STEVEN SCHERER to Child
This is a "connection" page, showing publications STEVEN SCHERER has written about Child.
Connection Strength
0.181
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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: 0.020
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TRPV4 neuromuscular disease registry highlights bulbar, skeletal and proximal limb manifestations. Brain. 2025 Jan 07; 148(1):238-251.
Score: 0.014
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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: 0.014
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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 Jun; 29(2):202-212.
Score: 0.014
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Variants in genes coding for collagen type IV a-chains are frequent causes of persistent, isolated hematuria during childhood. Pediatr Nephrol. 2023 03; 38(3):687-695.
Score: 0.012
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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: 0.011
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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: 0.010
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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: 0.010
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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: 0.009
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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: 0.009
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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: 0.009
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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: 0.008
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The ethics of conducting molecular autopsies in cases of sudden death in the young. Genome Res. 2016 09; 26(9):1165-9.
Score: 0.008
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Target-enrichment sequencing and copy number evaluation in inherited polyneuropathy. Neurology. 2016 05 10; 86(19):1762-71.
Score: 0.008
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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: 0.007
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Treatable childhood neuronopathy caused by mutations in riboflavin transporter RFVT2. Brain. 2014 Jan; 137(Pt 1):44-56.
Score: 0.007
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Compound and digenic heterozygosity contributes to arrhythmogenic right ventricular cardiomyopathy. J Am Coll Cardiol. 2010 Feb 09; 55(6):587-97.
Score: 0.005
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T118M PMP22 mutation causes partial loss of function and HNPP-like neuropathy. Ann Neurol. 2006 Feb; 59(2):358-64.
Score: 0.004
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Mapping a locus for familial thoracic aortic aneurysms and dissections (TAAD2) to 3p24-25. Circulation. 2003 Jul 01; 107(25):3184-90.
Score: 0.003