Thomas Jefferson University

Mena Scavina

TitleVolunteer Faculty
InstitutionThomas Jefferson University
DepartmentFaculty Records
Address1025 Walnut St.
Philadelphia PA 19107
vCardDownload vCard

    Collapse Bibliographic 
    Collapse selected publications
    Publications listed below are automatically derived from MEDLINE/PubMed and other sources, which might result in incorrect or missing publications. Faculty can login to make corrections and additions.
    Newest   |   Oldest   |   Most Cited   |   Most Discussed   |   Timeline   |   Field Summary   |   Plain Text
    PMC Citations indicate the number of times the publication was cited by articles in PubMed Central, and the Altmetric score represents citations in news articles and social media. (Note that publications are often cited in additional ways that are not shown here.) Fields are based on how the National Library of Medicine (NLM) classifies the publication's journal and might not represent the specific topic of the publication. Translation tags are based on the publication type and the MeSH terms NLM assigns to the publication. Some publications (especially newer ones and publications not in PubMed) might not yet be assigned Field or Translation tags.) Click a Field or Translation tag to filter the publications.
    1. Ciftci S, Ulusaloglu AC, Shrader MW, Scavina MT, Mackenzie WG, Heinle R, Neal KM, Stall A, Howard JJ. Scoliosis Development in Spinal Muscular Atrophy: The Influences of Genetic Severity, Functional Level, and Disease-Modifying Treatments. J Pediatr Orthop. 2024 Jun 25. PMID: 38916214.
      Citations:    
    2. M?ller B, Becker LL, Saffari A, Afenjar A, Coci EG, Williamson R, Ward-Melver C, Gibaud M, Sedl?ckov? L, La??uthov? P, Lib? Z, Vlckov? M, William N, Klee EW, Gavrilova RH, L?vy J, Capri Y, Scavina M, K?rner RW, Valuvullah Z, Wei? C, M?ller GM, Thiel M, Sinnema M, Kamsteeg EJ, Donkervoort S, Duboc V, Zaafrane-Khachnaoui K, Elkhateeb N, Selim L, Margot H, Marin V, Beneteau C, Isidor B, Cogne B, Keren B, K?sters B, Beggs AH, Genetti CA, Nicolai J, D?tsch J, Koy A, B?nnemann CG, von der Hagen M, von Kleist-Retzow JC, Voermans N, Jungbluth H, Dafsari HS. The expanding clinical and genetic spectrum of DYNC1H1-related disorders. Brain. 2024 Jun 08. PMID: 38848546.
      Citations:    
    3. Foley AR, Bolduc V, Guirguis F, Donkervoort S, Hu Y, Orbach R, McCarty RM, Sarathy A, Norato G, Cummings BB, Lek M, Sarkozy A, Butterfield RJ, Kirschner J, Nascimento A, Benito DN, Quijano-Roy S, Stojkovic T, Merlini L, Comi G, Ryan M, McDonald D, Munot P, Yoon G, Leung E, Finanger E, Leach ME, Collins J, Tian C, Mohassel P, Neuhaus SB, Saade D, Cocanougher BT, Chu ML, Scavina M, Grosmann C, Richardson R, Kossak BD, Gospe SM, Bhise V, Taurina G, Lace B, Troncoso M, Shohat M, Shalata A, Chan SHS, Jokela M, Palmio J, Haliloglu G, Jou C, Gartioux C, Solomon-Degefa H, Freiburg CD, Schiavinato A, Zhou H, Aguti S, Nevo Y, Nishino I, Jimenez-Mallebrera C, Lamand? SR, Allamand V, Gualandi F, Ferlini A, MacArthur DG, Wilton SD, Wagener R, Bertini E, Muntoni F, B?nnemann CG. The recurrent deep intronic pseudoexon-inducing variant COL6A1 c.930+189C>T results in a consistently severe phenotype of COL6-related dystrophy: Towards clinical trial readiness for splice-modulating therapy. medRxiv. 2024 Mar 29. PMID: 38585825.
      Citations:    
    4. Nigam P, Fitzgerald KK, Scavina M, Tsuda T. Diverse Cardiac Phenotype of Becker Muscular Dystrophy: Under-Recognized Subclinical Cardiomyopathy Due to Partial Dystrophin Deficiency in a Contemporary Era. Pediatr Cardiol. 2024 Jan 19. PMID: 38240762.
      Citations:    
    5. Armstrong N, Apkon S, Berggren KN, Braun C, Ciafaloni E, Connolly A, Kennedy A, Kuntz N, Mathews K, McGuire M, Parad R, Scavina M, Scharf RJ, Waldrop M. The Early Care (0-3 Years) In Duchenne Muscular Dystrophy Meeting Report. J Neuromuscul Dis. 2024 Jan 04. PMID: 38189762.
      Citations:    
    6. Ulusaloglu AC, Asma A, Shrader MW, Scavina MT, Mackenzie WG, Erb A, Howard JJ. Hip Displacement in Spinal Muscular Atrophy: The Influences of Genetic Severity, Functional Level, and Disease-modifying Treatments. J Pediatr Orthop. 2023 Dec 11. PMID: 38073182.
      Citations:    
    7. Fischer R, Porter K, Donovan JM, Scavina MT, Armstrong N, Denger B, Hasham S, Peay H. A Mixed-Method Study Exploring Patient-Experienced and Caregiver-Reported Benefits and Side Effects of Corticosteroid Use in Duchenne Muscular Dystrophy. J Neuromuscul Dis. 2023 May 05. PMID: 37182893.
      Citations:    
    8. Gruber D, Lloyd-Puryear M, Armstrong N, Scavina M, Tavakoli NP, Brower AM, Caggana M, Chung WK. Newborn screening for Duchenne muscular dystrophy-early detection and diagnostic algorithm for female carriers of Duchenne muscular dystrophy. Am J Med Genet C Semin Med Genet. 2022 06; 190(2):197-205. PMID: 36152336.
      Citations:    
    9. Asma A, Ulusaloglu AC, Shrader MW, Mackenzie WG, Heinle R, Scavina M, Howard JJ. No difference in postoperative complication rates or cardiopulmonary function for early versus late scoliosis correction in Duchenne muscular dystrophy. Spine Deform. 2022 11; 10(6):1429-1436. PMID: 35691977.
      Citations:    
    10. Stabley DL, Holbrook J, Scavina M, Crawford TO, Swoboda KJ, Robbins KM, Butchbach MER. Detection of SMN1 to SMN2 gene conversion events and partial SMN1 gene deletions using array digital PCR. Neurogenetics. 2021 03; 22(1):53-64. PMID: 33415588.
      Citations:    
    11. Apkon S, Kinnett K, Cripe L, Duan D, Jackson JL, Kornegay JN, Mah ML, Nelson SF, Rao V, Scavina M, Wong BL, Flanigan KM. Parent Project Muscular Dystrophy Females with Dystrophinopathy Conference, Orlando, Florida June 26 - June 27, 2019. J Neuromuscul Dis. 2021; 8(2):315-322. PMID: 33361607.
      Citations:    
    12. Dankwa L, Richardson J, Motley WW, Scavina M, Courel S, Bardakjian T, Z?chner S, Scherer SS. A novel MFN2 mutation causes variable clinical severity in a multi-generational CMT2 family. Neuromuscul Disord. 2019 02; 29(2):134-137. PMID: 30642740.
      Citations:    
    13. Burns DT, Donkervoort S, M?ller JS, Knierim E, Bharucha-Goebel D, Faqeih EA, Bell SK, AlFaifi AY, Monies D, Millan F, Retterer K, Dyack S, MacKay S, Morales-Gonzalez S, Giunta M, Munro B, Hudson G, Scavina M, Baker L, Massini TC, Lek M, Hu Y, Ezzo D, AlKuraya FS, Kang PB, Griffin H, Foley AR, Schuelke M, Horvath R, B?nnemann CG. Variants in EXOSC9 Disrupt the RNA Exosome and Result in Cerebellar Atrophy with Spinal Motor Neuronopathy. Am J Hum Genet. 2018 05 03; 102(5):858-873. PMID: 29727687.
      Citations:    
    14. Chen DH, Ma M, Scavina M, Blue E, Wolff J, Karna P, Dorschner MO, Raskind WH, Bird TD. An 8-generation family with X-linked Charcot-Marie-Tooth: Confirmation Of the pathogenicity Of a 3' untranslated region mutation in GJB1 and its clinical features. Muscle Nerve. 2018 05; 57(5):859-862. PMID: 29236290.
      Citations:    
    15. Brenn BR, Theroux MT, Shah SA, Mackenzie WG, Heinle R, Scavina MT. Critical Airway Stenosis in an Adolescent Male With Pompe Disease and Thoracic Lordosis: A Case Report. A A Case Rep. 2017 Oct 01; 9(7):199-203. PMID: 28542051.
      Citations:    
    16. Gripp KW, Baker L, Kandula V, Conard K, Scavina M, Napoli JA, Griffin GC, Thacker M, Knox RG, Clark GR, Parker VE, Semple R, Mirzaa G, Keppler-Noreuil KM. Nephroblastomatosis or Wilms tumor in a fourth patient with a somatic PIK3CA mutation. Am J Med Genet A. 2016 10; 170(10):2559-69. PMID: 27191687.
      Citations:    
    17. Jensen BS, Willer T, Saade DN, Cox MO, Mozaffar T, Scavina M, Stefans VA, Winder TL, Campbell KP, Moore SA, Mathews KD. GMPPB-Associated Dystroglycanopathy: Emerging Common Variants with Phenotype Correlation. Hum Mutat. 2015 Dec; 36(12):1159-63. PMID: 26310427.
      Citations:    
    18. Stabley DL, Harris AW, Holbrook J, Chubbs NJ, Lozo KW, Crawford TO, Swoboda KJ, Funanage VL, Wang W, Mackenzie W, Scavina M, Sol-Church K, Butchbach ME. SMN1 and SMN2 copy numbers in cell lines derived from patients with spinal muscular atrophy as measured by array digital PCR. Mol Genet Genomic Med. 2015 Jul; 3(4):248-57. PMID: 26247043.
      Citations:    
    19. Meilleur KG, Zukosky K, Medne L, Fequiere P, Powell-Hamilton N, Winder TL, Alsaman A, El-Hattab AW, Dastgir J, Hu Y, Donkervoort S, Golden JA, Eagle R, Finkel R, Scavina M, Hood IC, Rorke-Adams LB, B?nnemann CG. Clinical, pathologic, and mutational spectrum of dystroglycanopathy caused by LARGE mutations. J Neuropathol Exp Neurol. 2014 May; 73(5):425-41. PMID: 24709677.
      Citations:    
    20. Enns GM, Shashi V, Bainbridge M, Gambello MJ, Zahir FR, Bast T, Crimian R, Schoch K, Platt J, Cox R, Bernstein JA, Scavina M, Walter RS, Bibb A, Jones M, Hegde M, Graham BH, Need AC, Oviedo A, Schaaf CP, Boyle S, Butte AJ, Chen R, Chen R, Clark MJ, Haraksingh R, Cowan TM, He P, Langlois S, Zoghbi HY, Snyder M, Gibbs RA, Freeze HH, Goldstein DB. Mutations in NGLY1 cause an inherited disorder of the endoplasmic reticulum-associated degradation pathway. Genet Med. 2014 Oct; 16(10):751-8. PMID: 24651605.
      Citations:    
    21. Horvath R, Kemp JP, Tuppen HA, Hudson G, Oldfors A, Marie SK, Moslemi AR, Servidei S, Holme E, Shanske S, Kollberg G, Jayakar P, Pyle A, Marks HM, Holinski-Feder E, Scavina M, Walter MC, Coku J, G?nther-Scholz A, Smith PM, McFarland R, Chrzanowska-Lightowlers ZM, Lightowlers RN, Hirano M, Lochm?ller H, Taylor RW, Chinnery PF, Tulinius M, DiMauro S. Molecular basis of infantile reversible cytochrome c oxidase deficiency myopathy. Brain. 2009 Nov; 132(Pt 11):3165-74. PMID: 19720722.
      Citations:    
    22. Wu CY, G?mez-Curet I, Funanage VL, Scavina M, Wang W. Increased susceptibility of spinal muscular atrophy fibroblasts to camptothecin is p53-independent. BMC Cell Biol. 2009 May 16; 10:40. PMID: 19445707.
      Citations:    
    23. Schessl J, Taratuto AL, Sewry C, Battini R, Chin SS, Maiti B, Dubrovsky AL, Erro MG, Espada G, Robertella M, Saccoliti M, Olmos P, Bridges LR, Standring P, Hu Y, Zou Y, Swoboda KJ, Scavina M, Goebel HH, Mitchell CA, Flanigan KM, Muntoni F, B?nnemann CG. Clinical, histological and genetic characterization of reducing body myopathy caused by mutations in FHL1. Brain. 2009 Feb; 132(Pt 2):452-64. PMID: 19181672.
      Citations:    
    24. G?mez-Curet I, Robinson KG, Funanage VL, Crawford TO, Scavina M, Wang W. Robust quantification of the SMN gene copy number by real-time TaqMan PCR. Neurogenetics. 2007 Nov; 8(4):271-8. PMID: 17647030.
      Citations:    
    25. Rahman T, Sample W, Seliktar R, Scavina MT, Clark AL, Moran K, Alexander MA. Design and testing of a functional arm orthosis in patients with neuromuscular diseases. IEEE Trans Neural Syst Rehabil Eng. 2007 Jun; 15(2):244-51. PMID: 17601194.
      Citations:    
    26. Rahman T, Sample W, Jayakumar S, King MM, Wee JY, Seliktar R, Alexander M, Scavina M, Clark A. Passive exoskeletons for assisting limb movement. J Rehabil Res Dev. 2006 Aug-Sep; 43(5):583-90. PMID: 17123200.
      Citations:    
    27. Nagai MK, Chan G, Guille JT, Kumar SJ, Scavina M, Mackenzie WG. Prevalence of Charcot-Marie-Tooth disease in patients who have bilateral cavovarus feet. J Pediatr Orthop. 2006 Jul-Aug; 26(4):438-43. PMID: 16791058.
      Citations:    
    28. Shy ME, Scavina MT, Clark A, Krajewski KM, Li J, Kamholz J, Kolodny E, Szigeti K, Fischer RA, Saifi GM, Scherer SS, Lupski JR. T118M PMP22 mutation causes partial loss of function and HNPP-like neuropathy. Ann Neurol. 2006 Feb; 59(2):358-64. PMID: 16437560.
      Citations:    
    29. Azmaipairashvili Z, Riddle EC, Scavina M, Kumar SJ. Correction of cavovarus foot deformity in Charcot-Marie-Tooth disease. J Pediatr Orthop. 2005 May-Jun; 25(3):360-5. PMID: 15832156.
      Citations:    
    30. Wang W, Dimatteo D, Funanage VL, Scavina M. Increased susceptibility of spinal muscular atrophy fibroblasts to camptothecin-induced cell death. Mol Genet Metab. 2005 May; 85(1):38-45. PMID: 15862279.
      Citations:    
    31. Doyle DA, Gonzalez I, Thomas B, Scavina M. Autosomal dominant transmission of congenital hypothyroidism, neonatal respiratory distress, and ataxia caused by a mutation of NKX2-1. J Pediatr. 2004 Aug; 145(2):190-3. PMID: 15289765.
      Citations:    
    32. Boerkoel CF, Takashima H, Garcia CA, Olney RK, Johnson J, Berry K, Russo P, Kennedy S, Teebi AS, Scavina M, Williams LL, Mancias P, Butler IJ, Krajewski K, Shy M, Lupski JR. Charcot-Marie-Tooth disease and related neuropathies: mutation distribution and genotype-phenotype correlation. Ann Neurol. 2002 Feb; 51(2):190-201. PMID: 11835375.
      Citations:    
    33. Marks HG, Scavina MT, Kolodny EH, Palmieri M, Childs J. Krabbe's disease presenting as a peripheral neuropathy. Muscle Nerve. 1997 Aug; 20(8):1024-8. PMID: 9236794.
      Citations:    
    Scavina's Networks
    Click the
    Explore
    buttons for more information and interactive visualizations!
    Concepts (173)
    Explore
    _
    Co-Authors (12)
    Explore
    _
    Similar People (60)
    Explore
    _
    Same Department Expand Description
    Explore
    _