Results 51 to 60 of about 124,080 (339)
The clinical and molecular spectrum of ZFYVE26-associated hereditary spastic paraplegia: SPG15 [PDF]
, 2022 Afshin Saffari +33 more
openalex +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
A Comprehensive Review of the Effects of Extracorporeal Shock Wave Therapy on Stroke Patients: Balance, Pain, Spasticity [PDF]
, 2023 Jung-Ho Lee, Eun‐Ja Kim
openalex +1 more source
Age‐Related Characteristics of SYT1‐Associated Neurodevelopmental Disorder
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objectives We describe the clinical manifestations and developmental abilities of individuals with SYT1‐associated neurodevelopmental disorder (Baker‐Gordon syndrome) from infancy to adulthood. We further describe the neuroradiological and electrophysiological characteristics of the condition at different ages, and explore the associations ...
Sam G. Norwitz +3 more
wiley +1 more source
A Splicing Mutation in the Novel Mitochondrial Protein DNAJC11 Causes Motor Neuron Pathology Associated with Cristae Disorganization, and Lymphoid Abnormalities in Mice [PDF]
, 2014 Mitochondrial structure and function is emerging as a major contributor to neuromuscular disease, highlighting the need for the complete elucidation of the underlying molecular and pathophysiological mechanisms. Following a forward genetics approach with
Douni, E +9 more
core +1 more source
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective The Gold Coast criteria permit diagnosis of amyotrophic lateral sclerosis (ALS) even without upper motor neuron (UMN) signs. However, whether ALS patients with UMN signs (ALSwUMN) and those without (ALSwoUMN) share similar characteristics and prognoses remains unclear.
Hee‐Jae Jung +7 more
wiley +1 more source
Pre- and Post-alpha Motoneuronal Control of the Soleus H-reflex during Sinusoidal Hip Movements in Human Spinal Cord Injury [PDF]
, 2006 The aim of this study was to establish the contribution of hip-mediated sensory feedback to spinal interneuronal circuits during dynamic conditions in people with incomplete spinal cord injury (SCI).
Chaudhuri, Debjani +3 more
core +2 more sources
Erbil Journal of Nursing and Midwifery, 2022 Background and objectives: Spasticity, sometimes called hypertonia, makes movement difficult or even impossible. Spastic children with Cerebral Palsy face many health problems that need significant attention at home.
Farida Salim Faqi-Rahid +1 more
doaj +1 more source
Advanced Robotics Research, EarlyView.This study introduces a hybrid robot that integrates mechanical assistance by musculoskeletons (i.e., soft pneumatic muscle with rigid exoskeletal extensions), neuromuscular electrical stimulation, and vibrotactile feedback in a lightweight wearable mechatronic complex applicable to the paretic ankle–foot poststroke for gait restoration. The system can
Fuqiang Ye +16 more
wiley +1 more source
A novel mutation in SACS gene in a family from southern Italy [PDF]
, 2004 A form of autosomal recessive spastic ataxia (ARSACS) has been described in the Charlevoix and Saguenay regions of Quebec. So far a frameshift and a nonsense mutation have been identified in the SACS gene. The authors report a new mutation (1859insC),
BANFI S +10 more
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