SLC6A1 patient & organization perspective: founding of SLC6A1 connect, research, and ongoing efforts [0.03%]
SLC6A1患者及组织观点：SLC6A1 Connect的成立、研究及相关持续努力
Jacob Tiller,Melissa B DeLeeuw,Jing-Qiong Kang et al.
Jacob Tiller et al.
This paper describes the founding of the SLC6A1 Connect organization, which offers resources to patients and families with SLC6A1 diagnoses while keeping current with a scientific overview of the disorder. Following the birth of her two lov...
Joining forces to develop individualized antisense oligonucleotides for patients with brain or eye diseases: the example of the Dutch Center for RNA Therapeutics [0.03%]
合力开发针对脑或眼疾病患者的个体化反义寡核苷酸疗法——以荷兰RNA治疗中心为例
Annemieke Aartsma-Rus,Rob W J Collin,Ype Elgersma et al.
Annemieke Aartsma-Rus et al.
Antisense oligonucleotides (ASOs) offer versatile tools to modify the processing and expression levels of gene transcripts. As such, they have a high therapeutic potential for rare genetic diseases, where applicability of each ASO ranges fr...
A roadmap for SHANK3-related Epilepsy Research: recommendations from the 2023 strategic planning workshop [0.03%]
SHANK3相关癫痫研究路线图：2023年战略规划研讨会推荐意见
Margaret C Savage,Geraldine Bliss,Joseph D Buxbaum et al.
Margaret C Savage et al.
On September 27, 2023, the CureSHANK nonprofit foundation sponsored a conference in Boston, Massachusetts, to identify gaps in knowledge surrounding SHANK3-related epilepsy with the goal of determining future research priorities and recomme...
WITHDRAWAL: Proceedings from the MENA Congress for Rare Diseases, 16-19 May 2024, Abu Dhabi, UAE [0.03%]
罕见病：2024年5月16-19日在阿联酋阿布扎比举行的中东和北非大会 proceedings
[This retracts the article DOI: 10.1177/26330040241238936.]. © The Author(s), 2024.
Retraction of Publication
Therapeutic advances in rare disease. 2024 Sep 13:5:26330040241280488. DOI:10.1177/26330040241280488 2024
The small steps that lead to big impact: translating therapeutics from idea to reality for the CDKL5 deficiency disorder community [0.03%]
通向重大影响的小步骤：将疗法从想法转化为现实以造福CDKL5缺陷症患者社群
Amanda Jaksha,Marissa Bishop,Karen Utley et al.
Amanda Jaksha et al.
Despite the unmet needs of patients living with cyclin-dependent kinase-like 5 (CDKL5) deficiency disorder (CDD) and the challenges facing a rare population with small patient numbers, now is a time of unprecedented opportunities to turn sc...
Successful use of an eye gaze AAC communication board by a young adult with advanced Sanfilippo Syndrome (MPS IIIA): Case report [0.03%]
先进的桑菲利波综合征(MPS IIIA)青年患者使用眼部凝视AAC交流板的成功案例报告
Christine Brennan,Abigail Matthews,Sherri Tennant
Christine Brennan
Sanfilippo syndrome (Mucopolysaccharidosis Type III or MPS III) is a family of rare, lysosomal disorders characterized by progressive cognitive and motor deterioration. Even though individuals with MPS III present with complex communication...
The growing research toolbox for SLC13A5 citrate transporter disorder: a rare disease with animal models, cell lines, an ongoing Natural History Study and an engaged patient advocacy organization [0.03%]
SLC13A5柠檬酸转运蛋白障碍的研究工具箱日益扩大：一种具有动物模型、细胞系、正在进行的自然史研究和积极参与的患者倡导组织的罕见病
Tanya L Brown,Matthew N Bainbridge,Grit Zahn et al.
Tanya L Brown et al.
TESS Research Foundation (TESS) is a patient-led nonprofit organization seeking to understand the basic biology and clinical impact of pathogenic variants in the SLC13A5 gene. TESS aims to improve the fundamental understanding of citrate's ...