Cargando…

CLIA Laboratory Testing for Facioscapulohumeral Dystrophy: A Retrospective Analysis

OBJECTIVE: To summarize facioscapulohumeral muscular dystrophy (FSHD) diagnostic testing results from the University of Iowa Molecular Pathology Laboratory. METHODS: All FSHD tests performed in the diagnostic laboratory from January 2015 to July 2019 were retrospectively reviewed. Testing was by res...

Descripción completa

Detalles Bibliográficos
Autores principales:	Rieken, Autumn, Bossler, Aaron D., Mathews, Katherine D., Moore, Steven A.
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Lippincott Williams & Wilkins 2021
Materias:	Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8055331/ https://www.ncbi.nlm.nih.gov/pubmed/33443126 http://dx.doi.org/10.1212/WNL.0000000000011412

Ejemplares similares

Ophthalmological findings in facioscapulohumeral dystrophy
por: Goselink, Rianne J M, et al.
Publicado: (2019)

Evaluation of the Chagas VirClia(®) and Chagas TESA VirClia(®) for the Diagnosis of Trypanosoma cruzi Infection
por: García-Bermejo, Isabel, et al.
Publicado: (2022)

Facioscapulohumeral muscular dystrophy: Are telomeres the end of the story?
por: Stadler, Guido, et al.
Publicado: (2013)

Characterizing the face in facioscapulohumeral muscular dystrophy
por: Loonen, T. G. J., et al.
Publicado: (2020)

The socioeconomic burden of facioscapulohumeral muscular dystrophy
por: Blokhuis, Anna M., et al.
Publicado: (2021)

Treatment of facioscapulohumeral muscular dystrophy with Denosumab
por: Lefkowitz, Stanley S., et al.
Publicado: (2012)

Facioscapulohumeral dystrophy: the path to consensus on pathophysiology
por: Tawil, Rabi, et al.
Publicado: (2014)

Sarcopenic Obesity in Facioscapulohumeral Muscular Dystrophy
por: Vera, Kathryn, et al.
Publicado: (2020)

Baroreflex sensitivity in facioscapulohumeral muscular dystrophy
por: Anselmo, Miguel, et al.
Publicado: (2022)

An integrated approach in a case of facioscapulohumeral dystrophy
por: Pasotti, Stefano, et al.
Publicado: (2014)

Cardiac Involvement in Facioscapulohumeral Muscular Dystrophy (FSHD)
por: Ducharme-Smith, Allison, et al.
Publicado: (2021)

Genetic Approaches for the Treatment of Facioscapulohumeral Muscular Dystrophy
por: Lim, Kenji Rowel Q., et al.
Publicado: (2021)

Cognitive profile of patients with facioscapulohumeral muscular dystrophy
por: dos Santos, Vanessa Brzoskowski, et al.
Publicado: (2021)

Elderly Onset of Weakness in Facioscapulohumeral Muscular Dystrophy
por: Fee, Dominic B.
Publicado: (2012)

Upper Girdle Imaging in Facioscapulohumeral Muscular Dystrophy
por: Tasca, Giorgio, et al.
Publicado: (2014)

Consequences of epigenetic derepression in facioscapulohumeral muscular dystrophy
por: Greco, Anna, et al.
Publicado: (2020)

Cellular and animal models for facioscapulohumeral muscular dystrophy
por: DeSimone, Alec M., et al.
Publicado: (2020)

Membrane Repair Deficit in Facioscapulohumeral Muscular Dystrophy
por: Bittel, Adam J., et al.
Publicado: (2020)

Corrigendum: Sarcopenic Obesity in Facioscapulohumeral Muscular Dystrophy
por: Vera, Kathryn, et al.
Publicado: (2022)

Gene Editing to Tackle Facioscapulohumeral Muscular Dystrophy
por: Mariot, Virginie, et al.
Publicado: (2022)

Nutritional Status of Patients with Facioscapulohumeral Muscular Dystrophy
por: Amzali, Sedda, et al.
Publicado: (2023)

CLIA-certified next-generation sequencing analysis in the cloud
por: Zhang, Ying, et al.
Publicado: (2012)

Buildout and integration of an automated high-throughput CLIA laboratory for SARS-CoV-2 testing on a large urban campus
por: Landaverde, Lena, et al.
Publicado: (2022)

Clinical and Genetic Analysis of Korean Patients with Facioscapulohumeral Muscular Dystrophy
por: Ki, Chang-Seok, et al.
Publicado: (2008)

Two Cases of Facioscapulohumeral Muscular Dystrophy 2 in Korea
por: Lee, Jung Hwan, et al.
Publicado: (2021)

Facioscapulohumeral Dystrophy: Incomplete Suppression of a Retrotransposed Gene
por: Snider, Lauren, et al.
Publicado: (2010)

Immunohistochemical Characterization of FacioscapulohumeralMuscular Dystrophy Muscle Biopsies
por: Statland, Jeffrey M., et al.
Publicado: (2015)

UK Facioscapulohumeral Muscular Dystrophy (FSHD) Patient Registry
por: Wood, Libby, et al.
Publicado: (2014)

Facioscapulohumeral Muscular Dystrophy: More Complex than it Appears
por: G, Ricci, et al.
Publicado: (2014)

The French National Registry of patients with Facioscapulohumeral muscular dystrophy
por: Guien, Céline, et al.
Publicado: (2018)

DUX4 Signalling in the Pathogenesis of Facioscapulohumeral Muscular Dystrophy
por: Lim, Kenji Rowel Q., et al.
Publicado: (2020)

Outcome Measures in Facioscapulohumeral Muscular Dystrophy Clinical Trials
por: Ghasemi, Mehdi, et al.
Publicado: (2022)

Speech and swallowing characteristics in patients with facioscapulohumeral muscular dystrophy
por: dos SANTOS, Vanessa Brzoskowski, et al.
Publicado: (2022)

Increased resistance towards fatigability in patients with facioscapulohumeral muscular dystrophy
por: Beretta-Piccoli, Matteo, et al.
Publicado: (2021)

Effective Classification and Gene Expression Profiling for the Facioscapulohumeral Muscular Dystrophy
por: González-Navarro, Félix F., et al.
Publicado: (2013)

Facioscapulohumeral muscular dystrophy and respiratory failure; what about the diaphragm?
por: Hazenberg, A., et al.
Publicado: (2014)

Facioscapulohumeral Muscular Dystrophy is Associated With Altered Myoblast Proteome Dynamics
por: Nishimura, Yusuke, et al.
Publicado: (2023)

Facioscapulohumeral Dystrophy in Childhood: A Nationwide Natural History Study
por: Goselink, Rianne J.M., et al.
Publicado: (2018)

Promising Perspective to Facioscapulohumeral Muscular Dystrophy Treatment: Nutraceuticals and Phytochemicals
por: Hangül, Ceren, et al.
Publicado: (2021)

Effects of training and albuterol on pain and fatigue in facioscapulohumeral muscular dystrophy
por: van der Kooi, E. L., et al.
Publicado: (2007)

Cannot write session to /tmp/vufind_sessions/sess_sfhf0chlrg085laaqmi5kho79k