Results 271 to 280 of about 13,095,395 (361)

Neurologic Manifestations of Long COVID Affect Adult Females More Severely Than Males

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective To characterize differences in neurologic manifestations of postacute sequelae of SARS‐CoV‐2 infection (Neuro‐PASC) between females and males. Methods Cross‐sectional study of the first consecutive 261 posthospitalization Neuro‐PASC (PNP) and 2068 nonhospitalized Neuro‐PASC (NNP) patients evaluated at the Neuro‐COVID clinic between ...
Hannah Kopinsky, Melissa Lopez, Janet Miller, Millenia Jimenez, Eric M. Liotta, Igor J. Koralnik   +5 more
wiley   +1 more source

Case Report: Diagnostic odyssey in rare diseases: when genetic variants are misinterpreted. [PDF]

Front Pediatr
Montero-Hernández M, Pérez-Moix N, Carrascosa-Romero MC, López-Garrido MP, Sánchez-Sánchez F.   +4 more
europepmc   +1 more source

Policy evaluation frameworks for rare diseases: a scoping review. [PDF]

BMC Health Serv Res
Çakmak Barsbay M, Aydamak MY.
europepmc   +1 more source

Deep Learning Pose Estimation for Phenotyping of Co‐Occurring Hyperkinetic Movement Disorders

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective To explore whether routine outpatient video combined with deep learning‐based pose estimation and clinically interpretable kinematic features can support multi‐label phenotyping of co‐occurring hyperkinetic movement disorders (HMDs).
Laura Cif, Diane Demailly, Gabriella A. Horvàth, Juan Dario Ortigoza Escobar, Nathalie Dorison, Mayté Castro Jiménez, Cécile A. Hubsch, Thomas Wirth, Gun‐Marie Hariz, Sophie Huby, Morgan Dornadic, Zohra Souei, Muhammad Mushhood Ur Rehman, Simone Hemm, Mehdi Boulaymen, Eduardo M. Moraud, Jocelyne Bloch, Xavier Vasques   +17 more
wiley   +1 more source

A practical framework to approach the development and evaluation of patient registries for rare diseases. [PDF]

Orphanet J Rare Dis
Vaishnaw MS, Richesson R.
europepmc   +1 more source

Histopathological Evidence of Neurodegenerative Pathology in Epilepsy: A Systematic Review

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Epilepsy affects > 50 million people worldwide and is associated with a disproportionate burden of cognitive impairment. Emerging evidence suggests that neurodegenerative proteinopathies, particularly hyperphosphorylated tau (p‐tau) and amyloid‐β (Aβ), may contribute to cognitive dysfunction in people with epilepsy (PWE), even in the absence ...
Syeda Amrah Hashmi, Aleksander Luniewski, Vanessa Smith, Matthew McCord, Jaideep Kapur, Mark Quigg, Catherine Joshua, Ifrah Zawar   +7 more
wiley   +1 more source

EndoCompass Project: Rare Diseases in Endocrinology.

Horm Res Paediatr
Pereira AM, Hiort O.
europepmc   +1 more source

Macrophage Extracellular Vesicles: Therapeutic Strategies for Corneal Fibrosis in Rare Diseases. [PDF]

Biomolecules
Li H, Loewinger AS, Roshandel D, Fang Y, You J, Daniell M, Yang GN.   +6 more
europepmc   +1 more source

Progressive Parkinsonism in PPP2R5D‐Related Neurodevelopmental Disorder

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT PPP2R5D‐related neurodevelopmental disorder (Houge–Janssens syndrome type 1) is a rare autosomal dominant condition characterized by macrocephaly, intellectual disability, and epilepsy. Progressive parkinsonism is an emerging adult phenotype that neurologists should be aware of since timely genetic diagnosis opens the door to disease‐modifying
Katerina Bernardi, Enrique Gonzalez Saez‐Diez, Joshua Rong, Beril Ay, Shabbir Merchant, Kathryn Yang, Darius Ebrahimi‐Fakhari   +6 more
wiley   +1 more source

The landscape of 605 genetically confirmed distinct rare diseases in a single center in Mexico (2005-2025). [PDF]

Orphanet J Rare Dis
Zenteno JC, Ordoñez-Labastida V, Montes-Almanza L, Garcia-Martinez F, Martinez-Herrera A, Carreño-Bolaños D, Arce-Gonzalez R, Chacón-Camacho OF.   +7 more
europepmc   +1 more source