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Quoted phrase not found in phrase index: "Hereditary spastic paraplegia 55"
Page 1
Hereditary spastic paraplegia type 11: Clinicogenetic lessons from 339 patients.
Du J. Du J. J Clin Neurosci. 2021 Mar;85:67-71. doi: 10.1016/j.jocn.2020.11.036. Epub 2021 Jan 15. J Clin Neurosci. 2021. PMID: 33581793
Hereditary spastic paraplegia type 11 (SPG11) is the most common subtype of autosomal recessive hereditary spastic paraplegia (HSP), to date, there are more than 181 different KIAA1840 gene mutations detected, and yet the genetic landscap …
Hereditary spastic paraplegia type 11 (SPG11) is the most common subtype of autosomal recessive hereditary sp …
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. ...Reduced cognitive function was the most common manifestation (55.6%) of the complicated HSP patients. The …
OBJECTIVES: Hereditary spastic paraplegias (HSP) is a heterogeneous group of inherited neurologic disorders with diversified c …
Hereditary spastic paraplegia: mitochondrial metalloproteases of yeast.
Pearce DA. Pearce DA. Hum Genet. 1999 Jun;104(6):443-8. doi: 10.1007/s004390050985. Hum Genet. 1999. PMID: 10453730 Review.
Hereditary spastic paraplegia (HSP) is a genetically heterogenous group of inherited neurodegenerative disorders. ...Paraplegin is highly homologous to a class of well studied yeast ATP-dependent zinc metalloproteases, which show 55%, 55% and 52 …
Hereditary spastic paraplegia (HSP) is a genetically heterogenous group of inherited neurodegenerative disorders. ...Pa …
Hidden etiology of cerebral palsy: genetic and clinical heterogeneity and efficient diagnosis by next-generation sequencing.
Rosello M, Caro-Llopis A, Orellana C, Oltra S, Alemany-Albert M, Marco-Hernandez AV, Monfort S, Pedrola L, Martinez F, Tomás M. Rosello M, et al. Pediatr Res. 2021 Aug;90(2):284-288. doi: 10.1038/s41390-020-01250-3. Epub 2020 Nov 11. Pediatr Res. 2021. PMID: 33177673
However, the next-generation sequencing study showed a high diagnostic yield. We report 11/20 patients (55%) with different pathogenic or potentially pathogenic variants detected by exome sequencing analysis: five patients with mutations in genes related to hereditary …
However, the next-generation sequencing study showed a high diagnostic yield. We report 11/20 patients (55%) with different pathogeni …
Prevalence of hereditary ataxia and spastic paraplegia in southeast Norway: a population-based study.
Erichsen AK, Koht J, Stray-Pedersen A, Abdelnoor M, Tallaksen CM. Erichsen AK, et al. Brain. 2009 Jun;132(Pt 6):1577-88. doi: 10.1093/brain/awp056. Epub 2009 Mar 31. Brain. 2009. PMID: 19339254
Hereditary spastic paraplegia prevalence was 7.4/100 000: 5.5/100 000 for autosomal dominant-hereditary spastic paraplegia, 0.6/100 000 for autosomal recessive-hereditary spastic paraplegia and 1.3/100 000 for isolate …
Hereditary spastic paraplegia prevalence was 7.4/100 000: 5.5/100 000 for autosomal dominant-hereditary spast …
A novel homozygous mutation in ERLIN1 gene causing spastic paraplegia 62 and literature review.
Zhu ZY, Li ZY, Zhang C, Liu XL, Tian WT, Cao L. Zhu ZY, et al. Eur J Med Genet. 2022 Nov;65(11):104608. doi: 10.1016/j.ejmg.2022.104608. Epub 2022 Sep 12. Eur J Med Genet. 2022. PMID: 36100157 Review.
Hereditary spastic paraplegia (HSP) is a group of genetic neurodegenerative disorders, which is characterized by the presence of progressive spasticity and weakness in bilateral lower limbs. Spastic paraplegia 62 (SPG62) caused by the endoplasmi …
Hereditary spastic paraplegia (HSP) is a group of genetic neurodegenerative disorders, which is characterized by the pr …
Online monitoring of focal spasticity treatment with botulinum toxin in people with chronic stroke or hereditary spastic paraplegia: a feasibility study.
Kerstens HCJW, Nijkrake MJ, De Swart BJM, Nijhuis-van der Sanden RWG, Vos-van de Hulst M, Bos GJ, Geurts ACH, Van der Wees PJ. Kerstens HCJW, et al. J Rehabil Med. 2023 Apr 19;55:jrm00383. doi: 10.2340/jrm.v55.6572. J Rehabil Med. 2023. PMID: 37073790 Free PMC article.
OBJECTIVE: To investigate the feasibility and usability of an online spasticity monitoring tool amongst people with hereditary spastic paraplegia or chronic stroke receiving botulinum toxin treatment, and their healthcare providers. ...A deductive directed co …
OBJECTIVE: To investigate the feasibility and usability of an online spasticity monitoring tool amongst people with hereditary spa …
Development and validation of TreatHSP-QoL: a patient-reported outcome measure for health-related quality of life in hereditary spastic paraplegia.
Malina J, Huessler EM, Jöckel KH, Boog-Whiteside E, Jeschonneck N, Schröder B, Schüle R, Kühl T, Klebe S. Malina J, et al. Orphanet J Rare Dis. 2024 Jan 2;19(1):2. doi: 10.1186/s13023-023-03012-w. Orphanet J Rare Dis. 2024. PMID: 38167479 Free PMC article.
BACKGROUND: Hereditary spastic paraplegia (HSP) is a rare neurodegenerative disease that lacks specific and validated patient-centered outcome measures (PCOMs). ...Pearson correlations with the EuroQol-5 Dimension (5 levels) (EQ-5D-5L) and Friedreich Ataxia R …
BACKGROUND: Hereditary spastic paraplegia (HSP) is a rare neurodegenerative disease that lacks specific and validated p …
Motor impairment in a rare form of spastic paraplegia (Spoan syndrome): a 10-year follow-up.
Galvão CRC, Cavalcante PMA, Olinda R, Graciani Z, Zatz M, Kok F, Santos S, Lancman S. Galvão CRC, et al. BMC Neurol. 2019 Oct 27;19(1):256. doi: 10.1186/s12883-019-1465-5. BMC Neurol. 2019. PMID: 31656170 Free PMC article.
BACKGROUND: Spastic paraplegia, optic atrophy and neuropathy (Spoan syndrome) is an autosomal recessive disease with approximately 70 cases recorded in Brazil and Egypt. ...RESULTS: The mean age of the participants was 47.21 12.42 years old, and the mean age at loss …
BACKGROUND: Spastic paraplegia, optic atrophy and neuropathy (Spoan syndrome) is an autosomal recessive disease with approxima …
Effect of intrathecal baclofen on sleep and respiratory function in patients with spasticity.
Bensmail D, Quera Salva MA, Roche N, Benyahia S, Bohic M, Denys P, Bussel B, Lofaso F. Bensmail D, et al. Neurology. 2006 Oct 24;67(8):1432-6. doi: 10.1212/01.wnl.0000239827.38036.23. Neurology. 2006. PMID: 17060570
RESULTS: Most of the patients had multiple sclerosis (n = 9) or spinal cord injury (n = 8); there was one case each of cerebral palsy, hereditary spastic paraplegia, and Friedreich ataxia. Before and after ITB initiation, mean Ashworth scores were 2.75 …
RESULTS: Most of the patients had multiple sclerosis (n = 9) or spinal cord injury (n = 8); there was one case each of cerebral palsy, he …
12 results