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Quoted phrase not found in phrase index: "Hereditary spastic paraplegia 51"
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 …
Epidemiology of ataxia and hereditary spastic paraplegia in Spain: A cross-sectional study.
Ortega Suero G, Abenza Abildúa MJ, Serrano Munuera C, Rouco Axpe I, Arpa Gutiérrez FJ, Adarmes Gómez AD, Rodríguez de Rivera FJ, Quintans Castro B, Posada Rodríguez I, Vadillo Bermejo A, Domingo Santos Á, Blanco Vicente E, Infante Ceberio I, Pardo Fernández J, Costa Arpín E, Painous Martí C, Muñoz García JE, Mir Rivera P, Montón Álvarez F, Bataller Alberola L, Gascón Bayarri J, Casasnovas Pons C, Vélez Santamaría V, López de Munain A, Fernández-Eulate G, Gazulla Abío J, Sanz Gallego I, Rojas Bartolomé L, Ayo Martín Ó, Segura Martín T, González Mingot C, Baraldés Rovira M, Sivera Mascaró R, Cubo Delgado E, Echavarría Íñiguez A, Vázquez Sánchez F, Bártulos Iglesias M, Casadevall Codina MT, Martínez Fernández EM, Labandeira Guerra C, Alemany Perna B, Carvajal Hernández A, Fernández Moreno C, Palacín Larroy M, Caballol Pons N, Ávila Rivera A, Navacerrada Barrero FJ, Lobato Rodríguez R, Sobrido Gómez MJ. Ortega Suero G, et al. Neurologia (Engl Ed). 2023 Jul-Aug;38(6):379-386. doi: 10.1016/j.nrleng.2023.04.003. Epub 2023 Apr 28. Neurologia (Engl Ed). 2023. PMID: 37120112 Free article.
INTRODUCTION: Ataxia and hereditary spastic paraplegia are rare neurodegenerative syndromes. ...A total of 1371 patients (70.9%) had ataxia and 562 (29.1%) had hereditary spastic paraplegia. Prevalence rates for ataxia and hereditary …
INTRODUCTION: Ataxia and hereditary spastic paraplegia are rare neurodegenerative syndromes. ...A total of 1371 patient …
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 …
Spastic paraplegia 51: phenotypic spectrum related to novel homozygous AP4E1 mutation.
Manoochehri J, Goodarzi HR, Tabei SMB. Manoochehri J, et al. J Genet. 2022;101:40. J Genet. 2022. PMID: 36226339 Free article.
AP-4-associated hereditary spastic paraplegia (HSP), also known as AP-4 deficiency syndrome, is a genetically diverse group of neurologic disorders defined by complex spastic paraplegia. Different forms of AP-4-associated HSP are classified by c …
AP-4-associated hereditary spastic paraplegia (HSP), also known as AP-4 deficiency syndrome, is a genetically diverse g …
Genetic and phenotypic characterization of complex hereditary spastic paraplegia.
Kara E, Tucci A, Manzoni C, Lynch DS, Elpidorou M, Bettencourt C, Chelban V, Manole A, Hamed SA, Haridy NA, Federoff M, Preza E, Hughes D, Pittman A, Jaunmuktane Z, Brandner S, Xiromerisiou G, Wiethoff S, Schottlaender L, Proukakis C, Morris H, Warner T, Bhatia KP, Korlipara LV, Singleton AB, Hardy J, Wood NW, Lewis PA, Houlden H. Kara E, et al. Brain. 2016 Jul;139(Pt 7):1904-18. doi: 10.1093/brain/aww111. Epub 2016 May 23. Brain. 2016. PMID: 27217339 Free PMC article.
The hereditary spastic paraplegias are a heterogeneous group of degenerative disorders that are clinically classified as either pure with predominant lower limb spasticity, or complex where spastic paraplegia is complicated with additional neurological …
The hereditary spastic paraplegias are a heterogeneous group of degenerative disorders that are clinically classified as eithe …
Gastrointestinal and urinary complaints in adults with hereditary spastic paraparesis.
Kanavin ØJ, Fjermestad KW. Kanavin ØJ, et al. Orphanet J Rare Dis. 2018 Apr 16;13(1):58. doi: 10.1186/s13023-018-0804-8. Orphanet J Rare Dis. 2018. PMID: 29661209 Free PMC article.
BACKGROUND: Hereditary spastic paraparesis (HSP) is a group of rare genetic disorders affecting the central nervous system. ...Urinary complaints included frequent urination (27.4% > 8 times daily), sudden urge (51.9%) and urinary incontinence (30.5% at le …
BACKGROUND: Hereditary spastic paraparesis (HSP) is a group of rare genetic disorders affecting the central nervous system. .. …
Investigating ZFYVE26 mutations in a Taiwanese cohort with hereditary spastic paraplegia.
Hsu SL, Lu YJ, Tsai YS, Chao HC, Fuh JL, Liao YC, Lee YC. Hsu SL, et al. J Formos Med Assoc. 2022 Jan;121(1 Pt 1):126-133. doi: 10.1016/j.jfma.2021.02.005. Epub 2021 Feb 24. J Formos Med Assoc. 2022. PMID: 33637369 Free article.
BACKGROUND/PURPOSE: Hereditary spastic paraplegia (HSP) is a heterogeneous group of inherited neurodegenerative disorders characterized by slowly progressive lower limbs spasticity and weakness. ...The patient had a novel recessive ZFYVE26 frameshift truncati …
BACKGROUND/PURPOSE: Hereditary spastic paraplegia (HSP) is a heterogeneous group of inherited neurodegenerative disorde …
Bladder dysfunction in hereditary spastic paraplegia: a clinical and urodynamic evaluation.
Fourtassi M, Jacquin-Courtois S, Scheiber-Nogueira MC, Hajjioui A, Luaute J, Charvier K, Maucort-Boulch D, Rode G. Fourtassi M, et al. Spinal Cord. 2012 Jul;50(7):558-62. doi: 10.1038/sc.2011.193. Epub 2012 Jan 31. Spinal Cord. 2012. PMID: 22289900
OBJECTIVES: Hereditary spastic paraplegia (HSP) is a degenerative central nervous system disorder characterized by progressive spasticity and hyperreflexia of the lower limbs. ...These results may guide practitioners in their decision-making about the appropr …
OBJECTIVES: Hereditary spastic paraplegia (HSP) is a degenerative central nervous system disorder characterized by prog …
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 mean disease duration was 13.46 12.82 years (range: 1-63). There were 29 pure (51.8%) forms and 27 com …
OBJECTIVES: Hereditary spastic paraplegias (HSP) is a heterogeneous group of inherited neurologic disorders with diversified c …
28 results