AmyCGoldsteinMD

PubMed

• Pearls & Oy-sters: Case Report of a Patient With Adult-Onset Thymidine Kinase 2 Gene Deficiency.
  Jennifer Morganroth, Lovisa Ljungberg, Amy Goldstein, Staci Kallish, Stephanie B Asher, Colin Quinn, Raymond S Price, Chafic Karam> ;Neurology. 2023 Oct 17
• 1 citations
  Optimized Nutrition in Mitochondrial Disease Correlates to Improved Muscle Fatigue, Strength, and Quality of Life.
  Donna DiVito, Amanda Wellik, Jessica Burfield, James Peterson, Jean Flickinger, Alyssa Tindall, Kimberly Albanowski, Shailee Vishnubhatt, Laura MacMullen, Isaac Martin...> ;Neurotherapeutics. 2023 Oct 1
• 26 citations
  BTK inhibition limits B-cell-T-cell interaction through modulation of B-cell metabolism: implications for multiple sclerosis therapy.
  Rui Li, Hao Tang, Jeremy C Burns, Brian T Hopkins, Carole Le Coz, Bo Zhang, Isabella Peixoto de Barcelos, Neil Romberg, Amy C Goldstein, Brenda L Banwell, Eline T Luni...> ;Acta Neuropathologica. 2022 Apr 1
• 1 citations
  Erratum to: Biallelic variants in HPDL cause pure and complicated hereditary spastic paraplegia.
  Manuela Wiessner, Reza Maroofian, Meng-Yuan Ni, Andrea Pedroni, Juliane Müller, Rolf Stucka, Christian Beetz, Stephanie Efthymiou, Filippo M. Santorelli, Ahmed Alfares...> ;Brain. 2021 Sep 4
• Nutrition rehabilitation-related complications in primary mitochondrial disorders.
  Tamir Diamond, Donna DiVito, Melanie Savoca, Maria R. Mascarenhas, Amy Goldstein> ;Nutrition in Clinical Practice. 2021 Jul 16
• 21 citations
  Biallelic variants in HPDL cause pure and complicated hereditary spastic paraplegia
  Manuela Wiessner, Reza Maroofian, Meng-Yuan Ni, Andrea Pedroni, Juliane S Müller, Rolf Stucka, Christian Beetz, Stephanie Efthymiou, Filippo M. Santorelli, Ahmed Alfar...> ;Brain. 2021 Jun 22
• Genetic and Clinical Predictors of Ataxia in Pediatric Primary Mitochondrial Disorders.
  Juan Sebastian Martin-Saavedra, Sara Reis Teixeira, César Augusto Pinheiro Ferreira Alves, Fabrício Guimarães Gonçalves, Luis Octavio Tierradentro-García, Martin Kidd,...> ;Cerebellum. 2021 May 30
• 34 citations
  Expanding the genotypic and phenotypic spectrum in a diverse cohort of 104 individuals with Wiedemann-Steiner syndrome
  , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , ,...> ;American Journal of Medical Genetics. Part A. 2021 Mar 30
• 2 citations
  Leigh Syndrome as a Phenotype of Near-Homoplasmic m.8344 A>G Variant in Children.
  Sam Nicholas Russo, Amy Goldstein, Amel Karaa, Mary Kay Koenig, Melissa A. Walker> ;Child Neurology Open. 2021 Mar 2
• 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
• 11 citations
  Seeking impact: Global perspectives on outcome measure selection for translational and clinical research for primary mitochondrial disorders
  Amy Goldstein, Shamima Rahman> ;Journal of Inherited Metabolic Disease. 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
• 15 citations
  Primary Mitochondrial Disorders of the Pediatric Central Nervous System: Neuroimaging Findings.
  Fabrício Guimarães Gonçalves, César Augusto Pinheiro Ferreira Alves, Beth Heuer, James T Peterson, Angela N. Viaene, Sara Reis Teixeira, Juan Sebastian Martin-Saavedra...> ;Radiographics. 2020 Nov 2
• 16 citations
  Phenotypic and Imaging Spectrum Associated With WDR45.
  Laura Adang, Amy Pizzino, Alka Malhotra, Holly Dubbs, Catherine Williams, Omar Sherbini, Anna-Kaisa Anttonen, Gaetan Lesca, Tarja Linnankivi, Chloé Laurencin, Matthieu...> ;Pediatric Neurology. 2020 Aug 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
• First report of childhood progressive cerebellar atrophy due to compound heterozygous MTFMT variants.
  Renkui Bai, Katrina Haude, Edward Yang, Amy Goldstein, Irina Anselm> ;Clinical Genetics. 2020 Mar 5
• 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
• 29 citations
  A randomized crossover trial of elamipretide in adults with primary mitochondrial myopathy
  Amel Karaa, Richard H. Haas, Amy Goldstein, Jerry Vockley, Bruce H. Cohen> ;Journal of Cachexia, Sarcopenia and Muscle. 2020 Feb 25
• 19 citations
  Broadening the phenotypic spectrum of Pearson syndrome: Five new cases and a review of the literature.
  K Taylor Wild, Amy Goldstein, Colleen Muraresku, Rebecca D. Ganetzky> ;American Journal of Medical Genetics. Part A. 2020 Feb 1
• 35 citations
  Partial Loss of USP9X Function Leads to a Male Neurodevelopmental and Behavioral Disorder Converging on Transforming Growth Factor β Signaling.
  , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , ,...> ;Biological Psychiatry. 2020 Jan 15
• 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
• 7 citations
  Characterization of the renal phenotype in RMND1-related mitochondrial disease.
  Brian J. Shayota, Nhon Thanh Le, Nasim Bekheirnia, Jill A. Rosenfeld, Amy Goldstein, Michael L. Moritz, Dennis Bartholomew, Matthew Pastore, Fan Xia, Christine M. Eng,...> ;Molecular Genetics & Genomic Medicine. 2019 Sep 30
• 51 citations
  Redefining the Etiologic Landscape of Cerebellar Malformations.
  Kimberly A. Aldinger, Andrew E. Timms, Zachary Thomson, Ghayda M. Mirzaa, James T. Bennett, Alexander B. Rosenberg, Charles M. Roco, Matthew Hirano, Fatima Abidi, Part...> ;American Journal of Human Genetics. 2019 Sep 5
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