Results 71 to 80 of about 16,402 (224)

In Vivo Evidence for Lysosome Depletion and Impaired Autophagic Clearance in Hereditary Spastic Paraplegia Type SPG11. [PDF]

PLoS Genetics, 2015
Hereditary spastic paraplegia (HSP) is characterized by a dying back degeneration of corticospinal axons which leads to progressive weakness and spasticity of the legs.
Rita-Eva Varga, Mukhran Khundadze, Markus Damme, Sandor Nietzsche, Birgit Hoffmann, Tobias Stauber, Nicole Koch, J Christopher Hennings, Patricia Franzka, Antje K Huebner, Michael M Kessels, Christoph Biskup, Thomas J Jentsch, Britta Qualmann, Thomas Braulke, Ingo Kurth, Christian Beetz, Christian A Hübner   +17 more
doaj   +1 more source

Gait phenotypes in paediatric hereditary spastic paraplegia revealed by dynamic time warping analysis and random forests [PDF]

, 2018
The Hereditary Spastic Paraplegias (HSP) are a group of heterogeneous disorders with a wide spectrum of underlying neural pathology, and hence HSP patients express a variety of gait abnormalities. Classification of these phenotypes May help in monitoring
Gómez-Andrés, David, López-López, Javier, Martín-Gonzalo, Juan Andrés, Pascual-Pascual, Samuel Ignacio, Pulido-Valdeolivas, Irene, Rausell, Estrella, Rodríguez-Andonaegui, Irene, Universitat Autònoma de Barcelona   +7 more
core   +5 more sources

Assessment of User Experience, Acceptability, Usability, Human‐Device Interaction, and Ergonomics in Two Mobile FES‐Cycling Systems for Individuals With Spinal Cord Injury

Artificial Organs, EarlyView.
This study evaluates the user experience, acceptability, usability, ergonomics, and human‐device interaction of two mobile FES‐cycling systems for individuals with spinal cord injury. The findings confirm a positive user experience, along with strong acceptance and usability of both devices, emphasizing their potential to enhance Sport‐Therapy and the ...
Roberta Nossa, Emilia Biffi, Nicole Sanna, Eleonora Diella, Eleonora Guanziroli, Federica Ferrari, Simona Ferrante, Franco Molteni, Alessandra Pedrocchi, Marco Tarabini, Emilia Ambrosini   +10 more
wiley   +1 more source

A Japanese hereditary spastic paraplegia family with a rare nonsynonymous variant in the SPAST gene

Human Genome Variation, 2021
Spastic paraplegia (SPG) type 4 is an autosomal dominant SPG caused by functional variants in the SPAST gene. We examined a Japanese family with three autosomal dominant SPG patients.
Takuya Morikawa, Shiroh Miura, Takahisa Tateishi, Kazuhito Noda, Hiroki Shibata   +4 more
doaj   +1 more source

Overexpression of KLC2 due to a homozygous deletion in the non-coding region causes SPOAN syndrome [PDF]

, 2015
SPOAN syndrome is a neurodegenerative disorder mainly characterized by spastic paraplegia, optic atrophy and neuropathy (SPOAN). Affected patients are wheelchair bound after 15 years old, with progressive joint contractures and spine deformities.
Amorim, Simone, Armas, Pablo, Calcaterra, Nora Beatriz, Coatti, Giuliana C., Coux, Gabriela, Figueiredo, Thalita, Gleeson, Joseph G., Griesi Oliveira, Karina, Kitajima, João P., Kok, Fernando, Macedo Souza, Lucia I., Martins Pinheiro, Marinalva, Melo, Uira S., Menck, Carlos F.M., Muotri, Alysson R, Olávio, Thiago R., Rocha, Clarissa R.R, Santos, Silvana, Zaki, Maha S., Zatz, Mayana   +19 more
core   +1 more source

Electrical Stimulation of Denervated Muscle: A Narrative Review

Artificial Organs, EarlyView.
This review explores existing strategies for stimulating denervated muscle following lower motor neuron injury, including direct electrical stimulation of the muscle and artificial reinnervation to enable more comfortable and efficient indirect functional muscle stimulation.
Linshan Chu, Jonathan C. Jarvis, Brian J. Andrews, James J. FitzGerald   +3 more
wiley   +1 more source

A pseudo‐homozygous missense variant and Alu‐mediated exon 5 deletion in FARS2 causing spastic paraplegia 77

Annals of Clinical and Translational Neurology
FARS2‐associated hereditary spastic paraplegia, later onset spastic paraplegia type 77, is a rarely neurodegenerative disease. Here, we reported two affected siblings in an autosomal recessive spastic paraplegia family with a pseudo‐homozygous missense ...
Shu‐Huai Lin, Jun‐Hao Xie, Jun‐Yi Jiang, Xin‐Yu Yan, Chao‐Yin Hong, Wan‐Jin Chen, Ning Wang, Xiang Lin   +7 more
doaj   +1 more source

The Genetic Landscape of Hereditary Spastic Paraplegia in Greece

Clinical Genetics, EarlyView.
We investigated 112 Greek index‐cases with hereditary spastic paraplegia collected over > 25 years using NGS and MLPA. We identified a causative variant in 68 patients (60.7%), including 7 novel causative variants. This study presents a comprehensive overview of the phenotypic and genotypic spectrum of HSP in the Greek population.
Georgios Koutsis, Viorica Chelban, Chrisoula Kartanou, Zoi Kontogeorgiou, Chrysoula Koniari, Nikolaos Ragazos, Charalampos Voudommatis, Kristina Zhelcheska, David S. Lynch, Reza Maroofian, Ehsan Barkhordari, Rahema Mohammad, Ioannis Zaganas, Minas Drakos, Georgia Xiromerisiou, Efthymios Dardiotis, Leonidas Stefanis, Marios Panas, Henry Houlden, Georgia Karadima   +19 more
wiley   +1 more source

Drosophila Spastin Regulates Synaptic Microtubule Networks and Is Required for Normal Motor Function [PDF]

, 2004
Nina Tang Sherwood is with California Institute of Technology, Qi Sun is with California Institute of Technology, Mingshan Xue is with UT Austin, Bing Zhang is with UT Austin, Kai Zinn is with California Institute of Technology.The most common form of ...
Sherwood, Nina Tang, Sun, Qi, Xue, Mingshan, Zhang, Bing, Zinn, Kai   +4 more
core   +6 more sources

Epidemiology of progressive intellectual and neurological deterioration in UK children

Developmental Medicine &Child Neurology, EarlyView.
This study of PIND in UK children was carried out via the British Paediatric Surveillance Unit from 1997 to 2024. It identified six cases of vCJD. 2367 children had other diagnoses explain their deterioration. There were 259 other diseases in the diagnosed group.
Christopher M. Verity, Polly J. Maunder, Anne Marie Winstone, Suvankar Pal   +3 more
wiley   +1 more source