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Wyświetlanie 1-86 z 86
Tytuł :
Reldesemtiv in Patients with Spinal Muscular Atrophy: a Phase 2 Hypothesis-Generating Study
Autorzy :
Rudnicki, Stacy A.
Andrews, Jinsy A.Aff2, Aff1
Duong, Tina
Cockroft, Bettina M.Aff4, Aff1
Malik, Fady I.
Meng, Lisa
Wei, Jenny
Wolff, Andrew A.
Genge, Angela
Johnson, Nicholas E.Aff6, Aff7
Tesi-Rocha, Carolina
Connolly, Anne M.Aff8, Aff9
Darras, Basil T.
Felice, Kevin
Shieh, Perry B.
Mah, Jean K.
Statland, Jeffrey
Campbell, Craig
Habib, Ali A.
Kuntz, Nancy L.
Oskoui, Maryam
Day, John W.
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Źródło :
Neurotherapeutics: The Journal of the American Society for Experimental Neurotherapeutics. :1-10
Czasopismo naukowe
Tytuł :
Estimating prevalence for limb-girdle muscular dystrophy based on public sequencing databases
Autorzy :
Liu, Wei
Pajusalu, SanderAff2, Aff3, Aff4
Lake, Nicole J.Aff2, Aff5
Zhou, Geyu
Ioannidis, NilahAff6, Aff7
Mittal, PlaviAff6, Aff8
Johnson, Nicholas E.
Weihl, Conrad C.
Williams, Bradley A.
Albrecht, Douglas E.
Rufibach, Laura E.
Lek, Monkol
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Źródło :
Genetics in Medicine: Official journal of the American College of Medical Genetics and Genomics. 21(11):2512-2520
Czasopismo naukowe
Tytuł :
The Evolution of Lightning Flash Density, Flash Size, and Flash Energy During Hurricane Dorian's (2019) Intensification and Weakening.
Autorzy :
Duran, Patrick
Schultz, Christopher J.
Bruning, Eric C.
Stevenson, Stephanie N.
PeQueen, David J.
Johnson, Nicholas E.
Allen, Roger E.
Smith, Matthew R.
LaFontaine, Frank J.
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Temat :
LIGHTNING
HURRICANE forecasting
HURRICANES
THUNDERSTORMS
TROPICAL cyclones
DENSITY
Źródło :
Geophysical Research Letters; 4/28/2021, Vol. 48 Issue 8, p1-11, 11p
Czasopismo naukowe
Tytuł :
12‐Month progression of motor and functional outcomes in congenital myotonic dystrophy.
Autorzy :
Quigg, Kellen H.
Berggren, Kiera N.
McIntyre, Melissa
Bates, Kameron
Salmin, Francesca
Casiraghi, Jacopo L.
DʼAmico, Adele
Astrea, Guja
Ricci, Federica
McKay, Marnee J.
Baldwin, Jennifer N.
Burns, Joshua
Campbell, Craig
Sansone, Valeria A.
Johnson, Nicholas E.
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Źródło :
Muscle & Nerve; Mar2021, Vol. 63 Issue 3, p384-391, 8p
Czasopismo naukowe
Tytuł :
Patient-Centered Therapy Development for Myotonic Dystrophy: Report of the Myotonic Dystrophy Foundation–Sponsored Workshop
Autorzy :
Hesterlee, Sharon
Amur, Shashi
Bain, Lisa J.
Carulli, John
Clarke, Sarah
Day, John W.
Gagnon, Cynthia
Hagerman, Katharine
Heatwole, Chad
Johnson, Nicholas E.
Moxley, III, Richard
Patel, Nikunj
Thornton, Charles
Kessel, Woodie
White, Molly
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Źródło :
Therapeutic Innovation & Regulatory Science. 51(4):516-522
Czasopismo naukowe
Tytuł :
How It Is: Intermedial Prose Performance and the 'Unperformable'.
Autorzy :
Johnson, Nicholas E.
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Źródło :
Samuel Beckett Today / Aujourd'hui; 2020, Vol. 32 Issue 1, p86-103, 18p
Czasopismo naukowe
Tytuł :
Same-day physical therapy consults in an outpatient neuromuscular disease physician clinic.
Autorzy :
Pucillo, Evan M.
Christensen-Mayer, Nancy
Poole, Shelly D.
Whitten, Denise M.
Freeman, Danielle
Bohe, Blake R.
Swensen, Brandon R.
Smith, A. Gordon
Johnson, Nicholas E.
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Temat :
PHYSICAL therapy
NEUROMUSCULAR diseases
PATIENT satisfaction
MEDICAL care
MEDICAL consultation
THERAPEUTICS
Źródło :
Journal of Multidisciplinary Healthcare; Oct2016, Vol. 9, p493-497, 5p
Czasopismo naukowe
Tytuł :
High throughput screening for expanded CTG repeats in myotonic dystrophy type 1 using melt curve analysis.
Autorzy :
Butterfield, Russell J. (AUTHOR)
Imburgia, Carina (AUTHOR)
Mayne, Katie (AUTHOR)
Newcomb, Tara (AUTHOR)
Dunn, Diane M. (AUTHOR)
Duval, Brett (AUTHOR)
Feldkamp, Marcia L. (AUTHOR)
Johnson, Nicholas E. (AUTHOR)
Weiss, Robert B. (AUTHOR)
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Źródło :
Molecular Genetics & Genomic Medicine. Feb2021, p1. 14p. 7 Illustrations, 2 Charts.
Czasopismo naukowe
Tytuł :
Reldesemtiv in Patients with Spinal Muscular Atrophy: a Phase 2 Hypothesis-Generating Study.
Autorzy :
Rudnicki SA; Cytokinetics, Incorporated, South San Francisco, CA, USA.
Andrews JA; Cytokinetics, Incorporated, South San Francisco, CA, USA.; Columbia University, New York, NY, USA.
Duong T; Stanford University, Stanford, CA, USA.
Cockroft BM; Cytokinetics, Incorporated, South San Francisco, CA, USA.; Sangamo Therapeutics, Brisbane, CA, USA.
Malik FI; Cytokinetics, Incorporated, South San Francisco, CA, USA.
Meng L; Cytokinetics, Incorporated, South San Francisco, CA, USA.
Wei J; Cytokinetics, Incorporated, South San Francisco, CA, USA.
Wolff AA; Cytokinetics, Incorporated, South San Francisco, CA, USA.
Genge A; Montreal Neurological Institute, Montreal, QC, Canada.
Johnson NE; Virginia Commonwealth University, Richmond, VA, USA.; University of Utah, Salt Lake City, UT, USA.
Tesi-Rocha C; Stanford University, Stanford, CA, USA.
Connolly AM; Nationwide Children's Hospital, Columbus, OH, USA.; Washington University, St Louis, MO, USA.
Darras BT; Boston Children's Hospital and Harvard Medical School, Boston, MA, USA.
Felice K; Hospital for Special Care, New Britain, CT, USA.
Shieh PB; University of California, Los Angeles, Los Angeles, CA, USA.
Mah JK; University of Calgary, Alberta Children's Hospital, Calgary, AB, Canada.
Statland J; University of Kansas, Lawrence, KS, USA.
Campbell C; Department of Pediatrics, Epidemiology and Clinical Neurological Sciences, University of Western Ontario, London Health Sciences Centre, London, ON, Canada.
Habib AA; University of California, Irvine, Orange, CA, USA.
Kuntz NL; Ann & Robert H. Lurie Children's Hospital of Chicago, Chicago, IL, USA.
Oskoui M; McGill University Health Centre Research Institute, Montreal, QC, Canada.
Day JW; Stanford University, Stanford, CA, USA. .
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Źródło :
Neurotherapeutics : the journal of the American Society for Experimental NeuroTherapeutics [Neurotherapeutics] 2021 Feb 23. Date of Electronic Publication: 2021 Feb 23.
Typ publikacji :
Journal Article
Czasopismo naukowe
Tytuł :
Myotonic Muscular Dystrophies.
Autorzy :
Johnson NE
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Źródło :
Continuum (Minneapolis, Minn.) [Continuum (Minneap Minn)] 2019 Dec; Vol. 25 (6), pp. 1682-1695.
Typ publikacji :
Case Reports; Journal Article; Review
MeSH Terms :
Myotonic Dystrophy*/diagnosis
Myotonic Dystrophy*/genetics
Myotonic Dystrophy*/physiopathology
Myotonic Dystrophy*/therapy
Adult ; Female ; Humans ; Infant, Newborn ; Male ; Middle Aged
Czasopismo naukowe
Tytuł :
Estimating prevalence for limb-girdle muscular dystrophy based on public sequencing databases.
Autorzy :
Liu W; Program of Computational Biology and Bioinformatics, Yale University, New Haven, CT, USA.
Pajusalu S; Department of Genetics, Yale School of Medicine, New Haven, CT, USA.; Department of Clinical Genetics, Institute of Clinical Medicine, University of Tartu, Tartu, Estonia.; Department of Clinical Genetics, United Laboratories, Tartu University Hospital, Tartu, Estonia.
Lake NJ; Department of Genetics, Yale School of Medicine, New Haven, CT, USA.; Murdoch Children's Research Institute, Royal Children's Hospital, Melbourne, Australia.
Zhou G; Program of Computational Biology and Bioinformatics, Yale University, New Haven, CT, USA.
Ioannidis N; Jain Foundation, Seattle, WA, USA.; Department of Biomedical Data Science, Stanford University School of Medicine, Stanford, CA, USA.
Mittal P; Jain Foundation, Seattle, WA, USA.; In-Depth Genomics, Bellevue, WA, USA.
Johnson NE; Department of Neurology, Virginia Commonwealth University, Richmond, VA, USA.
Weihl CC; Department of Neurology, Washington University School of Medicine, St. Louis,, MO, USA.
Williams BA; Jain Foundation, Seattle, WA, USA.
Albrecht DE; Jain Foundation, Seattle, WA, USA.
Rufibach LE; Jain Foundation, Seattle, WA, USA.
Lek M; Department of Genetics, Yale School of Medicine, New Haven, CT, USA. .
Pokaż więcej
Źródło :
Genetics in medicine : official journal of the American College of Medical Genetics [Genet Med] 2019 Nov; Vol. 21 (11), pp. 2512-2520. Date of Electronic Publication: 2019 May 20.
Typ publikacji :
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms :
Muscular Dystrophies, Limb-Girdle/*epidemiology
Muscular Dystrophies, Limb-Girdle/*genetics
Bayes Theorem ; Chromosome Mapping ; Databases, Genetic ; Exome ; Female ; Humans ; Male ; Mutation ; Prevalence
Czasopismo naukowe
Tytuł :
Whole-exome sequencing in neurologic practice: Reducing the diagnostic odyssey.
Autorzy :
Johnson NE; Department of Neurology, University of Utah, Salt Lake City.
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Źródło :
Neurology. Genetics [Neurol Genet] 2015 Dec 24; Vol. 1 (4), pp. e37. Date of Electronic Publication: 2015 Dec 24 (Print Publication: 2015).
Typ publikacji :
Journal Article
Czasopismo naukowe
Tytuł :
Patient identification of the symptomatic impact of charcot-marie-tooth disease type 1A.
Autorzy :
Johnson NE; Department of Neurology, University of Rochester Medical Center, Rochester, NY 44642, USA. />Heatwole CR
Ferguson M
Sowden JE
Jeanat S
Herrmann DN
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Źródło :
Journal of clinical neuromuscular disease [J Clin Neuromuscul Dis] 2013 Sep; Vol. 15 (1), pp. 19-23.
Typ publikacji :
Journal Article; Research Support, N.I.H., Extramural
MeSH Terms :
Cost of Illness*
Charcot-Marie-Tooth Disease/*complications
Charcot-Marie-Tooth Disease/*psychology
Quality of Life/*psychology
Adult ; Aged ; Female ; Humans ; Male ; Middle Aged
Czasopismo naukowe
Tytuł :
Teaching video neuroimages: trapezius myotonia percussion sign in myotonic dystrophy type 2.
Autorzy :
Johnson NE; Department of Neurology, University of Rochester, Rochester, NY, USA. />Heatwole CR
Pokaż więcej
Źródło :
Neurology [Neurology] 2013 Jun 11; Vol. 80 (24), pp. e251.
Typ publikacji :
Journal Article
MeSH Terms :
Myotonia/*complications
Myotonia/*diagnosis
Myotonic Disorders/*complications
Myotonic Disorders/*diagnosis
Humans ; Myotonic Dystrophy
Czasopismo naukowe
Tytuł :
Patient-identified disease burden in facioscapulohumeral muscular dystrophy.
Autorzy :
Johnson NE; Department of Neurology, University of Rochester, 601 Elmwood Avenue, P.O. Box 673, Rochester, New York 14642, USA. />Quinn C
Eastwood E
Tawil R
Heatwole CR
Pokaż więcej
Źródło :
Muscle & nerve [Muscle Nerve] 2012 Dec; Vol. 46 (6), pp. 951-3.
Typ publikacji :
Journal Article
MeSH Terms :
Quality of Life*
Muscular Dystrophy, Facioscapulohumeral/*diagnosis
Muscular Dystrophy, Facioscapulohumeral/*epidemiology
Muscular Dystrophy, Facioscapulohumeral/*psychology
Adult ; Aged ; Female ; Humans ; Interview, Psychological ; Male ; Middle Aged ; Models, Psychological ; Muscular Dystrophy, Facioscapulohumeral/physiopathology ; Young Adult
Czasopismo naukowe
Tytuł :
Education research: neurology training reassessed. The 2011 American Academy of Neurology Resident Survey results.
Autorzy :
Johnson NE; Department of Neurology, University of Rochester Medical Center, Rochester, NY, USA. />Maas MB
Coleman M
Jozefowicz R
Engstrom J
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Źródło :
Neurology [Neurology] 2012 Oct 23; Vol. 79 (17), pp. 1831-4.
Typ publikacji :
Comparative Study; Journal Article
MeSH Terms :
Internship and Residency*/organization & administration
Internship and Residency*/trends
Neurology*/education
Neurology*/trends
Neurosciences/*education
Adult ; Data Collection ; Female ; Humans ; Male ; Neurosciences/trends ; United States ; Workforce
Czasopismo naukowe
Tytuł :
Myotonic dystrophy: from bench to bedside.
Autorzy :
Johnson NE; Department of Neurology, University of Rochester, Rochester, New York 14642, USA. />Heatwole CR
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Źródło :
Seminars in neurology [Semin Neurol] 2012 Jul; Vol. 32 (3), pp. 246-54. Date of Electronic Publication: 2012 Nov 01.
Typ publikacji :
Journal Article; Review
MeSH Terms :
Myotonic Dystrophy/*therapy
Female ; Genetic Counseling ; Humans ; Myotonic Dystrophy/classification ; Myotonic Dystrophy/diagnosis ; Myotonic Dystrophy/pathology ; Neoplasms/complications ; Neoplasms/epidemiology ; Pregnancy
Czasopismo naukowe
Tytuł :
Rapid resolution of severe neuralgic amyotrophy after treatment with corticosteroids and intravenous immunoglobulin.
Autorzy :
Johnson NE
Petraglia AL
Huang JH
Logigian EL
Pokaż więcej
Źródło :
Muscle & nerve [Muscle Nerve] 2011 Aug; Vol. 44 (2), pp. 304-5. Date of Electronic Publication: 2011 Jun 29.
Typ publikacji :
Case Reports; Letter
MeSH Terms :
Adrenal Cortex Hormones/*therapeutic use
Brachial Plexus Neuritis/*therapy
Immunoglobulins, Intravenous/*therapeutic use
Humans ; Male ; Middle Aged ; Treatment Outcome
Raport
    Wyświetlanie 1-86 z 86

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