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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)
Rare Diseases
Last data update: May 09, 2024
. (Total: 63814 Documents since 2012)
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Cerebrotendinous Xanthomatosis: A practice review of pathophysiology, diagnosis, and treatment.
Nóbrega Paulo Ribeiro et al. Frontiers in neurology 2023 131049850
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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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The clinical utility of exome sequencing and extended bioinformatic analyses in adolescents and adults with a broad range of neurological phenotypes: an Australian perspective.
Eratne Dhamidhu et al. Journal of the neurological sciences 2020 Dec 420117260
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Health service experiences among adults with hereditary spastic paraparesis or neurofibromatosis type 1.
Fjermestad Krister W et al. Molecular genetics & genomic medicine 2020 Sep e1399
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Management of rare movement disorders in Europe: outcome of surveys of the European Reference Network for Rare Neurological Diseases.
Painous C et al. European journal of neurology 2020 May
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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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CLINGEN Actionability Report for Adrenoleukodystrophy - ABCD1
ClinGen Actionability Working Group
Hereditary and idiopathic spastic paraparesis: preliminary findings of a single center experience.
Cui Fang et al. Neurological research 2018 Dec 40(12) 1088-1093
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Genetic analysis of undiagnosed ataxia-telangiectasia-like disorders.
Kashimada Ayako et al. Brain & development 2018 Oct
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Nomenclature of genetic movement disorders: Recommendations of the international Parkinson and movement disorder society task force.
Marras Connie et al. Movement disorders : official journal of the Movement Disorder Society 2016 Apr 31(4) 436-57
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Page last reviewed:
Feb 1, 2024
Page last updated:
May 09, 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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