Results 211 to 220 of about 308,307 (292)
Molecular diagnosis of inherited platelet disorders: a tale of two realities - advanced vs. resource-limited setting. [PDF]
Safdari SM +7 more
europepmc +1 more source
ABSTRACT Objective This study aimed to systematically observe the clinical manifestations, immune cell subsets, and dynamic changes in serological indicators in patients with myasthenia gravis (MG) before and after efgartigimod (EFG) treatment. Methods We analyzed the baseline data, laboratory parameters, and lymphocyte subset proportions in MG ...
Tiancheng Luo +9 more
wiley +1 more source
Reduced Muscular Carnosine in Proximal Myotonic Myopathy—A Pilot 1H‐MRS Study
ABSTRACT Objective Myotonic dystrophy type 2 (proximal myotonic myopathy, PROMM) is a progressive multisystem disorder with muscular symptoms (proximal weakness, pain, myotonia) and systemic manifestations such as diabetes mellitus, cataracts, and cardiac arrhythmias.
Alexander Gussew +11 more
wiley +1 more source
Nerve ultrasound abnormality in <i>RFC1</i> positive isolated sensory neuropathy is milder than in the full <i>RFC1</i> canvas phenotype. [PDF]
Pelosi L, Garvey A, Kao J, Roxburgh R.
europepmc +1 more source
Acoustic Measures Capture Speech Dysfunction in Spinocerebellar Ataxia
ABSTRACT Objective Spinocerebellar ataxias (SCA) are hereditary cerebellar degenerative disorders with a common feature of dysarthria, involving impaired phonatory and articulatory control of speech, thereby affecting social communication. In this study, we investigated whether acoustic measures could objectively measure speech dysfunction and identify
Zena Fadel +5 more
wiley +1 more source
Pulmonary alveolar proteinosis in children on La Réunion Island: a new inherited disorder? [PDF]
Enaud L +16 more
europepmc +1 more source
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 +8 more
wiley +1 more source
Association of Corticospinal Tract Asymmetry With Ambulatory Ability After Intracerebral Hemorrhage
ABSTRACT Background Ambulatory ability after intracerebral hemorrhage (ICH) is important to patients. We tested whether asymmetry between ipsi‐ and contra‐lesional corticospinal tracts (CSTs) assessed by diffusion tensor imaging (DTI) is associated with post‐ICH ambulation.
Yasmin N. Aziz +25 more
wiley +1 more source
Lipomatosis in Myoclonic Epilepsy with Ragged Red Fibers Syndrome. [PDF]
Kalaria T, Wanninayake S, Geberhiwot T.
europepmc +1 more source

