NicholasEJohnsonMD

PubMed

• Genetic Patterns of Selected Muscular Dystrophies in the Muscular Dystrophy Surveillance, Tracking, and Research Network.
  Jorand-Fletcher, M., Zhang, W., McDermott, S., Berry, R., Chambers, C., Wong, K., Mohamed, Y., Thomas, S., Venkatesh, Y., Westfield, C., Whitehead, N., , Kang, P., Joh...> ;Neurology. Genetics. 2023 Dec 1
• 6 citations
  Antisense oligonucleotide targeting DMPK in patients with myotonic dystrophy type 1: a multicentre, randomised, dose-escalation, placebo-controlled, phase 1/2a trial.
  Charles A Thornton, Richard Thomas Moxley 3rd, Katy Eichinger, Chad Heatwole, Laurence Mignon, W David Arnold, Tetsuo Ashizawa, John W Day, Gersham Dent, Matthew K Tan...> ;The Lancet. Neurology. 2023 Mar 1
• Dynamics and variability of transcriptomic dysregulation in congenital myotonic dystrophy during pediatric development.
  Melissa A Hale, Kameron Bates, Marina Provenzano, Nicholas E Johnson> ;Human Molecular Genetics. 2023 Apr 20
• 8 citations
  Randomized phase 2 study of ACE-083, a muscle-promoting agent, in facioscapulohumeral muscular dystrophy.
  Jeffrey M Statland, Craig Campbell, Urvi Desai, Chafic Karam, Jordi Díaz-Manera, Jeffrey T Guptill, Lawrence Korngut, Angela Genge, Rabi N Tawil, Lauren Elman, Nanette...> ;Muscle & Nerve. 2022 Jul 1
• 6 citations
  Evaluation of effects of continued corticosteroid treatment on cardiac and pulmonary function in non-ambulatory males with Duchenne muscular dystrophy from MD STARnet.
  Russell J Butterfield, Sergey Kirkov, Kristin M Conway, Nicholas Johnson, Dennis Matthews, Han Phan, Bo Cai, Pangaja Paramsothy, Shiny Thomas, Marcia L Feldkamp> ;Muscle & Nerve. 2022 Jul 1
• 5 citations
  Selected clinical and demographic factors and all-cause mortality among individuals with Duchenne muscular dystrophy in the Muscular Dystrophy Surveillance, Tracking, ...
  Pangaja Paramsothy, Yinding Wang, Bo Cai, Kristin M Conway, Nicholas E Johnson, Shree Pandya, Emma Ciafaloni, Katherine D Mathews, Paul A Romitti, James F Howard Jr, C...> ;Neuromuscular Disorders. 2022 Jun 1
• 3 citations
  Understanding the Perseverance of the Muscular Dystrophy Community One-Year into the COVID-19 Pandemic.
  Leann Lewis, Katy Eichinger, Nuran Dilek, Kiley Higgs, Michaela Walker, David Palmer, John M Cooley, Nicholas Johnson, Rabi Tawil, Jeffrey Statland> ;Journal of Neuromuscular Diseases. 2022 Jan 1
• Neurologic Therapeutics in 2035: The Neurology Future Forecasting Series.
  Nicholas E Johnson, Ericka Greene> ;Neurology. 2021 Dec 14
• 1 citations
  A population-based study of scoliosis among males diagnosed with a dystrophinopathy identified by the Muscular Dystrophy Surveillance, Tracking, and Research Network (...
  Kristin M Conway, Amber M Gedlinske, Katherine D. Mathews, Seth Perlman, Nicholas E. Johnson, Russell J. Butterfield, Man Hung, Jerry Bounsanga, Dennis J. Matthews, Jo...> ;Muscle & Nerve. 2021 Nov 17
• 2 citations
  Patient Reported Quality of Life in Limb Girdle Muscular Dystrophy
  Laurel Kovalchick, Kameron Bates, Jeffrey Statland, C. Weihl, Peter B. Kang, Linda Lowes, Tahseen Mozaffar, Volker Straub, Matthew Wicklund, Chad Heatwole, Nicholas E....> ;Neuromuscular Disorders. 2021 Nov 13
• 4 citations
  Characteristics of Clinical Trial Participants with Duchenne Muscular Dystrophy: Data from the Muscular Dystrophy Surveillance, Tracking, and Research Network (MD STAR...
  Katherine D. Mathews, Kristin M Conway, Amber M Gedlinske, Nicholas E. Johnson, Natalie Street, Russell J. Butterfield, Man Hung, Emma Ciafaloni, Paul A. Romitti> ;Children. 2021 Sep 23
• 42 citations
  p53 convergently activates Dux/DUX4 in embryonic stem cells and in facioscapulohumeral muscular dystrophy cell models.
  Edward J. Grow, Bradley D. Weaver, Christina M. Smith, Jingtao Guo, Paula Stein, Sean C. Shadle, Peter G. Hendrickson, Nicholas E. Johnson, Russell J. Butterfield, Rob...> ;Nature Genetics. 2021 Jul 15
• 3 citations
  Correction to: Reldesemtiv in Patients with Spinal Muscular Atrophy: a Phase 2 Hypothesis-Generating Study.
  Stacy A. Rudnicki, Jinsy A. Andrews, Tina Duong, Bettina M. Cockroft, Fady I. Malik, Lisa Meng, Jenny Wei, Andrew A. Wolff, Angela Genge, Nicholas E. Johnson, Carolina...> ;Neurotherapeutics. 2021 Jul 1
• 3 citations
  Long-term efficacy and safety of dichlorphenamide for treatment of primary periodic paralysis
  Valeria A. Sansone, Nicholas E. Johnson, Michael G. Hanna, Emma Ciafaloni, Jeffrey Statland, Perry B Shieh, Fredric Cohen, Robert C. Griggs> ;Muscle & Nerve. 2021 Jun 15
• 12 citations
  Duodenal-Jejunal Bypass Liner for the management of Type 2 Diabetes Mellitus and Obesity: A Multicenter Randomized Controlled Trial.
  Aruchuna Ruban, Alexander D. Miras, Michael A. Glaysher, Anthony P. Goldstone, Christina G. Prechtl, Nicholas E. Johnson, Navpreet Chhina, Werd Al-Najim, Madhawi Aldhw...> ;Annals of Surgery. 2021 Jun 14
• 6 citations
  A patient-focused survey to assess the effects of the COVID-19 pandemic and social guidelines on people with muscular dystrophy.
  Katy Eichinger, Leann Lewis, Nuran Dilek, Kiley Higgs, Michaela Walker, David L. Palmer, John M Cooley, Nicholas E. Johnson, Rabi Tawil, Jeffrey Statland> ;Muscle & Nerve. 2021 Jun 8
• 14 citations
  The Spinal Muscular Atrophy Health Index: A novel outcome for measuring how a patient feels and functions
  Christine Zizzi, Elizabeth Luebbe, Phillip Mongiovi, Michael Hunter, Nuran Dilek, Connie Garland, Emma Ciafaloni, Craig M. Zaidman, John T. Kissel, Michael P. McDermot...> ;Muscle & Nerve. 2021 Mar 24
• 2 citations
  High throughput screening for expanded CTG repeats in myotonic dystrophy type 1 using melt curve analysis.
  Russell J. Butterfield, Carina Imburgia, Katie Mayne, Tara M. Newcomb, Diane M. Dunn, Brett Duval, Marcia L. Feldkamp, Nicholas E. Johnson, Robert B. Weiss> ;Molecular Genetics & Genomic Medicine. 2021 Feb 24
• 18 citations
  Reldesemtiv in Patients with Spinal Muscular Atrophy: a Phase 2 Hypothesis-Generating Study.
  Stacy A. Rudnicki, Jinsy A. Andrews, Tina Duong, Bettina M. Cockroft, Fady I. Malik, Lisa Meng, Jenny Wei, Andrew A. Wolff, Angela Genge, Nicholas E. Johnson, Carolina...> ;Neurotherapeutics. 2021 Feb 23
• 8 citations
  Association of genetic mutations and loss of ambulation in childhood-onset dystrophinopathy.
  Gregory Haber, Kristin M Conway, Pangaja Paramsothy, Anindya Roy, Hobart Rogers, Xiang Ling, Nicholas Kozauer, Natalie Street, Paul A. Romitti, Deborah J. Fox, Han C P...> ;Muscle & Nerve. 2021 Jan 31
• 57 citations
  Population-Based Prevalence of Myotonic Dystrophy Type 1 Using Genetic Analysis of Statewide Blood Screening Program.
  Nicholas E. Johnson, Russell J Butterfield, Katie Mayne, Tara M. Newcomb, Carina Imburgia, Diane M. Dunn, Brett Duval, Marcia L. Feldkamp, Robert B. Weiss> ;Neurology. 2021 Jan 20
• 3 citations
  12-Month progression of motor and functional outcomes in congenital myotonic dystrophy.
  Kellen H. Quigg, Kiera Berggren, Melissa McIntyre, Kameron Bates, Francesca Salmin, Jacopo Casiraghi, Adele DʼAmico, Guja Astrea, Federica Ricci, Marnee J. McKay, Jenn...> ;Muscle & Nerve. 2021 Jan 10
• 24 citations
  Natural history of Charcot-Marie-Tooth disease type 2A: a large international multicentre study.
  Menelaos Pipis, Shawna M. E. Feely, James M. Polke, M Skorupinska, Laura Perez, R Shy, Matilde Laura, Jasper M. Morrow, Isabella Moroni, Chiara Pisciotta, Franco Taron...> ;Brain. 2020 Dec 1
• 15 citations
  Mexiletine in Myotonic Dystrophy Type 1: A Randomized, Double-Blind, Placebo-Controlled Trial.
  Chad Heatwole, Elizabeth Luebbe, Spencer Rosero, Katy Eichinger, William B. Martens, James E. Hilbert, Jeanne Dekdebrun, Nuran Dilek, Christine Zizzi, Nicholas E. John...> ;Neurology. 2020 Oct 12
• 12 citations
  Phenotypic diversity in an international Cure VCP Disease registry.
  Chiseko Ikenaga, Andrew R. Findlay, Michelle Seiffert, Allison Peck, Nathan Peck, Nicholas E. Johnson, Jeffrey Statland, Conrad C. Weihl> ;Orphanet Journal of Rare Diseases. 2020 Sep 29
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Journal Articles

• The Impact of Congenital and Childhood Myotonic Dystrophy on Quality of Life: A Qualitative Study of Associated Symptoms  
  Johnson NE, Luebbe E, Eastwood E, Chin N, Moxley RT 3rd, Heatwole CR, J Child Neurol, 1/1/2013
• New insights about the incidence, multisystem manifestations, and care of patients with congenital myotonic dystrophy  
  Hilbert JE, Johnson NE, Moxley RT 3rd, J Pediatr, 1/1/2013
• Myotonia congenita in a patient who presented with diplopia and ptosis [Letter to the editor]  
  Odrzywolski K, Johnson NE, Twydell PT, Muscle Nerve, 1/1/2013
• Patient Reported Impact of Symptoms in Myotonic Dystrophy Type-1: (PRISM-1)  
  Heatwole CR, Bode R, Johnson NE, Quinn C, Martens WB, McDermott MP, et al, Neurology, 1/1/2012
• Noninvasive microscopic imaging of sensory receptors in neuropathy  
  Johnson NE, Herrmann DN, Neurology, 1/1/2012
• Education research: neurology training reassessed The 2011 American Academy of Neurology Resident Survey results  
  Johnson NE, Maas MB, Coleman M, Jozefowicz R, Engstrom J, Neurology, 1/1/2012
• Plasma Exchange vs Intravenous Immunoglobulin for Myasthenia Gravis Crisis: An acute hospital cost comparison study  
  Heatwole CR, Johnson NE, Holloway R, Noyes K, J Clin Neuromuscular Dis, 1/1/2011
• Plasma exchange versus intravenous immunoglobulin for myasthenia gravis crisis: an acute hospital cost comparison study  
  Heatwole C, Johnson N, Holloway R, Noyes K, Neuromuscular Dis, 1/1/2011
• Rapid resolution of severe neuralgic amyotrophy after treatment with corticosteroids and intravenous immunoglobulin [Letter to the editor]  
  Johnson NE, Petraglia AL, Huang JH, Logigian EL, Muscle Nerve, 1/1/2011
• Why Neurology Residents Need to Get Involved in Health System Reform  
  Johnson N, Neurology Today, 1/1/2010
• Anti-NMDA receptor encephalitis causing prolonged nonconvulsive status epilepticus  
  Johnson N, Henry C, Fessler AJ, Dalmau J, Neurology, 1/1/2010
• Laboratory abnormalities in ambulatory patients with myotonic dystrophy type 1  
  Heatwole CR, Miller J, Martens B, Moxley RT 3rd, Arch Neurol, 1/1/2006
• Staufen- and FMRP-containing neuronal RNPs are structurally and functionally related to somatic P bodies  
  Barbee SA, Estes PS, Cziko AM, Hillebrand J, Luedeman RA, Coller JM, Johnson N, Howlett IC, Geng C, Ueda R, Brand AH, Newbury SF, Wilhelm JE, Levine RB, Nakamura A, Pa..., Neuron, 1/1/2006
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