Results 171 to 180 of about 2,414,789 (346)

Chronological and Spatial Distribution of Skeletal Muscle Fat Replacement in FHL1‐Related Myopathies

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objectives Variants in the FHL1 gene cause FHL1‐related myopathies (FHL1‐RMs), a group of neuromuscular disorders with diverse clinical presentations. This study aimed to comprehensively characterize the spatial and temporal patterns of skeletal muscle fat replacement throughout the whole body in FHL1‐RMs, to examine disease progression over ...
Rui Shimazaki, Satoru Noguchi, Hotake Takizawa, Yasushi Oya, Yuji Takahashi, Hirofumi Komaki, Hajime Arahata, Shinichiro Hayashi, Ichizo Nishino   +8 more
wiley   +1 more source

S204: SAFETY AND TOLERABILITY OF CAEL-101, AN ANTI-AMYLOID MONOCLONAL ANTIBODY, COMBINED WITH ANTI-PLASMA CELL DYSCRASIA THERAPY IN PATIENTS WITH LIGHT-CHAIN AMYLOIDOSIS: 18-MONTH RESULTS OF A PHASE 2 STUDY

HemaSphere, 2023
Jason Valent, Michaela Liedtke, Jeffrey Zonder, Maria Angelica Molina, Chandrasekhar Udata, Juliana Ianus, John Tripptree, Julia Catini, C Cristina Quarta   +8 more
doaj   +1 more source

Late miscarriage caused by Serratia marcescens: a rare but dire disease in pregnancy [PDF]

, 2015
Emídio Vale-Fernandes, Marina Moucho, Otília Brandão, Nuno Montenegro   +3 more
openalex   +1 more source

Will Memantine Exacerbate Seizures in People With Epilepsy? A Prospective Cohort Study

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective To evaluate whether add‐on memantine would exacerbate seizures in people with epilepsy. Methods This was a prospective cohort study. People with epilepsy diagnosed with cognitive impairment were consecutively invited. Those who agreed were followed up for at least 24 weeks.
Peiyu Wang, Lu Lu, Hui Gao, Qi Zhang, Jing Xiao, Josemir W. Sander, Weixi Xiong, Dong Zhou   +7 more
wiley   +1 more source

Cognitive trajectories in rare neurogenetic diseases: minding the gaps and filling the potholes [PDF]

, 2016
Elizabeth Berry‐Kravis
openalex   +1 more source

Daratumumab Treatment for Chronic Inflammatory Demyelinating Polyradiculoneuropathy (CIDP): A Case Report

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Chronic inflammatory demyelinating polyradiculoneuropathy (CIDP) is an immune‐mediated neuropathy featuring progressive weakness, sensory deficits, and areflexia. While corticosteroids, intravenous immunoglobulin, and plasmapheresis are effective first‐line immunotherapies, a subset of patients remains treatment‐refractory.
Xueyu Zhang, Jianli Zhao, Xue Zhao, Xiaowei Hu, Zichun Xiao, Jie Wu, Xiaowen Li, Jing Xu, Yu‐Jing Li   +8 more
wiley   +1 more source

Prevalence estimation of a rare disease with the French National Rare Disease Registry: example of TNF receptor associated periodic syndrome (TRAPS). [PDF]

Orphanet J Rare Dis
Subervie A, Elhani I, Labouret M, Georgin-Lavialle S, Hachulla E, Belot A, Hot A, Quartier P, Aouba A, Desdoits A, Saadoun D, Truchetet ME, Pillet P, Boursier G, Benhamou Y, Grall-Lerosey M, Granel B, Fain O, Queyrel V, Lescoat A, Melki I, Hentgen V.   +21 more
europepmc   +1 more source

Premature Severe Coronary Artery Disease in a 14 Year Old Case of Familial Homozygous Hyperlipoproteinemia: A Rare Case Report

, 2019
S. Telang, Giorgio Mandalà
openalex   +1 more source

Age‐Related Characteristics of SYT1‐Associated Neurodevelopmental Disorder

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objectives We describe the clinical manifestations and developmental abilities of individuals with SYT1‐associated neurodevelopmental disorder (Baker‐Gordon syndrome) from infancy to adulthood. We further describe the neuroradiological and electrophysiological characteristics of the condition at different ages, and explore the associations ...
Sam G. Norwitz, Josefine Eck, Joel S. Winston, Kate Baker   +3 more
wiley   +1 more source

Blockchain integration for rare disease clinical trials. [PDF]

Ann Med Surg (Lond)
Riaz U, Talha M, Ali U, Hassan M, Mahato RK.   +4 more
europepmc   +1 more source