Results 1 to 10 of about 82,823 (261)

SPG10 is a rare cause of spastic paraplegia in European families [PDF]

, 2008
Background: SPG10 is an autosomal dominant form of hereditary spastic paraplegia (HSP), which is caused by mutations in the neural kinesin heavy chain KIF5A gene, the neuronal motor of fast anterograde axonal transport.
Auer-Grumbach, M., Boesch, S., Kassubek, J., Klimpe, S., Klopstock, Thomas, Kostic, V., Kremer, B.P.H., Otto, S., Schöls, L., Schüle, R., van de Warrenburg, B.P.   +10 more
core   +13 more sources

Double gene mutations of LRSAM1 and REEP1 and a new REEP1 mutation site found in a patient with amyotrophic lateral sclerosis with subjective paresthesia: A case report

Ibrain, EarlyView., 2023
Amyotrophic lateral sclerosis (ALS) is a neurodegenerative disease characterized by selective degeneration of upper and lower motor neurons. Leucine‐rich repeats and sterility α mutations in motif 1 (LRSAM1) has been proven to be involved in the pathogenesis of ALS.
Ji‐Yao Qin, Zun‐Lin Zhou, Yuan‐Qing Zhou, Ya Chen, Xiao‐Yan Yang, Hai‐Qing Zhang, Zu‐Cai Xu   +6 more
wiley   +1 more source

FARS2 mutations presenting with pure spastic paraplegia and lesions of the dentate nuclei. [PDF]

, 2018
Mutations in FARS2, the gene encoding the mitochondrial phenylalanine-tRNA synthetase (mtPheRS), have been linked to a range of phenotypes including epileptic encephalopathy, developmental delay, and motor dysfunction.
Au, Margaret G, Graham, John M, Ibba, Michael, Pierson, Tyler M, Sahai, Supreet K, Salamon, Noriko, Steiner, Rebecca E   +6 more
core   +2 more sources

Functional outcome of patients with spinal cord injury: rehabilitation outcome study [PDF]

, 1999
Objective: To increase our knowledge of neurological recovery and functional outcome of patients with spinal cord injuries in order to make more successful rehabilitation programmes based on realistic goals.Design: Descriptive analysis of data gathered ...
G A Mulder, Hussey RW, J W Groothoff, Lazar RB, M C Schönherr, Rogers JC, W H Eisma, Waters RL, Waters RL, Waters RL, Welch RD, World Health Organization, Yarkony GM   +12 more
core   +1 more source

Control of posture with FES systems [PDF]

, 2003
One of the major obstacles in restoration of functional FES supported standing in paraplegia is the lack of knowledge of a suitable control strategy.
Gollee, H., Hunt, K.J., Matjacic, Z., Sinkjaer, T.   +3 more
core   +1 more source

Novel homozygous GBA2 mutation in a patient with complicated spastic paraplegia [PDF]

, 2018
Hereditary spastic paraplegias (HSPs) are a heterogeneous group of neurological disorders characterized primarily by a pyramidal syndrome with lower limb spasticity, which can manifest as pure HSP or associated with a number of neurological or non ...
Bertini, Enrico, Coarelli, Giulia, Ferraldeschi, Michela, Fornasiero, Arianna, Frontali, Marina, Nicita, Francesco, Ristori, Giovanni, Romano, Silvia, Salvetti, Marco, Spadaro, Maria, Travaglini, Lorena   +10 more
core   +1 more source

New results in feedback control of unsupported standing in paraplegia [PDF]

, 2004
The aim of this study was to implement a new approach to feedback control of unsupported standing and to evaluate it in tests with an intact and a paraplegic subject.
Gollee, H., Hunt, K.J., Wood, D.E.
core   +1 more source

Effects of Disability, Gender, and Level of Supervision on Ratings of Job Applicants [PDF]

, 2001
Using ratings of hypothetical job applicants with and without a disability obtained from both fulltime workers (n = 88) and undergraduates (n = 98), we examined the effects of disability (paraplegia, epilepsy, clinical depression, or non-disabled ...
Bell, Bradford S., Klein, Katherine J.
core   +2 more sources

Defective axonal transport in motor neuron disease [PDF]

, 2007
Several recent studies have highlighted the role of axonal transport in the pathogenesis of motor neuron diseases. Mutations in genes that control microtubule regulation and dynamics have been shown to cause motor neuron degeneration in mice and in a ...
Baas, Blair, Boillee, Bommel, Borchelt, Bowling, Brown, Bruijn, Burger, Cao, Cleveland, Cleveland, Duchen, Escurat, Evans, Fichera, Fliegner, Gaudette, Goldstein, Hadano, Hafezparast, Hazan, Hirokawa, Hirokawa, Hirokawa, Jablonka, Joshi, Kanai, Kaplan, Kieran, King, Kong, LaMonte, Levy, Ligon, Liu, Lo Giudice, Lu, Martin, Miki, Miki, Mitsumoto, Mitsumoto, Muglia, Munch, Nicholson, Nishimura, Okabe, Otomo, Parkinson, Parysek, Pasinelli, Patel, Proukakis, Puls, Puls, Quenneville, Rao, Reid, Reid, Reid, Rosen, Ross, Rowland, Sanderson, Schmitt-John, Shaw, Shibata, Siegel, Song, Teuchert, Troy, Vallee, Weber, Williamson, Wood, Xia, Zhao   +77 more
core   +1 more source

A model for incorporating a clinically-feasible exercise test in paraplegic annual reviews : a tool for stratified cardiopulmonary stress performance classification and monitoring [PDF]

, 2013
To identify and characterize an exercise test for use in routine spinal cord injury clinical review, and (ii) to describe levels of, and factors affecting, cardiopulmonary stress performance during exercise in the chronic paraplegic population in ...
Allan, David B., Berry, Helen, Coupaud, Sylvie, Grant, Stanley, McLean, Alan N.   +4 more
core   +1 more source