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151 results

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Page 1
UDP-glucose dehydrogenase variants cause dystroglycanopathy.
Reelfs AM, Stephan CM, Czech TM, Cox MO, Joseph S, Darbro BW, Moore SA, Campbell KP, Mathews KD. Reelfs AM, et al. Among authors: mathews kd. Ann Clin Transl Neurol. 2025 Jun;12(6):1302-1308. doi: 10.1002/acn3.70002. Epub 2025 Apr 17. Ann Clin Transl Neurol. 2025. PMID: 40245099 Free PMC article.
Propensity matched comparison of omaveloxolone treatment to Friedreich ataxia natural history data.
Lynch DR, Goldsberry A, Rummey C, Farmer J, Boesch S, Delatycki MB, Giunti P, Hoyle JC, Mariotti C, Mathews KD, Nachbauer W, Perlman S, Subramony SH, Wilmot G, Zesiewicz T, Weissfeld L, Meyer C. Lynch DR, et al. Among authors: mathews kd. Ann Clin Transl Neurol. 2024 Jan;11(1):4-16. doi: 10.1002/acn3.51897. Epub 2023 Sep 10. Ann Clin Transl Neurol. 2024. PMID: 37691319 Free PMC article.
Double blind trial of a deuterated form of linoleic acid (RT001) in Friedreich ataxia.
Lynch DR, Mathews KD, Perlman S, Zesiewicz T, Subramony S, Omidvar O, Vogel AP, Krtolica A, Litterman N, van der Ploeg L, Heerinckx F, Milner P, Midei M. Lynch DR, et al. Among authors: mathews kd. J Neurol. 2023 Mar;270(3):1615-1623. doi: 10.1007/s00415-022-11501-4. Epub 2022 Dec 3. J Neurol. 2023. PMID: 36462055 Clinical Trial.
The ZFHX3 GGC Repeat Expansion Underlying Spinocerebellar Ataxia Type 4 has a Common Ancestral Founder.
Chen Z, Alvarez Jerez P, Anderson C, Paucar M, Lee J, Nilsson D, Macpherson H, Scardamaglia A, Montgomery K, Hardy J, Singleton AB, Tucci A, Mathews KD, Fu YH, Engvall M, Laffita-Mesa J, Nennesmo I, Wedell A, Ptáček LJ, Blauwendraat C, Gustavsson EK, Svenningsson P, Ryten M, Houlden H. Chen Z, et al. Among authors: mathews kd. Mov Disord. 2025 Feb;40(2):363-369. doi: 10.1002/mds.30077. Epub 2024 Dec 5. Mov Disord. 2025. PMID: 39635987 Free PMC article.
Pain Experiences and Prescription Pain Medications Among People With Selected Muscular Dystrophies in the Muscular Dystrophy Surveillance, Tracking, and Research Network.
Suhl J, Conway KM, Thomas S, Rasmussen SA, Howard JF, Johnson NE, Romitti PA, Mathews KD; Muscular Dystrophy Surveillance, Tracking and Research Network (MD STARnet). Suhl J, et al. Among authors: mathews kd. Muscle Nerve. 2025 Jun 23. doi: 10.1002/mus.28460. Online ahead of print. Muscle Nerve. 2025. PMID: 40546227
Clinical Trial Readiness in Limb Girdle Muscular Dystrophy R1 (LGMDR1): A GRASP Consortium Study.
Hunn SM, Alfano LN, Jones A, Butler A, Lowes LP, Iammarino MA, Reash NF, Pietruszewski L, Sasidharan S, Currence M, Statland JM, Strahler T, Will R, Wicklund M, Dixon S, Augsburger R, Mozaffar T, Laubscher KM, Mockler SRH, Mathews KD, Stinson N, Leung DG, Stark MM, Horton RA, Kang PB, James MK, Clause A, Weihl CC, Johnson NE; GRASP‐LGMD Consortium. Hunn SM, et al. Among authors: mathews kd. Ann Clin Transl Neurol. 2025 Jun;12(6):1179-1186. doi: 10.1002/acn3.70049. Epub 2025 Apr 16. Ann Clin Transl Neurol. 2025. PMID: 40237364 Free PMC article.
Prophylactic Use of Cardiac Medications and Survival in Duchenne Muscular Dystrophy.
Conway KM, Thomas S, Neyaz T, Ciafaloni E, Mann JR, Staron-Ehlinger M, Beasley GS, Romitti PA, Mathews KD; Muscular Dystrophy Surveillance, Tracking and Research Network (MD STARnet). Conway KM, et al. Among authors: mathews kd. Muscle Nerve. 2025 Apr;71(4):574-582. doi: 10.1002/mus.28353. Epub 2025 Jan 24. Muscle Nerve. 2025. PMID: 39853770 Free PMC article.
151 results