Multimodal Autonomic Biomarkers Predict Phenoconversion in Pure Autonomic Failure
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Background Pure autonomic failure (PAF) presents with autonomic failure without other neurological features. A third develop central neurological features, fulfilling criteria for multiple system atrophy (MSA) and Lewy body diseases (LBD), including Parkinson's disease and Dementia with Lewy bodies.
S. Koay +12 more
wiley +1 more source
Restoration of SMN in Schwann cells reverses myelination defects and improves neuromuscular function in spinal muscular atrophy [PDF]
, 2016 Spinal muscular atrophy (SMA) is a neuromuscular disease caused by low levels of SMN protein, primarily affecting lower motor neurons. Recent evidence from SMA and related conditions suggests that glial cells can influence disease severity.
Brophy, Peter J. +9 more
core +3 more sources
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective We aimed to investigate the comparative effectiveness of standard versus personalized extended interval dosing of anti‐CD20 therapy on clinical and sub‐clinical outcomes in multiple sclerosis. Methods Clinical information was collected prospectively on Research Electronic Data Capture.
Nabil K. El Ayoubi +6 more
wiley +1 more source
Progressive compromise of nouns and action verbs in posterior cortical atrophy [PDF]
, 2018 Processing of nouns and action verbs can be differentially compromised following lesions to posterior and anterior/motor brain regions, respectively. However, little is known about how these deficits progress in the course of neurodegeneration.
Borovinsky, Geraldine +9 more
core +1 more source
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
Clinical and molecular features and therapeutic perspectives of spinal muscular atrophy with respiratory distress type 1 [PDF]
, 2015 Spinal muscular atrophy with respiratory distress (SMARD1) is an autosomal recessive neuromuscular disease caused by mutations in the IGHMBP2 gene, encoding the immunoglobulin μ-binding protein 2, leading to motor neuron degeneration.
Corti, Stefania +4 more
core +2 more sources
THE INFLUENCE OF FOOD AND OF EPITHELIAL ATROPHY ON THE MANIFESTATIONS OF SACCHARO-BUTYRIC INTESTINAL PUTREFACTION. [PDF]
, 1907 Christian A. Herter
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
ACUTE YELLOW ATROPHY OF THE LIVER FOLLOWING OPERATION FOR INTESTINAL OBSTRUCTION. [PDF]
, 1907 C.E. Campbell-Horsfall
openalex +1 more source
Central Dysmyelination in SSADH‐Deficient Humans and Mice
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objectives Succinic semialdehyde dehydrogenase deficiency (SSADHD) is an inherited metabolic disorder characterized by an accumulation of γ‐aminobutyric (GABA). In addition to its synaptic role as an inhibitory neurotransmitter, GABA also plays an important role in myelination.
Itay Tokatly Latzer +11 more
wiley +1 more source