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Page 1
Phenotypic expansion of CACNA1C-associated disorders to include isolated neurological manifestations.
Rodan LH, Spillmann RC, Kurata HT, Lamothe SM, Maghera J, Jamra RA, Alkelai A, Antonarakis SE, Atallah I, Bar-Yosef O, Bilan F, Bjorgo K, Blanc X, Van Bogaert P, Bolkier Y, Burrage LC, Christ BU, Granadillo JL, Dickson P, Donald KA, Dubourg C, Eliyahu A, Emrick L, Engleman K, Gonfiantini MV, Good JM, Kalser J, Kloeckner C, Lachmeijer G, Macchiaiolo M, Nicita F, Odent S, O'Heir E, Ortiz-Gonzalez X, Pacio-Miguez M, Palomares-Bralo M, Pena L, Platzer K, Quinodoz M, Ranza E, Rosenfeld JA, Roulet-Perez E, Santani A, Santos-Simarro F, Pode-Shakked B, Skraban C, Slaugh R, Superti-Furga A, Thiffault I, van Jaabrsveld RH, Vincent M, Wang HG, Zacher P; Undiagnosed Diseases Network; Rush E, Pitt GS, Au PYB, Shashi V. Rodan LH, et al. Genet Med. 2021 Oct;23(10):1922-1932. doi: 10.1038/s41436-021-01232-8. Epub 2021 Jun 23. Genet Med. 2021. PMID: 34163037 Free PMC article.
Voltage-Gated Calcium Channels in Nonexcitable Tissues.
Pitt GS, Matsui M, Cao C. Pitt GS, et al. Annu Rev Physiol. 2021 Feb 10;83:183-203. doi: 10.1146/annurev-physiol-031620-091043. Epub 2020 Oct 26. Annu Rev Physiol. 2021. PMID: 33106102 Free PMC article. Review.
Genetic variants and disease: correlate or cause?
Matsui M, Pitt GS. Matsui M, et al. Eur Heart J. 2016 May 7;37(18):1476-8. doi: 10.1093/eurheartj/ehv516. Epub 2015 Sep 28. Eur Heart J. 2016. PMID: 26419624 Free PMC article. No abstract available.
Multiple beta cell-independent mechanisms drive hypoglycemia in Timothy syndrome.
Matsui M, Lynch LE, Distefano I, Galante A, Gade AR, Wang HG, Gómez-Banoy N, Towers P, Sinden DS, Wei EQ, Barnett AS, Johnson K, Lima R, Rubio-Navarro A, Li AK, Marx SO, McGraw TE, Thornton PS, Timothy KW, Lo JC, Pitt GS. Matsui M, et al. Nat Commun. 2024 Oct 17;15(1):8980. doi: 10.1038/s41467-024-52885-3. Nat Commun. 2024. PMID: 39420001 Free PMC article.