Epilepsy and overgrowth-intellectual disability syndromes: a patient organization perspective on collaborating to accelerate pathways to treatment [0.03%]
癫痫和过度生长-智力障碍综合征：关于合作以加速治疗途径的患者组织观点
Kerry Grens,Kit M Church,Eric Diehl et al.
Kerry Grens et al.
Overgrowth-intellectual disability (OGID) syndromes are a collection of rare genetic disorders with overlapping clinical profiles. In addition to the cardinal features of general overgrowth (height and/or head circumference at least two sta...
Five cases of pulmonary Aspergillus nodules diagnosed at surgery and by pathology in immunocompetent patients, with a literature review [0.03%]
免疫功能正常的患者的5例肺曲霉球的外科和病理诊断以及文献回顾
Shuangxia Dong,Fengxiang Wang,Haizhen Jin et al.
Shuangxia Dong et al.
A pulmonary Aspergillus nodule is a rare subtype of chronic pulmonary aspergillosis. The diagnosis is difficult and is histological. There are only a few reports on such cases. Here, we report five cases of pulmonary Aspergillus nodules con...
Linking Angelman and dup15q data for expanded research (LADDER) database: a model for advancing research, clinical guidance, and therapeutic development for rare conditions [0.03%]
Angelman综合征和dup15q数据扩展研究链接（LADDER）数据库：罕见病研究、临床指导和治疗开发的模式
Sarah Nelson Potter,Elizabeth Reynolds,Katherine C Okoniewski et al.
Sarah Nelson Potter et al.
Angelman syndrome (AS) and duplication 15q (dup15q) syndrome are rare neurogenetic conditions arising from a common locus on the long arm of chromosome 15. Individuals with both conditions share some clinical features (e.g. intellectual dis...
Corrigendum to "The Rare Diseases Clinical Research Network: a model for clinical trial readiness" [0.03%]
罕见疾病临床研究网络：提高临床试验能力的典范（勘误）
[This corrects the article DOI: 10.1177/26330040231219272.]. © The Author(s), 2024.
Understanding patient, caregiver, and healthcare provider perspectives of the management of long-chain fatty acid oxidation disorders [0.03%]
从患者、照料者和医疗保健提供者的角度理解长链脂肪酸氧化障碍的管理问题
Eileen Sullivan Baker,Jennifer Botham,Tasia Rechisky et al.
Eileen Sullivan Baker et al.
Long-chain fatty acid oxidation disorders (LC-FAODs) are a group of rare, inherited, metabolic disorders that can lead to a wide range of symptoms that predominantly affect organ systems with high energy needs, such as the heart, liver, ske...
Understanding dentatorubral-pallidoluysian atrophy (DRPLA) symptoms and impacts on daily life: a qualitative interview study with patients and caregivers [0.03%]
理解齿状红核苍白球路易体萎缩(DRPLA)的症状及其对日常生活的影响：一项定性访谈研究
Marielle G Contesse,Rebecca J Woods,Mindy Leffler et al.
Marielle G Contesse et al.
Background: Dentatorubral-pallidoluysian atrophy (DRPLA) is a rare, neurodegenerative disorder with no disease-modifying treatments. There is a dearth of information in the literature about the patient and caregiver exper...
Establishing resources and increasing awareness to advance research on Dentatorubral-pallidoluysian atrophy toward a treatment: a patient organization perspective [0.03%]
建立资源和提高意识以推进导致鲁卢亚萎缩症的研究迈向治疗：患者组织的视角
Silvia Prades,Andrea Compton,Jeffrey B Carroll
Silvia Prades
Dentatorubral-pallidoluysian atrophy (DRPLA) is an ultra-rare neurodegenerative disorder characterized by ataxia, cognitive decline, myoclonus, chorea, epilepsy, and psychiatric manifestations. This article delves into the multifaceted effo...
Developing a pathway to clinical trials for CACNA1A-related epilepsies: A patient organization perspective [0.03%]
CACNA1A相关性癫痫临床试验路径的制定——患者组织视角
Pangkong M Fox,Sunitha Malepati,Lisa Manaster et al.
Pangkong M Fox et al.
CACNA1A-related disorders are rare neurodevelopmental disorders linked to variants in the CACNA1A gene. This gene encodes the α1 subunit of the P/Q-type calcium channel Cav2.1, which is globally expressed in the brain and crucial for fast ...
Navigating the outcome maze: a scoping review of outcomes and instruments in clinical trials in genetic neurodevelopmental disorders and intellectual disability [0.03%]
成果评价指标的迷宫：基因神经发育障碍和智力障碍临床试验成果及评估工具综述研究
Annelieke R Müller,Nadia Y van Silfhout,Bibiche den Hollander et al.
Annelieke R Müller et al.
Background: Individuals with genetic neurodevelopmental disorders (GNDs) or intellectual disability (ID) are often affected by complex neuropsychiatric comorbidities. Targeted treatments are increasingly available, but du...
An integrated action plan to fund and support drug development for Dup15q syndrome: a patient organization perspective [0.03%]
Dup15q综合征药物研发资金和支持的综合行动方案：患者组织的角度
Ryan Rogers-Hammond,Carrie Howell
Ryan Rogers-Hammond
Maternal 15q11.2-13.1 duplication syndrome, or Dup15q syndrome (Dup15q), is a rare neurodevelopmental disorder affecting as many as 1 in 5000 to 1 in 20,000 children worldwide. Autism and seizures are two of the most commonly observed pheno...