[HTML][HTML] Hereditary spastic paraplegia: clinical-genetic characteristics and evolving molecular mechanisms
TL Giudice, F Lombardi, FM Santorelli, T Kawarai… - Experimental …, 2014 - Elsevier
Hereditary spastic paraplegia (HSP) is a group of clinically and genetically heterogeneous
neurological disorders characterized by pathophysiologic hallmark of length-dependent …
neurological disorders characterized by pathophysiologic hallmark of length-dependent …
Clinical and genetic heterogeneity in hereditary spastic paraplegias: from SPG1 to SPG72 and still counting
S Klebe, G Stevanin, C Depienne - Revue neurologique, 2015 - Elsevier
Hereditary spastic paraplegias (HSPs) are genetically determined neurodegenerative
disorders characterized by progressive weakness and spasticity of lower limbs, and are …
disorders characterized by progressive weakness and spasticity of lower limbs, and are …
Hereditary spastic paraplegia type 5: natural history, biomarkers and a randomized controlled trial
Abstract Spastic paraplegia type 5 (SPG5) is a rare subtype of hereditary spastic paraplegia,
a highly heterogeneous group of neurodegenerative disorders defined by progressive …
a highly heterogeneous group of neurodegenerative disorders defined by progressive …
Next generation molecular diagnosis of hereditary spastic paraplegias: an Italian cross-sectional study
Hereditary spastic paraplegia (HSP) refers to a group of genetically heterogeneous
neurodegenerative motor neuron disorders characterized by progressive age-dependent …
neurodegenerative motor neuron disorders characterized by progressive age-dependent …
Loss of association of REEP2 with membranes leads to hereditary spastic paraplegia
Hereditary spastic paraplegias (HSPs) are clinically and genetically heterogeneous
neurological conditions. Their main pathogenic mechanisms are thought to involve …
neurological conditions. Their main pathogenic mechanisms are thought to involve …
Massive sequencing of 70 genes reveals a myriad of missing genes or mechanisms to be uncovered in hereditary spastic paraplegias
S Morais, L Raymond, M Mairey, P Coutinho… - European Journal of …, 2017 - nature.com
Hereditary spastic paraplegias (HSP) are neurodegenerative disorders characterized by
lower limb spasticity and weakness that can be complicated by other neurological or non …
lower limb spasticity and weakness that can be complicated by other neurological or non …
Challenges and controversies in the genetic diagnosis of hereditary spastic paraplegia
L Saputra, KR Kumar - Current neurology and neuroscience reports, 2021 - Springer
Abstract Purpose of Review The hereditary spastic paraplegias (HSPs) are a group of
disorders characterised by progressive lower limb weakness and spasticity. We address the …
disorders characterised by progressive lower limb weakness and spasticity. We address the …
SPG7 mutations explain a significant proportion of French Canadian spastic ataxia cases
K Choquet, M Tétreault, S Yang, R La Piana… - European Journal of …, 2016 - nature.com
Hereditary cerebellar ataxias and hereditary spastic paraplegias are clinically and
genetically heterogeneous and often overlapping neurological disorders. Mutations in SPG7 …
genetically heterogeneous and often overlapping neurological disorders. Mutations in SPG7 …
Clinical validation of targeted next-generation sequencing for inherited disorders
S Yohe, A Hauge, K Bunjer… - … of Pathology and …, 2015 - meridian.allenpress.com
Context Although next-generation sequencing (NGS) can revolutionize molecular
diagnostics, several hurdles remain in the implementation of this technology in clinical …
diagnostics, several hurdles remain in the implementation of this technology in clinical …
Next-generation sequencing study reveals the broader variant spectrum of hereditary spastic paraplegia and related phenotypes
E Elert-Dobkowska, I Stepniak, W Krysa… - neurogenetics, 2019 - Springer
Hereditary spastic paraplegias (HSPs) are clinically and genetically heterogeneous
neurodegenerative disorders. Numerous genes linked to HSPs, overlapping phenotypes …
neurodegenerative disorders. Numerous genes linked to HSPs, overlapping phenotypes …