Marta Margeta, MD, PhD
Professor
Pathology
School of Medicine

In addition, I participate in clinical trials of newly developed gene therapies for inherited neuromuscular disorders by performing pre- and post-treatment biopsy evaluations. Finally, I am interested in curriculum design and curricular innovation, and perform educational research in these areas.

• Severe Adult-Onset Non-Dystrophic Myotonia With Apnea and Laryngospasm Due to Digenic Inheritance of SCN4A and CLCN1 Variants: A Case Report.
  Neurology. Genetics 2024 Tugizova M, Margeta M, Richie M, Pet D, Rosow L, Terrelonge M, Ralph JW
• Effects of gene replacement therapy with resamirigene bilparvovec (AT132) on skeletal muscle pathology in X-linked myotubular myopathy: results from a substudy of the ASPIRO open-label clinical trial.
  EBioMedicine 2023 Lawlor MW, Schoser B, Margeta M, Sewry CA, Jones KA, Shieh PB, Kuntz NL, Smith BK, Dowling JJ, Müller-Felber W, Bönnemann CG, Seferian AM, Blaschek A, Neuhaus S, Foley AR, Saade DN, Tsuchiya E, Qasim …
• Neuromuscular disease: 2023 update.
  Free neuropathology 2023 Margeta M
• Where is the field of autophagy research heading?
  Autophagy 2023 Abeliovich H, Debnath J, Ding WX, Jackson WT, Kim DH, Klionsky DJ, Ktistakis N, Margeta M, Münz C, Petersen M, Sadoshima J, Vergne I
• Essential laboratory tests for medical education.
  Academic pathology 2022 Deyrup AT, D'Ambrosio D, Muir J, Laboratory Test Working Group, Knollmann-Ritschel B
• Neuromuscular Disease: 2022 Update
  Free Neuropathol 2022 Margeta, M.
• Neuromuscular disease: 2022 update.
  Free neuropathology 2022 Margeta M
• COVID-19-Associated Critical Illness Myopathy with Direct Viral Effects.
  Annals of neurology 2022 Dodig D, Tarnopolsky MA, Margeta M, Gordon K, Fritzler MJ, Lu JQ
• Presenter: Werner Paulus, University Hospital Muenster, Muenster. Publishing A High-quality, Non-commercial Neuropathology Journal Without a Publisher: The First Nine Months.
  Canadian Journal of Neurological Sciences / Journal Canadien des Sciences Neurologiques 2021 Marta Margeta, Peter Gould, Lili-Naz Hazrati, Veronica Hirsch-Reinshagen, Werner Paulus
• Neuromuscular Disease: 2021 Update
  Free Neuropathol 2021 Margeta, M.
• Neuromuscular disease: 2021 update.
  Free neuropathology 2021 Margeta M
• Guidelines for the use and interpretation of assays for monitoring autophagy (4th edition)1.
  Autophagy 2021 Klionsky DJ, Abdel-Aziz AK, Abdelfatah S, Abdellatif M, Abdoli A, Abel S, Abeliovich H, Abildgaard MH, Abudu YP, Acevedo-Arozena A, Adamopoulos IE, Adeli K, Adolph TE, Adornetto A, Aflaki E, Agam G, …
• A Mitochondrial tRNA Mutation Causes Axonal CMT in a Large Venezuelan Family.
  Annals of neurology 2020 Fay A, Garcia Y, Margeta M, Maharjan S, Jürgensen C, Briceño J, Garcia M, Yin S, Bassaganyas L, McMahon T, Hou YM, Fu YH, Ptácek LJ
• Top Ten Discoveries of the Year: Neuromuscular Disease
  Free Neuropathol 2020 Margeta, M.
• Top ten discoveries of the year: Neuromuscular disease.
  Free neuropathology 2020 Margeta M
• Educational Case: Mitochondrial Myopathy.
  Academic pathology 2019 Lucas CG, Margeta M
• Neuroglial stem cell-derived inflammatory pseudotumor (n-SCIPT): clinicopathologic characterization of a novel lesion of the lumbosacral spinal cord and nerve roots following intrathecal allogeneic stem cell intervention.
  Acta neuropathologica 2019 Sloan EA, Sampognaro PJ, Junn JC, Chin C, Jacques L, Ramachandran PS, DeRisi JL, Wilson MR, Kriegstein AR, Bollen AW, Solomon DA, Margeta M, Engstrom JW
• Ovarian Teratomas in Women With Anti-N-methyl-D-Aspartate Receptor Encephalitis: Topography and Composition of Immune Cell and Neuroglial Populations Is Compatible With an Autoimmune Mechanism of Disease.
  The American journal of surgical pathology 2019 Nolan A, Buza N, Margeta M, Rabban JT
• COL4A1 Mutations Cause Neuromuscular Disease with Tissue-Specific Mechanistic Heterogeneity.
  American journal of human genetics 2019 Labelle-Dumais C, Schuitema V, Hayashi G, Hoff K, Gong W, Dao DQ, Ullian EM, Oishi P, Margeta M, Gould DB
• Skeletal myopathy in Pompe disease: a failure of satellite cell activation?
  Acta neuropathologica communications 2018 Hiniker A, Margeta M
• T-Cell-Mediated Inflammatory Myopathies in HIV-Positive Individuals: A Histologic Study of 19 Cases.
  Journal of neuropathology and experimental neurology 2016 Hiniker A, Daniels BH, Margeta M
• Guidelines for the use and interpretation of assays for monitoring autophagy (3rd edition).
  Autophagy 2016 Klionsky DJ, Abdelmohsen K, Abe A, Abedin MJ, Abeliovich H, Acevedo Arozena A, Adachi H, Adams CM, Adams PD, Adeli K, Adhihetty PJ, Adler SG, Agam G, Agarwal R, Aghi MK, Agnello M, Agostinis P, …
• Sarcoid polyneuropathy masquerading as chronic inflammatory demyelinating polyneuropathy.
  Muscle & nerve 2015 Singhal NS, Irodenko VS, Margeta M, Layzer RB
• Complex sarcolemmal invaginations mimicking myotendinous junctions in a case of Laing early-onset distal myopathy.
  Neuropathology : official journal of the Japanese Society of Neuropathology 2015 Reis GF, de la Motte G, Gooding R, Laing NG, Margeta M
• Amyloid polyneuropathy caused by wild-type transthyretin.
  Muscle & nerve 2015 Lam L, Margeta M, Layzer R
• CNS intravascular large cell lymphoma in a patient with autoimmune hemolytic anemia.
  Neuropathology : official journal of the Japanese Society of Neuropathology 2014 Alexandrescu S, Orengo JP, Toossi S, Perry A, Treseler P, Hess C, Margeta M
• Regulatory T cells suppress muscle inflammation and injury in muscular dystrophy.
  Science translational medicine 2014 Villalta SA, Rosenthal W, Martinez L, Kaur A, Sparwasser T, Tidball JG, Margeta M, Spencer MJ, Bluestone JA
• Analysis of Mll1 deficiency identifies neurogenic transcriptional modules and Brn4 as a factor for direct astrocyte-to-neuron reprogramming.
  Neurosurgery 2014 Potts MB, Siu JJ, Price JD, Salinas RD, Cho MJ, Ramos AD, Hahn J, Margeta M, Oldham MC, Lim DA
• Axial mitochondrial myopathy in a patient with rapidly progressive adult-onset scoliosis.
  Acta neuropathologica communications 2014 Hiniker A, Wong LJ, Berven S, Truong CK, Adesina AM, Margeta M
• Novel interstitial 2.6 Mb deletion on 9q21 associated with multiple congenital anomalies.
  American journal of medical genetics. Part A 2014 Pua HH, Krishnamurthi S, Farrell J, Margeta M, Ursell PC, Powers M, Slavotinek AM, Jeng LJ
• Increased autophagy accelerates colchicine-induced muscle toxicity.
  Autophagy 2013 Ching JK, Ju JS, Pittman SK, Margeta M, Weihl CC
• The CHC22 clathrin-GLUT4 transport pathway contributes to skeletal muscle regeneration.
  PloS one 2013 Hoshino S, Sakamoto K, Vassilopoulos S, Camus SM, Griffin CA, Esk C, Torres JA, Ohkoshi N, Ishii A, Tamaoka A, Funke BH, Kucherlapati R, Margeta M, Rando TA, Brodsky FM
• LC3 and p62 as diagnostic markers of drug-induced autophagic vacuolar cardiomyopathy: a study of 3 cases.
  The American journal of surgical pathology 2013 Daniels BH, McComb RD, Mobley BC, Gultekin SH, Lee HS, Margeta M
• Rare somatic cells from human breast tissue exhibit extensive lineage plasticity.
  Proceedings of the National Academy of Sciences of the United States of America 2013 Roy S, Gascard P, Dumont N, Zhao J, Pan D, Petrie S, Margeta M, Tlsty TD
• Molecular basis for vulnerability to mitochondrial and oxidative stress in a neuroendocrine CRI-G1 cell line.
  PloS one 2011 Chandiramani N, Wang X, Margeta M
• Cardiac pathology exceeds skeletal muscle pathology in two cases of limb-girdle muscular dystrophy type 2I.
  Muscle & nerve 2009 Margeta M, Connolly AM, Winder TL, Pestronk A, Moore SA
• Dermatomyositis with inclusion body myositis pathology.
  Muscle & nerve 2009 Layzer R, Lee HS, Iverson D, Margeta M
• Cardiac pathology in a case of limb-girdle muscular dystrophy type 2I (LGMD-2I).
  The FASEB Journal 2008 Marta Margeta, Thomas L Winder, Steven A Moore
• Type B gamma-aminobutyric acid receptors modulate the function of the extracellular Ca2+-sensing receptor and cell differentiation in murine growth plate chondrocytes.
  Endocrinology 2007 Cheng Z, Tu C, Rodriguez L, Chen TH, Dvorak MM, Margeta M, Gassmann M, Bettler B, Shoback D, Chang W
• Complex formation with the Type B gamma-aminobutyric acid receptor affects the expression and signal transduction of the extracellular calcium-sensing receptor. Studies with HEK-293 cells and neurons.
  The Journal of biological chemistry 2007 Chang W, Tu C, Cheng Z, Rodriguez L, Chen TH, Gassmann M, Bettler B, Margeta M, Jan LY, Shoback D
• Infant botulism, type F, presenting at 54 hours of life.
  Pediatric neurology 2005 Keet CA, Fox CK, Margeta M, Marco E, Shane AL, Dearmond SJ, Strober JB, Miller SP
• Contribution of GIRK2-mediated postsynaptic signaling to opiate and alpha 2-adrenergic analgesia and analgesic sex differences.
  Proceedings of the National Academy of Sciences of the United States of America 2002 Mitrovic I, Margeta-Mitrovic M, Bader S, Stoffel M, Jan LY, Basbaum AI
• Assembly-dependent trafficking assays in the detection of receptor-receptor interactions.
  Methods (San Diego, Calif.) 2002 Margeta-Mitrovic M
• Function of GB1 and GB2 subunits in G protein coupling of GABA(B) receptors.
  Proceedings of the National Academy of Sciences of the United States of America 2001 Margeta-Mitrovic M, Jan YN, Jan LY
• Ligand-induced signal transduction within heterodimeric GABA(B) receptor.
  Proceedings of the National Academy of Sciences of the United States of America 2001 Margeta-Mitrovic M, Jan YN, Jan LY
• A trafficking checkpoint controls GABA(B) receptor heterodimerization.
  Neuron 2000 Margeta-Mitrovic M, Jan YN, Jan LY
• Immunohistochemical localization of GABA(B) receptors in the rat central nervous system.
  The Journal of comparative neurology 1999 Margeta-Mitrovic M, Mitrovic I, Riley RC, Jan LY, Basbaum AI
• Neurotensin and substance P inhibit low- and high-voltage-activated Ca2+ channels in cultured newborn rat nucleus basalis neurons.
  Journal of neurophysiology 1997 Margeta-Mitrovic M, Grigg JJ, Koyano K, Nakajima Y, Nakajima S