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Quoted phrase not found in phrase index: "Hereditary spastic paraplegia 35"
Page 1
Clinical and genetic spectra of 1550 index patients with hereditary spastic paraplegia.
Méreaux JL, Banneau G, Papin M, Coarelli G, Valter R, Raymond L, Kol B, Ariste O, Parodi L, Tissier L, Mairey M, Ait Said S, Gautier C, Guillaud-Bataille M; French SPATAX clinical network; Forlani S, de la Grange P, Brice A, Vazza G, Durr A, Leguern E, Stevanin G. Méreaux JL, et al. Brain. 2022 Apr 29;145(3):1029-1037. doi: 10.1093/brain/awab386. Brain. 2022. PMID: 34983064 Free article.
Hereditary spastic paraplegia refers to rare genetic neurodevelopmental and/or neurodegenerative disorders in which spasticity due to length-dependent damage to the upper motor neuron is a core sign. ...We report here the clinical and genetic results of 1550 …
Hereditary spastic paraplegia refers to rare genetic neurodevelopmental and/or neurodegenerative disorders in which spa …
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 …
Hartnup disease presenting as hereditary spastic paraplegia and severe peripheral neuropathy.
Wang X, Li XY, Piao Y, Yuan G, Lin Y, Chen H, Wang Z, Li C, Wang C. Wang X, et al. Am J Med Genet A. 2022 Jan;188(1):237-242. doi: 10.1002/ajmg.a.62475. Epub 2021 Aug 30. Am J Med Genet A. 2022. PMID: 34459558
Other than intermittent encephalopathy and photosensitive rashes, they displayed symptoms and signs of spastic paraplegia and severe peripheral nerve damages. Magnetic resonance imaging showed mild bilateral cerebellar atrophy and thinning of the thoracic spinal cor …
Other than intermittent encephalopathy and photosensitive rashes, they displayed symptoms and signs of spastic paraplegia and …
Nationwide prevalence of primary dystonia, progressive ataxia and hereditary spastic paraplegia.
Hellberg C, Alinder E, Jaraj D, Puschmann A. Hellberg C, et al. Parkinsonism Relat Disord. 2019 Dec;69:79-84. doi: 10.1016/j.parkreldis.2019.10.028. Epub 2019 Oct 29. Parkinsonism Relat Disord. 2019. PMID: 31706130
OBJECTIVE: To determine the nationwide prevalence of primary dystonia, ataxia and hereditary spastic paraplegia (HSP) in Sweden. METHODS: We extracted data on all patients who were registered in The National Patient Register (NPR) in Sweden (population 9.64 m …
OBJECTIVE: To determine the nationwide prevalence of primary dystonia, ataxia and hereditary spastic paraplegia (HSP) i …
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 type 35 caused by a novel FA2H mutation.
Bektaş G, Yeşil G, Yıldız EP, Aydınlı N, Çalışkan M, Özmen M. Bektaş G, et al. Turk J Pediatr. 2017;59(3):329-334. doi: 10.24953/turkjped.2017.03.016. Turk J Pediatr. 2017. PMID: 29376581 Free article.
Bektas G, Yesil G, Yildiz EP, Aydinli N, Caliskan M, Ozmen M. Hereditary spastic paraplegia type 35 caused by a novel FA2H mutation. Turk J Pediatr 2017; 59: 329-334. Hereditary spastic paraplegia type 35 (SPG35) is a rare d …
Bektas G, Yesil G, Yildiz EP, Aydinli N, Caliskan M, Ozmen M. Hereditary spastic paraplegia type 35 caused by a …
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 …
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 …
Hereditary "pure" spastic paraplegia: a clinical and genetic study of 22 families.
Harding AE. Harding AE. J Neurol Neurosurg Psychiatry. 1981 Oct;44(10):871-83. doi: 10.1136/jnnp.44.10.871. J Neurol Neurosurg Psychiatry. 1981. PMID: 7310405 Free PMC article.
In 22 families with the "pure" form of hereditary spastic paraplegia inheritance was autosomal dominant in 19 and autosomal recessive in three. Examination of intrafamilial correlation of age of onset in the dominant cases suggested that the disorder is genet …
In 22 families with the "pure" form of hereditary spastic paraplegia inheritance was autosomal dominant in 19 and autos …
Visual inspection methods for cervical cancer prevention.
Sankaranarayanan R, Nessa A, Esmy PO, Dangou JM. Sankaranarayanan R, et al. Best Pract Res Clin Obstet Gynaecol. 2012 Apr;26(2):221-32. doi: 10.1016/j.bpobgyn.2011.08.003. Epub 2011 Nov 9. Best Pract Res Clin Obstet Gynaecol. 2012. PMID: 22075441 Review.
A single round of visual inspection with acetic acid screening has been associated with a 25-35% reduction in cervical cancer incidence and the frequency of cervical intraepithelial neoplasia grade 2 or worse lesions in randomised-controlled trials. ...
A single round of visual inspection with acetic acid screening has been associated with a 25-35% reduction in cervical cancer inciden …
38 results