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Neurology|November 12, 2025
Urine Sorbitol and Xylitol for the Diagnosis of Sorbitol Dehydrogenase Deficiency-Related NeuropathyJordan Elliott Bontrager, Amy L White, Karlla W Brigatti, et al.Annals of Neurology|February 2, 2019
Variation in SIPA1L2 is correlated with phenotype modification in Charcot- Marie- Tooth disease type 1AFeifei Tao, Gary W Beecham, Adriana P Rebelo, et al.Journal of Neuromuscular Diseases|April 9, 2019
Modifier Gene Candidates in Charcot-Marie-Tooth Disease Type 1A: A Case-Only Genome-Wide Association StudyFeifei Tao, Gary W Beecham, Adriana P Rebelo, et al.Brain : a Journal of Neurology|June 7, 2023
Genetic analysis and natural history of Charcot-Marie-Tooth disease CMTX1 due to GJB1 variantsChristopher J Record, Mariola Skorupinska, Matilde Laura, et al.Neurology|February 13, 2020
A longitudinal study of CMT1A using Rasch analysis based CMT neuropathy and examination scoresVera Fridman, Stefan Sillau, Gyula Acsadi, et al.Brain : a Journal of Neurology|January 8, 2021
Natural history of Charcot-Marie-Tooth disease type 2A: a large international multicentre studyMenelaos Pipis, Shawna M E Feely, James M Polke, et al.Physical Review Letters|March 5, 2004
Azimuthal dependence of collective expansion for symmetric heavy-ion collisionsG Stoicea, M Petrovici, A Andronic, et al.Annals of Neurology|May 10, 2019
A multicenter retrospective study of charcot-marie-tooth disease type 4B (CMT4B) associated with mutations in myotubularin-related proteins (MTMRs)Davide Pareyson, Tanya Stojkovic, Mary M Reilly, et al.Experimental Neurology|October 2, 2024
The GENESIS database and tools: A decade of discovery in Mendelian genomicsMatt C Danzi, Eric Powell, Adriana P Rebelo, et al.Physical Review Letters|July 13, 2004
Nuclear stopping from 0.09A to 1.93A GeV and its correlation to flowW Reisdorf, A Andronic, A Gobbi, et al.Pageof 33