ZarazuelaZolkipli CunninghamMD

PubMed

• 12 citations
  Understanding the phenotypic spectrum of ASXL-related disease: Ten cases and a review of the literature.
  Vishnu Anand Cuddapah, Holly Dubbs, Laura Adang, Steven L Kugler, Elizabeth M. McCormick, Zarazuela Zolkipli-Cunningham, Xilma R. Ortiz-Gonzalez, Shana E. McCormack, E...> ;American Journal of Medical Genetics. Part A. 2021 Mar 10
• 30 citations
  Nusinersen Treatment in Adults With Spinal Muscular Atrophy.
  Tina Duong, Connie Wolford, Michael P. McDermott, Chelsea Macpherson, Amy Pasternak, Allan M. Glanzman, William B. Martens, Elizabeth Kichula, Basil T. Darras, Darryl ...> ;Neurology. Clinical Practice. 2021 Jan 18
• 12 citations
  An ancestral 10-bp repeat expansion in VWA1 causes recessive hereditary motor neuropathy.
  Alistair T. Pagnamenta, Kaiyrzhanov R, Yaqun Zou, Sahar I. Da'as, Reza Maroofian, Sandra Donkervoort, Natalia Dominik, Lauffer M, Matteo P. Ferla, Orioli A, Adam Giess...> ;Brain. 2021 Mar 3
• 1 citations
  Reply to "Pediatric Leigh Syndrome: Neuroimaging Features and Genetic Correlations"
  César Augusto Pinheiro Ferreira Alves, Sara Reis Teixeira, Juan Sebastian Martin-Saavedra, Fabrício Guimarães Gonçalves, Francesco Lo Russo, Colleen Muraresku, Elizabe...> ;Annals of Neurology. 2021 Mar 1
• 4 citations
  Involvement of the spinal cord in primary mitochondrial disorders: a neuroimaging mimicker of inflammation and ischemia in children
  César Augusto Pinheiro Ferreira Alves, Amy Goldstein, Sara Reis Teixeira, Juan Sebastian Martin-Saavedra, I.P. de Barcelos, G. Fadda, Luca Caschera, Martin Kidd, Fabrí...> ;AJNR. American Journal of Neuroradiology. 2021 Feb 1
• 38 citations
  Pediatric Leigh Syndrome: Neuroimaging Features and Genetic Correlations.
  César Augusto Pinheiro Ferreira Alves, Sara Reis Teixeira, Juan Sebastian Martin-Saavedra, Fabrício Guimarães Gonçalves, Francesco Lo Russo, Colleen Muraresku, Elizabe...> ;Annals of Neurology. 2020 Aug 1
• 3 citations
  The Perirolandic Sign: A Unique Imaging Finding Observed in Association with Polymerase γ-Related Disorders.
  Fabrício Guimarães Gonçalves, Bradford G. Hill, Y. Guo, Colleen Muraresku, Elizabeth M. McCormick, César Augusto Pinheiro Ferreira Alves, Sara Reis Teixeira, Juan Seba...> ;AJNR. American Journal of Neuroradiology. 2020 May 7
• 26 citations
  Mitochondrial diseases in North America: An analysis of the NAMDC Registry.
  Emanuele Barca, Yuelin Long, Victoria Cooley, Robert Schoenaker, Valentina Emmanuele, Salvatore DiMauro, Bruce H. Cohen, Amel Karaa, Georgirene D. Vladutiu, Richard Ha...> ;Neurology. Genetics. 2020 Mar 2
• 25 citations
  Safety and efficacy of omaveloxolone in patients with mitochondrial myopathy (MOTOR trial).
  Karen Lindhardt Madsen, Astrid Emilie Buch, Bruce H. Cohen, Marni J. Falk, Angela Goldsberry, Amy Goldstein, Amel Karaa, Mary Kay Koenig, Colleen C. Muraresku, Colin M...> ;Neurology. 2020 Jan 2
• 15 citations
  Fatigue in Primary Genetic Mitochondrial Disease: No Rest for the Weary
  Sumit Parikh, Rachel Galioto, Brittany Lapin, Richard H. Haas, Michio Hirano, Mary Kay Koenig, Russell P. Saneto, Zarazuela Zolkipli-Cunningham, Amy Goldstein, Amel Karaa> ;Neuromuscular Disorders. 2019 Nov 1
• 58 citations
  MT-ATP6 mitochondrial disease variants: Phenotypic and biochemical features analysis in 218 published cases and cohort of 14 new cases.
  Rebecca D. Ganetzky, Claudia Stendel, Elizabeth M. McCormick, Zarazuela Zolkipli-Cunningham, Amy Goldstein, Thomas Klopstock, Marni J. Falk> ;Human Mutation. 2019 May 1
• 35 citations
  Mitochondrial Disease Genetics Update Recent insights into the Molecular Diagnosis and Expanding Phenotype of Primary Mitochondrial Disease
  Elizabeth M. McCormick, Zarazuela Zolkipli-Cunningham, Marni J. Falk> ;Current Opinion in Pediatrics. 2018 Dec 1
• 45 citations
  Mitochondrial disease patient motivations and barriers to participate in clinical trials.
  Zarazuela Zolkipli-Cunningham, Rui Xiao, Amy Stoddart, Elizabeth M. McCormick, Amy Holberts, Natalie Burrill, Shana E. McCormack, Lauren Williams, Xiaoyan Wang, John L...> ;Plos One. 2018 May 17
• 20 citations
  Erratum: Biallelic Mutations in MRPS34 Lead to Instability of the Small Mitoribosomal Subunit and Leigh Syndrome (The American Journal of Human Genetics (2017) 101(2) ...
  Nicole J. Lake, Bryn D. Webb, David A. Stroud, Tara R. Richman, Benedetta Ruzzenente, Alison G. Compton, Hayley S. Mountford, Juliette Pulman, Coralie Zangarelli, Marl...> ;American Journal of Human Genetics. 2018 Apr 5
• 17 citations
  Nutritional Interventions for Mitochondrial OXPHOS Deficiencies: Mechanisms and Model Systems.
  Adam J. Kuszak, Michael Graham Espey, Marni J. Falk, Marissa A. Holmbeck, Giovanni Manfredi, Gerald S. Shadel, Hilary J. Vernon, Zarazuela Zolkipli-Cunningham> ;Annual Review of Pathology. 2018 Jan 24
• 33 citations
  Evaluator Training and Reliability for SMA Global Nusinersen Trials1.
  Allan M. Glanzman, Elena S. Mazzone, Sally Dunaway Young, Richard Gee, Kristy Rose, Anna Mayhew, Leslie Nelson, Chris Yun, Katie Alexander, Basil T. Darras, Zarazuela ...> ;Journal of Neuromuscular Diseases. 2018 Jan 1
• 34 citations
  Clinical effects of chemical exposures on mitochondrial function.
  Zarazuela Zolkipli-Cunningham, Marni J. Falk> ;Toxicology. 2017 Nov 1
• 1 citations
  Response to Newman et al.
  Sumit Parikh, Amy Goldstein, Amel Karaa, Mary Kay Koenig, Irina Anselm, Catherine Brunel-Guitton, John Christodoulou, Bruce H. Cohen, David Dimmock, Gregory M. Enns, M...> ;Genetics in Medicine. 2017 Oct 26
• 25 citations
  Biallelic Mutations in MRPS34 Lead to Instability of the Small Mitoribosomal Subunit and Leigh Syndrome.
  Nicole J Lake, Bryn D Webb, David A Stroud, Tara R Richman, Benedetta Ruzzenente, Alison G Compton, Hayley S Mountford, Juliette Pulman, Coralie Zangarelli, Marlene Ri...> ;American Journal of Human Genetics. 2017 Aug 3
• 177 citations
  Patient care standards for primary mitochondrial disease: a consensus statement from the Mitochondrial Medicine Society
  Sumit Parikh, Amy Goldstein, Amel Karaa, Mary Kay Koenig, Irina Anselm, Catherine Brunel-Guitton, John Christodoulou, Bruce H. Cohen, David Dimmock, Gregory M. Enns, M...> ;Genetics in Medicine. 2017 Jul 27
• 15 citations
  Hospitalizations for mitochondrial disease across the lifespan in the U.S.
  Shana E. McCormack, Rui Xiao, Todd J. Kilbaugh, Michael Karlsson, Rebecca D. Ganetzky, Zarazuela Zolkipli Cunningham, Amy Goldstein, Marni J. Falk, Scott M. Damrauer> ;Molecular Genetics and Metabolism. 2017 Jun 1
• 36 citations
  MSeqDR: A Centralized Knowledge Repository and Bioinformatics Web Resource to Facilitate Genomic Investigations in Mitochondrial Disease
  Lishuang Shen, Maria Angela Diroma, Michael A. Gonzalez, Daniel Navarro-Gomez, Jeremy Leipzig, Marie T. Lott, Mannis van Oven, Douglas C. Wallace, Colleen Muraresku, Z...> ;Human Mutation. 2016 Jun 1
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