Unraveling Isoform Complexity: The Roles of M1‐and M87‐Spastin in Spastic Paraplegia 4 (SPG4)
S Ramakrishnan, N Mohan, Z Dong, M Liu… - Movement …, 2024 - Wiley Online Library
Abstract Spastic Paraplegia 4 (SPG4) is a debilitating neurodegenerative disorder
characterized by progressive muscle weakness and spasticity in the lower limbs, often …
characterized by progressive muscle weakness and spasticity in the lower limbs, often …
Metabolite profile in hereditary spastic paraplegia analyzed using magnetic resonance spectroscopy: a cross-sectional analysis in a longitudinal study
Background Hereditary Spastic Paraplegias (HSP) are genetic neurodegenerative disorders
affecting the corticospinal tract. No established neuroimaging biomarker is associated with …
affecting the corticospinal tract. No established neuroimaging biomarker is associated with …
[HTML][HTML] Generation of a human induced pluripotent stem cell line (FSMi001-A) from fibroblasts of a patient carrying heterozygous mutation in the REEP1 gene
M Baggiani, FM Santorelli, S Mero, F Privitera… - Stem Cell Research, 2024 - Elsevier
Hereditary spastic paraplegias (HSPs) a group of rare, clinically, and genetically
heterogeneous disorders characterized by progressive degeneration of the corticospinal …
heterogeneous disorders characterized by progressive degeneration of the corticospinal …
[HTML][HTML] Generation and Characterization of hiPS Lines from Three Patients Affected by Different Forms of HPDL-Related Neurological Disorders
M Baggiani, D Damiani, F Privitera… - International Journal of …, 2024 - mdpi.com
Hereditary spastic paraplegias are rare genetic disorders characterized by corticospinal tract
impairment. Spastic paraplegia 83 (SPG83) is associated with biallelic mutations in the …
impairment. Spastic paraplegia 83 (SPG83) is associated with biallelic mutations in the …