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Wyświetlanie 1-20 z 140
Tytuł:
Genetic Patterns of Selected Muscular Dystrophies in the Muscular Dystrophy Surveillance, Tracking, and Research Network.
Autorzy:
Kang, Peter B.
Jorand-Fletcher, Magali
Wanfang Zhang
McDermott, Suzanne W.
Berry, Reba
Chambers, Chelsea
Wong, Kristen N.
Mohamed, Yara
Thomas, Shiny
Venkatesh, Y. Swamy
Westfield, Christina
Whitehead, Nedra
Johnson, Nicholas E.
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Źródło:
Neurology: Genetics; Dec2023, Vol. 9 Issue 6, p1-10, 10p
Czasopismo naukowe
Szczegóły
Tytuł:
Selected clinical and demographic factors and all-cause mortality among individuals with Duchenne muscular dystrophy in the Muscular Dystrophy Surveillance, Tracking, and Research Network.
Autorzy:
Paramsothy, Pangaja (AUTHOR)
Wang, Yinding (AUTHOR)
Cai, Bo (AUTHOR)
Conway, Kristin M. (AUTHOR)
Johnson, Nicholas E. (AUTHOR)
Pandya, Shree (AUTHOR)
Ciafaloni, Emma (AUTHOR)
Mathews, Katherine D. (AUTHOR)
Romitti, Paul A. (AUTHOR)
Howard, James F. (AUTHOR)
Riley, Catharine (AUTHOR)
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Źródło:
Neuromuscular Disorders. Jun2022, Vol. 32 Issue 6, p468-476. 9p.
Czasopismo naukowe
Szczegóły
Tytuł:
Patient reported quality of life in limb girdle muscular dystrophy.
Autorzy:
Kovalchick, Laurel V (AUTHOR)
Bates, Kameron (AUTHOR)
Statland, Jeffrey (AUTHOR)
Weihl, Conrad (AUTHOR)
Kang, Peter B (AUTHOR)
Lowes, Linda P (AUTHOR)
Mozaffar, Tahseen (AUTHOR)
Straub, Volker (AUTHOR)
Wicklund, Matthew (AUTHOR)
Heatwole, Chad (AUTHOR)
Johnson, Nicholas E (AUTHOR) Nicholas.johnson@vcuhealth.org
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Źródło:
Neuromuscular Disorders. Jan2022, Vol. 32 Issue 1, p57-64. 8p.
Czasopismo naukowe
Szczegóły
Tytuł:
Correction to: Reldesemtiv in Patients with Spinal Muscular Atrophy: a Phase 2 Hypothesis-Generating Study.
Autorzy:
Rudnicki, Stacy A.
Andrews, Jinsy A.
Duong, Tina
Cockroft, Bettina M.
Malik, Fady I.
Meng, Lisa
Wei, Jenny
Wolff, Andrew A.
Genge, Angela
Johnson, Nicholas E.
Tesi-Rocha, Carolina
Connolly, Anne M.
Darras, Basil T.
Felice, Kevin
Finkel, Richard S.
Shieh, Perry B.
Mah, Jean K.
Statland, Jeffrey
Campbell, Craig
Habib, Ali A.
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Źródło:
Neurotherapeutics; Jul2021, Vol. 18 Issue 3, p2130-2130, 1p
Czasopismo naukowe
Szczegóły
Tytuł:
High throughput screening for expanded CTG repeats in myotonic dystrophy type 1 using melt curve analysis.
Autorzy:
Butterfield RJ; Department of Pediatrics, University of Utah, Salt Lake City, Utah, USA.; Department of Neurology, University of Utah, Salt Lake City, Utah, USA.
Imburgia C; Department of Pediatrics, University of Utah, Salt Lake City, Utah, USA.
Mayne K; Department of Pediatrics, University of Utah, Salt Lake City, Utah, USA.
Newcomb T; Department of Pediatrics, University of Utah, Salt Lake City, Utah, USA.
Dunn DM; Department of Human Genetics, University of Utah, Salt Lake City, Utah, USA.
Duval B; Department of Human Genetics, University of Utah, Salt Lake City, Utah, USA.
Feldkamp ML; Department of Pediatrics, University of Utah, Salt Lake City, Utah, USA.
Johnson NE; Department of Neurology, Virginia Commonwealth University, Richmond, Virginia, USA.
Weiss RB; Department of Human Genetics, University of Utah, Salt Lake City, Utah, USA.
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Źródło:
Molecular genetics & genomic medicine [Mol Genet Genomic Med] 2021 Apr; Vol. 9 (4), pp. e1619. Date of Electronic Publication: 2021 Feb 24.
Typ publikacji:
Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't; Research Support, U.S. Gov't, P.H.S.
MeSH Terms:
Nucleic Acid Denaturation*
Trinucleotide Repeat Expansion*
High-Throughput Screening Assays/*methods
Molecular Diagnostic Techniques/*methods
Myotonic Dystrophy/*diagnosis
Costs and Cost Analysis ; High-Throughput Screening Assays/economics ; High-Throughput Screening Assays/standards ; Humans ; Molecular Diagnostic Techniques/economics ; Molecular Diagnostic Techniques/standards ; Myotonic Dystrophy/genetics ; Sensitivity and Specificity
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknieSzczegóły
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
Szczegóły
Tytuł:
Phenotypic diversity in an international Cure VCP Disease registry.
Autorzy:
Ikenaga C; Department of Neurology, Washington University School of Medicine, 660 S. Euclid Avenue, Box 8111, Saint Louis, MO, 63110, USA.
Findlay AR; Department of Neurology, Washington University School of Medicine, 660 S. Euclid Avenue, Box 8111, Saint Louis, MO, 63110, USA.
Seiffert M; Department of Neurology, Washington University School of Medicine, 660 S. Euclid Avenue, Box 8111, Saint Louis, MO, 63110, USA.
Peck A; Cure VCP Disease, Inc., Americus, GA, USA.
Peck N; Cure VCP Disease, Inc., Americus, GA, USA.
Johnson NE; Department of Neurology, Virginia Commonwealth University, Richmond, VA, USA.
Statland JM; Department of Neurology, University of Kansas, Medical Center, Kansas City, KS, USA.
Weihl CC; Department of Neurology, Washington University School of Medicine, 660 S. Euclid Avenue, Box 8111, Saint Louis, MO, 63110, USA. .
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Źródło:
Orphanet journal of rare diseases [Orphanet J Rare Dis] 2020 Sep 29; Vol. 15 (1), pp. 267. Date of Electronic Publication: 2020 Sep 29.
Typ publikacji:
Journal Article; Research Support, N.I.H., Extramural
MeSH Terms:
Frontotemporal Dementia*
Myositis, Inclusion Body*/genetics
Osteitis Deformans*/genetics
Adult ; Female ; Humans ; Male ; Mutation/genetics ; Phenotype ; Quality of Life ; Registries ; Valosin Containing Protein/genetics
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
Validation of the Italian version of the Charcot-Marie-Tooth Health Index.
Autorzy:
Pisciotta C; Unit of Rare Neurodegenerative and Neurometabolic Diseases, Department of Clinical Neurosciences, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy.
Ciafaloni E; Department of Neurology, University of Rochester, Rochester, New York, USA.
Zuccarino R; Department of Neurology, University of Iowa Carver College of Medicine, Iowa City, Iowa, USA.; Neuromuscular Omnicentre-Fondazione Serena Onlus, Arenzano, Italy.
Calabrese D; Unit of Rare Neurodegenerative and Neurometabolic Diseases, Department of Clinical Neurosciences, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy.
Saveri P; Unit of Rare Neurodegenerative and Neurometabolic Diseases, Department of Clinical Neurosciences, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy.
Fenu S; Unit of Rare Neurodegenerative and Neurometabolic Diseases, Department of Clinical Neurosciences, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy.
Tramacere I; Unit of Rare Neurodegenerative and Neurometabolic Diseases, Department of Clinical Neurosciences, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy.
Genovese F; ACMT-Rete per la malattia di Charcot-Marie-Tooth, OdV, Bologna, Italy.
Dilek N; Department of Neurology, University of Rochester, Rochester, New York, USA.
Johnson NE; Department of Neurology, Virginia Commonwealth University, Richmond, Virginia, USA.
Heatwole C; Department of Neurology, University of Rochester, Rochester, New York, USA.; Center for Health and Technology, University of Rochester, Rochester, New York, USA.
Herrmann DN; Department of Neurology, University of Rochester, Rochester, New York, USA.
Pareyson D; Unit of Rare Neurodegenerative and Neurometabolic Diseases, Department of Clinical Neurosciences, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy.
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Corporate Authors:
ACT-CMT Study Group
Źródło:
Journal of the peripheral nervous system : JPNS [J Peripher Nerv Syst] 2020 Sep; Vol. 25 (3), pp. 292-296. Date of Electronic Publication: 2020 Jun 24.
Typ publikacji:
Journal Article; Research Support, N.I.H., Extramural; Validation Study
MeSH Terms:
Patient Reported Outcome Measures*
Severity of Illness Index*
Charcot-Marie-Tooth Disease/*diagnosis
Psychometrics/*standards
Adolescent ; Adult ; Aged ; Aged, 80 and over ; Female ; Humans ; Italy ; Male ; Psychometrics/methods ; Reproducibility of Results ; Young Adult
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
Clinical trial readiness to solve barriers to drug development in FSHD (ReSolve): protocol of a large, international, multi-center prospective study.
Autorzy:
LoRusso S; Department of Neurology, Ohio State University Wexner Medical Center, 395 W. 12th Ave., 7th Floor, Columbus, OH, 43210, USA.
Johnson NE; Department of Neurology, Virginia Commonwealth University, 1101 East Marshall St, PO Box 980599, Richmond, VA, 23298, USA.
McDermott MP; Department of Biostatistics and Computational Biology and Department of Neurology, University of Rochester Medical Center, 265 Crittenden Blvd., CU 420630, Rochester, NY, 14642, USA.
Eichinger K; Department of Neurology, University of Rochester Medical Center, Box 673, 601 Elmwood Ave, Rochester, NY, 14642, USA.
Butterfield RJ; Department of Pediatrics and Neurology, University of Utah, Eccles Institute of Human Genetics, Room 2260A, 15 N 2030 E, Salt Lake City, UT, 84112, USA.
Carraro E; The NEMO Clinical Center, Neurorehabilitation Unit, University of Milan, Piazza dell'Ospedale Maggiore, 3, Milan, 20162, Italy.
Higgs K; Department of Neurology, University of Kansas Medical Center, 3901 Rainbow Blvd, MS 2012, Kansas City, KS, 66160, USA.
Lewis L; Department of Neurology, University of Rochester Medical Center, Box 673, 601 Elmwood Ave, Rochester, NY, 14642, USA.
Mul K; Department of Neurology, Radboud University Medical Center, Reinier Postlaan 4 (935), 6525, GC, Nijmegen, The Netherlands.
Sacconi S; Université Côte d'Azur, Peripheral Nervous System, Centre Hospitalier Universitaire de Nice, Muscle & ALS Department, Pasteur 2 Hospital, 30 Voie Romaine, 06001, Nice Cedex 1, France.
Sansone VA; The NEMO Clinical Center, Neurorehabilitation Unit, University of Milan, Piazza dell'Ospedale Maggiore, 3, Milan, 20162, Italy.
Shieh P; Department of Neurology, University of California, Los Angeles, 300 Medical Plaza, Suite B-200, Los Angeles, CA, 90095, USA.
van Engelen B; Department of Neurology, Radboud University Medical Center, Reinier Postlaan 4 (935), 6525, GC, Nijmegen, The Netherlands.
Wagner K; Center for Genetic Muscle Disorders, Kennedy Krieger Institute, 707 N. Broadway, Baltimore, MD, USA.
Wang L; Department of Neurology, University of Washington, 1959 NE Pacific St, Seattle, WA, 98195, USA.
Statland JM; Department of Neurology, University of Kansas Medical Center, 3901 Rainbow Blvd, MS 2012, Kansas City, KS, 66160, USA. .
Tawil R; Department of Neurology, University of Rochester Medical Center, Box 673, 601 Elmwood Ave, Rochester, NY, 14642, USA.
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Corporate Authors:
ReSolve Investigators and the FSHD CTRN18
Źródło:
BMC neurology [BMC Neurol] 2019 Sep 10; Vol. 19 (1), pp. 224. Date of Electronic Publication: 2019 Sep 10.
Typ publikacji:
Clinical Trial Protocol; Journal Article; Multicenter Study
MeSH Terms:
Drug Development/*methods
Muscular Dystrophy, Facioscapulohumeral/*drug therapy
Biomarkers/metabolism ; Disease Progression ; Electromyography ; Humans ; Longitudinal Studies ; Muscular Dystrophy, Facioscapulohumeral/genetics ; Prospective Studies ; Reproducibility of Results
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Wyświetlanie 1-20 z 140

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