Results 171 to 180 of about 1,622,414 (348)

Fluid and Neuroimaging Biomarkers in Microgliopathy Colony‐Stimulating Factor‐1 Receptor‐Related Disorders

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective This study aims to identify both fluid and neuroimaging biomarkers for CSF1R‐RD that can inform the optimal timing of treatment administration to maximize therapeutic benefit, while also providing sensitive quantitative measurements to monitor disease progression.
Tomasz Chmiela, Madison Reeves, Karen Jansen‐West, Judith Dunmore, Yuping Song, Audrey Strongosky, Sunil Gandhi, Gilana Pikover, Matt Blurton‐Jones, Robert C. Spitale, Erik H. Middlebrooks, Leonard Petrucelli, Mercedes Prudencio, Zbigniew K. Wszolek   +13 more
wiley   +1 more source

Inhibition of Classical and Alternative Complement Pathway by Ravulizumab and Eculizumab

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective To explore the feasibility of classical (CH50) and alternative (AH50) complement pathway activity as potential biomarkers for treatment guidance and monitoring during therapy with ravulizumab in patients with generalized myasthenia gravis (gMG) and compare these to therapeutic drug monitoring under eculizumab.
Lea Gerischer, Frauke Stascheit, Maximilian Mönch, Paolo Doksani, Carla Dusemund, Meret Herdick, Philipp Mergenthaler, Maike Stein, Amani Suboh, Jutta Schröder‐Braunstein, Guido Wabnitz, Jan D. Lünemann, Sophie Lehnerer, Sarah Hoffmann, Andreas Meisel   +14 more
wiley   +1 more source

Patient‐driven search for rare disease therapies: the Fondazione Telethon success story and the strategy leading to Strimvelis

, 2017
Lucía Monaco, Lucia Faccio
openalex   +1 more source

Localized primary malignant pericardial mesothelioma: a special diagnostic method for rare diseases [PDF]

, 2022
Yan Zhang, Ziqi Li, Mingjie Pang
openalex   +1 more source

Exploratory Analysis of ELP1 Expression in Whole Blood From Patients With Familial Dysautonomia

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Background Familial dysautonomia (FD) is a hereditary neurodevelopmental disorder caused by aberrant splicing of the ELP1 gene, leading to a tissue‐specific reduction in ELP1 protein expression. Preclinical models indicate that increasing ELP1 levels can mitigate disease manifestations.
Alejandra González‐Duarte, Lucy Norcliffe‐Kaufmann, Maria Luisa Cotrina, Zenith Khan, Kaia Dalamo, Patricio Millar Vernetti, Matthew Lawless, Elisabetta Morini, Monica Salani, Marla Weetall, Jana Narasimhan, Agostino G. Rocha, Susan A. Slaugenhaupt, Horacio Kaufmann   +13 more
wiley   +1 more source

Adult-onset Still disease: a rare disorder with a potentially fatal outcome [PDF]

, 2010
Roberta Priori, Serena Colafrancesco, Angelica Gattamelata, Manuela Di Franco, Ugo Di Tondo, Guido Valesini   +5 more
openalex   +1 more source

Deep Learning–Assisted Differentiation of Four Peripheral Neuropathies Using Corneal Confocal Microscopy

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Peripheral neuropathies contribute to patient disability but may be diagnosed late or missed altogether due to late referral, limitation of current diagnostic methods and lack of specialized testing facilities. To address this clinical gap, we developed NeuropathAI, an interpretable deep learning–based multiclass classification ...
Chaima Ben Rabah, Ioannis N. Petropoulos, Mark Stettner, Maryam Ferdousi, Uazman Alam, Nathan Efron, Ahmed Serag, Rayaz A. Malik   +7 more
wiley   +1 more source

Oesophageal atresia with tracheo-oesophageal fistula, ileal atresia and Hirschsprung’s disease: outcome of a rare phenotype

, 2019
Liliana Santos, Diana Coimbra, Catarina Cunha, Maria Francelina Lopes   +3 more
openalex   +2 more sources

Massively parallel rare disease genetics [PDF]

, 2011
Kathleen H. Burns, Aravinda Chakravarti
openalex   +1 more source

Rare ATG7 genetic variants predispose patients to severe fatty liver disease [PDF]

, 2022
Guido Baselli, Oveis Jamialahmadi, Serena Pelusi, Ester Ciociola, Francesco Malvestiti, Marco Saracino, Luigi Santoro, Alessandro Cherubini, Paola Dongiovanni, Marco Maggioni, Cristiana Bianco, Federica Tavaglione, Annalisa Cespiati, Rosellina Margherita Mancina, Roberta D’Ambrosio, Valentina Vaira, Salvatore Petta, Luca Miele, Umberto Vespasiani‐Gentilucci, Alessandro Federico, Jussi Pihlajamäki, Elisabetta Bugianesi, Anna Ludovica Fracanzani, Helen L. Reeves, Giorgio Soardo, Daniele Prati, Stefano Romeo, Luca Valenti, V. Borroni, Antonio Liguori, Luisa Ronzoni, Alessandro Cherubini, Luigi Santoro, Melissa Tomasi, Angela Lombardi, Mahnoosh Ostadreza, Elia Casirati, Ilaria Marini, S. Maier, Chiara Rosso, Gianluca Svegliati‐Baroni, Carlo Santaniello, Marcello Dallio   +42 more
openalex   +1 more source