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Quoted phrase not found in phrase index: "Hereditary spastic paraplegia 62"
Page 1
Discrimination between hereditary spastic paraplegia and cerebral palsy based on gait analysis data: A machine learning approach.
MacWilliams BA, Carroll KL, Stotts AK, Kerr LM, Schwartz MH. MacWilliams BA, et al. Gait Posture. 2022 Oct;98:34-38. doi: 10.1016/j.gaitpost.2022.08.011. Epub 2022 Aug 17. Gait Posture. 2022. PMID: 36041285
BACKGROUND: There is no current consensus on how to differentiate between hereditary spastic paraplegia and spastic cerebral palsy on the basis of clinical presentation. ...METHODS: A retrospective analysis of a gait database compiled a dataset of 179 …
BACKGROUND: There is no current consensus on how to differentiate between hereditary spastic paraplegia and spastic …
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 …
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 …
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 end …
Hereditary spastic paraplegia (HSP) is a group of genetic neurodegenerative disorders, which is characterized by the pr …
Mutation analysis of CAPN1 in Chinese populations with spastic paraplegia and related neurodegenerative diseases.
Xia ZC, Liu ZH, Zhou XX, Liu Z, Wang JL, Hu ZM, Tan JQ, Shen L, Jiang H, Tang BS, Lei LF. Xia ZC, et al. J Neurol Sci. 2020 Apr 15;411:116691. doi: 10.1016/j.jns.2020.116691. Epub 2020 Jan 18. J Neurol Sci. 2020. PMID: 31982778
BACKGROUND: Mutations in CAPN1 have recently been reported to cause the spastic paraplegia 76 (SPG76) subtype of hereditary spastic paraplegia (HSP). ...D114Tfs*62). No CAPN1 pathogenic mutation was found in the EOPD or ALS groups. ...
BACKGROUND: Mutations in CAPN1 have recently been reported to cause the spastic paraplegia 76 (SPG76) subtype of hereditary …
Toe Walking: A Neurological Perspective After Referral From Pediatric Orthopaedic Surgeons.
Haynes KB, Wimberly RL, VanPelt JM, Jo CH, Riccio AI, Delgado MR. Haynes KB, et al. J Pediatr Orthop. 2018 Mar;38(3):152-156. doi: 10.1097/BPO.0000000000001115. J Pediatr Orthop. 2018. PMID: 29309384
Ankle contracture is not predictive of an abnormal diagnosis and can be found in idiopathic patients. CP, peripheral neuropathy, autism spectrum disorder, and hereditary spastic paraparesis are the most common pathologic diagnoses identified in our population …
Ankle contracture is not predictive of an abnormal diagnosis and can be found in idiopathic patients. CP, peripheral neuropathy, auti …
Hereditary spastic paraplegia with mental impairment and thin corpus callosum in Tunisia: SPG11, SPG15, and further genetic heterogeneity.
Boukhris A, Stevanin G, Feki I, Denis E, Elleuch N, Miladi MI, Truchetto J, Denora P, Belal S, Mhiri C, Brice A. Boukhris A, et al. Arch Neurol. 2008 Mar;65(3):393-402. doi: 10.1001/archneur.65.3.393. Arch Neurol. 2008. PMID: 18332254
OBJECTIVE: To perform a clinical and genetic study of Tunisian families with autosomal recessive (AR) hereditary spastic paraplegia with thin corpus callosum (HSP-TCC). DESIGN: Linkage studies and mutation screening. ...RESULTS: We identified 8 Tunisian famil …
OBJECTIVE: To perform a clinical and genetic study of Tunisian families with autosomal recessive (AR) hereditary spastic pa …
Autosomal dominant spastic paraplegia: refined SPG8 locus and additional genetic heterogeneity.
Reid E, Dearlove AM, Whiteford ML, Rhodes M, Rubinsztein DC. Reid E, et al. Neurology. 1999 Nov 10;53(8):1844-9. doi: 10.1212/wnl.53.8.1844. Neurology. 1999. PMID: 10563637
OBJECTIVE: To map the gene responsible for autosomal dominant pure hereditary spastic paraplegia (ADPHSP) in a large affected family. BACKGROUND: Autosomal dominant pure hereditary spastic paraplegia (ADPHSP) is genetically heterogeneous, …
OBJECTIVE: To map the gene responsible for autosomal dominant pure hereditary spastic paraplegia (ADPHSP) in a large af …
Novel locus for autosomal dominant hereditary spastic paraplegia, on chromosome 8q.
Hedera P, Rainier S, Alvarado D, Zhao X, Williamson J, Otterud B, Leppert M, Fink JK. Hedera P, et al. Am J Hum Genet. 1999 Feb;64(2):563-9. doi: 10.1086/302258. Am J Hum Genet. 1999. PMID: 9973294 Free PMC article.
Hereditary spastic paraplegia (HSP) is a clinically and genetically heterogeneous group of disorders characterized by insidiously progressive spastic weakness in the legs. ...We analyzed a Caucasian kindred with autosomal dominant HSP and identified ti …
Hereditary spastic paraplegia (HSP) is a clinically and genetically heterogeneous group of disorders characterized by i …
Mutation analysis of SPG4 and SPG3A genes and its implication in molecular diagnosis of Korean patients with hereditary spastic paraplegia.
Park SY, Ki CS, Kim HJ, Kim JW, Sung DH, Kim BJ, Lee WY. Park SY, et al. Arch Neurol. 2005 Jul;62(7):1118-21. doi: 10.1001/archneur.62.7.1118. Arch Neurol. 2005. PMID: 16009769
BACKGROUND: Hereditary spastic paraplegia (HSP), a genetically and clinically heterogeneous group of neurodegenerative disorders, is characterized by progressive lower limb weakness and spasticity. ...CONCLUSION: Compared with previous studies, a higher frequ …
BACKGROUND: Hereditary spastic paraplegia (HSP), a genetically and clinically heterogeneous group of neurodegenerative …
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