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SPEN haploinsufficiency causes a neurodevelopmental disorder overlapping proximal 1p36 deletion syndrome with an episignature of X chromosomes in females.
Am J Hum Genet. 2021 Mar 4;108(3):502-516. doi: 10.1016/j.ajhg.2021.01.015. Epub 2021 Feb 16.
Am J Hum Genet. 2021.
PMID: 33596411
Free PMC article.
Bi-allelic LETM1 variants perturb mitochondrial ion homeostasis leading to a clinical spectrum with predominant nervous system involvement.
Kaiyrzhanov R, Mohammed SEM, Maroofian R, Husain RA, Catania A, Torraco A, Alahmad A, Dutra-Clarke M, Grønborg S, Sudarsanam A, Vogt J, Arrigoni F, Baptista J, Haider S, Feichtinger RG, Bernardi P, Zulian A, Gusic M, Efthymiou S, Bai R, Bibi F, Horga A, Martinez-Agosto JA, Lam A, Manole A, Rodriguez DP, Durigon R, Pyle A, Albash B, Dionisi-Vici C, Murphy D, Martinelli D, Bugiardini E, Allis K, Lamperti C, Reipert S, Risom L, Laugwitz L, Di Nottia M, McFarland R, Vilarinho L, Hanna M, Prokisch H, Mayr JA, Bertini ES, Ghezzi D, Østergaard E, Wortmann SB, Carrozzo R, Haack TB, Taylor RW, Spinazzola A, Nowikovsky K, Houlden H.
Kaiyrzhanov R, et al.
Am J Hum Genet. 2022 Sep 1;109(9):1692-1712. doi: 10.1016/j.ajhg.2022.07.007.
Am J Hum Genet. 2022.
PMID: 36055214
Free PMC article.
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Within-person association of volitional factors and physical activity: Insights from an ecological momentary assessment study.
Haag D, Carrozzo E, Pannicke B, Niebauer J, Blechert J.
Haag D, et al.
Psychol Sport Exerc. 2023 Sep;68:102445. doi: 10.1016/j.psychsport.2023.102445. Epub 2023 Apr 25.
Psychol Sport Exerc. 2023.
PMID: 37665897
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Oral purpura as the first manifestation of primary systemic amyloidosis.
McCormick RS, Sloan P, Farr D, Carrozzo M.
McCormick RS, et al.
Br J Oral Maxillofac Surg. 2016 Jul;54(6):697-9. doi: 10.1016/j.bjoms.2015.11.024. Epub 2015 Dec 18.
Br J Oral Maxillofac Surg. 2016.
PMID: 26708800
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