Results 21 to 30 of about 55,263 (257)

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

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

Influence of DUX4 Expression in Facioscapulohumeral Muscular Dystrophy and Possible Treatments

International Journal of Molecular Sciences, 2023
Facioscapulohumeral muscular dystrophy (FSHD) represents the third most common form of muscular dystrophy and is characterized by muscle weakness and atrophy.
E. Duranti, C. Villa
semanticscholar   +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

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

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

Treatment of Facioscapulohumeral Muscular Dystrophy (FSHD): A Systematic Review

Cureus, 2023
Facioscapulohumeral muscular dystrophy (FSHD) is the third most common type of muscular dystrophy. This disease presents as a slowly progressive asymmetric muscle weakness that involves the facial, scapular, and upper arm muscles mainly. Currently, there
Alex S. Aguirre, Olga M Astudillo Moncayo, Johanna Mosquera, Veronica E Muyolema Arce, Camila Gallegos, J. Ortíz, Andres F Andrade, Sebastian Oña, Maja Buj, M.D.   +8 more
semanticscholar   +1 more source

Medium to long-term outcome of thoracoscapular arthrodesis with screw fixation for facioscapulohumeral muscular dystrophy [PDF]

, 2013
Background: Shoulder girdle muscle weakness is the most constant feature of facioscapulohumeral muscular dystrophy and leads to scapular winging. Mechanical fixation of the scapula to the thoracic wall provides a stable fulcrum on which the deltoid ...
Atoun, Ehud, Copeland, Stephen, Levy, Ofer, Narvani, Ali, Sforza, Giuseppe, Van Tongel, Alexander   +5 more
core   +2 more sources

Baroreflex sensitivity in facioscapulohumeral muscular dystrophy

Physiological Reports, 2022
Facioscapulohumeral muscular dystrophy (FSHD), a common form of muscular dystrophy, is caused by a genetic mutation that alters DUX4 gene expression. This mutation contributes to significant skeletal muscle loss.
Miguel Anselmo, Shandon Coffman, Mia Larson, Kathryn Vera, Emma Lee, Mary McConville, Michael Kyba, Manda L. Keller‐Ross   +7 more
doaj   +1 more source

Clinical expression of facioscapulohumeral muscular dystrophy in carriers of 1-3 D4Z4 reduced alleles: Experience of the FSHD Italian National Registry [PDF]

, 2016
OBJECTIVES: Facioscapulohumeral muscular dystrophy type 1 (FSHD1) has been genetically linked to reduced numbers ( 64 8) of D4Z4 repeats at 4q35. Particularly severe FSHD cases, characterised by an infantile onset and presence of additional extra ...
Angelini, Corrado, Antonini, Giovanni, Berardinelli, Angela, Brisca, Giacomo, Bruno, Claudio, Bucci, Elisabetta, Cao, Michelangelo, D'Amico, Maria Chiara, D'Angelo, Maria Grazia, Di Muzio, Antonio, Fiorillo, Chiara, Govi, Monica, Maggi, Lorenzo, Mele, Fabiano, Moggio, Maurizio, Mongini, Tiziana, Morandi, Lucia, Nikolic, Ana, Pegoraro, Elena, Ravaglia, Sabrina, Ricci, Giulia, Rodolico, Carmelo, Rossi, Marta, Ruggiero, Lucia, Santoro, Lucio, Sera, Francesco, Siciliano, Gabriele, Tomelleri, Giuliano, Tupler, Rossella, Vercelli, Liliana, Villa, Luisa   +30 more
core   +4 more sources