Results 231 to 240 of about 7,998,845 (308)

Juvenile Huntington Disease With Cerebellar‐Predominant Atrophy Identified by Genome Sequencing

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Juvenile Huntington disease accounts for a small fraction of Huntington disease cases and is driven by the largest trinucleotide repeat expansions. We describe a 6‐year‐old boy with progressive global regression, generalized dystonia, and epilepsy, in whom serial imaging showed striking cerebellar‐predominant atrophy with an initially normal ...
Enrique Gonzalez Saez‐Diez, Amy Tam, Siofra Carty, Monica Ferrer Socorro, Kathryn Yang, Darius Ebrahimi‐Fakhari   +5 more
wiley   +1 more source

From Small Data to Big Decisions: How Clinical Pharmacology Shapes Rare Disease Development. [PDF]

J Clin Pharmacol
Xu Y, Verone-Boyle A, Schmitz N, Zahir H, Willis BA.   +4 more
europepmc   +1 more source

Stage‐Specific Patterns of Imaging and Non‐Motor Biomarkers in Spinocerebellar Ataxia Type 3

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Advancements in disease‐modifying therapies for spinocerebellar ataxia Type 3 (SCA3) underscore the need for robust biomarkers to monitor disease progression and evaluate treatment efficacy. Although motor phenotypes have been well characterized, less is known about non‐motor and imaging‐based features across different disease stages.
Chun Li, Zhi‐Xian Ye, Xuan‐Yu Chen, Liang‐Liang Qiu, Zhi‐li Chen, Yu‐Sen Qiu, Wei Lin, Ru‐Ying Yuan, Xin‐Tong Yu, Chun‐Yu Huang, Xin‐Yuan Chen, Min‐Ting Lin, Jian‐Ping Hu, Wan‐Jin Chen, Ning Wang, Shao‐Bo Yao, Shi‐Rui Gan, Ying Fu   +17 more
wiley   +1 more source

Rare diseases in Iceland

Læknablaðið
openaire   +2 more sources

LLM-Assisted Reanalysis of Unsolved Rare Disease Genomes Increases Diagnostic Yield. [PDF]

NEJM AI
Jaech A, Cheatham M, Shringarpure SS, Genetti CA, Pradhan P, Bagul A, Panch T, Rader B, Sewalk K, Distler R, Anderson KN, Stewart M, Lejfer S, Glahn DC, Goldstein RD, Wojcik M, Beggs AH, Brownstein JS, Brownstein CA.   +18 more
europepmc   +1 more source

Efficacy of Fampridine on Refractory Optic Neuritis in Neuromyelitis Optica Spectrum Disorders

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Background Neuromyelitis optica spectrum disorders (NMOSD) usually occur with acute refractory optic neuritis (ON). However, there is a lack of efficacious treatments to improve recovery. Since fampridine has been found to improve the prognosis of multiple sclerosis (MS) and MS‐related ON, it is necessary to explore the efficacy of fampridine ...
Hongxuan Wang, Wanru Chen, Xiangpen Li, Hengjian Lu, Chenguang Li, Xiaoni Zhang, Lulu Bu, Xiaoyu Xu, Qingyu Shen, Ying Peng   +9 more
wiley   +1 more source

Application of knowledge graphs in rare disease research. [PDF]

Front Public Health
Fei Y, Ding H, Tong S, He Y, Cai W.
europepmc   +1 more source

Myostatin/Smad3 in Spinal Muscular Atrophy: Biomarkers of Disease Severity and Treatment Response

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Given the role of Myostatin (MSTN) in muscle homeostasis and its modulation by current spinal muscular atrophy (SMA) therapies, we investigated serum MSTN and, for the first time, its downstream effector Smad3 as candidate non‐invasive biomarkers in SMA patients undergoing disease‐modifying therapies (DMTs).
Giorgia Riolo, Claudia Dosi, Stefano Parravicini, Riccardo Zanin, Marta Cheli, Eleonora Giacopuzzi Grigoli, Amalia Canciello, Francesca Andreetta, Riccardo Masson, Silvia Bonanno, Stefania Marcuzzo, Lorenzo Maggi   +11 more
wiley   +1 more source

Identifying barriers and policy priorities for rare disease research in underrepresented European countries. [PDF]

Eur J Public Health
Lace B, Inashkina I, Dan D, Weinman A, Adam P, Kvlividze O, Tumiene B, Isidro A, Pereira CA, Teixeira G, Crowley RK, ERDERA UC Stakeholder Panel.   +11 more
europepmc   +1 more source

Serostatus‐Specific Prognostic Profiles and Phenotype‐Dependent Therapeutic Windows in Autoimmune Encephalitis: A Multicenter Cohort Study

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Background While autoimmune encephalitis (AE) outcomes vary, serostatus‐specific prognostic determinants and institutional clustering effects remain poorly characterized. We aimed to delineate the distinct prognostic architecture of AE, identifying serostatus‐specific risk factors and potential therapeutic windows.
Xiaohong Tang, Jingxian Wang, Kaixin Zhu, Zhen Zhang, Liao Wu, Wei Wang, Chang Li, Qingyun Li, Hao Li, Jinghua Chen, Zhangxu Lian, Bin Liu, Tengfei Liu, Chunmei Wen, Nuan Wang, Sen Qun, Lishun Xiao, Qingwei Lai   +17 more
wiley   +1 more source