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Quoted phrase not found in phrase index: "Hereditary spastic paraplegia 26"
Page 1
Hereditary spastic paraplegia in Mali: epidemiological and clinical features.
Diarra S, Coulibaly T, Dembélé K, Ngouth N, Cissé L, Diallo SH, Ouologuem M, Diallo S, Coulibaly O, Bagayoko K, Coulibaly D, Simaga A, Sango HA, Traoré M, Jacobson S, Fischbeck KH, Landouré G, Guinto CO; H3Africa consortium. Diarra S, et al. Acta Neurol Belg. 2023 Dec;123(6):2155-2165. doi: 10.1007/s13760-022-02113-w. Epub 2022 Nov 17. Acta Neurol Belg. 2023. PMID: 36396882
BACKGROUND AND PURPOSE: Hereditary spastic paraplegia (HSP) is a group of neurodegenerative diseases divided into pure and complex forms, with spasticity in lower limbs only, or associated with other neurologic and non-neurologic manifestations, respectively. …
BACKGROUND AND PURPOSE: Hereditary spastic paraplegia (HSP) is a group of neurodegenerative diseases divided into pure …
The prodromal phase of hereditary spastic paraplegia type 4: the preSPG4 cohort study.
Rattay TW, Völker M, Rautenberg M, Kessler C, Wurster I, Winter N, Haack TB, Lindig T, Hengel H, Synofzik M, Schüle R, Martus P, Schöls L. Rattay TW, et al. Brain. 2023 Mar 1;146(3):1093-1102. doi: 10.1093/brain/awac155. Brain. 2023. PMID: 35472722
This cohort study aimed to characterize the prodromal phase of hereditary spastic paraplegia type 4 (SPG4) using biomarkers and clinical signs and symptoms that develop before manifest gait abnormalities. Fifty-six first-degree relatives at risk of developing …
This cohort study aimed to characterize the prodromal phase of hereditary spastic paraplegia type 4 (SPG4) using biomar …
Hereditary spastic paraplegia.
Dennis SC, Green NE. Dennis SC, et al. J Pediatr Orthop. 1988 Jul-Aug;8(4):413-7. doi: 10.1097/01241398-198807000-00006. J Pediatr Orthop. 1988. PMID: 3392192
Hereditary spastic paraplegia is a genetically transmitted disease that is usually autosomal dominant. Characterized by a slow progression of spastic paraparesis, it is frequently misdiagnosed as cerebral palsy. ...
Hereditary spastic paraplegia is a genetically transmitted disease that is usually autosomal dominant. Characterized by …
Gait phenotypes in paediatric hereditary spastic paraplegia revealed by dynamic time warping analysis and random forests.
Pulido-Valdeolivas I, Gómez-Andrés D, Martín-Gonzalo JA, Rodríguez-Andonaegui I, López-López J, Pascual-Pascual SI, Rausell E. Pulido-Valdeolivas I, et al. PLoS One. 2018 Mar 8;13(3):e0192345. doi: 10.1371/journal.pone.0192345. eCollection 2018. PLoS One. 2018. PMID: 29518090 Free PMC article.
The Hereditary Spastic Paraplegias (HSP) are a group of heterogeneous disorders with a wide spectrum of underlying neural pathology, and hence HSP patients express a variety of gait abnormalities. ...Random forests can estimate which are the most important isolated …
The Hereditary Spastic Paraplegias (HSP) are a group of heterogeneous disorders with a wide spectrum of underlying neural path …
Autosomal dominant spastic paraplegias: a review of 89 families resulting from a portuguese survey.
Loureiro JL, Brandão E, Ruano L, Brandão AF, Lopes AM, Thieleke-Matos C, Miller-Fleming L, Cruz VT, Barbosa M, Silveira I, Stevanin G, Pinto-Basto J, Sequeiros J, Alonso I, Coutinho P. Loureiro JL, et al. JAMA Neurol. 2013 Apr;70(4):481-7. doi: 10.1001/jamaneurol.2013.1956. JAMA Neurol. 2013. PMID: 23400676 Review.
IMPORTANCE: Hereditary spastic paraplegias (HSPs) are a group of diseases caused by corticospinal tract degeneration. ...DESIGN: Retrospective medical record review. SETTING: A population-based systematic survey of hereditary ataxias and spastic parapl …
IMPORTANCE: Hereditary spastic paraplegias (HSPs) are a group of diseases caused by corticospinal tract degeneration. ...DESIG …
SPG5 and multiple sclerosis: clinical and genetic overlap?
Criscuolo C, Carbone R, Lieto M, Peluso S, Guacci A, Filla A, Quarantelli M, Lanzillo R, Morra VB, De Michele G. Criscuolo C, et al. Acta Neurol Scand. 2016 Jun;133(6):410-4. doi: 10.1111/ane.12476. Epub 2015 Sep 15. Acta Neurol Scand. 2016. PMID: 26370385
BACKGROUND: Autosomal recessive (AR) spastic paraplegia type 5 (SPG5) is due to mutations in the CYP7B1 gene, encoding for the cytochrome P450-7B1, responsible for oxysterols 7alpha-hydroxylation. ...METHODS: One hundred and seventeen MS patients with clinical sp …
BACKGROUND: Autosomal recessive (AR) spastic paraplegia type 5 (SPG5) is due to mutations in the CYP7B1 gene, encoding for the …
Longitudinal quantitative magnetic resonance imaging in adrenomyeloneuropathy.
Politi LS, Castellano A, Papinutto N, Mauro E, Pareyson D, Henry RG, Falini A, Salsano E. Politi LS, et al. Eur J Neurol. 2019 Oct;26(10):1341-1344. doi: 10.1111/ene.13959. Epub 2019 May 2. Eur J Neurol. 2019. PMID: 30932272
BACKGROUND AND PURPOSE: Adrenomyeloneuropathy (AMN) is the most frequent metabolic hereditary spastic paraplegia. Accordingly, its main site of pathological changes is the spinal cord. ...Despite the limitation of the results due to the small number of invest …
BACKGROUND AND PURPOSE: Adrenomyeloneuropathy (AMN) is the most frequent metabolic hereditary spastic paraplegia. Accor …
Stumbling, struggling, and shame due to spasticity: a qualitative study of adult persons with hereditary spastic paraplegia.
Kerstens HCJW, Satink T, Nijkrake MJ, De Swart BJM, Van Lith BJH, Geurts ACH, Nijhuis-van der Sanden MWG. Kerstens HCJW, et al. Disabil Rehabil. 2020 Dec;42(26):3744-3751. doi: 10.1080/09638288.2019.1610084. Epub 2019 May 13. Disabil Rehabil. 2020. PMID: 31079503
This study aims to investigate these lacunas in persons with a pure form of hereditary spastic paraplegia (HSP), in whom spasticity is a prominent symptom.Methods: Fourteen patients with a pure form of HSP were interviewed. ...Patient-reported outcomes might …
This study aims to investigate these lacunas in persons with a pure form of hereditary spastic paraplegia (HSP), in who …
Structural annotation of Beta-1,4-N-acetyl galactosaminyltransferase 1 (B4GALNT1) causing Hereditary Spastic Paraplegia 26.
Dad R, Malik U, Javed A, Minassian BA, Hassan MJ. Dad R, et al. Gene. 2017 Aug 30;626:258-263. doi: 10.1016/j.gene.2017.05.041. Epub 2017 May 20. Gene. 2017. PMID: 28536081
Beta-1,4-N-acetyl galactosaminyltransferase 1, B4GALNT1, is a GM2/GD2 synthase, involved in the expression of glycosphingolipids (GSLs) containing sialic acid. Mutations in the gene B4GALNT1 cause Hereditary Spastic Paraplegia 26 (HSP26). In present study we …
Beta-1,4-N-acetyl galactosaminyltransferase 1, B4GALNT1, is a GM2/GD2 synthase, involved in the expression of glycosphingolipids (GSLs) cont …
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.
The low reproducibility and wide variation in accuracy reflect the subjective nature of the test. Pooled sensitivity, specificity, positive and negative predictive values were 80%, 92%, 10% and 99%, respectively, for detecting cervical intraepithelial neoplasia grade 2 or …
The low reproducibility and wide variation in accuracy reflect the subjective nature of the test. Pooled sensitivity, specificity, positive …
18 results