Outcome measures and biomarkers for clinical trials in hereditary spastic paraplegia: a scoping review

SF Siow, D Yeow, LI Rudaks, F Jia, G Wali, CM Sue… - Genes, 2023 - mdpi.com
Hereditary spastic paraplegia (HSP) is characterized by progressive lower limb spasticity.
There is no disease-modifying treatment currently available. Therefore, standardized …

Unveiling the modulation of Nogo receptor in neuroregeneration and plasticity: novel aspects and future horizon in a new frontier

BP Dave, KC Shah, MB Shah, MR Chorawala… - Biochemical …, 2023 - Elsevier
Neurodegenerative diseases (NDs) such as Alzheimer's, Parkinson's, Multiple Sclerosis,
Hereditary Spastic Paraplegia, and Amyotrophic Lateral Sclerosis have emerged as the …

The mutational profile in a South African cohort with inherited neuropathies and spastic paraplegia

AC Mahungu, E Steyn, N Floudiotis, LA Wilson… - Frontiers in …, 2023 - frontiersin.org
Introduction Limited diagnostics are available for inherited neuromuscular diseases (NMD)
in South Africa and (excluding muscle disease) are mainly aimed at the most frequent genes …

Power of NGS-based tests in HSP diagnosis: analysis of massively parallel sequencing in clinical practice

D Galatolo, R Trovato, A Scarlatti, S Rossi, G Natale… - neurogenetics, 2023 - Springer
Hereditary spastic paraplegia (HSP) refers to a group of heterogeneous neurological
disorders mainly characterized by corticospinal degeneration (pure forms), but sometimes …

Hereditary Spastic Paraplegia Type 11—Clinical, Genetic and Neuroimaging Characteristics

J Chojdak-Łukasiewicz, K Sulima, A Zimny… - International Journal of …, 2023 - mdpi.com
Hereditary spastic paraplegia (HSP) is a heterogeneous group of genetically determined
diseases, characterised by progressive spastic paraparesis of the lower limbs, associated …

Hereditary spastic paraplegia: Novel insights into the pathogenesis and management

WA Awuah, JK Tan, AD Shkodina… - SAGE Open …, 2024 - journals.sagepub.com
Hereditary spastic paraplegia is a genetically heterogeneous neurodegenerative disorder
characterised primarily by muscle stiffness in the lower limbs. Neurodegenerative disorders …

Clinical analysis in patients with SPG11 hereditary spastic paraplegia

YR Kang, TS Nam, JM Kim, KW Kang, SM Choi… - Frontiers in …, 2023 - frontiersin.org
Background To analyze the clinical phenotype of hereditary spastic paraplegia (HSP)
caused by SPG11 mutations (SPG11-HSP). Methods Among the 17 patients with sporadic …

Un approccio neuropragmatico all'esperienza multimodale: dal linguaggio letterale al linguaggio figurato in popolazioni tipiche e atipiche

F Frau - 2024 - tesidottorato.depositolegale.it
Current up-to-date theoretical models of semantic memory claim that word meaning is
organized in multiple modalities, including “amodal” information (eg, lexical, orthographic …