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Rasch Analysis of the Pediatric Quality of Life Inventory 4.0 Generic Core Scales Administered to Patients With Duchenne Muscular Dystrophy

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

Antiretroviral Therapy-Associated Acute Motor and Sensory Axonal Neuropathy

Autor: Kimberly N. Capers, Sinan Turnacioglu, Robert T. Leshner, John R. Crawford

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

Clinical, genetic, and pathologic characterization of FKRP Mexican founder mutation c.1387A>G

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

The quick motor function test: a new tool to rate clinical severity and motor function in Pompe patients

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

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