STEVEN SCHERER to Charcot-Marie-Tooth Disease
This is a "connection" page, showing publications STEVEN SCHERER has written about Charcot-Marie-Tooth Disease.
Connection Strength
8.383
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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: 0.628
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Optic Neuropathy in Charcot-Marie-Tooth Disease. J Neuroophthalmol. 2021 06 01; 41(2):233-238.
Score: 0.613
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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: 0.608
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A recessive Trim2 mutation causes an axonal neuropathy in mice. Neurobiol Dis. 2020 07; 140:104845.
Score: 0.564
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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: 0.551
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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: 0.500
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Transgenic expression of human connexin32 in myelinating Schwann cells prevents demyelination in connexin32-null mice. J Neurosci. 2005 Feb 09; 25(6):1550-9.
Score: 0.198
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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: 0.198
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TRPV4 neuromuscular disease registry highlights bulbar, skeletal and proximal limb manifestations. Brain. 2025 Jan 07; 148(1):238-251.
Score: 0.197
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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: 0.197
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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: 0.193
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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: 0.187
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Multicenter Validation of the Charcot-Marie-Tooth Functional Outcome Measure. Neurology. 2024 02 13; 102(3):e207963.
Score: 0.184
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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: 0.180
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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: 0.170
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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: 0.169
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HINT1 neuropathy in Lithuania: clinical, genetic, and functional profiling. Orphanet J Rare Dis. 2022 10 14; 17(1):374.
Score: 0.168
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Disruption of Endosomal Sorting in Schwann Cells Leads to Defective Myelination and Endosomal Abnormalities Observed in Charcot-Marie-Tooth Disease. J Neurosci. 2022 06 22; 42(25):5085-5101.
Score: 0.164
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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: 0.148
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Reliability of the Charcot-Marie-Tooth functional outcome measure. J Peripher Nerv Syst. 2020 09; 25(3):288-291.
Score: 0.145
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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: 0.140
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POLG mutations presenting as Charcot-Marie-Tooth disease. J Peripher Nerv Syst. 2019 06; 24(2):213-218.
Score: 0.132
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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: 0.131
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Modifier Gene Candidates in Charcot-Marie-Tooth Disease Type 1A: A Case-Only Genome-Wide Association Study. J Neuromuscul Dis. 2019; 6(2):201-211.
Score: 0.130
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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: 0.129
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Variant pathogenicity evaluation in the community-driven Inherited Neuropathy Variant Browser. Hum Mutat. 2018 05; 39(5):635-642.
Score: 0.123
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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: 0.122
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A mutation in the heptad repeat 2 domain of MFN2 in a large CMT2A family. J Peripher Nerv Syst. 2018 03; 23(1):36-39.
Score: 0.122
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PMP22 antisense oligonucleotides reverse Charcot-Marie-Tooth disease type 1A features in rodent models. J Clin Invest. 2018 01 02; 128(1):359-368.
Score: 0.120
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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: 0.118
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Carpal tunnel syndrome in inherited neuropathies: A retrospective survey. Muscle Nerve. 2018 03; 57(3):388-394.
Score: 0.117
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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: 0.117
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Loss of Coupling Distinguishes GJB1 Mutations Associated with CNS Manifestations of CMT1X from Those Without CNS Manifestations. Sci Rep. 2017 01 10; 7:40166.
Score: 0.113
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Intrathecal gene therapy rescues a model of demyelinating peripheral neuropathy. Proc Natl Acad Sci U S A. 2016 Apr 26; 113(17):E2421-9.
Score: 0.107
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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: 0.107
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Clinical, neurophysiological and morphological study of dominant intermediate Charcot-Marie-Tooth type C neuropathy. J Neurol. 2016 Mar; 263(3):467-76.
Score: 0.105
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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: 0.103
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A novel AARS mutation in a family with dominant myeloneuropathy. Neurology. 2015 May 19; 84(20):2040-7.
Score: 0.100
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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: 0.098
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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: 0.053
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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: 0.045
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Proliferation of Schwann cells and regulation of cyclin D1 expression in an animal model of Charcot-Marie-Tooth disease type 1A. J Neurosci Res. 2002 Feb 15; 67(4):443-9.
Score: 0.040
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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: 0.028
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Connexin mutations in X-linked Charcot-Marie-Tooth disease. Science. 1993 Dec 24; 262(5142):2039-42.
Score: 0.023