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Quoted phrase not found in phrase index: "Hereditary spastic paraplegia 56"
Page 1
The global epidemiology of hereditary ataxia and spastic paraplegia: a systematic review of prevalence studies.
Ruano L, Melo C, Silva MC, Coutinho P. Ruano L, et al. Neuroepidemiology. 2014;42(3):174-83. doi: 10.1159/000358801. Epub 2014 Mar 5. Neuroepidemiology. 2014. PMID: 24603320 Free article. Review.
BACKGROUND: Hereditary cerebellar ataxias (HCA) and hereditary spastic paraplegias (HSP) are two groups of neurodegenerative disorders that usually present with progressive gait impairment, often leading to permanent disability. ...The prevalence of autosomal …
BACKGROUND: Hereditary cerebellar ataxias (HCA) and hereditary spastic paraplegias (HSP) are two groups of neurodegener …
Retinal ganglion cell and microvascular density loss in hereditary spastic paraplegia.
Turski GN, Turski CA, Grobe-Einsler M, Kobeleva X, Turski JS, Holz FG, Finger RP, Klockgether T. Turski GN, et al. Restor Neurol Neurosci. 2023;41(5-6):229-239. doi: 10.3233/RNN-231380. Restor Neurol Neurosci. 2023. PMID: 38217556 Free PMC article.
BACKGROUND: Hereditary spastic paraplegia (HSP) is characterized by progressive degeneration of distal axons in the long corticospinal tracts. ...METHODS: Fifteen patients with HSP and 30 healthy controls were included in this cross-sectional case-control stu …
BACKGROUND: Hereditary spastic paraplegia (HSP) is characterized by progressive degeneration of distal axons in the lon …
Defining the clinical, molecular and imaging spectrum of adaptor protein complex 4-associated hereditary spastic paraplegia.
Ebrahimi-Fakhari D, Teinert J, Behne R, Wimmer M, D'Amore A, Eberhardt K, Brechmann B, Ziegler M, Jensen DM, Nagabhyrava P, Geisel G, Carmody E, Shamshad U, Dies KA, Yuskaitis CJ, Salussolia CL, Ebrahimi-Fakhari D, Pearson TS, Saffari A, Ziegler A, Kölker S, Volkmann J, Wiesener A, Bearden DR, Lakhani S, Segal D, Udwadia-Hegde A, Martinuzzi A, Hirst J, Perlman S, Takiyama Y, Xiromerisiou G, Vill K, Walker WO, Shukla A, Dubey Gupta R, Dahl N, Aksoy A, Verhelst H, Delgado MR, Kremlikova Pourova R, Sadek AA, Elkhateeb NM, Blumkin L, Brea-Fernández AJ, Dacruz-Álvarez D, Smol T, Ghoumid J, Miguel D, Heine C, Schlump JU, Langen H, Baets J, Bulk S, Darvish H, Bakhtiari S, Kruer MC, Lim-Melia E, Aydinli N, Alanay Y, El-Rashidy O, Nampoothiri S, Patel C, Beetz C, Bauer P, Yoon G, Guillot M, Miller SP, Bourinaris T, Houlden H, Robelin L, Anheim M, Alamri AS, Mahmoud AAH, Inaloo S, Habibzadeh P, Faghihi MA, Jansen AC, Brock S, Roubertie A, Darras BT, Agrawal PB, Santorelli FM, Gleeson J, Zaki MS, Sheikh SI, Bennett JT, Sahin M. Ebrahimi-Fakhari D, et al. Brain. 2020 Oct 1;143(10):2929-2944. doi: 10.1093/brain/awz307. Brain. 2020. PMID: 32979048 Free PMC article.
Bi-allelic loss-of-function variants in genes that encode subunits of the adaptor protein complex 4 (AP-4) lead to prototypical yet poorly understood forms of childhood-onset and complex hereditary spastic paraplegia: SPG47 (AP4B1), SPG50 (AP4M1), SPG51 (AP4E …
Bi-allelic loss-of-function variants in genes that encode subunits of the adaptor protein complex 4 (AP-4) lead to prototypical yet poorly u …
Targeted next-generation sequencing improves diagnosis of hereditary spastic paraplegia in Chinese patients.
Lu C, Li LX, Dong HL, Wei Q, Liu ZJ, Ni W, Gitler AD, Wu ZY. Lu C, et al. J Mol Med (Berl). 2018 Jul;96(7):701-712. doi: 10.1007/s00109-018-1655-4. Epub 2018 Jun 11. J Mol Med (Berl). 2018. PMID: 29934652
Hereditary spastic paraplegia (HSP) is a heterogeneous group of neurodegenerative diseases characterized by progressive weakness and spasticity of lower limbs. ...Of them, one was de novo mutation (NIPA1: c.316G>A). SPAST mutations (22/39, 56.4%) ar …
Hereditary spastic paraplegia (HSP) is a heterogeneous group of neurodegenerative diseases characterized by progressive …
Bile acid analysis in human disorders of bile acid biosynthesis.
Vaz FM, Ferdinandusse S. Vaz FM, et al. Mol Aspects Med. 2017 Aug;56:10-24. doi: 10.1016/j.mam.2017.03.003. Epub 2017 Mar 22. Mol Aspects Med. 2017. PMID: 28322867 Review.
Disorders of bile acid synthesis can present from the neonatal period to adulthood and have very diverse clinical symptoms ranging from cholestatic liver disease to neuropsychiatric symptoms and spastic paraplegias. This review describes the different bile acid synthesis p …
Disorders of bile acid synthesis can present from the neonatal period to adulthood and have very diverse clinical symptoms ranging from chol …
Hereditary ataxia and spastic paraplegia in Portugal: a population-based prevalence study.
Coutinho P, Ruano L, Loureiro JL, Cruz VT, Barros J, Tuna A, Barbot C, Guimarães J, Alonso I, Silveira I, Sequeiros J, Marques Neves J, Serrano P, Silva MC. Coutinho P, et al. JAMA Neurol. 2013 Jun;70(6):746-55. doi: 10.1001/jamaneurol.2013.1707. JAMA Neurol. 2013. PMID: 23609960
IMPORTANCE: Epidemiological data on hereditary cerebellar ataxia (HCA) and hereditary spastic paraplegia (HSP) are scarce. ...Machado-Joseph disease (spinocerebellar ataxia type 3) (prevalence, 3.1 per 100,000 population), Friedreich ataxia (prevalence …
IMPORTANCE: Epidemiological data on hereditary cerebellar ataxia (HCA) and hereditary spastic paraplegia (HSP) a …
Genetic, clinical and neuroimaging profiles of sporadic and autosomal recessive hereditary spastic paraplegia cases in Chinese.
Dong Y, Li XY, Wang XL, Xu F, Wang ZJ, Song Y, Li Q, Lin R, Wang C. Dong Y, et al. Neurosci Lett. 2021 Sep 14;761:136108. doi: 10.1016/j.neulet.2021.136108. Epub 2021 Jul 10. Neurosci Lett. 2021. PMID: 34256108
Spastic paraplegias (SPGs) are a group of clinically and genetically heterogeneous neurodegenerative diseases. Mutations in 78 genes have been identified in autosomal dominant hereditary SPG (AD-HSP) and autosomal recessive hereditary SPG (AR-HSP). ...
Spastic paraplegias (SPGs) are a group of clinically and genetically heterogeneous neurodegenerative diseases. Mutations in 78 genes …
Hereditary and idiopathic spastic paraparesis: preliminary findings of a single center experience.
Cui F, Sun L, Qiao J, Xiong J, Zhao Y, Li J, Li M, Chen S, Huang X. Cui F, et al. Neurol Res. 2018 Dec;40(12):1088-1093. doi: 10.1080/01616412.2018.1522412. Neurol Res. 2018. PMID: 30352018
OBJECTIVES: Hereditary spastic paraplegias (HSP) is a heterogeneous group of inherited neurologic disorders with diversified clinical manifestations. The purpose of this study was to summarize the clinical manifestations of HSP by analyzing the clinical data of 5 …
OBJECTIVES: Hereditary spastic paraplegias (HSP) is a heterogeneous group of inherited neurologic disorders with diversified c …
Inborn errors of metabolism in the biosynthesis and remodelling of phospholipids.
Wortmann SB, Espeel M, Almeida L, Reimer A, Bosboom D, Roels F, de Brouwer AP, Wevers RA. Wortmann SB, et al. J Inherit Metab Dis. 2015 Jan;38(1):99-110. doi: 10.1007/s10545-014-9759-7. Epub 2014 Sep 2. J Inherit Metab Dis. 2015. PMID: 25178427 Review.
Boucher-Neuhauser/Gordon Holmes syndrome (PNPLA6), PHARC syndrome (ABHD12), hereditary spastic paraplegia type 28, 54 and 56 (HSP28, DDHD1; HSP54, DDHD2; HSP56, CYP2U1), Lenz Majewski syndrome (PTDSS1), spondylometaphyseal dysplasia with cone-rod dystr …
Boucher-Neuhauser/Gordon Holmes syndrome (PNPLA6), PHARC syndrome (ABHD12), hereditary spastic paraplegia type 28, 54 a …
CYP2U1 activity is altered by missense mutations in hereditary spastic paraplegia 56.
Durand CM, Dhers L, Tesson C, Tessa A, Fouillen L, Jacqueré S, Raymond L, Coupry I, Benard G, Darios F, El-Hachimi KH, Astrea G, Rivier F, Banneau G, Pujol C, Lacombe D, Durr A, Babin PJ, Santorelli FM, Pietrancosta N, Boucher JL, Mansuy D, Stevanin G, Goizet C. Durand CM, et al. Hum Mutat. 2018 Jan;39(1):140-151. doi: 10.1002/humu.23359. Epub 2017 Nov 11. Hum Mutat. 2018. PMID: 29034544 Free article.
Hereditary spastic paraplegia (HSP) is an inherited disorder of the central nervous system mainly characterized by gradual spasticity and weakness of the lower limbs. ...
Hereditary spastic paraplegia (HSP) is an inherited disorder of the central nervous system mainly characterized by grad …
27 results