Results 111 to 120 of about 78,813 (265)

Basal Energetics and Phosphocreatine Recovery Kinetics in Ambulatory Boys With Duchenne Muscular Dystrophy. [PDF]

NMR Biomed
Awale PP, Lopez C, Taivassalo T, Vandenborne K, Walter GA, Forbes SC.   +5 more
europepmc   +1 more source

Mismatch Between the Distribution of Neuromuscular Specialists and Myasthenia Gravis Patients in the US Medicare Fee‐for‐Service Population

Muscle &Nerve, EarlyView.
ABSTRACT Introduction/Aims There is a mismatch between clinical need and access to neurologists across the US. Myasthenia gravis (MG) incidence and prevalence are increasing, particularly in US patients older than 65 years, raising concern for access to neuromuscular specialists that represent only 4% of neurologists.
Lauren Herrera, David Bruckman, Ikjae Lee, Jesse D. Schold, Benjamin Claytor, Nicholas Silvestri, Yuebing Li, Michael K. Hehir   +7 more
wiley   +1 more source

Medical Claim Costs of Facioscapulohumeral Muscular Dystrophy in the United States. [PDF]

Clinicoecon Outcomes Res
Hill AA, Kinoshita J, Deypalan MN, Kolocha M, Hung M, Hon E, Sarraille W, Winegarden W, Ghanjanasak T, Arjomand J.   +9 more
europepmc   +1 more source

Enabling Functional Independence: A Scoping Review of Upper Extremity Assistive Devices for Adults With Progressive Neuromuscular Diseases

Muscle &Nerve, EarlyView.
This scoping review summarizes the spectrum of upper extremity assistive devices for adults with progressive neuromuscular diseases, ranging from low‐tech supports to advanced robotics, exoskeletons, and brain‐computer interface systems. While these technologies show promise for improving enabling function, current evidence is largely limited to ...
Katherine M. Burke, Stephanie Johnson, Kayla Chomko, Angela Escalante, Kendall C. Hall, Melis Lydston, Courtney Uek, Gabriella Casagrande, Hyun Jung Kim, James Arnold, David Pont‐Esteban, Harrison Young, Conor Walsh, Sabrina Paganoni   +13 more
wiley   +1 more source

The genetic and clinical characteristics of oculopharyngeal muscular dystrophy patients in Israel. [PDF]

Orphanet J Rare Dis
Ben-David M, Greenbaum L, Nikitn V, Zvulunov A, Charas H, Divon N, Barkan T, Chorin O, Reznik-Wolf H, Zloto O, Benyamini L, Shelly S, Dori A.   +12 more
europepmc   +1 more source

Imaging of Facial Muscles in Facioscapulohumeral Muscular Dystrophy: An Exploratory Study Comparing Magnetic Resonance Imaging and Ultrasound

Muscle &Nerve, EarlyView.
ABSTRACT Aims Facioscapulohumeral muscular dystrophy (FSHD) is a genetic progressive muscle disorder often presenting with facial weakness. However, imaging studies specifically evaluating facial muscle involvement and its relationship with clinical severity remain limited. This preliminary study explored magnetic resonance imaging (MRI) and ultrasound
Federico Pistoia, Elena Faedo, Marta Macciò, Giovanni Marcenaro, Maria Elena Susi, Mehrnaz Hamedani, Veronica Caramellino, Sara Massucco, Andrea Francesco Maria Vollaro, Paola Mandich, Fabio Gotta, Riccardo Picasso, Federico Zaottini, Marina Grandis, Carlo Martinoli   +14 more
wiley   +1 more source

Preclinical efficacy of a gene therapy for <i>CHKB</i>-mediated muscular dystrophy. [PDF]

Mol Ther Adv
Tavasoli M, Alkandari M, Dorighello G, Devitt J, Hagerty L, Damsker J, Hoffman EP, McMaster CR.   +7 more
europepmc   +1 more source

With Regard to the Expression Status of Sarcolemmal Aquaporin 4 in Human Muscular Dystrophies

Neurology and Clinical Neuroscience, EarlyView.
ABSTRACT Human muscular dystrophies are inherited muscle‐wasting diseases caused by the various kinds of gene mutations. Among them, Duchenne muscular dystrophy (DMD) is a representative type. Before the discovery of the causative dystrophin gene of DMD, the fragile myofiber plasma membrane was thought to be the trigger of myofiber necrosis in DMD ...
Yoshihiro Wakayama, Takahiro Jimi
wiley   +1 more source

Optical coherence tomography findings in Duchenne muscular dystrophy. [PDF]

BMC Ophthalmol
Yöyler G, Adıyeke SK.
europepmc   +1 more source

Prime editing in neuropsychiatric disorders: From mutation‐specific target selection to clinical translation

Neuroprotection, EarlyView.
Abstract Prime editing, a novel clustered regularly interspaced short palindromic repeats (CRISPR)‐based technology, fuses a reverse transcriptase (RT) to an engineered CRISPR‐associated protein 9 (Cas9) and uses a prime editing guide RNA (pegRNA)‐encoded template.
Tianshan Ji, Yuan Zhang, Jinyi Zhao, Yiping Lu, Chengkun Wang   +4 more
wiley   +1 more source