Results 111 to 120 of about 94,605 (281)

LRRK2 as a Potential Disease‐Modifying Target in Sporadic Parkinson's Disease

Movement Disorders, EarlyView.
Abstract A growing understanding of the role that leucine‐rich repeat kinase 2 (LRRK2) plays in Parkinson's disease (PD) supports continued focus on this enzyme as a therapeutic target for PD. Accumulating evidence suggests that there are phenotypic, neuropathologic, and biological similarities between sporadic PD (sPD) and familial forms in which ...
Anthony E. Lang, Robert A. Hauser, Lorraine V. Kalia, Bonnie Hersh, Zdenek Berger, Roy Llorens Arenas, Coro Paisan‐Ruiz, Kyle Fraser, Danna Jennings, Jillian H. Kluss, Sarah Huntwork‐Rodriguez, Anastasia G. Henry, J. Timothy Greenamyre   +12 more
wiley   +1 more source

Electrophysiological Changes in Pediatric Spinal Muscular Atrophy: Results From an Observational Study

Muscle &Nerve, EarlyView.
ABSTRACT Introduction/Aims Previous studies of children with spinal muscular atrophy (SMA) have focused on the ulnar and median nerves, while lower‐limb and proximal motor nerves remain insufficiently characterized. This study aimed to evaluate compound muscle action potential (CMAP) amplitudes in upper‐ and lower‐limb motor nerves in children with SMA
Ruidi Sun, Jing Wang, Jie Han, Jun Jiang, Jiajun Wu, Xue Chen, Xiaolong Deng, Chunquan Cai, Dan Sun   +8 more
wiley   +1 more source

Tailored antisense oligonucleotides designed to correct aberrant splicing reveal actionable groups of mutations for rare genetic disorders

Experimental and Molecular Medicine
Effective translation of rare disease diagnosis knowledge into therapeutic applications is achievable within a reasonable timeframe; where mutations are amenable to current antisense oligonucleotide technology.
Htoo A. Wai, Eliska Svobodova, Natalia Romero Herrera, Andrew G. L. Douglas, John W. Holloway, Francisco E. Baralle, Marco Baralle, Diana Baralle   +7 more
doaj   +1 more source

Antisense oligonucleotide therapy rescues aggresome formation in a novel spinocerebellar ataxia type 3 human embryonic stem cell line

, 2019
Lauren R. Moore, Laura Keller, David D. Bushart, Rodrigo G. Delatorre, Duojia Li, Hayley S. McLoughlin, Maria do Carmo Costa, Vikram G. Shakkottai, Gary D. Smith, Henry L. Paulson   +9 more
openalex   +1 more source

Next‐generation sequencing in newborn screening: Current status, challenges, and future perspectives

Pediatric Investigation, EarlyView.
Newborn screening shifts from biochemical to genetic methods. Global exploration is promising but requires overcoming challenges and international collaboration to optimize implementation. ABSTRACT Newborn screening (NBS) is a key public health intervention that improves children's health outcomes by enabling precise intervention through the early ...
Zhelan Huang, Wenhao Zhou
wiley   +1 more source

Treatment of pediatric epilepsy

Pediatric Investigation, EarlyView.
Anti‐seizure medications are the first‐line treatment for the vast majority of children with epilepsy, with the advantages of non‐invasive wide adaptability. Surgery is the main treatment for drug‐resistant epilepsy and lesion‐related epilepsy, which can cure some cases of epilepsy in children. A ketogenic diet is often an add‐on therapy.
Junxiao Li, Tinghong Liu, Chang Liu, Jie Deng, Shijie Wu, Suhui Kuang, Xiaotong Li, Zhirong Wei, Shuli Liang   +8 more
wiley   +1 more source

Targeted Intracellular Delivery of Antisense Oligonucleotides via Conjugation with Small-Molecule Ligands

, 2010
Osamu Nakagawa, Xin Ming, Leaf Huang, Rudolph L. Juliano   +3 more
openalex   +2 more sources

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

Unveiling the potential of antisense oligonucleotides: Mechanisms, therapies, and safety insights [PDF]

Edanur Ersöz, Devrim Demir Dora
openalex   +1 more source

Mechanisms of palmitic acid-conjugated antisense oligonucleotide distribution in mice [PDF]

, 2020
Alfred E. Chappell, Hans Gaus, Andrés Berdeja, Ruchi Gupta, Minji Jo, Thazha P. Prakash, Michael Oestergaard, Eric E. Swayze, Punit P. Seth   +8 more
openalex   +1 more source