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Year Number of Results
1993 1
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2000 3
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2004 5
2005 2
2006 10
2007 4
2008 7
2009 9
2010 7
2011 6
2012 9
2013 3
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108 results

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Page 1
Hereditary spastic paraplegia: from diagnosis to emerging therapeutic approaches.
Shribman S, Reid E, Crosby AH, Houlden H, Warner TT. Shribman S, et al. Lancet Neurol. 2019 Dec;18(12):1136-1146. doi: 10.1016/S1474-4422(19)30235-2. Epub 2019 Jul 31. Lancet Neurol. 2019. PMID: 31377012 Review.
Hereditary spastic paraplegia (HSP) describes a heterogeneous group of genetic neurodegenerative diseases characterised by progressive spasticity of the lower limbs. The pathogenic mechanism, associated clinical features, and imaging abnormalities vary substantially …
Hereditary spastic paraplegia (HSP) describes a heterogeneous group of genetic neurodegenerative diseases characterised by progressive …
Hereditary spastic paraplegia: Genetic heterogeneity and common pathways.
Panza E, Meyyazhagan A, Orlacchio A. Panza E, et al. Exp Neurol. 2022 Nov;357:114203. doi: 10.1016/j.expneurol.2022.114203. Epub 2022 Aug 13. Exp Neurol. 2022. PMID: 35970204 Review.
Hereditary Spastic Paraplegias (HSPs) are a heterogeneous group of disease, mainly characterized by progressive spasticity and weakness of the lower limbs resulting from distal degeneration of corticospinal tract axons. ...
Hereditary Spastic Paraplegias (HSPs) are a heterogeneous group of disease, mainly characterized by progressive spasticity and …
Expanding the Spectrum of NUBPL-Related Leukodystrophy.
Tonduti D, Zambon AA, Ghezzi D, Lamantea E, Izzo R, Parazzini C, Baldoli C, van der Knaap MS, Fumagalli F. Tonduti D, et al. Neuropediatrics. 2023 Jun;54(3):161-166. doi: 10.1055/s-0043-1764214. Epub 2023 Mar 3. Neuropediatrics. 2023. PMID: 36868263 Review.
Genetic defects in NUBPL have been recognized as cause of a pediatric onset mitochondrial leukodystrophy characterized by onset at the end of the first year of life with motor delay or regression and cerebellar signs, followed by progressive spasticity. Early magnet …
Genetic defects in NUBPL have been recognized as cause of a pediatric onset mitochondrial leukodystrophy characterized by onset at the end o …
Genetic characterization of primary lateral sclerosis.
de Boer EMJ, de Vries BS, Pennings M, Kamsteeg EJ, Veldink JH, van den Berg LH, van Es MA. de Boer EMJ, et al. J Neurol. 2023 Aug;270(8):3970-3980. doi: 10.1007/s00415-023-11746-7. Epub 2023 May 3. J Neurol. 2023. PMID: 37133535 Free PMC article.
BACKGROUND AND OBJECTIVES: Primary lateral sclerosis (PLS) is a motor neuron disease characterised by loss of the upper motor neurons. Most patients present with slowly progressive spasticity of the legs, which may also spread to the arms or bulbar regions. ...
BACKGROUND AND OBJECTIVES: Primary lateral sclerosis (PLS) is a motor neuron disease characterised by loss of the upper motor neurons. Most …
Hereditary spastic paraplegias proteome: common pathways and pathogenetic mechanisms.
Martinello C, Panza E, Orlacchio A. Martinello C, et al. Expert Rev Proteomics. 2023 Jul-Dec;20(7-9):171-188. doi: 10.1080/14789450.2023.2260952. Epub 2023 Oct 16. Expert Rev Proteomics. 2023. PMID: 37788157 Review.
INTRODUCTION: Hereditary spastic paraplegias (HSPs) are a group of inherited neurodegenerative disorders characterized by progressive spasticity and weakness of the lower limbs. These conditions are caused by lesions in the neuronal pyramidal tract and exhibit clini …
INTRODUCTION: Hereditary spastic paraplegias (HSPs) are a group of inherited neurodegenerative disorders characterized by progressive …
Clinical features and management of hereditary spastic paraplegia.
Faber I, Servelhere KR, Martinez AR, D'Abreu A, Lopes-Cendes I, França MC Jr. Faber I, et al. Arq Neuropsiquiatr. 2014 Mar;72(3):219-26. doi: 10.1590/0004-282x20130248. Arq Neuropsiquiatr. 2014. PMID: 24676440 Free article. Review.
Hereditary spastic paraplegia (HSP) is a group of genetically-determined disorders characterized by progressive spasticity and weakness of lower limbs. An apparently sporadic case of adult-onset spastic paraplegia is a frequent clinical problem and a significant pro …
Hereditary spastic paraplegia (HSP) is a group of genetically-determined disorders characterized by progressive spasticity and …
Spastin and microtubules: Functions in health and disease.
Salinas S, Carazo-Salas RE, Proukakis C, Schiavo G, Warner TT. Salinas S, et al. J Neurosci Res. 2007 Sep;85(12):2778-82. doi: 10.1002/jnr.21238. J Neurosci Res. 2007. PMID: 17348041 Review.
This group of neurodegenerative diseases is characterized by a progressive spasticity and lower limb weakness with degeneration of terminal axons in cortico-spinal tracts and dorsal columns. ...
This group of neurodegenerative diseases is characterized by a progressive spasticity and lower limb weakness with degeneratio …
Amplifying the spectrum of SPAST gene mutations.
Verriello L, Lonigro IR, Pessa ME, Betto E, Pauletto G, Fogolari F, Gigli GL, Curcio F. Verriello L, et al. Acta Biomed. 2021 Nov 18;92(S1):e2021220. doi: 10.23750/abm.v92iS1.11608. Acta Biomed. 2021. PMID: 35132972 Free PMC article.
Hereditary spastic paraplegias (HSPs) include a group of neurodegenerative disorders characterized by slowly progressive spasticity and weakness of the lower extremities, caused by axon degeneration of corticospinal tracts. ...
Hereditary spastic paraplegias (HSPs) include a group of neurodegenerative disorders characterized by slowly progressive spasticit …
Revisiting genotype-phenotype overlap in neurogenetics: triplet-repeat expansions mimicking spastic paraplegias.
Bettencourt C, Quintáns B, Ros R, Ampuero I, Yáñez Z, Pascual SI, de Yébenes JG, Sobrido MJ. Bettencourt C, et al. Hum Mutat. 2012 Sep;33(9):1315-23. doi: 10.1002/humu.22148. Epub 2012 Jul 16. Hum Mutat. 2012. PMID: 22753388 Review.
Hereditary spastic paraplegias (HSPs) constitute a heterogeneous group of neurological disorders, characterized primarily by progressive spasticity and weakness of the lower limbs. HSPs are caused by mutations in multiple genes (at least 48 loci and 28 causative gen …
Hereditary spastic paraplegias (HSPs) constitute a heterogeneous group of neurological disorders, characterized primarily by progressive …
Hereditary spastic paraplegia: clinical features and pathogenetic mechanisms.
Salinas S, Proukakis C, Crosby A, Warner TT. Salinas S, et al. Lancet Neurol. 2008 Dec;7(12):1127-38. doi: 10.1016/S1474-4422(08)70258-8. Lancet Neurol. 2008. PMID: 19007737 Review.
Hereditary spastic paraplegia (HSP) describes a heterogeneous group of genetic neurodegenerative disorders in which the most severely affected neurons are those of the spinal cord. These disorders are characterised clinically by progressive spasticity and weakness o …
Hereditary spastic paraplegia (HSP) describes a heterogeneous group of genetic neurodegenerative disorders in which the most severely affect …
108 results