Cargando…

Nutritional Status Evaluation in Patients Affected by Bethlem Myopathy and Ullrich Congenital Muscular Dystrophy

Collagen VI mutations lead to disabling myopathies like Bethlem myopathy (BM) and Ullrich congenital muscular dystrophy (UCMD). We have investigated the nutritional and metabolic status of one UCMD and seven BM patients (five female, three male, mean age 31 ± 9 years) in order to find a potential me...

Descripción completa

Detalles Bibliográficos
Autores principales:	Toni, Silvia, Morandi, Riccardo, Busacchi, Marcello, Tardini, Lucia, Merlini, Luciano, Battistini, Nino Carlo, Pellegrini, Massimo
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Frontiers Media S.A. 2014
Materias:	Neuroscience
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4235079/ https://www.ncbi.nlm.nih.gov/pubmed/25477818 http://dx.doi.org/10.3389/fnagi.2014.00315

Ejemplares similares

Body Composition, Muscle Strength, and Physical Function of Patients with Bethlem Myopathy and Ullrich Congenital Muscular Dystrophy
por: Miscione, Maria Teresa, et al.
Publicado: (2013)

Melanocytes from Patients Affected by Ullrich Congenital Muscular Dystrophy and Bethlem Myopathy have Dysfunctional Mitochondria That Can be Rescued with Cyclophilin Inhibitors
por: Zulian, Alessandra, et al.
Publicado: (2014)

Tendon Extracellular Matrix Alterations in Ullrich Congenital Muscular Dystrophy
por: Sardone, Francesca, et al.
Publicado: (2016)

Cyclosporine A in Ullrich Congenital Muscular Dystrophy: Long-Term Results
por: Merlini, Luciano, et al.
Publicado: (2011)

Early Morphological Changes of the Rectus Femoris Muscle and Deep Fascia in Ullrich Congenital Muscular Dystrophy
por: Sabatelli, Patrizia, et al.
Publicado: (2022)

Overexpression of miR-29 Leads to Myopathy that Resemble Pathology of Ullrich Congenital Muscular Dystrophy
por: Liu, Chuncheng, et al.
Publicado: (2019)

Ullrich Congenital Muscular Dystrophy (UCMD): Clinical and Genetic Correlations
por: BOZORGMEHR, Bita, et al.
Publicado: (2013)

Two closely spaced mutations in cis result in Ullrich congenital muscular dystrophy
por: Shimomura, Hideki, et al.
Publicado: (2019)

Clinical manifestations and prenatal diagnosis of Ullrich congenital muscular dystrophy: A case report
por: Hu, Jun, et al.
Publicado: (2022)

The Use of Autologous Blood Patch in Ullrich Muscular Dystrophy and Recurrent Pneumothorax
por: Navas Nazario, Aledie, et al.
Publicado: (2022)

Collagen-VI supplementation by cell transplantation improves muscle regeneration in Ullrich congenital muscular dystrophy model mice
por: Takenaka-Ninagawa, Nana, et al.
Publicado: (2021)

Ullrich Congenital Muscular Dystrophy Possibly Related With COL6A1 p.Gly302Arg Variant
por: Park, Yoonhong, et al.
Publicado: (2014)

Allele-specific Gene Silencing of Mutant mRNA Restores Cellular Function in Ullrich Congenital Muscular Dystrophy Fibroblasts
por: Noguchi, Satoru, et al.
Publicado: (2014)

Transcriptome Analysis of Ullrich Congenital Muscular Dystrophy Fibroblasts Reveals a Disease Extracellular Matrix Signature and Key Molecular Regulators
por: Paco, Sonia, et al.
Publicado: (2015)

Novel COL6A3 frameshift variant in American Staffordshire Terrier dogs with Ullrich‐like congenital muscular dystrophy
por: Jankelunas, Leanne, et al.
Publicado: (2023)

Bethlem myopathy: An autosomal dominant myopathy with flexion contractures, keloids, and follicular hyperkeratosis
por: Saroja, Aralikatte Onkarappa, et al.
Publicado: (2013)

A novel variant in the COL6A1 gene causing Ullrich congenital muscular dystrophy in a consanguineous family: a case report
por: Sirisena, Nirmala Dushyanthi, et al.
Publicado: (2021)

Autosomal dominant Ullrich congenital muscular dystrophy due to a de novo mutation in COL6A3 gene. A case report
por: Picillo, Esther, et al.
Publicado: (2022)

Transcriptome profiling of skeletal muscles from Korean patients with Bethlem myopathy
por: Lee, Seung-Ah, et al.
Publicado: (2023)

Ovine congenital progressive muscular dystrophy (OCPMD) is a model of TNNT1 congenital myopathy
por: Clayton, Joshua S., et al.
Publicado: (2020)

Gapmer Antisense Oligonucleotides Suppress the Mutant Allele of COL6A3 and Restore Functional Protein in Ullrich Muscular Dystrophy
por: Marrosu, Elena, et al.
Publicado: (2017)

A TALEN-Exon Skipping Design for a Bethlem Myopathy Model in Zebrafish
por: Radev, Zlatko, et al.
Publicado: (2015)

Genotype-Phenotype Correlation of the Childhood-Onset Bethlem Myopathy in the Mediterranean Region of Turkey
por: Kutluk, Muhammet G., et al.
Publicado: (2021)

Oculopharyngeal muscular dystrophy or oculopharyngeal distal myopathy: case report()
por: Maeda, Marilia Yuri, et al.
Publicado: (2015)

Improving clinical trial design for Duchenne muscular dystrophy
por: Merlini, Luciano, et al.
Publicado: (2015)

Sarcopenia and Sarcopenic Obesity in Patients with Muscular Dystrophy
por: Merlini, Luciano, et al.
Publicado: (2014)

The history of Bethlem
por: Scull, Andrew
Publicado: (1999)

Bethlem Hospital
Publicado: (1852)

Bethlem Hospital
Publicado: (1852)

Bethlem Hospital
Publicado: (1851)

Bethlem and Insanity
por: O'Donoghue, E. G.
Publicado: (1910)

Role of Immunoglobulins in Muscular Dystrophies and Inflammatory Myopathies
por: Farini, Andrea, et al.
Publicado: (2021)

Defining and identifying satellite cell-opathies within muscular dystrophies and myopathies
por: Ganassi, Massimo, et al.
Publicado: (2022)

Characterization of a rare case of Ullrich congenital muscular dystrophy due to truncating mutations within the COL6A1 gene C-Terminal domain: a case report
por: Martoni, Elena, et al.
Publicado: (2013)

Bethlem Hospital in 1852
Publicado: (1853)

The Removel of Bethlem Hospital
Publicado: (1924)

Congenital muscular dystrophy-associated inflammatory chemokines provide axes for effective recruitment of therapeutic adult stem cell into muscles
por: Alexeev, Vitali, et al.
Publicado: (2020)

siRNA-mediated Allele-specific Silencing of a COL6A3 Mutation in a Cellular Model of Dominant Ullrich Muscular Dystrophy
por: Bolduc, Véronique, et al.
Publicado: (2014)

Fukuyama Congenital Muscular Dystrophy
por: Agarwal, Amit, et al.
Publicado: (2022)

COL6A1 mutation leading to Bethlem myopathy with recurrent hematuria: a case report
por: Bao, Mengxin, et al.
Publicado: (2019)

Cannot write session to /tmp/vufind_sessions/sess_5fifdpvprv5ehhdflmk0h0v6cg