Cell type–specific gene therapy confers protection against motor neuron disease caused by a TFG variant
MM Lettman, CA Mendina, E Burkard, JR Alvin… - Proceedings of the …, 2024 - pnas.org
Inherited forms of motor neuron disease (MND), including hereditary spastic paraplegias
(HSP), are associated with the death or dysfunction of nerve cells that control skeletal …
(HSP), are associated with the death or dysfunction of nerve cells that control skeletal …
A pseudo‐homozygous missense variant and Alu‐mediated exon 5 deletion in FARS2 causing spastic paraplegia 77
SH Lin, JH Xie, JY Jiang, XY Yan… - Annals of Clinical …, 2024 - Wiley Online Library
FARS2‐associated hereditary spastic paraplegia, later onset spastic paraplegia type 77, is a
rarely neurodegenerative disease. Here, we reported two affected siblings in an autosomal …
rarely neurodegenerative disease. Here, we reported two affected siblings in an autosomal …
Metabolite profile in hereditary spastic paraplegia analyzed using magnetic resonance spectroscopy: a cross-sectional analysis in a longitudinal study
D Montanaro, M Vavla, F Frijia, A Coi… - Frontiers in …, 2024 - frontiersin.org
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 …
A novel variant (p.A524P) in Spastin is responsible for a Chinese family with hereditary spastic paraplegia
YH Jin, YZ Xiang, MF Zhao, YH Liu, LL Fan… - Molecular Biology …, 2024 - Springer
Background Hereditary spastic paraplegia (HSP) represents a group of monogenic
neurodegenerative disorders characterized by high clinical and genetic heterogeneity. HSP …
neurodegenerative disorders characterized by high clinical and genetic heterogeneity. HSP …
Identification of a novel MAG gene mutation with 22q11. 21 microduplication linked to hereditary spastic paraplegia
M Kavishwar, P Bisen, S Baheti… - BMJ Case Reports …, 2024 - casereports.bmj.com
Diagnosing hereditary spastic paraplegia (HSP) in paediatric patients can be challenging,
especially when there is no positive family history. Children are often initially misdiagnosed …
especially when there is no positive family history. Children are often initially misdiagnosed …
Caracterização clínico genética e através de métodos avançados de neuroimagem das paraparesias espásticas hereditárias
H Fussiger - 2024 - lume.ufrgs.br
Introdução: As paraparesias espásticas hereditárias (PEH) constituem um grupo de
doenças neurodegenerativas monogênicas com grande heterogeneidade clínica e …
doenças neurodegenerativas monogênicas com grande heterogeneidade clínica e …
Complejidad de las bases moleculares de trastornos del movimiento. Caracterización de la enfermedad neurodegenerativa asociada a PRDX3
MD Martínez Rubio - 2024 - roderic.uv.es
Los trastornos del movimiento monogénicos engloban síndromes neurológicos raros
vinculados principalmente a la disfunción de ganglios basales y cerebelo. Su diagnóstico …
vinculados principalmente a la disfunción de ganglios basales y cerebelo. Su diagnóstico …
[引用][C] Ears of the Lynx on Neuroimaging in a Patient with COQ4‐Associated Hereditary Spastic Paraplegia
Z Yu, R Wang, S Yu, X Wang - Movement Disorders Clinical Practice - Wiley Online Library