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Page 1
Pathogenic Variants in GPC4 Cause Keipert Syndrome.
Amor DJ, Stephenson SEM, Mustapha M, Mensah MA, Ockeloen CW, Lee WS, Tankard RM, Phelan DG, Shinawi M, de Brouwer APM, Pfundt R, Dowling C, Toler TL, Sutton VR, Agolini E, Rinelli M, Capolino R, Martinelli D, Zampino G, Dumić M, Reardon W, Shaw-Smith C, Leventer RJ, Delatycki MB, Kleefstra T, Mundlos S, Mortier G, Bahlo M, Allen NJ, Lockhart PJ. Amor DJ, et al. Among authors: martinelli d. Am J Hum Genet. 2019 May 2;104(5):914-924. doi: 10.1016/j.ajhg.2019.02.026. Epub 2019 Apr 11. Am J Hum Genet. 2019. PMID: 30982611 Free PMC article.
COQ4 mutations cause a broad spectrum of mitochondrial disorders associated with CoQ10 deficiency.
Brea-Calvo G, Haack TB, Karall D, Ohtake A, Invernizzi F, Carrozzo R, Kremer L, Dusi S, Fauth C, Scholl-Bürgi S, Graf E, Ahting U, Resta N, Laforgia N, Verrigni D, Okazaki Y, Kohda M, Martinelli D, Freisinger P, Strom TM, Meitinger T, Lamperti C, Lacson A, Navas P, Mayr JA, Bertini E, Murayama K, Zeviani M, Prokisch H, Ghezzi D. Brea-Calvo G, et al. Among authors: martinelli d. Am J Hum Genet. 2015 Feb 5;96(2):309-17. doi: 10.1016/j.ajhg.2014.12.023. Am J Hum Genet. 2015. PMID: 25658047 Free PMC article.
CUGC for hyperornithinemia-hyperammonemia-homocitrullinuria (HHH) syndrome.
Martinelli D, Fiermonte G, Häberle J, Boenzi S, Goffredo BM, Travaglini L, Agolini E, Porcelli V, Dionisi-Vici C. Martinelli D, et al. Eur J Hum Genet. 2020 Jul;28(7):982-987. doi: 10.1038/s41431-020-0616-x. Epub 2020 Apr 2. Eur J Hum Genet. 2020. PMID: 32242103 Free PMC article. No abstract available.
CUGC for lysinuric protein intolerance (LPI).
Martinelli D, Schiff M, Semeraro M, Agolini E, Novelli A, Dionisi-Vici C. Martinelli D, et al. Eur J Hum Genet. 2020 Aug;28(8):1129-1134. doi: 10.1038/s41431-020-0617-9. Epub 2020 Apr 6. Eur J Hum Genet. 2020. PMID: 32249831 Free PMC article. No abstract available.
A Recurrent Gain-of-Function Mutation in CLCN6, Encoding the ClC-6 Cl-/H+-Exchanger, Causes Early-Onset Neurodegeneration.
Polovitskaya MM, Barbini C, Martinelli D, Harms FL, Cole FS, Calligari P, Bocchinfuso G, Stella L, Ciolfi A, Niceta M, Rizza T, Shinawi M, Sisco K, Johannsen J, Denecke J, Carrozzo R, Wegner DJ, Kutsche K, Tartaglia M, Jentsch TJ. Polovitskaya MM, et al. Among authors: martinelli d. Am J Hum Genet. 2020 Dec 3;107(6):1062-1077. doi: 10.1016/j.ajhg.2020.11.004. Epub 2020 Nov 19. Am J Hum Genet. 2020. PMID: 33217309 Free PMC article.
Epilepsy and BRAF Mutations: Phenotypes, Natural History and Genotype-Phenotype Correlations.
Battaglia DI, Gambardella ML, Veltri S, Contaldo I, Chillemi G, Veredice C, Quintiliani M, Leoni C, Onesimo R, Verdolotti T, Radio FC, Martinelli D, Trivisano M, Specchio N, Dravet C, Tartaglia M, Zampino G. Battaglia DI, et al. Among authors: martinelli d. Genes (Basel). 2021 Aug 26;12(9):1316. doi: 10.3390/genes12091316. Genes (Basel). 2021. PMID: 34573299 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. Among authors: martinelli d. 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.
Exploiting in silico structural analysis to introduce emerging genotype-phenotype correlations in DHCR24-related sterol biosynthesis disorder: a case study.
Cocciadiferro D, Mazza T, Vecchio D, Biagini T, Petrizzelli F, Agolini E, Villani A, Minervino D, Martinelli D, Rizzo C, Boenzi S, Panfili FM, Buonuomo PS, Macchiaiolo M, Bartuli A, Novelli A. Cocciadiferro D, et al. Among authors: martinelli d. Front Genet. 2024 Jan 4;14:1307934. doi: 10.3389/fgene.2023.1307934. eCollection 2023. Front Genet. 2024. PMID: 38239854 Free PMC article.
A novel AIFM1 mutation expands the phenotype to an infantile motor neuron disease.
Diodato D, Tasca G, Verrigni D, D'Amico A, Rizza T, Tozzi G, Martinelli D, Verardo M, Invernizzi F, Nasca A, Bellacchio E, Ghezzi D, Piemonte F, Dionisi-Vici C, Carrozzo R, Bertini E. Diodato D, et al. Among authors: martinelli d, d amico a. Eur J Hum Genet. 2016 Mar;24(3):463-6. doi: 10.1038/ejhg.2015.141. Epub 2015 Jul 15. Eur J Hum Genet. 2016. PMID: 26173962 Free PMC article.
448 results