Results 21 to 30 of about 8,309 (264)

Early onset facioscapulohumeral dystrophy - a systematic review using individual patient data [PDF]

, 2017
Infantile or early onset is estimated to occur in around 10% of all facioscapulohumeral dystrophy (FSHD) patients. Although small series of early onset FSHD patients have been reported, comprehensive data on the clinical phenotype is missing.
Brouwer, Oebele F., Dorobek, Malgorzata, Erasmus, Corrie E., Goselink, Rianne J. M., Mah, Jean K., Nikolic, Ana, Okkersen, Kees, Padberg, George W., Schreuder, Tim H. A., Tupler, Rossella, Van Engelen, Baziel G. M., Voermans, Nicol C.   +11 more
core   +16 more sources

Facioscapulohumeral muscular dystrophy

Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease, 2015
Facioscapulohumeral muscular dystrophy (FSHD) is characterized by a typical and asymmetric pattern of muscle involvement and disease progression. Two forms of FSHD, FSHD1 and FSHD2, have been identified displaying identical clinical phenotype but different genetic and epigenetic basis.
Sacconi, Sabrina, SALVIATI, LEONARDO, Desnuelle, Claude   +2 more
openaire   +6 more sources

Characterizing the face in facioscapulohumeral muscular dystrophy [PDF]

Journal of Neurology, 2020
AbstractObjectiveTo evaluate facial weakness in patients with FSHD to better define clinical signs, and pilot a facial weakness severity score.Methods87 FSHD patients and 55 controls were video recorded while performing seven facial tasks. The videos were assessed by three independent examiners to compile an overview of signs of facial weakness.
Nicol C. Voermans, Sanne C. C. Vincenten, B.G.M. van Engelen, Karlien Mul, Thomas J.J. Maal, George W. Padberg, C. H. G. Beurskens, T. G. J. Loonen, T. G. J. Loonen, Corinne G.C. Horlings, Jeffrey Statland, S. Knuijt   +11 more
openaire   +4 more sources

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

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

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

Dysphagia in facioscapulohumeral muscular dystrophy [PDF]

Neurology, 2006
Dysphagia is not considered a symptom of facioscapulohumeral muscular dystrophy (FSHD). In this study, the authors found that dysphagia does occur in patients with advanced FSHD showing mild involvement of the jaw and lingual muscles. Dysphagia is seldom life threatening in these patients. The authors conclude that dysphagia should not be considered an
Wohlgemuth, M., Swart, B.J.M. de, Kalf, J.G., Joosten, F.B.M., Vliet, A.M. van der, Padberg, G.W.A.M.   +5 more
openaire   +4 more sources

Facioscapulohumeral muscular dystrophy in the dutch population [PDF]

Muscle & Nerve, 1995
Extrapolating the figures from a previous study on FSHD in a province of The Netherlands to the entire Dutch population suggests that at present a nearly complete overview is obtained of all symptomatic kindred. In 139 families, dominant inheritance was observed in 97, a pattern compatible with germline mosaicism in 6, while sporadic cases were found ...
Padberg, G.W.A.M., Frants, R.R., Brouwer, O.F., Wijmenga, C., Bakker, E., Sandkuijl, L.A.   +5 more
openaire   +6 more sources

Reprogramming of adult human peripheral blood mononuclear cells into hiPSCs from two patients with facioscapulohumeral muscular dystrophy type 1

Stem Cell Research, 2022
Facioscapulohumeral muscular dystrophy (FSHD) is one of the most common muscular dystrophy. FSHD type 1 (FSHD1) is caused by multicopy contraction of D4Z4 repeats on chromosome 4q35.
Fuze Zheng, Long Chen, Liangliang Qiu, Lin Lin, Xin Lin, Qifang He, Lili Wang, Zhixian Ye, Minting Lin, Zhiqiang Wang   +9 more
doaj   +1 more source