Results 241 to 250 of about 1,622,414 (348)

Deep Learning Detection of Retinitis Pigmentosa Inheritance Forms through Synthetic Data Expansion of a Rare Disease Dataset [PDF]

Elizabeth E. Hwang, M. Rivera, Jia Lin, Kurt Ming-Chao Lin, Krish Nachnani, Olivia Yuan, Pulkit Madaan, Ying Han, Jacque L. Duncan, Jing Shan   +9 more
openalex   +1 more source

Remote Assessment of Ataxia Severity in SCA3 Across Multiple Centers and Time Points

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Spinocerebellar ataxia type 3 (SCA3) is a genetically defined ataxia. The Scale for Assessment and Rating of Ataxia (SARA) is a clinician‐reported outcome that measures ataxia severity at a single time point. In its standard application, SARA fails to capture short‐term fluctuations, limiting its sensitivity in trials.
Marcus Grobe‐Einsler, Vivian Maas, Arian Taheri Amin, Jennifer Faber, Tamara Schaprian, Katharina Hill, Matthis Synofzik, Lisa H. Graf, Heike Jacobi, Manuela Lima, Ana F. Ferreira, Bart P. van de Warrenburg, Ilse H. J. Willemse, Dagmar Timmann, Andreas Thieme, Paola Giunti, Hector Garcia‐Moreno, Magda M. Santana, Jeannette Hübener‐Schmid, Elin H. Davies, Thomas Klockgether   +20 more
wiley   +1 more source

Regulatory sandboxes: A new frontier for rare disease therapies

Rare
Galliano Zanello, Violeta Stoyanova-Beninska, Oxana Iliach, Daniel Scherman, Samantha Parker, David A. Pearce   +5 more
doaj   +1 more source

PO:26:095 | Educational online webinars of European Reference Network on rare and complex connective tissue and musculoskeletal diseases for patients, caregivers and healthcare professionals: six years' experience

Società Italiana Di Reumatologia
openalex   +1 more source

Brainstem and Cerebellar Volume Loss and Associated Clinical Features in Progressive Supranuclear Palsy

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Introduction Progressive Supranuclear Palsy (PSP) is a neurodegenerative ‘tauopathy’ with predominating pathology in the basal ganglia and midbrain. Caudal tau spread frequently implicates the cerebellum; however, the pattern of atrophy remains equivocal.
Chloe Spiegel, Timothy P. Siejka, Cassandra Marotta, Josh J. Y. Lee, Kelly Bertram, Terence J. O'Brien, Meng Law, Lucy Vivash, Ian H. Harding   +8 more
wiley   +1 more source

The Advance of In Silico Evidence to Transform Pediatric Drug Development for Rare Diseases. [PDF]

CPT Pharmacometrics Syst Pharmacol
Knöchel J, Zhao P, Desikan R, Zhou J, Abrantes JA, Harnisch L.   +5 more
europepmc   +1 more source

Trends, lag and characteristics of rare disease drug approval in the USA and China, 1983–2022

Shaohong Wang, Xin Liu, Yuzhen Zou, Yan Tang, Wei Zuo, Rong Jiang, Junmei Shang, X Tian, Q P Liu, Tingting Xu, Bo Zhang, Shuyang Zhang   +11 more
openalex   +1 more source

Genetic investigations on rare monogenic diseases [PDF]

, 2017
Sulák Adrienn
core  

Diffusion Spectrum Imaging Maps Early Axonal Loss and a Unique Progressive Signal in Neuronal Intranuclear Inclusion Disease

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective To delineate specific in vivo white matter pathology in neuronal intranuclear inclusion disease (NIID) using diffusion spectrum imaging (DSI) and define its clinical relevance. Methods DSI was performed on 42 NIID patients and 38 matched controls.
Kaiyan Jiang, Yixiu Pei, Xiaobao Hu, Ying Xiong, Fang Wang, Yanyan Yu, Min Zhu, Dandan Tan, Meihong Zhou, Daojun Hong, Fuqing Zhou   +10 more
wiley   +1 more source

Co-creation process of an app for people with rare diseases - a citizen science approach. [PDF]

Orphanet J Rare Dis
Schaaf J, Neff MC, Scheidt J, Storf H.
europepmc   +1 more source