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Quoted phrase not found in phrase index: "Hereditary spastic paraplegia 35"
Page 1
Clinical and genetic spectrum of hereditary spastic paraplegia in Chinese children.
Wang J, Fang F, Ding C, Li J, Wu Y, Zhang W, Bao X, Lv J, Wang X, Ren X; Paediatric Neurology Study Group. Wang J, et al. Dev Med Child Neurol. 2023 Mar;65(3):416-423. doi: 10.1111/dmcn.15385. Epub 2022 Sep 15. Dev Med Child Neurol. 2023. PMID: 36109173 Free article.
AIM: To explore the clinical and genetic spectrum of hereditary spastic paraplegia (HSP) in Chinese children. METHOD: This retrospective study was conducted between January 2014 and October 2021 in children clinically diagnosed with either pure HSP (pHSP) or …
AIM: To explore the clinical and genetic spectrum of hereditary spastic paraplegia (HSP) in Chinese children. METHOD: T …
Cellular pathways of hereditary spastic paraplegia.
Blackstone C. Blackstone C. Annu Rev Neurosci. 2012;35:25-47. doi: 10.1146/annurev-neuro-062111-150400. Epub 2012 Apr 20. Annu Rev Neurosci. 2012. PMID: 22540978 Free PMC article. Review.
Human voluntary movement is controlled by the pyramidal motor system, a long CNS pathway comprising corticospinal and lower motor neurons. Hereditary spastic paraplegias (HSPs) are a large, genetically diverse group of inherited neurologic disorders characterized by …
Human voluntary movement is controlled by the pyramidal motor system, a long CNS pathway comprising corticospinal and lower motor neurons. …
Novel insights into the genetic profile of hereditary spastic paraplegia in India.
Narendiran S, Debnath M, Shivaram S, Kannan R, Sharma S, Christopher R, Seshagiri DV, Jain S, Purushottam M, Mangalore S, Bharath RD, Bindu PS, Sinha S, Taly AB, Nagappa M. Narendiran S, et al. J Neurogenet. 2022 Mar;36(1):21-31. doi: 10.1080/01677063.2022.2064463. Epub 2022 May 2. J Neurogenet. 2022. PMID: 35499206
The Hereditary Spastic Paraplegias (HSPs) are a group of clinically and genetically heterogeneous disorders characterized by length dependent degeneration of the corticospinal tracts. ...In nine patients, no genetic variants implicated in spastic paraplegi …
The Hereditary Spastic Paraplegias (HSPs) are a group of clinically and genetically heterogeneous disorders characterized by l …
Hereditary spastic paraplegia type 5: natural history, biomarkers and a randomized controlled trial.
Schöls L, Rattay TW, Martus P, Meisner C, Baets J, Fischer I, Jägle C, Fraidakis MJ, Martinuzzi A, Saute JA, Scarlato M, Antenora A, Stendel C, Höflinger P, Lourenco CM, Abreu L, Smets K, Paucar M, Deconinck T, Bis DM, Wiethoff S, Bauer P, Arnoldi A, Marques W, Jardim LB, Hauser S, Criscuolo C, Filla A, Züchner S, Bassi MT, Klopstock T, De Jonghe P, Björkhem I, Schüle R. Schöls L, et al. Brain. 2017 Dec 1;140(12):3112-3127. doi: 10.1093/brain/awx273. Brain. 2017. PMID: 29126212 Free PMC article. Clinical Trial.
Spastic paraplegia type 5 (SPG5) is a rare subtype of hereditary spastic paraplegia, a highly heterogeneous group of neurodegenerative disorders defined by progressive neurodegeneration of the corticospinal tract motor neurons. ...We thus demons …
Spastic paraplegia type 5 (SPG5) is a rare subtype of hereditary spastic paraplegia, a highly heterogeneo …
Genetic and Clinical Profile of Chinese Patients with Autosomal Dominant Spastic Paraplegia.
Zhao M, Chen YJ, Wang MW, Lin XH, Dong EL, Chen WJ, Wang N, Lin X. Zhao M, et al. Mol Diagn Ther. 2019 Dec;23(6):781-789. doi: 10.1007/s40291-019-00426-w. Mol Diagn Ther. 2019. PMID: 31630374
BACKGROUND: Hereditary spastic paraplegia (HSP) refers to a group of neurodegenerative disorders characterized by bilateral weakness, spasticity, and hyperreflexia in the lower limbs. ...CONCLUSION: Our work reveals a non-classical spastic paraplegi …
BACKGROUND: Hereditary spastic paraplegia (HSP) refers to a group of neurodegenerative disorders characterized by bilat …
Hereditary spastic paraplegia: a clinical and epidemiological study of a Brazilian pediatric population.
Ortega RPM, Rosemberg S. Ortega RPM, et al. Arq Neuropsiquiatr. 2019 Jan;77(1):10-18. doi: 10.1590/0004-282X20180153. Arq Neuropsiquiatr. 2019. PMID: 30758437 Free article.
AIMS: To investigate hereditary spastic paraplegia (HSP) in a pediatric Brazilian sample. ...The MRI abnormalities included nonspecific white matter lesions, cerebellar atrophy, thinning of the corpus callosum and the "ear of the lynx sign". CONCLUSIONS: In c …
AIMS: To investigate hereditary spastic paraplegia (HSP) in a pediatric Brazilian sample. ...The MRI abnormalities incl …
Prevalence of oropharyngeal dysphagia in hereditary spastic paraplegias.
Jacinto-Scudeiro LA, Machado GD, Ayres A, Burguêz D, Polese-Bonatto M, González-Salazar C, Siebert M, França Junior MC, Olchik MR, Saute JAM. Jacinto-Scudeiro LA, et al. Arq Neuropsiquiatr. 2019 Dec;77(12):843-847. doi: 10.1590/0004-282X20190180. Arq Neuropsiquiatr. 2019. PMID: 31939580 Free article.
OBJECTIVES: Hereditary spastic paraplegias (HSP) are a group of genetic diseases characterized by lower limb spasticity with or without additional neurological features. ...In addition, self-perception of dysphagia was assessed by the Eat Assessment Tool-10 and the …
OBJECTIVES: Hereditary spastic paraplegias (HSP) are a group of genetic diseases characterized by lower limb spasticity with o …
Iron-sensitive MR imaging of the primary motor cortex to differentiate hereditary spastic paraplegia from other motor neuron diseases.
Cosottini M, Donatelli G, Ricca I, Bianchi F, Frosini D, Montano V, Migaleddu G, Del Prete E, Tessa A, Cecchi P, D'Amelio C, Siciliano G, Mancuso M, Santorelli FM. Cosottini M, et al. Eur Radiol. 2022 Dec;32(12):8058-8064. doi: 10.1007/s00330-022-08865-6. Epub 2022 May 20. Eur Radiol. 2022. PMID: 35593959
OBJECTIVES: Hereditary spastic paraplegia (HSP) is a group of genetic neurodegenerative diseases characterised by upper motor neuron (UMN) impairment of the lower limbs. ...RESULTS: The marked hypointensity in the PMC was visible in 3/22 HSP patients (14%), 7 …
OBJECTIVES: Hereditary spastic paraplegia (HSP) is a group of genetic neurodegenerative diseases characterised by upper …
Alsin and the molecular pathways of amyotrophic lateral sclerosis.
Chandran J, Ding J, Cai H. Chandran J, et al. Mol Neurobiol. 2007 Dec;36(3):224-31. doi: 10.1007/s12035-007-0034-x. Epub 2007 Jul 10. Mol Neurobiol. 2007. PMID: 17955197 Free PMC article. Review.
Autosomal recessive mutations in the ALS2 gene lead to a clinical spectrum of motor dysfunction including juvenile onset amyotrophic lateral sclerosis (ALS2), primary lateral sclerosis, and hereditary spastic paraplegia. The 184-kDa alsin protein, encoded by …
Autosomal recessive mutations in the ALS2 gene lead to a clinical spectrum of motor dysfunction including juvenile onset amyotrophic lateral …
Prospective neuroimaging study in hereditary spastic paraplegia with thin corpus callosum.
França MC Jr, D'Abreu A, Maurer-Morelli CV, Seccolin R, Appenzeller S, Alessio A, Damasceno BP, Nucci A, Cendes F, Lopes-Cendes I. França MC Jr, et al. Mov Disord. 2007 Aug 15;22(11):1556-62. doi: 10.1002/mds.21480. Mov Disord. 2007. PMID: 17516453
Our objective was to estimate the frequency as well as to establish the clinical and neuroimaging profile of hereditary spastic paraplegia with thin corpus callosum (HSP-TCC). HSP-TCC was recognized as a specific clinical subtype of HSP and mapped to chromoso …
Our objective was to estimate the frequency as well as to establish the clinical and neuroimaging profile of hereditary spastic …
31 results