Results 211 to 220 of about 70,643 (278)

Whole-body muscle MRI in patients with spinal muscular atrophy. [PDF]

J Neurol
Frølich SV, Receveur N, Poulsen NS, Hansen AE, Vissing J.   +4 more
europepmc   +1 more source

Never Late: Cerebrotendinous Xanthomatosis and Improvements in Neurocognitive Functions in an Adult Patient on Chenodeoxycholic Acid Treatment

Clinical Genetics, EarlyView.
Cerebrotendinous xanthomatosis is due to biallelic pathogenic variants in CYP27A1. We report a new patient and his good neurocognitive outcome on the chenodeoxycholic acid treatment despite therapy starting at the age of 34 years. This highlights the importance of recognizing treatable inherited metabolic diseases at any age.
Randa Sultan, Marta Villa‐Lopez, Clara Hung, Morganne McCabe, Oksana Suchowersky, Jordan Urlacher, Saadet Mercimek‐Andrews   +6 more
wiley   +1 more source

Preclinical evaluation of AAV9-coSMN1 gene therapy for spinal muscular atrophy: efficacy and safety in mouse models and non-human primates. [PDF]

Mol Med
Ma W, Wu Z, Zhao T, Xia Y, Qin J, Tian X, Li X, He J, Zhang Y, Zhang L, Li L, Dong Z, Feng Z, Dong X, Sheng W, Wu X.   +15 more
europepmc   +1 more source

Prime Editing: A Revolutionary Technology for Precise Treatment of Genetic Disorders

Cell Proliferation, Volume 58, Issue 4, April 2025.
This review outlines the latest research advancements in prime editing technology, delivery strategies, and the challenges that must be addressed to fully realize its therapeutic potential, emphasizing the high potential of prime editing in the remission or cure of genetic diseases. ABSTRACT Genetic diseases have long posed significant challenges, with
Mengyao Li, Yi Lin, Qiang Cheng, Tuo Wei
wiley   +1 more source

Analysis of Eye Movements in Adults with Spinal Muscular Atrophy. [PDF]

Medicina (Kaunas)
Krivošík M, Košutzká Z, Šaling M, Boleková V, Brauneckerová R, Gábor M, Valkovič P.   +6 more
europepmc   +1 more source

Exercise Delays Brain Ageing Through Muscle‐Brain Crosstalk

Cell Proliferation, EarlyView.
This graphical abstract illustrates the reciprocal crosstalk between the brain and peripheral organs, highlighting the profound impact of exercise on brain health through systemic interactions. It underscores how exercise influences the brain via signals from various organs and, conversely, how the brain modulates functions of peripheral organs.
Shirin Pourteymour, Rakesh Kumar Majhi, Frode A. Norheim, Christian A. Drevon   +3 more
wiley   +1 more source

Quality of life in patients with spinal muscular atrophy in Brazil: patient self-assessment and carer perception. [PDF]

Rev Paul Pediatr
Coelho M, Zonta MB, Raskin S, Valderramas S.   +3 more
europepmc   +1 more source

Intelligent Manufacturing for Osteoarthritis Organoids

Cell Proliferation, EarlyView.
Overall schematic of intelligent manufacturing in osteoarthritis organoids. Broad overview of the article's structure, outlining the progression from fundamental joint anatomy and OA pathogenesis to organoid construction and, ultimately, to intelligent manufacturing and future prospects.
Xukun Lyu, Jian Wang, Jiacan Su
wiley   +1 more source

Administration practices of and adherence to nusinersen in children with spinal muscular atrophy: a multicenter disease registry study in China. [PDF]

BMC Pediatr
Peng J, Yao X, Luo R, Wang X, Wu L, Zhong J, Jin R, Lu X, Liang J, Hong S, Yang L, Zhang X, Mao S, Tao Z, Hu J, Sun D, Wang H, Zhang L, Xia Y, Chen K, Wang Y.   +20 more
europepmc   +1 more source