Results 41 to 50 of about 68,781 (284)

Induced Pluripotent Stem Cells for Duchenne Muscular Dystrophy Modeling and Therapy

Cells, 2018
Duchenne muscular dystrophy (DMD) is an X-linked recessive disorder, caused by mutation of the DMD gene which encodes the protein dystrophin. This dystrophin defect leads to the progressive degeneration of skeletal and cardiac muscles.
Lubos Danisovic, Martina Culenova, Maria Csobonyeiova   +2 more
doaj   +1 more source

A qualitative study on the impact of caring for an ambulatory individual with nonsense mutation Duchenne muscular dystrophy

Journal of Patient-Reported Outcomes, 2021
Background Duchenne muscular dystrophy is a rare genetic neuromuscular disorder, which can result in early death due to disease progression. Ataluren is indicated for the treatment of nonsense mutation Duchenne muscular dystrophy, in ambulatory ...
Kate Williams, Ian Davidson, Mark Rance, Katharina Buesch, Sarah Acaster   +4 more
doaj   +1 more source

The lack of the Celf2a splicing factor converts a Duchenne genotype into a Becker phenotype [PDF]

, 2016
Substitutions, deletions and duplications in the dystrophin gene lead to either the severe Duchenne muscular dystrophy (DMD) or mild Becker muscular dystrophy depending on whether out-of-frame or in-frame transcripts are produced.
BOZZONI, Irene, Briganti, F, LEGNINI, IVANO, MARTONE, Julie, MORLANDO, MARIANGELA, Picillo, E, Politano, L, STHANDIER, Olga Elena   +7 more
core   +2 more sources

Remaining Burden of Spinal Muscular Atrophy Among Treated Patients: A Survey of Patients and Caregivers

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Spinal muscular atrophy (SMA) significantly impacts motor function. This study aimed to assess the persistent burden and unmet needs among currently treated patients with SMA and their caregivers. Methods Two complementary web‐based surveys were distributed in August 2024 among patients with SMA and their caregivers.
Julie A. Parsons, Natalie Land, Melissa Culhane Maravic, Claire Cagle, Amal Jamaleddine, Hemal Shah, Thomas Brown, Christabella Cherubino, Mouhamed Gueye   +8 more
wiley   +1 more source

X-Linked Dilated Cardiomyopathy: A Cardiospecific Phenotype of Dystrophinopathy

Pharmaceuticals, 2015
X-linked dilated cardiomyopathy (XLDCM) is a distinct phenotype of dystrophinopathy characterized by preferential cardiac involvement without any overt skeletal myopathy.
Akinori Nakamura
doaj   +1 more source

Revertant fibres and dystrophin traces in Duchenne muscular dystrophy: Implication for clinical trials [PDF]

, 2010
Duchenne muscular dystrophy (DMD) is characterised by the absence of dystrophin in muscle biopsies, although residual dystrophin can be present, either as dystrophin-positive (revertant) fibres or traces.
Arechavala-Gomeza, V, Bushby, K, Edge, G, Feng, L, Guglieri, M, Hunt, D, Kinali, M, Lehovsky, J, Main, M, Morgan, JE, Muntoni, F, Sewry, CA, Straub, V   +12 more
core   +1 more source

Discovery and Treatment of Action Potential‐Independent Myotonia in Hyperkalemic Periodic Paralysis

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Hyperkalemic periodic paralysis (hyperKPP) is characterized by attacks of transient weakness. A subset of hyperKPP patients suffers from transient involuntary contraction of muscle (myotonia). The goal of this study was to determine mechanisms causing myotonia in hyperKPP.
Chris Dupont, Adam Deardorff, Murad Nawaz, Andrew A. Voss, Mark M. Rich   +4 more
wiley   +1 more source

"Of Mice and Measures": A Project to Improve How We Advance Duchenne Muscular Dystrophy Therapies to the Clinic [PDF]

, 2018
A new line of dystrophic mdx mice on the DBA/2J (D2) background has emerged as a candidate to study the efficacy of therapeutic approaches for Duchenne muscular dystrophy (DMD). These mice harbor genetic polymorphisms that appear to increase the severity
Aartsma-Rus, A., Bogdanik, L, Davies, K, De Luca, A, Demonbruen, Ar, Duan, D, Elsey, D, Fukada, Si, Girgenrath, M, Gonzalez, Jp, Gordish-Dressman, H, Grounds, Md, Heydemann, A, Kreibich, A, Lutz, C, Nagaraju, K, Nichols, A, Partridge, T, Passini, M, Pazze, Ld, Sanarica, F, Schnell, Fj, Spencer, M, Spurney, C, van Putten, M, Wells, Dj, Willmann, R, Yokota, T, Young, Cs, Zhong, Z   +29 more
core   +2 more sources

Digital Activity Markers in Chronic Inflammatory Demyelinating Polyneuropathy

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective To evaluate the utility of smartwatch and smartphone‐based activity metrics for assessing disease severity and quality of life in patients with chronic inflammatory demyelinating polyneuropathy (CIDP). Methods In the electronic monitoring of disease activity in patients with CIDP (EMDA‐CIDP) trial, we performed a prospective ...
Lars Masanneck, Jan Voth, Noëmi Gmahl, Konstantin Jendretzky, Niklas Huntemann, Noah M. Werner, Linea Schmidt, Menekse Oeztuerk, Paula Quint, Christina B. Schroeter, Hans Peter Hartung, Thomas Skripuletz, Gerd Meyer zu Hörste, Tobias Ruck, Sven G. Meuth, Marc Pawlitzki   +15 more
wiley   +1 more source

Oxidative stress in Duchenne muscular dystrophy: focus on the NRF2 redox pathway [PDF]

, 2015
Oxidative stress is involved in the pathogenesis of Duchenne muscular dystrophy (DMD), an X-linked genetic disorder caused by mutations in the dystrophin gene and characterized by progressive, lethal muscle degeneration and chronic inflammation.
Petrillo, Sara, Pelosi, Laura, Piemonte, Fiorella, Travaglini, Lorena, Forcina, Laura, Catteruccia, Michela, Petrini, Stefania, Verardo, Margherita, D'Amico, Adele, Musaro', Antonio, Bertini, Enrico   +10 more
core   +5 more sources