Zobrazeno 1 - 8
of 8
pro vyhledávání: '"Allen Reha"'
Autor:
Dedee F. Murrell, Amy S. Paller, Christine Bodemer, John Browning, Milos Nikolic, Jay A. Barth, Hjalmar Lagast, Eva Krusinska, Allen Reha, on behalf of the ESSENCE Study Group
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 15, Iss 1, Pp 1-10 (2020)
Abstract Background Chronic wounds are a fundamental issue for patients with epidermolysis bullosa (EB). Herein, we assess the natural history of wound closure in patients with EB who were randomly assigned to the vehicle-control arm of the multicent
Externí odkaz:
https://doaj.org/article/592da268b4eb4ad3aba28b1fc5ca0fbe
Autor:
Amy S. Paller, John Browning, Milos Nikolic, Christine Bodemer, Dedee F. Murrell, Willistine Lenon, Eva Krusinska, Allen Reha, Hjalmar Lagast, Jay A. Barth, on behalf of the ESSENCE Study Group
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 15, Iss 1, Pp 1-11 (2020)
Abstract Background Epidermolysis bullosa (EB) is a rare genetic disorder that manifests as blistering and/or skin erosion. There is no approved treatment for EB; current standard of care consists of wound and pain management. SD-101 6% is a topical
Externí odkaz:
https://doaj.org/article/d6665b0ec6604703b6d65a0c5a40ae7f
Autor:
Anna L. Bruckner, Michael Losow, Jayson Wisk, Nita Patel, Allen Reha, Hjalmar Lagast, Jamie Gault, Jayne Gershkowitz, Brett Kopelan, Michael Hund, Dedee F. Murrell
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 15, Iss 1, Pp 1-14 (2020)
Abstract Background Little information is available regarding the burden of living with and managing epidermolysis bullosa, including the distinct challenges faced by patients with different disease types/subtypes. Methods A 90-question/item survey w
Externí odkaz:
https://doaj.org/article/966cbe75704c431bbb56ca4693a25b76
Autor:
Richard S Finkel, Kevin M Flanigan, Brenda Wong, Carsten Bönnemann, Jacinda Sampson, H Lee Sweeney, Allen Reha, Valerie J Northcutt, Gary Elfring, Jay Barth, Stuart W Peltz
Publikováno v:
PLoS ONE, Vol 8, Iss 12, p e81302 (2013)
Approximately 13% of boys with Duchenne muscular dystrophy (DMD) have a nonsense mutation in the dystrophin gene, resulting in a premature stop codon in the corresponding mRNA and failure to generate a functional protein. Ataluren (PTC124) enables ri
Externí odkaz:
https://doaj.org/article/4c1bae3ea78f472c888682ca55235a59
Autor:
Katharine, Bushby, Richard, Finkel, Brenda, Wong, Richard, Barohn, Craig, Campbell, Giacomo P, Comi, Anne M, Connolly, John W, Day, Kevin M, Flanigan, Nathalie, Goemans, Kristi J, Jones, Eugenio, Mercuri, Ros, Quinlivan, James B, Renfroe, Barry, Russman, Monique M, Ryan, Mar, Tulinius, Thomas, Voit, Steven A, Moore, H, Lee Sweeney, Richard T, Abresch, Kim L, Coleman, Michelle, Eagle, Julaine, Florence, Eduard, Gappmaier, Allan M, Glanzman, Erik, Henricson, Jay, Barth, Gary L, Elfring, Allen, Reha, Robert J, Spiegel, Michael W, O'donnell, Stuart W, Peltz, Craig M, Mcdonald, Kathleen, Ollendick
Publikováno v:
Paediatrics Publications
Muscle & Nerve
Muscle & Nerve
Introduction: Dystrophinopathy is a rare, severe muscle disorder, and nonsense mutations are found in 13% of cases. Ataluren was developed to enable ribosomal readthrough of premature stop codons in nonsense mutation (nm) genetic disorders. Methods:
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0578329d6b528d6b608a1d76377c5da7
https://doi.org/10.1002/mus.24332
https://doi.org/10.1002/mus.24332
Autor:
Robert C, Griggs, Barbara E, Herr, Allen, Reha, Gary, Elfring, Leone, Atkinson, Valerie, Cwik, Elaine, McColl, Rabi, Tawil, Shree, Pandya, Michael P, McDermott, Kate, Bushby
Publikováno v:
Musclenerve. 48(1)
In 2004, a Cochrane Review and AAN practice parameter concluded that prednisone 0.75 mg/kg/day is of short-term efficacy in Duchenne muscular dystrophy (DMD). Subsequent efforts to standardize care for DMD indicated wide variation in corticosteroid u
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::701adb810e15d34e4d23deba9053dba9
https://pubmed.ncbi.nlm.nih.gov/23483575
https://pubmed.ncbi.nlm.nih.gov/23483575
Autor:
Craig M, McDonald, Erik K, Henricson, Jay J, Han, R Ted, Abresch, Alina, Nicorici, Gary L, Elfring, Leone, Atkinson, Allen, Reha, Samit, Hirawat, Langdon L, Miller
Publikováno v:
Musclenerve. 41(4)
Walking abnormalities are prominent in Duchenne muscular dystrophy (DMD). We modified the 6-minute walk test (6MWT) for use as an outcome measure in patients with DMD and evaluated its performance in 21 ambulatory boys with DMD and 34 healthy boys, a
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::f498e4507e5a9942236fe137c84c0fa2
https://pubmed.ncbi.nlm.nih.gov/19941337
https://pubmed.ncbi.nlm.nih.gov/19941337
Publikováno v:
Endocrine Practice. 12:59
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::d2abc1548283356d4b44c489962a82b6
https://doi.org/10.1016/s1530-891x(20)44043-1
https://doi.org/10.1016/s1530-891x(20)44043-1