Results 151 to 160 of about 11,580,920 (364)
Time to make rare disease diagnosis accessible to all
Nature Network Boston, 2022 H. Rehm
semanticscholar +1 more source
Myostatin Levels in SMA Following Disease‐Modifying Treatments: A Multi‐Center Study
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective This study investigated myostatin levels in SMA patients receiving disease‐modifying therapies (DMTs) to understand their relationship with treatment duration and functional status. Methods Our study includes both cross‐sectional and longitudinal analyses of myostatin levels in treated SMA patients.
Fiorella Piemonte +23 more
wiley +1 more source
Primary venous leiomyosarcoma: A rare but lethal disease [PDF]
, 1993 Matt Thompson +4 more
openalex +1 more source
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective Amygdala enlargement has been the subject of controversial studies regarding its significance in terms of pathogenicity both in epilepsy and in psychiatric comorbidities such as anxiety, depression, and post‐traumatic stress disorder.
Hélène Mourre +15 more
wiley +1 more source
CSF Biomarker‐Based Cognitive Trajectories in Parkinson's Disease‐Subjective Cognitive Decline
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective Cognitive complaints without objective cognitive impairment in Parkinson's Disease, termed Parkinson's Disease‐Subjective Cognitive Decline (PD‐SCD), have been associated with cognitive decline. However, its progression is heterogeneous, highlighting the need for improved identification of patients at greater risk for deterioration ...
Jon Rodriguez‐Antiguedad +7 more
wiley +1 more source
Rare diseases bullet 5: Primary pulmonary hypertension [PDF]
, 1999 A. Peacock
openalex +1 more source
Translating Muscle RNAseq Into the Clinic for the Diagnosis of Muscle Diseases
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective Approximately half of patients with hereditary myopathies remain without a definitive genetic diagnosis after DNA next‐generation sequencing (NGS). Here, we implemented transcriptome analysis of muscle biopsies as a complementary diagnostic tool for patients with muscle disease but no definitive genetic diagnosis after exome ...
Alba Segarra‐Casas +24 more
wiley +1 more source
Neurology and TherapyIntroduction Anti-aquaporin-4 antibody-positive (AQP4-Ab+) neuromyelitis optica spectrum disorder (NMOSD) is a complement-mediated autoimmune disease in which unpredictable and relapsing attacks on the central nervous system cause irreversible and ...
Stacey L. Clardy +10 more
doaj +1 more source
Hemoglobin CE Disease: A Rare Hemoglobinopathy Detected By Capillary Isoelectric Focusing Techniques (CIE) [PDF]
, 1999 R. P. Warrier +3 more
openalex +1 more source