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Phenotypic expansion of CACNA1C-associated disorders to include isolated neurological manifestations.
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.
Pathogenic Huntingtin Repeat Expansions in Patients with Frontotemporal Dementia and Amyotrophic Lateral Sclerosis.
Dewan R, Chia R, Ding J, Hickman RA, Stein TD, Abramzon Y, Ahmed S, Sabir MS, Portley MK, Tucci A, Ibáñez K, Shankaracharya FNU, Keagle P, Rossi G, Caroppo P, Tagliavini F, Waldo ML, Johansson PM, Nilsson CF; American Genome Center (TAGC); FALS Sequencing Consortium; Genomics England Research Consortium; International ALS/FTD Genomics Consortium (iAFGC); International FTD Genetics Consortium (IFGC); International LBD Genomics Consortium (iLBDGC); NYGC ALS Consortium; PROSPECT Consortium; Rowe JB, Benussi L, Binetti G, Ghidoni R, Jabbari E, Viollet C, Glass JD, Singleton AB, Silani V, Ross OA, Ryten M, Torkamani A, Tanaka T, Ferrucci L, Resnick SM, Pickering-Brown S, Brady CB, Kowal N, Hardy JA, Van Deerlin V, Vonsattel JP, Harms MB, Morris HR, Ferrari R, Landers JE, Chiò A, Gibbs JR, Dalgard CL, Scholz SW, Traynor BJ.
Dewan R, et al.
Neuron. 2021 Feb 3;109(3):448-460.e4. doi: 10.1016/j.neuron.2020.11.005. Epub 2020 Nov 26.
Neuron. 2021.
PMID: 33242422
Free PMC article.
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The Incidence of Vertebral Exostoses in Multiple Hereditary Exostoses and Recommendations for Spinal Screening.
Wininger AE, Chhabra BN, Haigler RE, Hanson DS, Scott AC.
Wininger AE, et al.
J Pediatr Orthop. 2021 Mar 1;41(3):e226-e231. doi: 10.1097/BPO.0000000000001749.
J Pediatr Orthop. 2021.
PMID: 33417389
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Correction: 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):2016. doi: 10.1038/s41436-021-01306-7.
Genet Med. 2021.
PMID: 34522029
Free article.
No abstract available.
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Phenotypic expansion of POGZ-related intellectual disability syndrome (White-Sutton syndrome).
Assia Batzir N, Posey JE, Song X, Akdemir ZC, Rosenfeld JA, Brown CW, Chen E, Holtrop SG, Mizerik E, Nieto Moreno M, Payne K, Raas-Rothschild A, Scott R, Vernon HJ, Zadeh N; Baylor-Hopkins Center for Mendelian Genomics; Lupski JR, Sutton VR.
Assia Batzir N, et al.
Am J Med Genet A. 2020 Jan;182(1):38-52. doi: 10.1002/ajmg.a.61380. Epub 2019 Nov 29.
Am J Med Genet A. 2020.
PMID: 31782611
Free PMC article.
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Traumatic Migration of the Bryan Cervical Disc Arthroplasty.
Wagner SC, Kang DG, Helgeson MD.
Wagner SC, et al.
Global Spine J. 2016 Feb;6(1):e15-20. doi: 10.1055/s-0035-1550092. Epub 2015 Apr 23.
Global Spine J. 2016.
PMID: 26835211
Free PMC article.
Objective To describe a case of dislodgment and migration of the Bryan Cervical Disc (Medtronic Sofamor Danek, Memphis, Tennessee, United States) arthroplasty more than 6 months after implantation secondary to low-energy trauma. ...
Objective To describe a case of dislodgment and migration of the Bryan Cervical Disc (Medtronic Sofamor Danek, Memphis, Tennessee, Un …
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Local FK506 delivery induces osteogenesis in in vivo rat bone defect and rabbit spine fusion models.
Harrer JA, Fulton TM, Sangadala S, Kaiser J, Devereaux EJ, Oliver C, Presciutti SM, Boden SD, Willett NJ.
Harrer JA, et al.
bioRxiv [Preprint]. 2024 Mar 13:2024.03.08.584163. doi: 10.1101/2024.03.08.584163.
bioRxiv. 2024.
PMID: 38559240
Free PMC article.
Preprint.
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