Results 171 to 180 of about 11,144,186 (305)

Clinical and Modifiable Factors Associated With Disability and Relapse in MOGAD: A Multicentre Cohort Study

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Background Factors associated with relapse course and disability in myelin oligodendrocyte glycoprotein antibody‐associated disease (MOGAD) remain incompletely understood. Objectives To identify clinical and modifiable factors associated with relapse and disability in MOGAD. Methods In this ambispective multicentre cohort study using data from
Yingtao Wang, Shaoxin Tao, Qiujia Wang, Xiaoyu Xu, Hui Yao, Zheng Liu, Dawei Li, Zhandong Qiu, Jinming Han, Jiangwei Xia, Qi Wang, Jun Sun, Kai Shao, Jiao Li, Shishuang Ruan, Yi Zhong, Jun Guo, Shougang Guo, Yue Huang, Guoliang Chai, Tao Jin, Hongyu Zhou, Junwei Hao, Yinan Zhao   +23 more
wiley   +1 more source

Editorial: Community series in primary immunodeficiencies worldwide, volume III. [PDF]

Front Immunol
Kanegane H, Condino-Neto A, Walter JE.
europepmc   +1 more source

Characterizing Cutaneous α‐Synuclein Deposition and Seeding Activity in Parkinson's Disease Subtypes

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Cutaneous phosphorylated α‐synuclein (p‐syn) and α‐synuclein seeding activity are promising biomarkers for Parkinson's disease (PD), but their clinical value remains uncertain due to disease heterogeneity. This study evaluates these two biomarkers in PD patients to inform phenotype‐specific diagnosis and disease severity assessment ...
Yuting Jin, Tianyuan Yang, Minglei Liu, Haiyang Luo, Jing Yuan, Ke Zhang, Xinsheng Han, Jing Yang, Yuming Xu   +8 more
wiley   +1 more source

X-linked myotubular myopathy, liver disease, and gene therapy. [PDF]

J Neuromuscul Dis
Pannia E, Karolczak S, Stine R, Dowling JJ.   +3 more
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

Genomic profiling as a tool for differential diagnosis of patients with pediatric lung diseases and discovery of novel disease-causing genes and genetic variants

, 2019
Primary ciliary dyskinesia (PCD) is a rare disorder that affects lungs, reproductive organs and the internal organs laterality. The disease is inherited in autosomal recessive or X-linked manner. PCD is clinically and genetically heterogeneous disorder
Anđelković, Marina, Spasovski, Vesna, Skakić, Anita, Pavlović, Sonja, Minić, Predrag, Sovtić, Aleksandar   +5 more
core  

Age-based risk estimates for C9orf72RE-related diseases: Theoretical developments and added value for genetic counseling. [PDF]

PLoS Genet
de Vienne D, de Vienne DM.
europepmc   +1 more source

Temporal Interference Stimulation of Centromedian‐Parafascicular Complex in Disorders of Consciousness: A Pilot Study

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Treatment of disorders of consciousness (DoC) remains a major clinical challenge, and noninvasive, targeted modulation of deep brain structures has emerged as a promising therapeutic strategy. We aimed to evaluate the feasibility/safety and preliminary effects of thalamic temporal interference stimulation (TIS) targeting centromedian‐
Gengyao Hu, Changgeng Song, Dianwei Wu, Xiaoqian Niu, Jianmin Hao, Lijuan Liu, Xiaogang Kang, Wen Jiang   +7 more
wiley   +1 more source

Clinical and genetic characterization of X-linked agammaglobulinemia in a Colombian cohort. [PDF]

World Allergy Organ J
Olaya Hernández M, Triviño Arias J, Arias Valderrama O, Cabrera Guarín V, Patiño JA, Pachajoa HM, Valencia DM, Franco AA, Castaño Jaramillo LM, Vélez Tirado N, Zea-Vera AF, Ortega-López MC, Olmos-Olmos C, Arévalo-Montenegro Y, Rincón-Arenas L, Franco JL, Orrego JC, Vásquez E, Obando-Gil C, Moribe I, Valderrama ML, Gómez-Parada C, Álvarez M, Arias AF, Pérez PM, Correa Jiménez O.   +25 more
europepmc   +1 more source

Region Specific miRNA–mRNA Networks in Gray and White Matter Lesions of Progressive Multiple Sclerosis

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Multiple sclerosis (MS) is a neurodegenerative demyelinating disease of the central nervous system. This study aimed to identify micro‐RNA (miRNA)–mRNA regulatory networks underlying region‐specific molecular mechanisms in white matter and gray matter lesions in progressive MS.
Adya Sapra, Nagendra K. Rai, Timothy D. Niepokny, Haley Courtney, Ajai Tripathi, Ranjan Dutta   +5 more
wiley   +1 more source