Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

Search Page

Filters

My Custom Filters

Publication date

Text availability

Article attribute

Article type

Additional filters

Article Language

Species

Sex

Age

Other

Search Results

251 results

Filters applied: . Clear all
Results are displayed in a computed author sort order. The Publication Date timeline is not available.
Page 1
Expanding the Clinical Spectrum of UBTF-Related Neurodevelopmental Disorder.
Pietra A, Palombo F, Giannotta M, Maffei M, Fiorini C, Costa R, Cenacchi G, Carelli V, Cordelli DM, Pini A, Garone C. Pietra A, et al. Among authors: cenacchi g. Neurol Genet. 2023 Nov 14;9(6):e200098. doi: 10.1212/NXG.0000000000200098. eCollection 2023 Dec. Neurol Genet. 2023. PMID: 38235043 Free PMC article.
COQ7 defect causes prenatal onset of mitochondrial CoQ10 deficiency with cardiomyopathy and gastrointestinal obstruction.
Pettenuzzo I, Carli S, Sánchez-Cuesta A, Isidori F, Montanari F, Grippa M, Lanzoni G, Ambrosetti I, Di Pisa V, Cordelli DM, Mondardini MC, Pippucci T, Ragni L, Cenacchi G, Costa R, Lima M, Capristo MA, Tropeano CV, Caporali L, Carelli V, Brunelli E, Maffei M, Ahmed Sheikhmaye H, Fetta A, Brea-Calvo G, Garone C. Pettenuzzo I, et al. Among authors: cenacchi g. Eur J Hum Genet. 2024 Aug;32(8):938-946. doi: 10.1038/s41431-024-01615-w. Epub 2024 May 3. Eur J Hum Genet. 2024. PMID: 38702428 Free PMC article.
Magnetic resonance imaging scoring system of the lower limbs in adult patients with suspected idiopathic inflammatory myopathy.
Gramegna LL, Rinaldi R, Belotti LMB, Vignatelli L, Sighinolfi G, Papa V, Costa R, D'Angelo R, Bianchini C, Graziano C, Cirignotta L, Mule R, Manners DN, Tonon C, Cenacchi G, Lodi R. Gramegna LL, et al. Among authors: cenacchi g. Neurol Sci. 2024 Jul;45(7):3461-3470. doi: 10.1007/s10072-024-07386-y. Epub 2024 Feb 21. Neurol Sci. 2024. PMID: 38383748 Free PMC article.
Correlations Between Cardiac Magnetic Resonance and Myocardial Histologic Findings in Fabry Disease.
Ditaranto R, Leone O, Lovato L, Niro F, Cenacchi G, Papa V, Baldovini C, Ferracin M, Salamon I, Kurdi H, Parisi V, Capelli I, Pession A, Liguori R, Potena L, Seri M, Martin Suarez S, Galiè N, Moon JC, Biagini E. Ditaranto R, et al. Among authors: cenacchi g. JACC Cardiovasc Imaging. 2023 Dec;16(12):1629-1632. doi: 10.1016/j.jcmg.2023.06.011. Epub 2023 Aug 2. JACC Cardiovasc Imaging. 2023. PMID: 37542504 Free article. No abstract available.
Fabry Disease Nephropathy: Histological Changes With Nonclassical Mutations and Genetic Variants of Unknown Significance.
Santostefano M, Cappuccilli M, Gibertoni D, Fabbrizio B, Malvi D, Demetri M, Capelli I, Tringali E, Papa V, Biagini E, Cenacchi G, Galdi A, Donadio V, Liguori R, Zoli G, La Manna G, Pasquinelli G. Santostefano M, et al. Among authors: cenacchi g. Am J Kidney Dis. 2023 Nov;82(5):581-596.e0. doi: 10.1053/j.ajkd.2023.03.015. Epub 2023 Jun 9. Am J Kidney Dis. 2023. PMID: 37301502
IRF2BPL as a novel causative gene for progressive myoclonus epilepsy.
Gardella E, Michelucci R, Christensen HM, Fenger CD, Reale C, Riguzzi P, Pasini E, Albini-Riccioli L, Papa V, Foschini MP, Cenacchi G, Furia F, Marjanovic D, Hammer TB, Møller RS, Rubboli G. Gardella E, et al. Among authors: cenacchi g. Epilepsia. 2023 Aug;64(8):e170-e176. doi: 10.1111/epi.17634. Epub 2023 Jun 8. Epilepsia. 2023. PMID: 37114479
Cardiac Functional and Structural Abnormalities in a Mouse Model of CDKL5 Deficiency Disorder.
Loi M, Bastianini S, Candini G, Rizzardi N, Medici G, Papa V, Gennaccaro L, Mottolese N, Tassinari M, Uguagliati B, Berteotti C, Martire VL, Zoccoli G, Cenacchi G, Trazzi S, Bergamini C, Ciani E. Loi M, et al. Among authors: cenacchi g. Int J Mol Sci. 2023 Mar 14;24(6):5552. doi: 10.3390/ijms24065552. Int J Mol Sci. 2023. PMID: 36982627 Free PMC article.
251 results