Zobrazeno 1 - 10
of 56
pro vyhledávání: '"ROBERT T. LESHNER"'
Publikováno v:
Case Reports in Neurology, Vol 3, Iss 1, Pp 1-6 (2011)
Guillain-Barré syndrome (GBS) has been reported in HIV-infected patients in association with the immune reconstitution syndrome whose symptoms can be mimicked by highly active antiretroviral therapy (HAART)-mediated mitochondrial toxicity. We report
Externí odkaz:
https://doaj.org/article/0b2f1ec3214344ec80cde78b375ebdb1
Autor:
John W. Day, Mar Tulinius, Alan Pestronk, Tina Duong, Tulio E. Bertorini, Alberto Dubrovsky, Nanette C. Joyce, Anne M. Connolly, Hanna Kolski, Lauren P. Morgenroth, Hoda Abdel-Hamid, Ksenija Gorni, Craig M. McDonald, Erik K Henricson, Erik Landfeldt, Yoram Nevo, Jose Carlo, Sherilyn W. Driscoll, Laura McAdam, S. Chidambaranathan, Paula R. Clemens, Avital Cnaan, Jean Teasley, W. Douglas Biggar, Joel Iff, Andrew J. Kornberg, Nancy L. Kuntz, E. Henricson, Jean K. Mah, Carolina Tesi-Rocha, Robert T. Leshner, Mathula Thangarajh, Richard D. Webster, V. Vishwanathan, Monique M. Ryan, John B. Bodensteiner, Timothy Lotze, Richard T. Abresch, Peter I. Karachunski
Publikováno v:
Value Health
OBJECTIVES: The objective of this study was to examine the psychometric properties of the Pediatric Quality of Life Inventory 4.0 Generic Core Scales (PedsQL 4.0 GCS) in Duchenne muscular dystrophy (DMD), a rare, severely debilitating, and ultimately
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2dd36dd2d6151eb55eab84c122ed70a8
https://doi.org/10.1016/j.jval.2021.05.016
https://doi.org/10.1016/j.jval.2021.05.016
Autor:
Angela J, Lee, Karra A, Jones, Russell J, Butterfield, Mary O, Cox, Chamindra G, Konersman, Carla, Grosmann, Jose E, Abdenur, Monica, Boyer, Brent, Beson, Ching, Wang, James J, Dowling, Melissa A, Gibbons, Alison, Ballard, Joanne S, Janas, Robert T, Leshner, Sandra, Donkervoort, Carsten G, Bönnemann, Denise M, Malicki, Robert B, Weiss, Steven A, Moore, Katherine D, Mathews
Publikováno v:
Neurology: Genetics
Objective To characterize the clinical phenotype, genetic origin, and muscle pathology of patients with the FKRP c.1387A>G mutation. Methods Standardized clinical data were collected for all patients known to the authors with c.1387A>G mutations in F
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::f02e7767eb1112e84216fc04579a1132
https://pubmed.ncbi.nlm.nih.gov/31041397
https://pubmed.ncbi.nlm.nih.gov/31041397
Autor:
Carla Grosmann, Carsten G. Bönnemann, Mary O. Cox, Karra A. Jones, Joanne S. Janas, Melissa Gibbons, Robert T. Leshner, Ching Wang, James J. Dowling, Chamindra G. Konersman, Sandra Donkervoort, Monica Boyer, Alison Ballard, Brent Beson, Jose E. Abdenur, Russell J. Butterfield, Denise M. Malicki, Katherine D. Mathews, Robert B. Weiss, Angela J. Lee, Steven A. Moore
Publikováno v:
Neurology Genetics. 5:e315
ObjectiveTo characterize the clinical phenotype, genetic origin, and muscle pathology of patients with the FKRP c.1387A>G mutation.MethodsStandardized clinical data were collected for all patients known to the authors with c.1387A>G mutations in FKRP
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::91d205e9e54e6636fba276908abbfcc2
https://doi.org/10.1212/nxg.0000000000000315
https://doi.org/10.1212/nxg.0000000000000315
Autor:
Tulio E. Bertorini, J. Mayhew, L. Mesa, Nancy L. Kuntz, Yoram Nevo, J. Mah, Anne M. Connolly, Carolina Tesi-Rocha, Paula R. Clemens, Erik K Henricson, Andrew J. Kornberg, Diana M. Escolar, J. Florence, Antonio Arrieta, Robert T. Leshner, A. Zimmerman, F. Hu, Lauren P. Hache, Sree Rayavarapu, Hanna Kolski, Ksenija Gorni, Kanneboyina Nagaraju
Publikováno v:
Neurology. 78:904-913
Objective: To determine whether pentoxifylline (PTX) slows the decline of muscle strength and function in ambulatory boys with Duchenne muscular dystrophy (DMD). Methods: This was a multicenter, randomized, double-blinded, controlled trial comparing
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fd969e8633edeea47d2ee31f47cdf71a
https://doi.org/10.1212/wnl.0b013e31824c46be
https://doi.org/10.1212/wnl.0b013e31824c46be
Autor:
Hugo J. Duivenvoorden, Pieter A. van Doorn, M.L.C. Hagemans, Juna M. de Vries, Nadine A. M. E. van der Beek, Ans T. van der Ploeg, Carine I. van Capelle, Robert T. Leshner
Publikováno v:
Journal of Inherited Metabolic Disease, 35, 317-323. Springer Netherlands
Journal of Inherited Metabolic Disease
Journal of Inherited Metabolic Disease; Vol 35
Journal of Inherited Metabolic Disease
Journal of Inherited Metabolic Disease; Vol 35
Pompe disease is a lysosomal storage disorder characterized by progressive muscle weakness. With the emergence of new treatment options, psychometrically robust outcome measures are needed to monitor patients’ clinical status. We constructed a moto
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::91e8d19b837e0773addcb793bfb7739f
https://doi.org/10.1007/s10545-011-9388-3
https://doi.org/10.1007/s10545-011-9388-3
Autor:
Gil I. Wolfe, John T. Kissel, Jay J. Han, Edward Cupler, Kenneth I. Berger, Richard J. Barohn, Robert T Leshner
Publikováno v:
Muscle & Nerve. 45:319-333
Introduction: Pompe disease is a rare, autosomal recessive disorder caused by deficiency of the glycogen-degrad- ing lysosomal enzyme acid alpha-glucosidase. Late-onset Pompe disease is a multisystem condition, with a heterogeneous clinical presentat
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::795b9d324d81209fe4689f49a0d270b1
https://doi.org/10.1002/mus.22329
https://doi.org/10.1002/mus.22329
Publikováno v:
Case Reports in Neurology
Case Reports in Neurology, Vol 3, Iss 1, Pp 1-6 (2011)
Case Reports in Neurology, Vol 3, Iss 1, Pp 1-6 (2011)
Guillain-Barre syndrome (GBS) has been reported in HIV-infected patients in association with the immune reconstitution syndrome whose symptoms can be mimicked by highly active antiretroviral therapy (HAART)-mediated mitochondrial toxicity. We report
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::31c4786f0271d33907ab32002db9b56a
http://europepmc.org/articles/PMC3037986
http://europepmc.org/articles/PMC3037986
Autor:
Xiaoli Zhang, Wendy King, Deborah F. Gelinas, Bakri Elsheikh, Robert G. Miller, Thomas W. Prior, Stephen J. Kolb, Richard J. Barohn, D. A N Moore, Jerry R. Mendell, Barry S. Russman, Walter G. Bradley, Susan T. Iannaccone, Michelle Mendoza, Stephen W. Smith, John T. Kissel, Wilson W. Bryan, Robert T. Leshner
Publikováno v:
Muscle & Nerve. 40:652-656
To evaluate the effect of SMN2 copy number on disease severity in spinal muscular atrophy (SMA), we stratified 45 adult SMA patients based on SMN2 copy number (3 vs. 4 copies). Patients with 3 copies had an earlier age of onset and lower spinal muscu
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e1d1a2c6fc06db6e976ce6e9a5e7844f
https://doi.org/10.1002/mus.21350
https://doi.org/10.1002/mus.21350
Publikováno v:
Developmental Medicine & Child Neurology. 28:310-313
SUMMARY Two children with Friedreich's ataxia and six controls matched for age and Verbal IQ were administered a measure of short-term memory scanning and tests of attention, memory, language and abstraction. The patients demonstrated a deficit in in
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1c897e12c961a331cdbff21e243fa257
https://doi.org/10.1111/j.1469-8749.1986.tb03878.x
https://doi.org/10.1111/j.1469-8749.1986.tb03878.x