Results 41 to 50 of about 66,871 (301)
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective Super‐Refractory Status Epilepticus (SRSE) is a rare, life‐threatening neurological emergency with unclear etiology in many cases. Mitochondrial dysfunction, often due to disease‐causing genetic variants, is increasingly recognized as a cause, with each gene producing distinct pathophysiological mechanisms.
Pouria Mohammadi +2 more
wiley +1 more source
SPG4 and Dementia: Expanding the Clinical Spectrum
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective Hereditary spastic paraplegia (HSP) is a group of disorders characterized by progressive spasticity and lower limb weakness, with mutations in SPG4/SPAST being the most common cause. Detailed studies and clinical and molecular comparisons across different populations are missing.
Emanuele Panza +19 more
wiley +1 more source
Haemophagocytic Lymphohistiocytosis as a Complication of Israeli Spotted Fever
European Journal of Case Reports in Internal Medicine, 2022 Rickettsia spp. human infection is endemic in Portugal in the form of Mediterranean spotted fever caused by R. conorii subsp. conorii and Israeli spotted fever (ISF) caused by R. conorii subsp. israelensis.
Maria Margarida Andrade +6 more
doaj +1 more source
Sarcoid polyneuropathy masquerading as chronic inflammatory demyelinating polyneuropathy. [PDF]
, 2015 IntroductionSarcoid polyneuropathy is a rare and clinically heterogeneous disorder that may be the initial presentation of sarcoidosis.MethodsWe report the clinical, electrophysiological, and pathological findings of a patient who carried a diagnosis of ...
Singhal, Neel S +3 more
core +1 more source
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Chimeric antigen receptor (CAR) T‐cell therapy has been investigated in neurological diseases, encompassing both central nervous system malignancies and autoimmune disorders, thereby extending its application beyond hematological cancers.
Omar Alqaisi +5 more
wiley +1 more source
Postgraduate Medical Journal, 1975 Summary Two cases of polyneuropathy occurring after rubella infections are described, together with the nerve biopsy and serological findings.
openaire +2 more sources
Arthritis Care &Research, EarlyView.Objective Sjögren's disease is an autoimmune disorder that can impact multiple organ systems, including the peripheral nervous system (PNS). PNS manifestations, which can exist concurrently, include mononeuropathies, polyneuropathies, and autonomic nervous system neuropathies.
Anahita Deboo +88 more
wiley +1 more source
A brain-based pain facilitation mechanism contributes to painful diabetic polyneuropathy
, 2018 The descending pain modulatory system represents one of the oldest and most fundamentally important neurophysiological mechanisms relevant to pain. Extensive work in animals and humans has shown how a functional imbalance between the facilitatory and ...
Segerdahl, Andrew +15 more
core +1 more source
m.10010T>C Mitochondrial Disease: A Case Report With Hypoparathyroidism and Review of the Literature
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Mitochondria are essential intracellular organelles that play a critical role in cellular metabolism, including the regulation of intracellular calcium signaling. Advances in genomic sequencing have facilitated the identification of rare pathogenic mitochondrial DNA (mtDNA) genetic variants in patients with unexplained endocrine disorders.
Jacob Mohr +5 more
wiley +1 more source
Intestinal microflora dysbiosis and resistome in chronic inflammatory demyelinating polyradiculoneuropathy (CIDP) [PDF]
Romanian Journal of NeurologyThe aim of the present study is to explore the bacterial diversity within the gut microbiome of chronic inflammatory demyelinating polyneuropathy patient.
Katia Djenadi +8 more
doaj +1 more source