Results 111 to 120 of about 16,402 (224)

Late-Onset Leukodystrophy Mimicking Hereditary Spastic Paraplegia without Diffuse Leukodystrophy on Neuroimaging

Neuropsychiatric Disease and Treatment, 2021
Tongxia Zhang,1,2 Chuanzhu Yan,1,3 Yiming Liu,1 Lili Cao,1 Kunqian Ji,1 Duoling Li,1 Lingyi Chi,2,4,5 Yuying Zhao1 1Research Institute of Neuromuscular and Neurodegenerative Diseases and Department of Neurology, Qilu Hospital, Shandong University, Jinan,
Zhang T, Yan C, Liu Y, Cao L, Ji K, Li D, Chi L, Zhao Y   +7 more
doaj  

Truncating mutations inSPASTpatients are associated with a high rate of psychiatric comorbidities in hereditary spastic paraplegia [PDF]

, 2017
Viorica Chelban, Arianna Tucci, David S. Lynch, James M. Polke, Liana Santos, Hallgeir Jonvik, Stanislav Groppa, Nicholas Wood, Henry Houlden   +8 more
openalex   +1 more source

Hereditary spastic paraplegia in Greece: characterisation of a previously unexplored population using next-generation sequencing [PDF]

, 2016
Hereditary Spastic Paraplegia (HSP) is a syndrome characterised by lower limb spasticity, occurring alone or in association with other neurological manifestations, such as cognitive impairment, seizures, ataxia or neuropathy.
Baklou, M, Breza, M, Houlden, H, Karadima, G, Koutsis, G, Lynch, DS, Panas, M, Tucci, A   +7 more
core  

“Ears of the Lynx” Sign on Brain MRI in Siblings With Spastic Paraplegia: A Case Report

Annals of the Child Neurology Society
Background Hereditary spastic paraplegia (HSP) is a rare, clinically and genetically heterogenous condition that selectively affects the terminal segment of the descending corticospinal tract of the lumbar spine area, causing lower extremity spastic ...
Qingqing Wang, Manikum Moodley
doaj   +1 more source

Next Generation Molecular Diagnosis of Hereditary Spastic Paraplegias: An Italian Cross-Sectional Study [PDF]

, 2018
Angelica D’Amore, Alessandra Tessa, Carlo Casali, Maria Teresa Dotti, Alessandro Filla, Gabriella Silvestri, Antonella Antenora, Guja Astrea, Melissa Barghigiani, Roberta Battini, Carla Battisti, Irene Bruno, Cristina Cereda, Clemente Dato, Giuseppe Di Iorio, Vincenzo Donadio, Monica Felicori, Nicola Fini, Chiara Fiorillo, Salvatore Gallone, Federica Gemignani, Gian Luigi Gigli, Claudio Graziano, Renzo Guerrini, Fiorella Gurrieri, Ariana Kariminejad, Maria Lieto, Charles Marques Lourenço, Alessandro Malandrini, Paola Mandich, Christian Marcotulli, Francesco Mari, Luca Massacesi, Mariarosa Anna Beatrice Melone, Andrea Mignarri, Roberta Milone, Olimpia Musumeci, Elena Pegoraro, Alessia Perna, Antonio Petrucci, Alessandro Pini, Francesca Pochiero, Maria Roser Pons, Ivana Ricca, Salvatore Rossi, Marco Seri, Franco Stanzial, Francesca Tinelli, António Toscano, Mariarosaria Valente, Antonio Federico, Anna Rubegni, Filippo M. Santorelli   +52 more
openalex   +1 more source

AP4B1-associated hereditary spastic paraplegia: Expansion of clinico-genetic phenotype and geographic range

, 2022
Kamran Salayev, Clarissa Rocca, Rauan Kaiyrzhanov, Ulviyya Guliyeva, Sughra Guliyeva, Aytan Mursalova, Fatima Rahman, Najwa Anwar, Faisal Zafar, Farida Jan, Nuzhat Rana, Shazia Maqbool, Stéphanie Efthymiou, Henry Houlden   +13 more
openalex   +2 more sources

Correction to: TMEM63C mutations cause mitochondrial morphology defects and underlie hereditary spastic paraplegia [PDF]

, 2022

openalex   +1 more source

SIGMAR1 mutation associated with autosomal recessive Silver-like syndrome [PDF]

, 2016
OBJECTIVE: To describe the genetic and clinical features of a simplex patient with distal hereditary motor neuropathy (dHMN) and lower limb spasticity (Silver-like syndrome) due to a mutation in the sigma nonopioid intracellular receptor-1 gene (SIGMAR1)
Blake, JC, Gonzalez, MA, Hanna, MG, Horga, A, Houlden, H, Laurà, M, Manzur, AY, Muntoni, F, Reilly, MM, Tomaselli, PJ, Züchner, S   +10 more
core  

Tremor as an early sign of hereditary spastic paraplegia due to mutations in ALDH18A1 [PDF]

, 2020
Tibor Kalmár, Zoltán Maróti, Alíz Zimmermann, László Sztriha   +3 more
openalex   +1 more source

Disruption of Intracellular Calcium Homeostasis Leads to ERLIN2-Linked Hereditary Spastic Paraplegia in Patient-Derived Stem Cell Models [PDF]

, 2023
Xintong Zhu, Xiaoyin Tan, Junwen Wang, Limeng Dai, Jia Li, Xingying Guan, Ziyi Wang, Mao Zhang, Jun Hu, Yun Bai, Hong Guo   +10 more
openalex   +1 more source