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Quoted phrase not found in phrase index: "Hereditary spastic paraplegia 53"
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 …
Dysarthria in hereditary spastic paraplegia type 4.
Jacinto-Scudeiro LA, Rothe-Neves R, Dos Santos VB, Machado GD, Burguêz D, Padovani MMP, Ayres A, Rech RS, González-Salazar C, Junior MCF, Saute JAM, Olchik MR. Jacinto-Scudeiro LA, et al. Clinics (Sao Paulo). 2022 Dec 3;78:100128. doi: 10.1016/j.clinsp.2022.100128. eCollection 2023. Clinics (Sao Paulo). 2022. PMID: 36473366 Free PMC article.
OBJECTIVE: To describe the speech pattern of patients with hereditary Spastic Paraplegia type 4 (SPG4) and correlated it with their clinical data. ...The speech assessment of both groups included: speech task recording, acoustic analysis, and auditory-percept …
OBJECTIVE: To describe the speech pattern of patients with hereditary Spastic Paraplegia type 4 (SPG4) and correlated i …
Genetic mutation analysis of hereditary spastic paraplegia: A retrospective study.
Cui F, Sun L, Qiao J, Li J, Li M, Chen S, Sun B, Huang X. Cui F, et al. Medicine (Baltimore). 2020 Jun 5;99(23):e20193. doi: 10.1097/MD.0000000000020193. Medicine (Baltimore). 2020. PMID: 32501971 Free PMC article.
Hereditary spastic paraplegias are heterogeneous disorders with diversified clinical manifestations, and genetic testing is important for the diagnosis and typing of hereditary spastic paraplegias.Gene panel sequencing containing 55 hereditary …
Hereditary spastic paraplegias are heterogeneous disorders with diversified clinical manifestations, and genetic testing is im …
Clinical spectrum and genetic landscape for hereditary spastic paraplegias in China.
Dong EL, Wang C, Wu S, Lu YQ, Lin XH, Su HZ, Zhao M, He J, Ma LX, Wang N, Chen WJ, Lin X. Dong EL, et al. Mol Neurodegener. 2018 Jul 6;13(1):36. doi: 10.1186/s13024-018-0269-1. Mol Neurodegener. 2018. PMID: 29980238 Free PMC article.
BACKGROUND: Hereditary spastic paraplegias (HSP) is a heterogeneous group of rare neurodegenerative disorders affecting the corticospinal tracts. ...Eventually, we further validated the cellular changes in fibroblasts of two major spastic paraplegia (S …
BACKGROUND: Hereditary spastic paraplegias (HSP) is a heterogeneous group of rare neurodegenerative disorders affecting the co …
Magnetic resonance imaging in degenerative ataxic disorders.
Ormerod IE, Harding AE, Miller DH, Johnson G, MacManus D, du Boulay EP, Kendall BE, Moseley IF, McDonald WI. Ormerod IE, et al. J Neurol Neurosurg Psychiatry. 1994 Jan;57(1):51-7. doi: 10.1136/jnnp.57.1.51. J Neurol Neurosurg Psychiatry. 1994. PMID: 8301305 Free PMC article. Review.
MRI of the brain was performed in 53 patients with a variety of degenerative ataxias and related disorders and 96 control subjects. Atrophy of intracranial structures was not seen in patients with the pure type of hereditary spastic paraplegia, or in e …
MRI of the brain was performed in 53 patients with a variety of degenerative ataxias and related disorders and 96 control subjects. A …
Expanding the spectrum of C9ORF72-related neurodegenerative disorders in the Greek population.
Kartanou C, Kontogeorgiou Z, Rentzos M, Potagas C, Aristeidou S, Kapaki E, Paraskevas GP, Constantinides VC, Stefanis L, Papageorgiou SG, Houlden H, Panas M, Koutsis G, Karadima G. Kartanou C, et al. J Neurol Sci. 2022 Nov 15;442:120450. doi: 10.1016/j.jns.2022.120450. Epub 2022 Oct 5. J Neurol Sci. 2022. PMID: 36252286
In the present study we aimed to investigate the genotypic and phenotypic profile of C9ORF72-related disorders in Greece. For this reason, 957 patients (467 with ALS, 53 with HD-like syndromes, 247 with dementia, 175 with PD and 15 with hereditary spastic …
In the present study we aimed to investigate the genotypic and phenotypic profile of C9ORF72-related disorders in Greece. For this reason, 9 …
Sequential bilateral complete rupture of the rectus femoris muscle in a patient with hereditary spastic paraplegia.
Raes L, Draulans N, van Campenhout A, Ortibus E, Peers K, Kiekens C. Raes L, et al. Eur J Phys Rehabil Med. 2017 Oct;53(5):794-797. doi: 10.23736/S1973-9087.17.04513-0. Epub 2017 Mar 6. Eur J Phys Rehabil Med. 2017. PMID: 28264543 Free article. Review.
BACKGROUND: This case raises questions about the pathophysiology of muscle ruptures in highly functional patients with hereditary spastic paraplegia (HSP) who have only minor spasticity and no significant muscle shortening. ...CLINICAL REHABILITATION IMPACT: …
BACKGROUND: This case raises questions about the pathophysiology of muscle ruptures in highly functional patients with hereditary …
A high-throughput resequencing microarray for autosomal dominant spastic paraplegia genes.
Dufke C, Schlipf N, Schüle R, Bonin M, Auer-Grumbach M, Stevanin G, Depienne C, Kassubek J, Klebe S, Klimpe S, Klopstock T, Otto S, Poths S, Seibel A, Stolze H, Gal A, Schöls L, Bauer P. Dufke C, et al. Neurogenetics. 2012 Aug;13(3):215-27. doi: 10.1007/s10048-012-0329-6. Epub 2012 May 3. Neurogenetics. 2012. PMID: 22552817
Hereditary spastic paraplegias (HSP) are a heterogeneous group of neurological disorders. Insidiously progressive spastic weakness of the lower extremities is the common criterion in all forms described. ...
Hereditary spastic paraplegias (HSP) are a heterogeneous group of neurological disorders. Insidiously progressive spastic …
Mutational analysis of the CYP7B1, PNPLA6 and C19orf12 genes in autosomal recessive hereditary spastic paraplegia.
Schubert SF, Hoffjan S, Dekomien G. Schubert SF, et al. Mol Cell Probes. 2016 Feb;30(1):53-5. doi: 10.1016/j.mcp.2015.12.001. Epub 2015 Dec 20. Mol Cell Probes. 2016. PMID: 26714052
The hereditary spastic paraplegias (HSPs) comprise a group of genetically heterogeneous neurodegenerative diseases. ...
The hereditary spastic paraplegias (HSPs) comprise a group of genetically heterogeneous neurodegenerative diseases. ...
16 results