MenaT.ScavinaDO

PubMed

• Diverse Cardiac Phenotype of Becker Muscular Dystrophy: Under-Recognized Subclinical Cardiomyopathy Due to Partial Dystrophin Deficiency in a Contemporary Era.
  Fitzgerald, K., Nigam, P., Scavina, M., Tsuda, T.> ;Pediatric Cardiology. 2024 Jan 19
• The Early Care (0-3 Years) In Duchenne Muscular Dystrophy Meeting Report.
  Scharf, R. J., Niki Armstrong, Susan Apkon, Kiera N Berggren, Catherine Braun, Emma Ciafaloni, Anne Connolly, Annie Kennedy, Nancy Kuntz, Katherine Mathews, Michelle M...> ;Journal of Neuromuscular Diseases. 2024 Jan 1
• Hip Displacement in Spinal Muscular Atrophy: The Influences of Genetic Severity, Functional Level, and Disease-modifying Treatments.
  Ulusaloglu, A., Shrader, M., Mackenzie, W., Erb, A., Howard, J., Asma, A., Scavina, M.> ;Journal of Pediatric Orthopedics. 2024 Mar 1
• 1 citations
  A Mixed-Method Study Exploring Patient-Experienced and Caregiver-Reported Benefits and Side Effects of Corticosteroid Use in Duchenne Muscular Dystrophy.
  Ryan Fischer, Katherine Porter, Joanne M Donovan, Mena T Scavina, Niki Armstrong, Brian Denger, Shabir Hasham, Holly Peay> ;Journal of Neuromuscular Diseases. 2023 Jan 1
• No difference in postoperative complication rates or cardiopulmonary function for early versus late scoliosis correction in Duchenne muscular dystrophy.
  Ali Asma, Armagan Can Ulusaloglu, Michael Wade Shrader, William G Mackenzie, Robert Heinle, Mena Scavina, Jason J Howard> ;Spine Deformity. 2022 Nov 1
• 7 citations
  Newborn screening for Duchenne muscular dystrophy-early detection and diagnostic algorithm for female carriers of Duchenne muscular dystrophy.
  Dorota Gruber, Michele Lloyd-Puryear, Niki Armstrong, Mena Scavina, Norma P Tavakoli, Amy M Brower, Michele Caggana, Wendy K Chung> ;American Journal of Medical Genetics. Part C, Seminars in Medical Genetics. 2022 Jun 1
• 9 citations
  Detection of SMN1 to SMN2 gene conversion events and partial SMN1 gene deletions using array digital PCR
  Deborah L. Stabley, Jennifer Holbrook, Mena Scavina, Thomas O. Crawford, Kathryn J. Swoboda, Katherine M. Robbins, Matthew E.R. Butchbach> ;Neurogenetics. 2021 Jan 7
• 4 citations
  Parent Project Muscular Dystrophy Females with Dystrophinopathy Conference, Orlando, Florida June 26 - June 27, 2019.
  Susan D. Apkon, Kathi Kinnett, Linda H. Cripe, Dongsheng Duan, Jamie L. Jackson, Joe N. Kornegay, May Ling Mah, Stanley F. Nelson, Vamshi Rao, Mena Scavina, Brenda L. ...> ;Journal of Neuromuscular Diseases. 2021 Jan 1
• 5 citations
  A novel MFN2 mutation causes variable clinical severity in a multi-generational CMT2 family.
  Lois Dankwa, Jessica Richardson, William W. Motley, Mena Scavina, Tanya M. Bardakjian, Stephan Züchner, Steven S. Scherer> ;Neuromuscular Disorders. 2019 Feb 1
• 2 citations
  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
  Dong-Hui Chen, Maxwell Ma, Mena Scavina, Elizabeth Blue, John Wolff, Prasanthi Karna, Michael O. Dorschner, Wendy H. Raskind, Thomas D. Bird> ;Muscle & Nerve. 2018 May 1
• 57 citations
  Variants in EXOSC9 Disrupt the RNA Exosome and Result in Cerebellar Atrophy with Spinal Motor Neuronopathy.
  David T. Burns, Sandra Donkervoort, Juliane S. Müller, Ellen Knierim, Diana Bharucha-Goebel, Eissa Faqeih, Stephanie Bell, Abdullah Alfaifi, Dorota Monies, Francisca M...> ;American Journal of Human Genetics. 2018 May 3
• 7 citations
  Critical Airway Stenosis in an Adolescent Male With Pompe Disease and Thoracic Lordosis: A Case Report.
  B. Randall Brenn, Mary T. Theroux, Suken A. Shah, William G. Mackenzie, Robert Heinle, Mena Scavina> ;A & A Case Reports. 2017 Oct 1
• 23 citations
  Microcephaly, intractable seizures and developmental delay caused by biallelic variants in TBCD: further delineation of a new chaperone-mediated tubulinopathy
  Ben Pode-Shakked, Hila Barash, Limor Ziv, Karen W. Gripp, Elisabetta Flex, Ortal Barel, Karen S. Carvalho, Mena Scavina, Giovanni Chillemi, Marcello Niceta, Eran Eyal,...> ;Clinical Genetics. 2017 May 1
• 49 citations
  Nephroblastomatosis or Wilms tumor in a fourth patient with a somatic PIK3CA mutation
  Karen W. Gripp, Laura Baker, Vinay Kandula, Katrina Conard, Mena Scavina, Joseph A. Napoli, Gregory C. Griffin, Mihir Thacker, Rachel G. Knox, Graeme R. Clark, Victori...> ;American Journal of Medical Genetics. Part A. 2016 May 18
• 33 citations
  GMPPB-Associated Dystroglycanopathy: Emerging Common Variants with Phenotype Correlation.
  Braden S. Jensen, Tobias Willer, Dimah Saade, Mary O. Cox, Tahseen Mozaffar, Mena Scavina, Vikki Stefans, Thomas L. Winder, Kevin P. Campbell, Steven A. Moore, Katheri...> ;Human Mutation. 2015 Sep 23
• 46 citations
  SMN1 and SMN2 copy numbers in cell lines derived from patients with spinal muscular atrophy as measured by array digital PCR.
  Deborah L. Stabley, Ashlee W. Harris, Jennifer Holbrook, Nicholas J Chubbs, Kevin W Lozo, Thomas O. Crawford, Kathryn J. Swoboda, Vicky L. Funanage, Wenlan Wang, Willi...> ;Molecular Genetics & Genomic Medicine. 2015 Jul 1
• 147 citations
  Mutations in NGLY1 cause an inherited disorder of the endoplasmic reticulum-associated degradation pathway
  Gregory M. Enns, Vandana Shashi, Matthew N. Bainbridge, Michael J. Gambello, Farah R. Zahir, Thomas Bast, Rebecca Crimian, Kelly Schoch, Julia Platt, Rachel Cox, Jonat...> ;Genetics in Medicine. 2014 Oct 1
• 26 citations
  Clinical, pathologic, and mutational spectrum of dystroglycanopathy caused by LARGE mutations.
  Katherine G. Meilleur, Kristen Zukosky, Livija Medne, Pierre R. Fequiere, Nina Powell-Hamilton, Thomas L. Winder, Abdulaziz Al-Saman, Ayman W. El-Hattab, Jahannaz Dast...> ;Journal of Neuropathology and Experimental Neurology. 2014 May 1
• 77 citations
  Molecular basis of infantile reversible cytochrome c oxidase deficiency myopathy
  Rita Horvath, John P. Kemp, Helen A. L. Tuppen, Gavin Hudson, Anders Oldfors, Suely Kazue Nagahashi Marie, Ali-Reza Moslemi, Serenella Servidei, Elisabeth Holme, Sara ...> ;Brain. 2009 Nov 1
• 6 citations
  Increased susceptibility of spinal muscular atrophy fibroblasts to camptothecin is p53-independent
  Chia-Yen Wu, Ilsa Gómez-Curet, Vicky L. Funanage, Mena Scavina, Wenlan Wang> ;BMC Cell Biology. 2009 May 16
• 68 citations
  Clinical, histological and genetic characterization of reducing body myopathy caused by mutations in FHL1
  Joachim Schessl, A.L. Taratuto, Caroline Sewry, Roberta Battini, Steven S. Chin, Baijayanta Maiti, Alberto Dubrovsky, Marcela G Erro, Graciela Espada, Monica Robertell...> ;Brain. 2009 Feb 1
• 27 citations
  Robust quantification of the SMN gene copy number by real-time TaqMan PCR
  Ilsa Gomez-Curet, Karyn G. Robinson, Vicky L. Funanage, Thomas O. Crawford, Mena Scavina, Wenlan Wang> ;Neurogenetics. 2007 Jul 24
• 41 citations
  Design and Testing of a Functional Arm Orthosis in Patients With Neuromuscular Diseases
  T. Rahman, Whitney Sample, R. Seliktar, M.T. Scavina, A.L. Clark, K. Moran, M. Alexander> ;IEEE Transactions on Neural Systems and Rehabilitation Engineering. 2007 Jun 18
• 43 citations
  Passive exoskeletons for assisting limb movement.
  Tariq Rahman, Whitney Sample, Shanmuga Jayakumar, Marilyn Marnie King, Jin Yong Wee, Rahamim Seliktar, Michael Alexander, Mena Scavina, Alisa Clark> ;Journal of Rehabilitation Research and Development. 2006 Aug 1
• 35 citations
  Prevalence of Charcot-Marie-Tooth disease in patients who have bilateral cavovarus feet.
  Mary K. Nagai, Gilbert Chan, James T. Guille, S. Jay Kumar, Mena Scavina, William G. Mackenzie> ;Journal of Pediatric Orthopedics. 2006 Jul 1
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