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Medrxiv : the Preprint Server for Health Sciences|July 2, 2026
A class of deep intronic IGHMBP2 variants activate a shared cryptic splice donor, enabling correction of select variants with a single antisense oligonucleotideSarah Silverstein, Andrew D Nguyen, Rotem Orbach, et al.Nature Genetics|May 28, 2020
Author Correction: Biallelic mutations in SORD cause a common and potentially treatable hereditary neuropathy with implications for diabetesAndrea Cortese, Yi Zhu, Adriana P Rebelo, et al.Neurology|November 4, 2020
The genetic landscape of axonal neuropathies in the middle-aged and elderly: Focus on MMEJan Senderek, Petra Lassuthova, Dagmara Kabzińska, et al.Nature Genetics|May 6, 2020
Biallelic mutations in SORD cause a common and potentially treatable hereditary neuropathy with implications for diabetesAndrea Cortese, Yi Zhu, Adriana P Rebelo, et al.Annals of Neurology|June 9, 2026
Monoallelic POLR3A Variants Cause Early-Onset Peripheral NeuropathyLuiza L P Ramos, Jevin M Parmar, Robin Wijngaard, et al.Physical Review Letters|June 13, 2009
Measurement of the in-medium K0 inclusive cross section in pi(-) -induced reactions at 1.15 GeV/cM L Benabderrahmane, N Herrmann, K Wiśniewski, et al.Brain : a Journal of Neurology|February 12, 2025
Genotype and phenotype spectrum of Charcot-Marie-Tooth disease due to mutations in SORDAndrea Cortese, Maike F Dohrn, Riccardo Curro, et al.Physical Review Letters|November 8, 2019
Observation of Excess J/ψ Yield at Very Low Transverse Momenta in Au+Au Collisions at sqrt[s_{NN}]=200 GeV and U+U Collisions at sqrt[s_{NN}]=193 GeVJ Adam, L Adamczyk, J R Adams, et al.Physical Review Letters|November 9, 2019
First Observation of the Directed Flow of D^{0} and D^{0}[over ¯] in Au+Au Collisions at sqrt[s_{NN}]=200 GeVJ Adam, L Adamczyk, J R Adams, et al.Physical Review Letters|September 10, 2021
Observation of D_{s}^{±}/D^{0} Enhancement in Au+Au Collisions at sqrt[s_{NN}]=200 GeVJ Adam, L Adamczyk, J R Adams, et al.Pageof 33