Results 201 to 210 of about 113,624 (330)

Best practice guidelines for molecular analysis in spinal muscular atrophy [PDF]

, 2001
Hans Scheffer, Jan Maarten Cobben, Gert Matthijs, Brunhilde Wirth   +3 more
openalex   +1 more source

Ketosis-prone Diabetes as a Presentation of New-onset Diabetes in a Patient With Spinal Muscular Atrophy Type III. [PDF]

JCEM Case Rep
Thewjitcharoen Y, Nakasatien S, Kulkantrakorn K, Himathongkam T.   +3 more
europepmc   +1 more source

Video Urodynamic Study in Patients with Parkinson's Disease and Multiple System Atrophy

Movement Disorders Clinical Practice, EarlyView.
Abstract Background Most studies have analyzed the urodynamic characteristics of patients with Parkinson's disease (PD) and multiple system atrophy (MSA) using conventional urodynamic studies. Objectives This study investigated the urodynamic characteristics of both diseases using video urodynamic study (VUDS).
Hyun Sik Yoon, Seung Ho Jeon, Han‐Joon Kim, Seung‐June Oh   +3 more
wiley   +1 more source

Recent progress in identification of the X-linked Spinal Muscular Atrophy (XLSMA) gene confirms a major disease locus between Xpl 1.3-Xpl 1.2

, 1999
L. Baumbach, Devin Dressman, A Meindl, Eric P. Hoffman   +3 more
openalex   +1 more source

Cell Apoptosis and Glucocorticoid‐Induced Osteonecrosis

Med Research, EarlyView.
The review identifies glucocorticoid‐induced osteocyte/osteoblast apoptosis as central to femoral head osteonecrosis (GION), mediated through STAT1‐caspase‐3, PI3K/Akt, Wnt/β‐catenin, and oxidative stress pathways. Emerging therapies targeting these pathways (e.g., HIF‐1α stabilization, AMPK activation, and exosome‐mediated miRNA delivery) show ...
Xiumei Tang, Yanyun Pang, Peijia Zhu, Zhengdong Zhang, Sen Guo, Zhijian Wei, Wenzhao Wang, Bin Ning   +7 more
wiley   +1 more source

Six unaffected livebirths following preimplantation diagnosis for spinal muscular atrophy [PDF]

, 2001
Graeme P. Daniels, Rachel A. Pettigrew, Alan R. Thornhill, Stephen Abbs, Alison Lashwood, Fiona O’Mahony, Christopher G. Mathew, Alan H. Handyside, Peter Braude   +8 more
openalex   +1 more source

Prenatal carrier screening for spinal muscular atrophy among pregnant Thai women. [PDF]

Front Med (Lausanne)
Tangshewinsirikul C, Panburana P, Prakobpanich M, Chareonsirisuthigul T, Dejsuphong D, Tim-Aroon T, Khongkhatithum C, Sura T, Tunteeratum A, Wattanasirichaigoon D.   +9 more
europepmc   +1 more source

The Evolving Landscape of Immunotoxicity: Charting Mechanisms and Future Strategies for Immune Checkpoint Inhibitor Adverse Events

Med Research, EarlyView.
ABSTRACT The use of immune checkpoint inhibitors (ICIs) has significantly improved the efficacy of cancer therapy, but their associated immune‐related adverse events (irAEs) can severely compromise treatment safety. This review systematically summarizes the core mechanisms underlying irAEs, which include multi‐organ damage resulting from T‐cell ...
Anqi Lin, Keyin Zheng, Aimin Jiang, Xufeng Huang, Qi Wang, András Hajdu, Zhengrui Li, Jian Zhang, Peng Luo   +8 more
wiley   +1 more source

An update of the mutation spectrum of the survival motor neuron gene (SMN1) in autosomal recessive spinal muscular atrophy (SMA)

, 2000
Brunhilde Wirth
openalex   +1 more source

Aclarubicin treatment restores SMN levels to cells derived from type I spinal muscular atrophy patients [PDF]

, 2001
Catia Andreassi
openalex   +1 more source