Repeat Expansions in PLIN4 Cause Autosomal Dominant Vacuolar Myopathy With Sarcolemmal Features
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective We aim to describe and characterize two unrelated Spanish families suffering from an autosomal dominant autophagic vacuolar myopathy caused by repeat expansions in PLIN4. Methods We evaluated the clinical phenotype and muscle imaging, and performed a genetic workup that included exome sequencing, muscle RNAseq, and long‐read genome ...
Laura Llansó +17 more
wiley +1 more source
Is there an association between postural balance and pulmonary function in adults with asthma?
ClinicsOBJECTIVE: Asthma may cause systemic repercussions due to its severity and the effects of treatment. Our objective was to compare posture, balance, functional capacity, and quality of life (QOL) according to the severity of disease, as assessed by ...
Vivian Pinto de Almeida +5 more
doaj +1 more source
Respiratory and cardiovascular function at rest and during exercise testing in a healthy working population: effects of outdoor traffic air pollution [PDF]
, 2004 P Volpino +9 more
openalex +1 more source
Can 1st and 6th month pulmonary function test follow-ups give an idea about the long-term respiratory effects of COVID-19 pneumonia? [PDF]
, 2022 Serkan Emre Eroğlu +7 more
openalex +1 more source
NOTCH2NLC Repeat Expansions in Parkinsonian Disorders: Clinical and Neuroimaging Characteristics
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective Neuronal intranuclear inclusion disease (NIID) is a neurodegenerative disorder caused by NOTCH2NLC GGC repeat expansions, with heterogeneous clinical manifestations, including parkinsonism. Recent studies have identified NOTCH2NLC repeat expansions in patients with Parkinson's disease (PD) and atypical parkinsonism (aPM), suggesting ...
Han‐Lin Chiang +7 more
wiley +1 more source
Comparison of outcome measures for patients with chronic obstructive pulmonary disease (COPD) in an outpatient setting [PDF]
, 1997 BACKGROUND: To assist clinicians and researchers in choosing outcome measures for patients with chronic obstructive pulmonary disease attending routine outpatient clinics, a comparative assessment was undertaken of four questionnaires designed to reflect
Brazier, J.E. +5 more
core +1 more source
DFV890: a new oral NLRP3 inhibitor—tested in an early phase 2a randomised clinical trial in patients with COVID-19 pneumonia and impaired respiratory function [PDF]
, 2022 Ildikó Madurka +99 more
openalex +1 more source
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objectives Repetitive transcranial magnetic stimulation (rTMS) is a non‐invasive brain stimulation strategy with a demonstrated potential to reinforce the residual pathways after a spinal cord injury (SCI). A preclinically tested high‐frequency (15 Hz) rTMS (15 Hz rTMS) protocol was shown to induce corticospinal tract axon regeneration growth ...
Nabila Brihmat +8 more
wiley +1 more source
NORMATIVE VALUES FOR IMPULSE OSCILLATION RESPIRATORY FUNCTION TESTING IN 914 CHINESE CHILDREN AGE FROM 4 TO 14 YEARS OLD [PDF]
, 2007 Jinping Zheng +4 more
openalex +1 more source
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective To investigate the overall use of prescription medications among individuals with multiple sclerosis compared to the general population, with a focus on treatments beyond disease‐modifying therapies. Methods We conducted a nationwide, registry‐based study in Denmark.
Josefine Windfeld‐Mathiasen +4 more
wiley +1 more source