Results 241 to 250 of about 2,414,789 (346)

Advances in Cell and Gene Therapy for Rare Disease Treatment. [PDF]

Int J Stem Cells
Baek HJ, Nam Y, Rim YA, Ju JH.
europepmc   +1 more source

The Role of de novo and Ultra-Rare Variants in Hirschsprung Disease (HSCR): Extended Gene Discovery for Risk Profiling of Patients [PDF]

Mingzhou Fu, Hanna Berk-Rauch, Sumantra Chatterjee, Aravinda Chakravarti   +3 more
openalex   +1 more source

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

Hyperpigmented Plaque on the Neck of a Young Female: Rare Presentation of a Common Disease

Nilanjana Debnath, Atul Mohan, Krutika P. Naik, Satyendra Kumar Singh   +3 more
openalex   +1 more source

Sarcoidosis in childhood. A rare systemic disease

, 2016
Antonio Zamora-Chávez, Stanislaw Sadowinski‐Pine, Carlos Alberto Serrano-Bello, Luis Velázquez-Jones, Omar Josué Saucedo-Ramírez, Jonathan Palafox-Flores, Erandi Josefina Mata-Vázquez   +6 more
openalex   +1 more source

CX3CL1 in Early Detection of Alzheimer's Disease: Plasma Dynamics Across Age and Disease Stages

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Backgrounds Alzheimer's disease (AD) is characterized by amyloid‐beta plaques, tau tangles, and neuroinflammation. C‐X3‐C motif chemokine ligand 1 (CX3CL1, also known as fractalkine), a neuroimmune chemokine implicated in AD pathogenesis, shows inconsistent alterations in plasma/serum across studies.
Ling Wang, Yujie Liu, Fei Li, Xuelin Li, Lanlan Li, Jie Zhang, Yali Xu   +6 more
wiley   +1 more source

Pulmonary Hypertension in Rare Disease Overlap: Neurofibromatosis Type 1 Meets Sarcoidosis. [PDF]

Cureus
Sharma A, Bilal Y, Yousaf I, Masuta P, Gupta D.   +4 more
europepmc   +1 more source

EU adopts legislation to promote drug development for rare diseases.

, 2000
Barry James Whyte
openalex   +1 more source

A 73‐Year‐Old Man With Several Years of Difficulty Climbing Stairs and Frequent Tripping

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT A 73‐year‐old man presented with progressive weakness and atrophy predominantly affecting the distal finger flexors and quadriceps muscles. Electrophysiological studies demonstrated mixed myogenic and neurogenic features. Muscle MRI showed inflammatory changes, and muscle biopsy revealed granulomatous myositis with histologic features ...
Mehmet Can Sari, Arens Taga, Sonya Ulrike Steele, Ahmet Hoke   +3 more
wiley   +1 more source

Data Augmentation and Synthetic Data Generation in Rare Disease Research: A Scoping Review. [PDF]

Med Sci (Basel)
Finetti R, Roncaglia B, Visibelli A, Spiga O, Santucci A.   +4 more
europepmc   +1 more source