Results 121 to 130 of about 390,159 (364)
Long-term muscle-specific overexpression of DOK7 in mice using AAV9-tMCK-DOK7
Molecular Therapy: Nucleic Acids, 2023 Neuromuscular junction (NMJ) dysfunction underlies several diseases, including congenital myasthenic syndromes (CMSs) and motor neuron disease (MND).
Yu-Ting Huang +8 more
doaj
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective To provide a comprehensive clinical and genetic characterization of individuals with arthrogryposis multiplex congenita (AMC), focusing on the distribution of genetic etiologies across the neuromuscular spectrum and comparing myogenic and neurogenic subtypes. Methods A total of 105 individuals with AMC were clinically and genetically
Florencia Pérez‐Vidarte +13 more
wiley +1 more source
Quo vadis motor neuron disease? [PDF]
, 2016 Motor neuron disease (MND), also known as amyotrophic lateral sclerosis, is a relentlessly progressive neurodegenerative condition that is invariably fatal, usually within 3 to 5 years of diagnosis. The aetio-pathogenesis of MND remains unresolved and no
Balendra, R, Patani, R
core +1 more source
SARS‐CoV‐2 Is Linked to Brain Volume Loss in Multiple Sclerosis
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective The impact of SARS‐CoV‐2 infection on brain and spinal cord pathology in patients with multiple sclerosis (pwMS) remains unclear. We aimed to describe changes in brain lesion activity and brain and spinal cord volumes following SARS‐CoV‐2 infection.
Tomas Uher +12 more
wiley +1 more source
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective Despite the availability of effective therapies for Multiple Sclerosis (MS), the unpredictable nature of disease progression and the variability in individual treatment outcomes call for reliable biomarkers. This pilot study aims to investigate the potential of plasma circulating microRNAs (miRNAs) as predictive biomarkers for ...
Fortunata Carbone +19 more
wiley +1 more source
Identification of Alternative Transcription Start Sites that Generate Neuron-Specific nhsl1b Isoform that Regulates Neuron Migration [PDF]
, 2020 Identification of Alternative Transcription Start Sites that Generate Neuron-Specific nhsl1b Isoform that Regulates Neuron Migration Abanoub Bector, Depts. of Biology and Chemistry, with Dr. Sarah Golding, Dept.
Bector, Abanoub
core +1 more source
UBA1/GARS-dependent pathways drive sensory-motor connectivity defects in spinal muscular atrophy [PDF]
, 2018 Deafferentation of motor neurons as a result of defective sensory-motor connectivity is a critical early event in the pathogenesis of spinal muscular atrophy, but the underlying molecular pathways remain unknown.
Boyd, Penelope J. +10 more
core +3 more sources
Detecting rs‐fMRI Networks in Disorders of Consciousness: Improving Clinical Interpretability
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Background Preserved resting‐state functional MRI (rs‐fMRI) networks are typically observed in Disorders of Consciousness (DOC). Despite the widespread use of rs‐fMRI in DOC, a systematic assessment of networks is needed to improve the interpretability of data in clinical practice.
Jean Paul Medina Carrion +15 more
wiley +1 more source
LYSOSOMAL PACKAGING IN DIFFERENTIATING AND DEGENERATING ANURAN LATERAL MOTOR COLUMN NEURONS [PDF]
, 1974 Robert S. Decker
openalex +1 more source
Factors for Rituximab Refractoriness in AQP4‐IgG+ NMOSD: A Cohort Study
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective Neuromyelitis optica spectrum disorder (NMOSD) is a severe autoimmune condition of the central nervous system (CNS), often associated with aquaporin‐4 antibodies (AQP4‐IgG). Rituximab, a CD20+ B‐cell depleting monoclonal antibody, is widely used as first‐line therapy.
Mariano Marrodan +8 more
wiley +1 more source