Results 291 to 300 of about 113,489 (310)

Hereditary spastic paraplegia: Clinicogenetic lessons from 608 patients

Annals of Neurology, 2016
Peter Martus, Zacharias Kohl, Jan Kassubek   +2 more
exaly   +2 more sources

Mutations in SPG11, encoding spatacsin, are a major cause of spastic paraplegia with thin corpus callosum [PDF]

Nature Genetics, 2007
Autosomal recessive hereditary spastic paraplegia (ARHSP) with thin corpus callosum (TCC) is a common and clinically distinct form of familial spastic paraplegia that is linked to the SPG11 locus on chromosome 15 in most affected families. We analyzed
Giovanni Stevanin, Filippo M Santorelli, Paula Coutinho   +2 more
exaly   +2 more sources

Randomized Trial of Botulinum Toxin Type A in Hereditary Spastic Paraplegia — The SPASTOX Trial

Movement Disorders, 2021
Hereditary spastic paraplegia presents spasticity as the main clinical manifestation, reducing gait quality and producing incapacity. Management with botulinum toxin type A (BoNT‐A) is not well elucidated.
Fabricio Diniz de Lima, I. Faber, K.R. Servelhere, M. Bittar, A. Martinez, L. Piovesana, M. Martins, C. R. Martins, Tatiana Benaglia, Benilton de Sá Carvalho, A. Nucci, M. França   +11 more
semanticscholar   +1 more source

Parkinsonism and spastic paraplegia type 7: Expanding the spectrum of mitochondrial Parkinsonism

Movement Disorders, 2019
Pathogenic variants in the spastic paraplegia type 7 gene cause a complicated hereditary spastic paraplegia phenotype associated with classical features of mitochondrial diseases, including ataxia, progressive external ophthalmoplegia, and deletions of ...
B. De la Casa-Fages, G. Fernández-Eulate, J. Gámez, R. Barahona-Hernando, G. Morís, M. García-Barcina, J. Infante, M. Zulaica, Uxoa Fernández-Pelayo, Mikel Muñoz-Oreja, M. Urtasun, Ander Olaskoaga, Victoria Zelaya, I. Jericó, Raquel Sáez-Villaverde, I. Catalina, Emma Sola, E. Martínez-Sáez, A. Pujol, M. Ruiz, A. Schlüter, A. Spinazzola, J. Muñoz-Blanco, F. Grandas, I. Holt, V. Álvarez, A. López de Munain   +26 more
semanticscholar   +1 more source

Hereditary spastic paraplegia

Neurological Sciences, 2021
Sireesha Murala, Elanagan Nagarajan, P. Bollu   +2 more
semanticscholar   +1 more source

Clinical and genetic spectra of 1550 index patients with hereditary spastic paraplegia

Brain, 2022
Jean-Loup Méreaux, Vincent Huin, Alexis Brice   +2 more
exaly  

An Approach for the Cooperative Control of FES With a Powered Exoskeleton During Level Walking for Persons With Paraplegia

IEEE transactions on neural systems and rehabilitation engineering, 2016
Kevin H. Ha, Spencer A. Murray, M. Goldfarb   +2 more
semanticscholar   +1 more source

Hereditary spastic paraplegia.

Handbook of Clinical Neurology, 2018
C. Blackstone
semanticscholar   +1 more source

Hereditary spastic paraplegia: More than an upper motor neuron disease.

Revue neurologique (Paris), 2017
L. Parodi, S. Fenu, Giovanni Stevanin, Giovanni Stevanin, A. Durr   +4 more
semanticscholar   +1 more source

Novel splice-site variant of UCHL1 in an Indian family with autosomal recessive spastic paraplegia-79

Journal of Human Genetics, 2018
A. Das Bhowmik, S. Patil, D. Deshpande, Venkatraman Bhat, A. Dalal   +4 more
semanticscholar   +1 more source