Results 181 to 190 of about 70,643 (278)

Contractures of the Hands As a Prenatal Phenotype of CACNA1A‐Related Disorder

Prenatal Diagnosis, EarlyView.
Lara Menzies, Alexander Gibbs, Tazeen Ashraf, Clare Beesley, Rowenna Roberts, Natalie J. Chandler   +5 more
wiley   +1 more source

Imaging of Abdominal Complications in Children With Acute Lymphoblastic Leukaemia

Journal of Medical Imaging and Radiation Oncology, EarlyView.
ABSTRACT Acute lymphoblastic leukaemia (ALL) is the most common paediatric malignancy and remains one of the most common causes of cancer‐related death in children and adolescents. Five‐year overall survival rates now exceed 90% with current multidrug chemotherapeutic regimens. This improvement, coupled with the toxicity of chemotherapy, has led to the
Luke R. Holmes, Rishi S. Kotecha, Derek J. Roebuck   +2 more
wiley   +1 more source

Nationwide Survey of Oral Function Management in Patients With Neuromuscular Intractable Diseases in Japan. [PDF]

Cureus
Shinohara M, Shiota S, Yamamura Y, Abe S, Shinohara R, Takahashi K, Namaki S, Hattori N.   +7 more
europepmc   +1 more source

Pre‐symptomatic risdiplam treatment for spinal muscular atrophy initiated at 12 days post‐birth: 14‐month safety and developmental outcomes

Pediatric Investigation, EarlyView.
Zhihao Sun, Liping Wu, Yufan Hui, Yuhang Zhong, Jiangtao Yang, Zhiyong Sun, Xiaoling Huang, Hui Xiong   +7 more
wiley   +1 more source

Reduction of DNA Topoisomerase Top2 Reprograms the Epigenetic Landscape and Extends Health and Life Span Across Species

Aging Cell, EarlyView.
This study demonstrates that reducing the enzyme topoisomerase Top2 or its mammalian homolog TOP2B promotes longevity across multiple species, including yeast, worms, and mice. At the cellular/molecular level, TOP2B reduction mitigates the major cellular aging hallmarks such as epigenetic alterations, cell senescence, lysosomal biogenesis, and ...
Man Zhu, Meng Ma, Lunan Luo, Feiyang Li, Jiashun Zheng, Yan Pan, Lu Yang, Ying Xiao, Ziyan Wang, Bo Xian, Yi Zheng, Hao Li, Jing Yang   +12 more
wiley   +1 more source

Identifying Phenotypes for Earlier Diagnosis of Rare Diseases. [PDF]

Stud Health Technol Inform
Ta CN, Liu C, Weng C.
europepmc   +1 more source

Sleep‐disordered breathing – clinical spectrum

Australian Dental Journal, Volume 69, Issue S1, Page S45-S52, June 2024.
ABSTRACT The clinical spectrum of sleep‐disordered breathing comprises a range of diverse conditions including obstructive sleep apnoea, central sleep apnoea and sleep‐related hypoventilation syndromes. These distinct conditions have specific diagnostic features and are managed differently from one another.
AM Mohammadieh, ASL Chan, PA Cistulli
wiley   +1 more source

Nusinersen versus sham control in later-onset spinal muscular atrophy [PDF]

, 2018
Connolly, A. M., et al,
core   +1 more source

Newborn screening facilitates early theranostics and improved spinal muscular atrophy outcome: five-year real-world evidence from Taiwan. [PDF]

Orphanet J Rare Dis
Wang CH, Hsu TR, Liu MY, Wang LY, Chou IJ, Lee WT, Liang WC, Lee IC, Chen HJ, Kao SM, Ho HC, Niu DM, Hsiao KJ, Chang MY, Hsieh HM, Jong YJ.   +15 more
europepmc   +1 more source

A case of neuralgic amyotrophy presenting with multiple lower cranial neuropathies with delayed onset of symptoms

PM&R, EarlyView.
Takashi Kasahara, Takeshi Kimachi, Mitsuhiko Kodama, Katsuhiro Mizuno   +3 more
wiley   +1 more source