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Novel heterozygous truncating titin variants affecting the A-band are associated with cardiomyopathy and myopathy/muscular dystrophy.
Rich KA, Moscarello T, Siskind C, Brock G, Tan CA, Vatta M, Winder TL, Elsheikh B, Vicini L, Tucker B, Palettas M, Hershberger RE, Kissel JT, Morales A, Roggenbuck J. Rich KA, et al. Among authors: roggenbuck j. Mol Genet Genomic Med. 2020 Oct;8(10):e1460. doi: 10.1002/mgg3.1460. Epub 2020 Aug 20. Mol Genet Genomic Med. 2020. PMID: 32815318 Free PMC article.
Evidence-based consensus guidelines for ALS genetic testing and counseling.
Roggenbuck J, Eubank BHF, Wright J, Harms MB, Kolb SJ; ALS Genetic Testing and Counseling Guidelines Expert Panel. Roggenbuck J, et al. Ann Clin Transl Neurol. 2023 Nov;10(11):2074-2091. doi: 10.1002/acn3.51895. Epub 2023 Sep 10. Ann Clin Transl Neurol. 2023. PMID: 37691292 Free PMC article.
Response to "assessment of risk of ALS conferred by the GGGGCC hexanucleotide expansion in C9orf72 among first-degree relatives of patients with ALS carrying the repeat expansion".
Dratch L, Kinnamon DD, Harrington EA, Goldman J, Fong JC, Jones T, Uhlmann WR, Roggenbuck J. Dratch L, et al. Among authors: roggenbuck j. Amyotroph Lateral Scler Frontotemporal Degener. 2024 Jun 20:1-3. doi: 10.1080/21678421.2024.2362854. Online ahead of print. Amyotroph Lateral Scler Frontotemporal Degener. 2024. PMID: 38902980 No abstract available.
Pathomechanisms of Monoallelic variants in TTN causing skeletal muscle disease.
Gohlke J, Lindqvist J, Hourani Z, Heintzman S, Tonino P, Elsheikh B, Morales A, Vatta M, Burghes A, Granzier H, Roggenbuck J. Gohlke J, et al. Among authors: roggenbuck j. Hum Mol Genet. 2024 Sep 15:ddae136. doi: 10.1093/hmg/ddae136. Online ahead of print. Hum Mol Genet. 2024. PMID: 39277846
Clinical testing panels for ALS: global distribution, consistency, and challenges.
Dilliott AA, Al Nasser A, Elnagheeb M, Fifita J, Henden L, Keseler IM, Lenz S, Marriott H, Mccann E, Mesaros M, Opie-Martin S, Owens E, Palus B, Ross J, Wang Z, White H, Al-Chalabi A, Andersen PM, Benatar M, Blair I, Cooper-Knock J, Harrington EA, Heckmann J, Landers J, Moreno C, Nel M, Rampersaud E, Roggenbuck J, Rouleau G, Traynor B, Van Blitterswijk M, Van Rheenen W, Veldink J, Weishaupt J, Drury L, Harms MB, Farhan SMK; Amyotrophic lateral sclerosis spectrum disorders Gene Curation Expert Panel. Dilliott AA, et al. Among authors: roggenbuck j. Amyotroph Lateral Scler Frontotemporal Degener. 2023 Aug;24(5-6):420-435. doi: 10.1080/21678421.2023.2173015. Epub 2023 Mar 10. Amyotroph Lateral Scler Frontotemporal Degener. 2023. PMID: 36896705 Free PMC article. Review.
52 results