Results 101 to 110 of about 16,402 (224)

Hereditary spastic paraplegia: clinical changes and association with neuroimaging findings. [PDF]

, 2017
Oliveira FTM, Pessoa LFO
openalex   +1 more source

The Hmax/Mmax Ratio as a Diagnostic Tool in Assessing Spasticity in a Patient with Hereditary Spastic Paraplegia [PDF]

, 2023
Tae Yong Kim, Kyung Min Kim, Sung‐Rae Cho   +2 more
openalex   +1 more source

Genetic and metabolic diagnostic profile of children presented with spastic paraplegia/diplegia

Brain Disorders
Background: Spastic paraplegia/diplegia in children may be an early manifestation of underlying neurogenetic disorders which are often underdiagnosed in clinical practice.
Nebal Waill Saadi, Basma Adel Ibrahim, Qusay Abed Fahad, Henry Houlden, Rahema Mohammad, Mina Zamani, Adel A. Kareem, Ali Kadhim Al-Husseinawi, Hayder Kadhim Jabbar, Saif Hamed Farhan, Omar A.Thu Noon, Mays Al-Tai   +11 more
doaj   +1 more source

Hereditary spastic paraplegia: An “ears of the lynx” magnetic resonance imaging sign in a patient with recessive genetic type 11

, 2020
Emiliano Ruiz Romagnoli, Manuel Pérez Akly, Luis Ariel Miquelini, J. Funes, Cristina Besada   +4 more
openalex   +2 more sources

Bi-allelic variants in RNF170 are associated with hereditary spastic paraplegia

Nature Communications, 2019
Disturbances in IP3 receptor-mediated release of Ca2+ from the endoplasmatic reticulum are associated with neurodegenerative disease. Here, the authors identify in four families with hereditary spastic paraplegia biallelic mutations in RNF170 that ...
Matias Wagner, Daniel P. S. Osborn, Ina Gehweiler, Maike Nagel, Ulrike Ulmer, Somayeh Bakhtiari, Rim Amouri, Reza Boostani, Faycal Hentati, Maryam M. Hockley, Benedikt Hölbling, Thomas Schwarzmayr, Ehsan Ghayoor Karimiani, Christoph Kernstock, Reza Maroofian, Wolfgang Müller-Felber, Ege Ozkan, Sergio Padilla-Lopez, Selina Reich, Jennifer Reichbauer, Hossein Darvish, Neda Shahmohammadibeni, Abbas Tafakhori, Katharina Vill, Stephan Zuchner, Michael C. Kruer, Juliane Winkelmann, Yalda Jamshidi, Rebecca Schüle   +28 more
doaj   +1 more source

Physiotherapy and Rehabilitation in Hereditary Spastic Paraplegia [PDF]

, 2018
Aysun Yağci Şentürk, Ayşe Livanelioğlu   +1 more
openalex   +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, CRISCUOLO C, DE MICHELE, GIUSEPPE, FILLA, ALESSANDRO, GASPARINI P, MONTICELLI A, ORIO M, PERRETTI, ANNA CARMELA AGNESE, SANTORELLI FM, SANTORO, LUCIO, SCARANO V   +10 more
core  

The Effect of Repetitive Transcranial Magnetic Stimulation on Motor Symptoms in Hereditary Spastic Paraplegia [PDF]

, 2019
Jakub Antczak, Joanna Pera, Maria Dąbroś, Wojciech Koźmiński, Mateusz Czyżycki, Kamil Wężyk, Mateusz Dwojak, Marta Banach, Agnieszka Słowik   +8 more
openalex   +1 more source

Specific Gait Changes in Prodromal Hereditary Spastic Paraplegia Type 4: preSPG4 Study [PDF]

, 2022
Christian Laßmann, Winfried Ilg, Marc Schneider, Maximilian Völker, Daniel F. B. Haeufle, Rebecca Schüle, Martin A. Giese, Matthis Synofzik, Lüdger Schöls, Tim Rattay   +9 more
openalex   +1 more source

Guía práctica de evaluación de pacientes con ataxias y paraparesias espásticas hereditarias en consulta

Neurología
Resumen: Las ataxias hereditarias (AH) y paraparesias espásticas hereditarias son enfermedades raras, poco frecuentes en las consultas del neurólogo general.
F.J. Arpa Gutiérrez, M.J. Abenza Abildúa, I. Rouco Axpe, A.D. Adarmes Gómez, C. Serrano Munuera   +4 more
doaj   +1 more source