Congenital insensitivity to pain with anhidrosis: a literature review and the advocacy for stem cell therapeutic interventions [0.03%]
先天性无痛无汗症的文献综述及干细胞治疗干预的倡导
Muhammad Ikrama,Muhammad Usama,Muhammad Hassan Haider et al.
Muhammad Ikrama et al.
Congenital Insensitivity to Pain with Anhidrosis (CIPA) is a rare genetic disorder affecting the autonomic nervous system, leading to an inability to feel pain, temperature, or sweat1. This condition is caused by mutations in the NTRK1 gene...
Neuroanatomical anomalies due to a defect in the FGF3 gene, associated with the Labyrinthine Aplasia, Microtia and Microdontia syndrome: insights from the placement of auditory brainstem implants in two siblings [0.03%]
FGF3基因缺陷所致听神经解剖异常与迷路发育不全、先天小耳畸形和恒齿小型化综合征相关：两兄弟姐妹植入脑干听觉假体的启示
Johan H M Frijns,Roos M G S Geerders,Esther Scholing et al.
Johan H M Frijns et al.
Here, we describe two congenitally deaf male siblings with the same compound heterozygotic, likely pathogenic mutations in the FGF3 gene, associated with the labyrinthine aplasia, microtia and microdontia (LAMM) syndrome. Both children had ...
Stephanie Prince,Emily Bonkowski,Christopher McGraw et al.
Stephanie Prince et al.
Coalition to Cure CHD2 (CCC) is a patient advocacy group dedicated to improving the lives of those affected by CHD2-related disorders (CHD2-RD) by increasing education, building community, and accelerating research to uncover a cure. CHD2 i...
Erratum to "Patient-advocate-led global coalition adapting fit-for-purpose outcomes measures to assure meaningful inclusion of DEEs in clinical trials" [0.03%]
关于“以患者倡导者为主导的国际联盟适应因地制宜的结果测量方法以确保在临床试验中有意义地纳入罕见病患者”的勘误通知
[This corrects the article DOI: 10.1177/26330040241249762.]. © The Author(s), 2024.
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