Results 231 to 240 of about 321,114 (362)

Role of Perinatal Stem Cell Secretome as Potential Therapy for Muscular Dystrophies. [PDF]

Biomedicines
Pacilio S, Lombardi S, Costa R, Paris F, Petrocelli G, Marrazzo P, Cenacchi G, Alviano F.   +7 more
europepmc   +1 more source

A computational tool to optimize clinical trial parameter selection in Duchenne muscular dystrophy: A practical guide and case studies

CPT: Pharmacometrics &Systems Pharmacology, EarlyView.
Abstract Duchenne muscular dystrophy (DMD), a rare pediatric disease, presents numerous challenges when designing clinical trials, mainly due to the scarcity of available trial participants and the heterogeneity of disease progression. A quantitative clinical trial simulator (CTS) has been developed based on previously published five disease ...
Jordan Wilk, Varun Aggarwal, Mike Pauley, Diane Corey, Daniela J. Conrado, Karthik Lingineni, Juan Francisco Morales, Deok Yong Yoon, Yi Zhang, Zihan Cui, Jackson Burton, Jane Larkindale, Shu Chin Ma, Collin Hovinga, Terina Martinez, Klaus Romero, Ramona Belfiore‐Oshan, Sarah Kim, the Duchenne Regulatory Science Consortium (D‐RSC) and the CINRG DNHS investigators   +18 more
wiley   +1 more source

Severe distinct dysautonomia in RFC1‐related disease associated with Parkinsonism

Journal of the Peripheral Nervous System, Volume 27, Issue 4, Page 311-315, December 2022., 2022
Abstract Biallelic repeat expansions in replication factor C subunit 1 (RFC1) have recently been found to cause cerebellar ataxia, neuropathy and vestibular areflexia syndrome (CANVAS). Additional features that have been described include Parkinsonism and a multiple system atrophy (MSA)‐like syndrome.
Christopher J. Record, Rana Alnasser Alsukhni, Riccardo Curro, Diego Kaski, John S. Rubin, Huw R. Morris, Andrea Cortese, Valeria Iodice, Mary M. Reilly   +8 more
wiley   +1 more source

The concentration of α-tocopherol and ubiquinone in tissues of calves suffering from muscular dystrophy [PDF]

, 1968
Ritva Poukka
openalex   +1 more source

Outcomes of cerebrovascular disease in muscular dystrophies: A propensity-matched nationwide analysis. [PDF]

Eur J Neurol
Al-Salahat A, Dilsaver DB, Bawaneh S, Chen YT.   +3 more
europepmc   +1 more source

Novel mutations in the SGCA gene in unrelated Vietnamese patients with limb-girdle muscular dystrophies disease. [PDF]

Front Genet, 2023
Chung Tran N, Lien NTK, Ta TD, Nguyen VH, Tran HT, Van Tung N, Xuan NT, Huy Hoang N, Tran VK.   +8 more
europepmc   +1 more source

A Population Pharmacokinetic Model to Inform Extension of the Eteplirsen Dosing Regimen Across the Broad DMD Population

CPT: Pharmacometrics &Systems Pharmacology, EarlyView.
ABSTRACT Duchenne muscular dystrophy (DMD) is characterized by progressive, irreversible muscle damage that usually leads to premature death from cardiac or respiratory failure. Eteplirsen is a phosphorodiamidate morpholino oligomer and the first antisense oligonucleotide (ASO) approved for the treatment of patients with exon 51 skip‐amenable DMD. This
Yogesh Patel, Larry Orogun, Nicole Yocum, Louise R. Rodino‐Klapac, Lilly East   +4 more
wiley   +1 more source

Genetic and molecular architecture of familial hypercholesterolemia

Journal of Internal Medicine, Volume 293, Issue 2, Page 144-165, February 2023., 2023
Abstract Atherosclerotic cardiovascular disease is the leading cause of death globally. Despite its important risk of premature atherosclerosis and cardiovascular disease, familial hypercholesterolemia (FH) is still largely underdiagnosed worldwide. It is one of the most frequently inherited diseases due to mutations, for autosomal dominant forms, in ...
Marianne Abifadel, Catherine Boileau
wiley   +1 more source

The Persistence of Duchenne vs Becker Muscular Dystrophies: Vive la Difference? [PDF]

Neurol Genet
Hoffman EP.
europepmc   +1 more source

Nature Inspired Delivery Vehicles for CRISPR‐Based Genome Editing

Small, EarlyView.
The review highlights nature‐inspired nanocarriers for CRISPR delivery, emphasizing viral vectors, extracellular vesicles, liposomes, and lipid nanoparticles. It discusses their roles in improving specificity, minimizing immunogenicity, and overcoming barriers in genome editing. Recent advancements, challenges, and therapeutic applications are explored,
Elizabeth Maria Clarissa, Mamata Karmacharya, Hyunmin Choi, Sumit Kumar, Yoon‐Kyoung Cho   +4 more
wiley   +1 more source