantile epileptic encephalopathy.
  Tariq Zaman, Ingo Helbig, Ivana Babić Božović, Suzanne D. DeBrosse, A. G. Christina Bergqvist, Kimberly Wallis, Livija Medne, Aleš Maver, Borut Peterlin, Katherine L. ...> ;Annals of Neurology. 2018 Apr 1
• 14 citations
  Inborn Errors of Metabolism with Acidosis: Organic Acidemias and Defects of Pyruvate and Ketone Body Metabolism.
  Lori Anne P. Schillaci, Suzanne D. DeBrosse, Shawn E. McCandless> ;Pediatric Clinics of North America. 2017 Dec 28
• 36 citations
  De novo, deleterious sequence variants that alter the transcriptional activity of the homeoprotein PBX1 are associated with intellectual disability and pleiotropic dev...
  Anne Slavotinek, Maurizio Risolino, Marta Losa, Megan T. Cho, Kristin G. Monaghan, Dina Schneidman-Duhovny, Sarah Parisotto, Johanna C. Herkert, Alexander P.A. Stegman...> ;Human Molecular Genetics. 2017 Dec 15
• 52 citations
  GABBR2 mutations determine phenotype in rett syndrome and epileptic encephalopathy
  Yongjin Yoo, Jane Jung, Yoo Na Lee, Youngha Lee, Hyosuk Cho, Eunjung Na, Jea Yeok Hong, Eun Jin Kim, Jin Sook Lee, Je Sang Lee, Chansik Hong, Sang-Yoon Park, Jinhong W...> ;Annals of Neurology. 2017 Sep 1
• 47 citations
  Fever-Induced Paroxysmal Weakness and Encephalopathy, a New Phenotype of ATP1A3 Mutation.
  Sho T. Yano, Kenneth Silver, Richard Young, Suzanne D. DeBrosse, Roseànne S. Ebel, Kathryn J. Swoboda, Gyula Acsadi> ;Pediatric Neurology. 2017 Aug 1
• 45 citations
  Research conference summary from the 2014 International Task Force on ATP1A3-Related Disorders
  Hendrik Rosewich, Matthew T. Sweney, Suzanne D. DeBrosse, Kevin C. Ess, Laurie J. Ozelius, Eva Andermann, Frederick Andermann, Gene Andrasco, Alice Belgrade, Allison B...> ;Neurology. Genetics. 2017 Apr 1
• 21 citations
  Succinyl-CoA synthetase (SUCLA2) deficiency in two siblings with impaired activity of other mitochondrial oxidative enzymes in skeletal muscle without mitochondrial DN...
  Xiaoping Huang, Jirair K. Bedoyan, Didem Demirbas, David J. Harris, Alexander Miron, Simone Edelheit, George Grahame, Suzanne D. DeBrosse, Lee-Jun C. Wong, Charles L. ...> ;Molecular Genetics and Metabolism. 2017 Mar 1
• 30 citations
  Lethal Neonatal Case and Review of Primary Short-Chain enoyl-CoA Hydratase (SCEH) Deficiency Associated With Secondary Lymphocyte Pyruvate Dehydrogenase Complex (PDC) ...
  Jirair K. Bedoyan, Samuel P. Yang, Sacha Ferdinandusse, Rhona Jack, Alexander Miron, George Grahame, Suzanne D. DeBrosse, Charles L. Hoppel, Douglas S. Kerr, Ronald J....> ;Molecular Genetics and Metabolism. 2017 Apr 1
• 14 citations
  Clinical and imaging characteristics of late onset mitochondrial membrane protein-associated neurodegeneration (MPAN)
  Ethan Gore, Brian S. Appleby, Mark L. Cohen, Suzanne D. DeBrosse, James B. Leverenz, Bruce L. Miller, Sandra L. Siedlak, Xiongwei Zhu, Alan J. Lerner> ;Neurocase. 2016 Nov 1
• 36 citations
  Arginine:glycine amidinotransferase (AGAT) deficiency: Clinical features and long term outcomes in 16 patients diagnosed worldwide
  Sylvia Stockler-Ipsiroglu, Delia Apatean, Roberta Battini, Suzanne D. DeBrosse, Kimberley Dessoffy, Simon Edvardson, Florian Eichler, Katherine Johnston, David M. Koel...> ;Molecular Genetics and Metabolism. 2015 Dec 1
• 8 citations
  Erratum: Alternating Hemiplegia of Childhood: Retrospective Genetic Study and Genotype-Phenotype Correlations in 187 Subjects from the US AHCF Registry (PLoS ONE (2015...
  Louis Viollet, Gustavo Glusman, Kelley J. Murphy, Tara M. Newcomb, Sandra P. Reyna, Matthew T. Sweney, Benjamin W. Nelson, Frederick Andermann, Eva Andermann, Gyula Ac...> ;Plos One. 2015 Aug 31
• 13 citations
  Alternating Hemiplegia of Childhood: Retrospective Genetic Study and Genotype-Phenotype Correlations in 187 Subjects from the US AHCF Registry.
  Louis Viollet, Gustavo Glusman, Kelley J Murphy, Tara M Newcomb, Sandra P Reyna, Matthew Sweney, Benjamin Nelson, Frederick Andermann, Eva Andermann, Gyula Acsadi, Ric...> ;Plos One. 2015 Jan 1
• 30 citations
  Practice patterns of mitochondrial disease physicians in North America. Part 1: Diagnostic and clinical challenges
  Sumit Parikh, Amy Goldstein, Mary Kay Koenig, Fernando Scaglia, Gregory M. Enns, Russell P. Saneto, Irina Anselm, Abigail Collins, Bruce H. Cohen, Suzanne D. DeBrosse,...> ;Mitochondrion. 2014 Jan 1
• 10 citations
  Neurologic disorders due to mitochondrial DNA mutations
  Suzanne D. DeBrosse, Sumit Parikh> ;Seminars in Pediatric Neurology. 2012 Dec 1
• 72 citations
  Spectrum of neurological and survival outcomes in pyruvate dehydrogenase complex (PDC) deficiency: Lack of correlation with genotype
  Suzanne D. DeBrosse, Kazuki Okajima, Shulin Na Zhang, Ghunwa Nakouzi, Christine L. Schmotzer, Marilyn Lusk-Kopp, Mary Beth Frohnapfel, George Grahame, Douglas S. Kerr> ;Molecular Genetics and Metabolism. 2012 Nov 1
• 3 citations
  Dynamic properties of eye movements in mitochondrial chronic progressive external ophthalmoplegia.
  S. DeBrosse, Eroboghene E. Ubogu, Stacy S. Yaniglos, M. O. Hassan, Richard Leigh> ;Eye. 2009 Feb 1
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