Results 141 to 150 of about 433,578 (358)
Lessons Learned: Quality Analysis of Optical Coherence Tomography in Neuromyelitis Optica
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Introduction Optical coherence tomography (OCT)‐derived retina measurements are markers for neuroaxonal visual pathway status. High‐quality OCT scans are essential for reliable measurements, but their acquisition is particularly challenging in eyes with severe visual impairment, as often observed in neuromyelitis optica spectrum disorders ...
Hadi Salih +40 more
wiley +1 more source
Juvenile muscular atrophy of the distal upper limb (Hirayama disease) associated with atopy [PDF]
, 2001 Jun‐ichi Kira
openalex +1 more source
Prenatal diagnosis of common single gene disorders by DNA technology [PDF]
, 1997 Using the new DNA technology, it is now possible to offer prenatal diagnosis or presymptomatic testing for many genetic diseases. For prenatal diagnosis, foetal tissue is obtained y chorionic villus sampling at 9 to 11 weeks gestation or amniocentesis at
Chan, TK, Chan, VNY
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Autosomal Recessive Spastic Ataxia of Charlevoix‐Saguenay in Two Half‐Siblings
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Autosomal recessive spastic ataxia of Charlevoix‐Saguenay (ARSACS) is caused by biallelic pathogenic variants in the SACS gene. We report the clinical, radiologic and neurophysiologic features of a pair of half‐siblings who presented with progressive cerebellar ataxia, peripheral neuropathy and upper motor neuron signs.
Dennis Yeow +6 more
wiley +1 more source
Gap Junctions and Epileptogenesis: No Laughing Matter
EBioMedicine, 2016 Elisabetta Gazzerro, Pasquale Striano
doaj +1 more source
Human induced pluripotent stem cell-derived myotubes to model inclusion body myositis
Acta Neuropathologica CommunicationsInclusion body myositis (IBM) is an inflammatory myopathy that displays proximal and distal muscle weakness. At the histopathological level, the muscles of IBM patients show inflammatory infiltrates, rimmed vacuoles and mitochondrial changes.
Judith Cantó-Santos +19 more
doaj +1 more source
[Juvenile-onset muscular diseases].
Tidsskrift for den Norske laegeforening : tidsskrift for praktisk medicin, ny raekke, 2017 Children with muscular diseases constitute an important group in paediatric neurology. Some of the conditions are very serious and require extensive interdisciplinary treatment and facilitation. There is some degree of optimism regarding the possibility of causal treatment in some of the conditions.
Petra, Aden +5 more
openaire +1 more source
Insights Into the Antigenic Repertoire of Unclassified Synaptic Antibodies
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective We sought to characterize the sixth most common finding in our neuroimmunological laboratory practice (tissue assay‐observed unclassified neural antibodies [UNAs]), combining protein microarray and phage immunoprecipitation sequencing (PhIP‐Seq). Methods Patient specimens (258; 133 serums; 125 CSF) meeting UNA criteria were profiled;
Michael Gilligan +22 more
wiley +1 more source
Polyglutamine-expanded androgen receptor interferes with TFEB to elicit autophagy defects in SBMA. [PDF]
, 2014 Macroautophagy (hereafter autophagy) is a key pathway in neurodegeneration. Despite protective actions, autophagy may contribute to neuron demise when dysregulated.
Batlevi, Yakup +11 more
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