Results 151 to 160 of about 443,128 (313)
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
Diminished GAD67 Terminals and Ambient GABA Inhibition Associated with Reduced Motor Neuron Recruitment Threshold in the SOD1 G93A ALS mouse [PDF]
, 2021 Sharmila Venugopal +3 more
openalex +1 more source
EFFECT OF THE PROSTATIC EXTRACT (ROBAVERON) ON BLADDER FUNCTION : AN EXPERIMENTAL STUDY 3 －RESULT OF PHYSIOLOGICAL AND BIOCHEMICAL STUDY ON THE EXPERIMENTAL NEUROGENIC BLADDER - [PDF]
, 1974 Through the physiological and the biochemical study, the effects of prostatic extract (Robaveron) were investigated on the rabbits with experimental motor neuron lesion by the perfect transsection of the spinal cord. Experiments were carried out with two
下平, 正文 +4 more
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Network Localization of Fatigue in Multiple Sclerosis
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Background Fatigue is among the most common symptoms and one of the main factors determining the quality of life in multiple sclerosis (MS). However, the neurobiological mechanisms underlying fatigue are not fully understood. Here we studied lesion locations and their connections in individuals with MS, aiming to identify brain networks ...
Olli Likitalo +12 more
wiley +1 more source
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Mutations in myelin regulatory factor (MYRF) are linked to demyelinating disorders. We report a 38‐year‐old male who developed acute symmetric leukoencephalopathy mimicking a stroke following an influenza A virus infection. While clinical symptoms markedly improved with corticosteroids, MRI revealed persistent white matter lesions, contrasting
Jinghan Hu +5 more
wiley +1 more source
Pathomechanisms of motor neuron death by mutant TFG
, 2013 Toshitaka Kawarai +8 more
openalex +2 more sources
Real‐World Investigation of Satralizumab in Patients With Neuromyelitis Optica Spectrum Disease
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective Satralizumab, a monoclonal antibody targeting the interleukin‐6 receptor, has demonstrated efficacy in clinical trials for neuromyelitis optica spectrum disorder (NMOSD). However, its real‐world effectiveness and safety compared to conventional immunosuppressive therapies remain uncertain.
Li‐Tsung Lin +2 more
wiley +1 more source
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Pathogenic variants in KIF1C cause Spastic Paraplegia 58 (SPG58), typically presenting with cerebellar ataxia and spastic paraparesis. We report two unrelated patients with spastic paraparesis, cerebellar ataxia, and tremor. Whole‐exome sequence analysis identified novel homozygous variants in the motor domain of KIF1C (NM_006612.6): c.921G>A (
Akihiko Mitsutake +12 more
wiley +1 more source