Results 31 to 40 of about 56,560 (289)

Association of 4qA-Specific Distal D4Z4 Hypomethylation With Disease Severity and Progression in Facioscapulohumeral Muscular Dystrophy

Neurology, 2023
Background and Objectives The objective of this study was to examine whether the regional methylation levels at the most distal D4Z4 repeat units (RU) in the 4qA-permissive haplotype were associated with disease severity and progression in ...
Fu-ze Zheng, L. Qiu, Longquan Chen, Ying Zheng, Xiaodan Lin, Jun-jie He, Xin Lin, Qifang He, Yuhua Lin, Lin Lin, Lili Wang, F. Lin, Kang Yang, Min-ting Lin, Yi Lin, Ying Fu, Ning Wang, Zhiqiang Wang   +17 more
semanticscholar   +1 more source

Molecular Diagnosis of Facioscapulohumeral Muscular Dystrophy in Patients Clinically Suspected of FSHD Using Optical Genome Mapping

Neurology: Genetics, 2023
Background and Objectives Facioscapulohumeral muscular dystrophy (FSHD) represents the third most common muscular dystrophy in the general population and is characterized by progressive and often asymmetric muscle weakness of the face, upper extremities,
Naga M Guruju, Vanessa Jump, R. Lemmers, S. M. van der Maarel, Ruby Liu, B. Nallamilli, Suresh Shenoy, A. Chaubey, Pratik Koppikar, Rajiv Rose, Satish Khadilkar, Madhuri Hegde   +11 more
semanticscholar   +1 more source

The Facioscapulohumeral Muscular Dystrophy‐Health Index: Development and evaluation of a disease‐specific outcome measure

Muscle and Nerve, 2023
As promising therapeutic interventions are tested among patients with facioscapulohumeral muscular dystrophy (FSHD), there is a clear need for valid and reliable outcome tools to track disease progression and therapeutic gain in clinical trials and for ...
A. Varma, Jennifer Weinstein, J. Seabury, S. Rosero, C. Engebrecht, Ellen Wagner, C. Zizzi, Elizabeth Luebbe, N. Dilek, Michael Mcdermott, J. Kissel, V. Sansone, C. Heatwole   +12 more
semanticscholar   +1 more source

Circulating Biomarkers in Muscular Dystrophies: Disease and Therapy Monitoring

Molecular Therapy: Methods & Clinical Development, 2020
Muscular dystrophies are a group of inherited disorders that primarily affect the muscle tissues. Across the muscular dystrophies, symptoms commonly compromise the quality of life in all areas of functioning.
Andrie Koutsoulidou, Leonidas A. Phylactou   +1 more
doaj   +1 more source

Circulating small RNA signatures differentiate accurately the subtypes of muscular dystrophies: small-RNA next-generation sequencing analytics and functional insights

RNA Biology, 2022
Muscular dystrophies are a group of rare and severe inherited disorders mainly affecting the muscle tissue. Duchene Muscular Dystrophy, Myotonic Dystrophy types 1 and 2, Limb Girdle Muscular Dystrophy and Facioscapulohumeral Muscular Dystrophy are some ...
Andrea C. Kakouri, Demetris Koutalianos, Andrie Koutsoulidou, Anastasis Oulas, Marios Tomazou, Nikoletta Nikolenko, Chris Turner, Andreas Roos, Anna Lusakowska, Katarzyna Janiszewska, George K. Papadimas, Constantinos Papadopoulos, Evangelia Kararizou, Eleni Zamba Papanicolaou, Grainne Gorman, Hanns Lochmüller, George M. Spyrou, Leonidas A. Phylactou   +17 more
doaj   +1 more source

Genetics and muscle pathology in the diagnosis of muscular dystrophies: An update

Indian Journal of Pathology and Microbiology, 2022
Muscular dystrophies are a clinically and genetically heterogeneous group of disorders involving the skeletal muscles. They have a progressive clinical course and are characterized by muscle fiber degeneration.
Deepti Narasimhaiah, Megha S Uppin, Prajnya Ranganath   +2 more
doaj   +1 more source

Comparison of quantitative muscle ultrasound and whole-body muscle MRI in facioscapulohumeral muscular dystrophy type 1 patients

Neurological Sciences, 2023
Introduction Muscle ultrasound is a fast, non-invasive and cost-effective examination that can identify structural muscular changes by assessing muscle thickness and echointensity (EI) with a quantitative analysis (QMUS).
L. Fionda, F. Vanoli, A. Di Pasquale, L. Leonardi, S. Morino, Gioia Merlonghi, Antonio Lauletta, G. Alfieri, R. Costanzo, Laura Tufano, E. Rossini, E. Bucci, Andrea Grossi, R. Tupler, M. Salvetti, M. Garibaldi, G. Antonini   +16 more
semanticscholar   +1 more source

First person – Andreia Nunes

Disease Models & Mechanisms, 2021
First Person is a series of interviews with the first authors of a selection of papers published in Disease Models & Mechanisms, helping early-career researchers promote themselves alongside their papers. Andreia Nunes is first author on ‘ Identification
doaj   +1 more source

Early onset facioscapulohumeral muscular dystrophy [PDF]

Muscle & Nerve, 1995
We report 10 patients (5 familial, 5 sporadic) with facioscapulohumeral muscular dystrophy (FSHD) with onset of facial and shoulder girdle weakness in early infancy. They showed the same broad range of clinical signs and symptoms as can be seen normally in FSHD.
Brouwer, O.F., Padberg, G.W.A.M., Bakker, E., Wijmenga, C., Frants, R.R.   +4 more
openaire   +6 more sources

Facioscapulohumeral muscular dystrophy’s game of homeodomains: therapy wants a biomarker as a sword wants a whetstone

Brain Communications, 2023
This scientific commentary refers to ‘The FSHD muscle-blood biomarker: a circulating transcriptomic biomarker for clinical severity in facioscapulohumeral muscular dystrophy’, by Banerji et al. (https://doi.org/10.1093/braincomms/fcad221).
M. Kyba, D. Bosnakovski
semanticscholar   +1 more source