LINC00323 variant is associated with increased risk of essential tremor
Annals of Clinical and Translational Neurology, EarlyView.Abstract Essential tremor (ET) is a common adult movement disorder, with accumulating evidence suggesting that genetic factors primarily account for ET risk. However, replication studies on the genetic variants have yielded inconsistent results. In our case–control study, we show that the LINC00323 variant, identified in a European GWAS study, is ...
Brendan Tan +11 more
wiley +1 more source
Spinous process fractures after chiropractic massage in a previously healthy subject
Brazilian Neurosurgery, 2014 Increasing available alternative therapies to the treatment of back pain and sometimes difficult access to specialized medical evaluations allowed a widespread use of alternative therapies for the treatment of back pain.
Ricardo Vieira Botelho +3 more
doaj +1 more source
Progressive Myoclonus Epilepsy: Distinctive MRI Changes in Cerebellar and Motor Networks
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective Progressive myoclonus epilepsy (PME) is a rare generalized epilepsy syndrome with a well‐characterized genetic basis. The brain networks that are affected to give rise to the distinctive symptoms of PME are less well understood. Methods Eleven individuals with PME with a confirmed genetic diagnosis and 22 controls were studied.
Jillian M. Cameron +3 more
wiley +1 more source
Recommendations for the management of MPS VI: systematic evidence- and consensus-based guidance. [PDF]
, 2019 IntroductionMucopolysaccharidosis (MPS) VI or Maroteaux-Lamy syndrome (253200) is an autosomal recessive lysosomal storage disorder caused by deficiency in N-acetylgalactosamine-4-sulfatase (arylsulfatase B).
Akyol, Mehmet Umut +30 more
core
Beta-agonist stimulation ameliorates the phenotype of spinal and bulbar muscular atrophy mice and patient-derived myotubes [PDF]
, 2017 Spinal and bulbar muscular atrophy (SBMA) is a neuromuscular disease characterized by the loss of lower motor neurons. SBMA is caused by expansions of a polyglutamine tract in the gene coding for androgen receptor (AR).
Blaauw, Bert +18 more
core +3 more sources
Ciência Rural, 1997 Utilizando-se 20 cães, com o segmento lombar da coluna vertebral cirurgicamente desestabilizado na junção das vértebras L2-L3, foi testada a eficiência de placas ortopédicas de cloreto de polivinila (PVC) Tigre®, fixadas com parafusos nos corpos ...
Eduardo Alberto Tudury +2 more
doaj +1 more source
Correspondence of MRI and nTMS With EDSS in Multiple Sclerosis: Longitudinal Follow‐Up Study
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objectives Considering the characteristics of multiple sclerosis (MS) disease and its impact on motor disability, this study aims to assess the functional integrity of the corticospinal tract by examining motor evoked potentials (MEPs), Expanded Disability Status Scale (EDSS) scores, magnetic resonance imaging (MRI) lesion counts, and ...
Antonia Bralić +13 more
wiley +1 more source
Leptomeningitis in a person with radiologically isolated syndrome and latent tuberculosis. A case report with implications for clinical research [PDF]
, 2018 A 39-year-old man, followed with serial MRI of CNS for a radiologically isolate syndrome (RIS, a recently described condition considered a subclinical form of MS), was hospitalized for the occurrence of a leptomeningitis. Routine blood tests and contrast
Bozzao, Alessandro +8 more
core +1 more source
Occasional essay: upper motor neuron syndrome in amyotrophic lateral sclerosis [PDF]
, 2020 The diagnosis of amyotrophic lateral sclerosis (ALS) requires recognition of both lower (LMN) and upper motor neuron (UMN) dysfunction.1 However, classical UMN signs are frequently difficult to identify in ALS.2 LMN involvement is sensitively detected ...
Burke, David +6 more
core +1 more source
SpineOne: A One-Stage Detection Framework for Degenerative Discs and Vertebrae [PDF]
arXiv, 2021 Spinal degeneration plagues many elders, office workers, and even the younger generations. Effective pharmic or surgical interventions can help relieve degenerative spine conditions. However, the traditional diagnosis procedure is often too laborious.
arxiv