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Public Health Genomics and Precision Health Knowledge Base (v9.0)
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Precision Health Database|Search|Public Health Genomics and Precision Health Knowledge Base (PHGKB)
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Last data update: Apr 25, 2024
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Records 1 - 16 (of 16 Records)
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Paraplegia[original query]>>Original Studies[Product Type]
Expanding the spectrum of KIF5A mutations-case report of a large kindred with familial ALS and overlapping syndrome.
Dulski JarosLaw et al. Amyotrophic lateral sclerosis & frontotemporal degeneration 2023 1-4
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Development of a Prediction Model for Antibiotic-Resistant Urinary Tract Infections Using Integrated Electronic Health Records from Multiple Clinics in North-Central Florida.
Rich Shannan N et al. Infectious diseases and therapy 2022
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Whole genome sequencing for the diagnosis of neurological repeat expansion disorders in the UK: a retrospective diagnostic accuracy and prospective clinical validation study.
Ibañez Kristina et al. The Lancet. Neurology 2022 21(3) 234-245
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Clinical and genetic spectra of 1550 index patients with hereditary spastic paraplegia.
Méreaux Jean-Loup et al. Brain : a journal of neurology 2022
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Genetic etiology of a Chinese ataxia cohort: Expanding the mutational spectrum of hereditary ataxias.
Wan Na et al. Parkinsonism & related disorders 2021 89120-127
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Healthcare needs, expectations, utilization, and experienced treatment effects in patients with hereditary spastic paraplegia: a web-based survey in the Netherlands.
Kerstens Hans C J W et al. Orphanet journal of rare diseases 2021 16(1) 283
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Spinal cord stimulation improves motor function and gait in spastic paraplegia type 4 (SPG4): Clinical and neurophysiological evaluation.
Pinto de Souza Carolina et al. Parkinsonism & related disorders 2020 Dec 831-5
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Identification of UBAP1 mutations in juvenile hereditary spastic paraplegia in the 100,000 Genomes Project.
Bourinaris Thomas et al. European journal of human genetics : EJHG 2020 Sep
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Molecular Diagnosis of Hereditary Neuropathies by Whole Exome Sequencing and Expanding the Phenotype Spectrum.
Taghizadeh Sara et al. Archives of Iranian medicine 2020 Jul 23(7) 426-433
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Molecular analysis and clinical diversity of distal hereditary motor neuropathy.
Liu Xiaoxuan et al. European journal of neurology 2020 Apr
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Treatable cause of hereditary spastic paraplegia: eight cases of combined homocysteinaemia with methylmalonic aciduria.
Wei Yanping et al. Journal of neurology 2019 Oct 266(10) 2434-2439
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Novel Machine Learning Approach to Identify Preoperative Risk Factors Associated With Super-Utilization of Medicare Expenditure Following Surgery.
Hyer J Madison et al. JAMA surgery 2019 Aug
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Next-generation sequencing study reveals the broader variant spectrum of hereditary spastic paraplegia and related phenotypes.
Elert-Dobkowska Ewelina et al. Neurogenetics 2019 Feb
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Next Generation Molecular Diagnosis of Hereditary Spastic Paraplegias: An Italian Cross-Sectional Study.
D'Amore Angelica et al. Frontiers in neurology 2018 9981
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Targeted next-generation sequencing improves diagnosis of hereditary spastic paraplegia in Chinese patients.
Lu Cong et al. Journal of molecular medicine (Berlin, Germany) 2018 Jul 96(7) 701-712
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How are genetic test results being used by Australian life insurers?
Barlow-Stewart K et al. European journal of human genetics : EJHG 2018 Jun
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Page last reviewed:
Feb 1, 2024
Page last updated:
Apr 25, 2024
Content source:
Public Health Genomics Branch in the Division of Blood Disorders and Public Health Genomics
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National Center on Birth Defects and Developmental Disabilities
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