STEVEN SCHERER to Mutation
This is a "connection" page, showing publications STEVEN SCHERER has written about Mutation.
Connection Strength
1.905
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A recessive Trim2 mutation causes an axonal neuropathy in mice. Neurobiol Dis. 2020 07; 140:104845.
Score: 0.241
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A dominant connexin43 mutant does not have dominant effects on gap junction coupling in astrocytes. Neuron Glia Biol. 2010 Nov; 6(4):213-23.
Score: 0.129
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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: 0.118
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The effects of a dominant connexin32 mutant in myelinating Schwann cells. Mol Cell Neurosci. 2006 Jul; 32(3):283-98.
Score: 0.093
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Charcot-Marie-Tooth disease and related neuropathies. Nat Rev Dis Primers. 2026 Jan 22; 12(1):3.
Score: 0.090
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Genotype and phenotype spectrum of Charcot-Marie-Tooth disease due to mutations in SORD. Brain. 2025 Oct 03; 148(10):3737-3747.
Score: 0.088
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Prenylation-defective human connexin32 mutants are normally localized and function equivalently to wild-type connexin32 in myelinating Schwann cells. J Neurosci. 2005 Aug 03; 25(31):7111-20.
Score: 0.087
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Disease mechanisms in inherited neuropathies. Nat Rev Neurosci. 2003 Sep; 4(9):714-26.
Score: 0.076
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Axonal Charcot-Marie-Tooth Disease: from Common Pathogenic Mechanisms to Emerging Treatment Opportunities. Neurotherapeutics. 2021 10; 18(4):2269-2285.
Score: 0.067
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A recurrent MORC2 mutation causes Charcot-Marie-Tooth disease type 2Z. J Peripher Nerv Syst. 2021 06; 26(2):184-186.
Score: 0.065
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POLG mutations presenting as Charcot-Marie-Tooth disease. J Peripher Nerv Syst. 2019 06; 24(2):213-218.
Score: 0.056
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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: 0.055
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Myelinated axons fail to develop properly in a genetically authentic mouse model of Charcot-Marie-Tooth disease type 2E. Exp Neurol. 2018 10; 308:13-25.
Score: 0.053
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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: 0.052
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Rare Variants in MME, Encoding Metalloprotease Neprilysin, Are Linked to Late-Onset Autosomal-Dominant Axonal Polyneuropathies. Am J Hum Genet. 2016 09 01; 99(3):607-623.
Score: 0.047
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Target-enrichment sequencing and copy number evaluation in inherited polyneuropathy. Neurology. 2016 05 10; 86(19):1762-71.
Score: 0.046
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A novel AARS mutation in a family with dominant myeloneuropathy. Neurology. 2015 May 19; 84(20):2040-7.
Score: 0.043
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A new mutation in GJC2 associated with subclinical leukodystrophy. J Neurol. 2014 Oct; 261(10):1929-38.
Score: 0.041
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Treatable childhood neuronopathy caused by mutations in riboflavin transporter RFVT2. Brain. 2014 Jan; 137(Pt 1):44-56.
Score: 0.039
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Prediction of cochlear implant performance by genetic mutation: the spiral ganglion hypothesis. Hear Res. 2012 Oct; 292(1-2):51-8.
Score: 0.036
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Hereditary spastic paraplegia is a novel phenotype for GJA12/GJC2 mutations. Brain. 2009 Feb; 132(Pt 2):426-38.
Score: 0.027
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Somatic mutations affect key pathways in lung adenocarcinoma. Nature. 2008 Oct 23; 455(7216):1069-75.
Score: 0.027
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MYH11 mutations result in a distinct vascular pathology driven by insulin-like growth factor 1 and angiotensin II. Hum Mol Genet. 2007 Oct 15; 16(20):2453-62.
Score: 0.025
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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: 0.023
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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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The genomic and evolutionary landscapes of anaplastic thyroid carcinoma. Cell Rep. 2024 03 26; 43(3):113826.
Score: 0.020
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Genetic analysis and natural history of Charcot-Marie-Tooth disease CMTX1 due to GJB1 variants. Brain. 2023 10 03; 146(10):4336-4349.
Score: 0.019
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Neuropathy due to bi-allelic SH3TC2 variants: genotype-phenotype correlation and natural history. Brain. 2023 09 01; 146(9):3826-3835.
Score: 0.019
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Knock-in mouse models for CMTX1 show a loss of function phenotype in the peripheral nervous system. Exp Neurol. 2023 02; 360:114277.
Score: 0.018
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Disease Progression in Charcot-Marie-Tooth Disease Related to MPZ Mutations: A Longitudinal Study. Ann Neurol. 2023 03; 93(3):563-576.
Score: 0.018
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HINT1 neuropathy in Lithuania: clinical, genetic, and functional profiling. Orphanet J Rare Dis. 2022 10 14; 17(1):374.
Score: 0.018
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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: 0.018
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TUBB4A mutations result in both glial and neuronal degeneration in an H-ABC leukodystrophy mouse model. Elife. 2020 05 28; 9.
Score: 0.015
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Mutations in ABC1 in Tangier disease and familial high-density lipoprotein deficiency. Nat Genet. 1999 Aug; 22(4):336-45.
Score: 0.014
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Whole-Organ Genomic Characterization of Mucosal Field Effects Initiating Bladder Carcinogenesis. Cell Rep. 2019 02 19; 26(8):2241-2256.e4.
Score: 0.014
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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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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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CMT subtypes and disease burden in patients enrolled in the Inherited Neuropathies Consortium natural history study: a cross-sectional analysis. J Neurol Neurosurg Psychiatry. 2015 Aug; 86(8):873-8.
Score: 0.010
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Connexin mutations in X-linked Charcot-Marie-Tooth disease. Science. 1993 Dec 24; 262(5142):2039-42.
Score: 0.010
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Genetic alterations associated with progression from pancreatic intraepithelial neoplasia to invasive pancreatic tumor. Gastroenterology. 2013 Nov; 145(5):1098-1109.e1.
Score: 0.009
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Whole-exome sequencing combined with functional genomics reveals novel candidate driver cancer genes in endometrial cancer. Genome Res. 2012 Nov; 22(11):2120-9.
Score: 0.009
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High frequency of PIK3R1 and PIK3R2 mutations in endometrial cancer elucidates a novel mechanism for regulation of PTEN protein stability. Cancer Discov. 2011 Jul; 1(2):170-85.
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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Reversion of a promoter deletion in yeast. Nature. 1982 Aug 26; 298(5877):815-9.
Score: 0.004
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Notch1 control of oligodendrocyte differentiation in the spinal cord. J Cell Biol. 2002 Aug 19; 158(4):709-18.
Score: 0.004