STEVEN SCHERER to Young Adult
This is a "connection" page, showing publications STEVEN SCHERER has written about Young Adult.
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Yield of next-generation neuropathy gene panels in axonal neuropathies. J Peripher Nerv Syst. 2019 12; 24(4):324-329.
Score: 0.059
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A novel recessive Nefl mutation causes a severe, early-onset axonal neuropathy. Ann Neurol. 2009 Dec; 66(6):759-70.
Score: 0.030
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Comparing the clinical utility of pharmacogenomic genotyping and next generation sequencing in a military health system adult medicine clinic. Pharmacogenomics. 2024; 25(16-18):637-645.
Score: 0.021
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Disease Progression in Charcot-Marie-Tooth Disease Type 4B (CMT4B) Associated With Mutations in Myotubularin-Related Proteins 2 and 13. Eur J Neurol. 2025 Feb; 32(2):e70084.
Score: 0.021
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TRPV4 neuromuscular disease registry highlights bulbar, skeletal and proximal limb manifestations. Brain. 2025 Jan 07; 148(1):238-251.
Score: 0.021
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A recurrent missense variant in ITPR3 causes demyelinating Charcot-Marie-Tooth with variable severity. Brain. 2025 Jan 07; 148(1):227-237.
Score: 0.021
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Patient-reported disease burden in the Accelerate Clinical Trials in Charcot-Marie-Tooth Disease Study. J Peripher Nerv Syst. 2024 Dec; 29(4):487-493.
Score: 0.021
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A study concept of expeditious clinical enrollment for genetic modifier studies in Charcot-Marie-Tooth neuropathy 1A. J Peripher Nerv Syst. 2024 06; 29(2):202-212.
Score: 0.020
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Vision Loss as a Presenting Feature of Chronic Inflammatory Demyelinating Polyneuropathy: A Case Series. J Neuroophthalmol. 2023 03 01; 43(1):48-54.
Score: 0.018
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Natural history of Charcot-Marie-Tooth disease type 2A: a large international multicentre study. Brain. 2020 12 01; 143(12):3589-3602.
Score: 0.016
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Reliability of the Charcot-Marie-Tooth functional outcome measure. J Peripher Nerv Syst. 2020 09; 25(3):288-291.
Score: 0.016
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Pharmacogenomics of Nicotine Metabolism: Novel CYP2A6 and CYP2B6 Genetic Variation Patterns in Alaska Native and American Indian Populations. Nicotine Tob Res. 2020 May 26; 22(6):910-918.
Score: 0.015
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A longitudinal study of CMT1A using Rasch analysis based CMT neuropathy and examination scores. Neurology. 2020 03 03; 94(9):e884-e896.
Score: 0.015
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Variation in SIPA1L2 is correlated with phenotype modification in Charcot- Marie- Tooth disease type 1A. Ann Neurol. 2019 03; 85(3):316-330.
Score: 0.014
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A novel MFN2 mutation causes variable clinical severity in a multi-generational CMT2 family. Neuromuscul Disord. 2019 02; 29(2):134-137.
Score: 0.014
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Genetic Variants Influencing Plasma Renin Activity in Hypertensive Patients From the PEAR Study (Pharmacogenomic Evaluation of Antihypertensive Responses). Circ Genom Precis Med. 2018 04; 11(4):e001854.
Score: 0.013
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Mutations in ATP1A1 Cause Dominant Charcot-Marie-Tooth Type 2. Am J Hum Genet. 2018 03 01; 102(3):505-514.
Score: 0.013
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Cross-sectional analysis of a large cohort with X-linked Charcot-Marie-Tooth disease (CMTX1). Neurology. 2017 Aug 29; 89(9):927-935.
Score: 0.013
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Prevalence and orthopedic management of foot and ankle deformities in Charcot-Marie-Tooth disease. Muscle Nerve. 2018 02; 57(2):255-259.
Score: 0.013
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Postmortem genetic screening for the identification, verification, and reporting of genetic variants contributing to the sudden death of the young. Genome Res. 2016 09; 26(9):1170-7.
Score: 0.012
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Target-enrichment sequencing and copy number evaluation in inherited polyneuropathy. Neurology. 2016 05 10; 86(19):1762-71.
Score: 0.011
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De novo PMP2 mutations in families with type 1 Charcot-Marie-Tooth disease. Brain. 2016 06; 139(Pt 6):1649-56.
Score: 0.011
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Genotype-phenotype characteristics and baseline natural history of heritable neuropathies caused by mutations in the MPZ gene. Brain. 2015 Nov; 138(Pt 11):3180-92.
Score: 0.011
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A novel AARS mutation in a family with dominant myeloneuropathy. Neurology. 2015 May 19; 84(20):2040-7.
Score: 0.011
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Treatable childhood neuronopathy caused by mutations in riboflavin transporter RFVT2. Brain. 2014 Jan; 137(Pt 1):44-56.
Score: 0.010
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No impact of KIR-ligand mismatch on allograft outcome in HLA-compatible kidney transplantation. Am J Transplant. 2013 Apr; 13(4):1063-1068.
Score: 0.009
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Missense mutations in the copper transporter gene ATP7A cause X-linked distal hereditary motor neuropathy. Am J Hum Genet. 2010 Mar 12; 86(3):343-52.
Score: 0.008
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Mutations in smooth muscle alpha-actin (ACTA2) cause coronary artery disease, stroke, and Moyamoya disease, along with thoracic aortic disease. Am J Hum Genet. 2009 May; 84(5):617-27.
Score: 0.007
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Reassessing the impact of donor HLA-C genotype on long-term liver transplant survival. Am J Transplant. 2009 Jul; 9(7):1674-8.
Score: 0.007