Lyme neuroborreliosis in a critically ill patient
The Journal of the International Society of Physical and Rehabilitation Medicine, 2020 Lyme neuroborreliosis (LNB) is a nervous system infection caused by the species of the spirochete Borrelia. A woman, with a history of right facial palsy, was admitted to the physical and rehabilitation medicine (PRM) unit for the rehabilitation of ...
Rui Alexandre Do Prado Costa +3 more
doaj +1 more source
Mutations in CHMP2B in lower motor neuron predominant amyotrophic lateral sclerosis (ALS) [PDF]
, 2010 Background: Amyotrophic lateral sclerosis (ALS), a common late-onset neurodegenerative disease, is associated with fronto-temporal dementia (FTD) in 3-10% of patients.
Adrian Higginbottom +16 more
core +10 more sources
Non-neural phenotype of spinal and bulbar muscular atrophy: Results from a large cohort of Italian patients [PDF]
, 2016 Objective: To carry out a deep characterisation of the main androgen-responsive tissues involved in spinal and bulbar muscular atrophy (SBMA). Methods: 73 consecutive Italian patients underwent a full clinical protocol including biochemical and hormonal ...
Angelini, Lorenzo +37 more
core +1 more source
Frontiers in Neurology, 2021 Background: Spinal and bulbar muscular atrophy (SBMA) is an X-lined motor neuron disease characterized by progressive muscle weakness, bulbar palsy, and dysphagia.
Dae-Won Gwak +7 more
doaj +1 more source
Broad clinical phenotypes associated with TAR-DNA binding protein (TARDBP) mutations in amyotrophic lateral sclerosis [PDF]
, 2010 The finding of TDP-43 as a major component of ubiquitinated protein inclusions in amyotrophic lateral sclerosis (ALS) has led to the identification of 30 mutations in the transactive response-DNA binding protein (TARDBP) gene, encoding TDP-43.
A Yokoseki +46 more
core +1 more source
Thyrotoxicosis: A rare cause of dysphagia
Sri Lanka Journal of Medicine, 2023 Excess and deficiency of thyroid hormones can have a variety of gastrointestinal manifestations ranging from heartburn, dysphagia, vomiting, diarrhea to constipation.
A. M. B. D. Alahakoon +1 more
doaj +1 more source
Genotype-phenotype correlation in Chinese patients with spinal and bulbar muscular atrophy. [PDF]
PLoS ONE, 2015 Spinal and bulbar muscular atrophy (SBMA) is an X-linked recessive motor neuron disease characterized by slowly progressive weakness and atrophy of proximal limbs and bulbar muscles.
Wang Ni +4 more
doaj +1 more source
Laryngeal sensitivity in patients with amyotrophic lateral sclerosis [PDF]
, 2016 Recent studies have shown the involvement of the sensory nervous system in patients with amyotrophic lateral sclerosis (ALS). The aim of our study was to investigate the correlation between the laryngeal sensitivity deficit and the type of ALS onset ...
BIASIOTTA, ANTONELLA +13 more
core +2 more sources
Antibodies to Full-Length Agrin Protein in Chinese Patients With Myasthenia Gravis
Frontiers in Immunology, 2021 This study aimed to establish a cell-based assay (CBA) for the detection of agrin antibodies (Agrin-Ab) to explore the clinical features of agrin antibody-positive Chinese patients with myasthenia gravis (Agrin-MG).
Shumin Wang +17 more
doaj +1 more source
Distal oesophageal spasm as a manifestation of myasthenia gravis [PDF]
Romanian Journal of Neurology, 2021 Myasthenia gravis is an autoimmune neuromuscular junction disorder affecting skeletal muscles. It is characterised by muscle fatigability with fluctuating weakness and diurnal variations.
Madhavi Karri +2 more
doaj +1 more source