Di Muro E - Search Results

1

Multi-OMICs analysis on tridimensional fibroblast spheroids to model vascular Ehlers-Danlos syndrome pathogenesis.

Micale L, Di Muro E, De Cegli R, Tumaini B, Capuozzo A, Bernardi P, Morlino S, Fusco C, Nardella G, Mormone E, Vaccaro L, Del Prete E, Giachino D, Giuliani M, Leoni C, Mercadante F, Moroni A, Piscopo C, Zollino M, Cacchiarelli D, Sbarbati A, Medina DL, Di Bernardo D, Castori M. Micale L, et al. Among authors: di muro e. Biochim Biophys Acta Mol Basis Dis. 2025 Aug;1871(6):167896. doi: 10.1016/j.bbadis.2025.167896. Epub 2025 May 8. Biochim Biophys Acta Mol Basis Dis. 2025. PMID: 40345454

2

Variant sub-tiering, disease-gene associations and strictness of clinical criteria improves the interpretation of variants of uncertain significance in hereditary cardiomyopathies and rhythm disorders.

Castori M, Mastroianno S, Fontana A, Morlino S, Nardella G, Di Muro E, Palumbo P, Leone MP, Pracella R, Palumbo O, Petracca A, Potenza DR, Carella M, De Luca G, Coli C, Massaro RS, De Santis R, Vaccaro L, Cesana M, Cacchiarelli D, Copetti M, Fusco C, Di Stolfo G. Castori M, et al. Among authors: di muro e. J Hum Genet. 2025 Jul;70(7):349-358. doi: 10.1038/s10038-025-01344-y. Epub 2025 Apr 30. J Hum Genet. 2025. PMID: 40307381

3

Whole Blood Multi-OMIC Analysis Is Effective in Clinical Interpretation of Splicing Aberrations in PLOD1-Related Kyphoscoliotic Ehlers-Danlos Syndrome.

Russo F, Daolio C, Di Muro E, Pezzoli L, Goisis L, Vaccaro L, Iascone M, Cacchiarelli D, Castori M, Micale L. Russo F, et al. Among authors: di muro e. Am J Med Genet A. 2025 Apr 10:e64085. doi: 10.1002/ajmg.a.64085. Online ahead of print. Am J Med Genet A. 2025. PMID: 40205938

4

Long-Term Phenotypic Evolution in GRIN2A-Related Disorders: Electroclinical and Genetic Insights from Two Families with Extended Follow-Up.

Di Muro E, Palumbo P, Carella M, Benvenuto M, Bianchi MR, Costantino U, Di Maggio G, Castori M, d'Orsi G, Palumbo O. Di Muro E, et al. Genes (Basel). 2025 Mar 10;16(3):323. doi: 10.3390/genes16030323. Genes (Basel). 2025. PMID: 40149474 Free PMC article.

5

Gonadal Mosaicism for an ASH1L Intragenic Deletion Makes a Bridge Between MRD52 and 1q22 Microdeletion.

Di Muro E, Petracca A, Castori M, Palumbo O. Di Muro E, et al. Am J Med Genet A. 2025 Apr;197(4):e63960. doi: 10.1002/ajmg.a.63960. Epub 2024 Dec 10. Am J Med Genet A. 2025. PMID: 39655631

6

The Biallelic Inheritance of Two Novel SCN1A Variants Results in Developmental and Epileptic Encephalopathy Responsive to Levetiracetam.

Dinoi G, Conte E, Palumbo O, Benvenuto M, Coppola MA, Palumbo P, Lastella P, Boccanegra B, Di Muro E, Castori M, Carella M, Sciruicchio V, de Tommaso M, Liantonio A, De Luca A, La Neve A, Imbrici P. Dinoi G, et al. Among authors: di muro e. Biomedicines. 2024 Jul 31;12(8):1698. doi: 10.3390/biomedicines12081698. Biomedicines. 2024. PMID: 39200163 Free PMC article.

7

Identification of a Novel FOXP1 Variant in a Patient with Hypotonia, Intellectual Disability, and Severe Speech Impairment.

Benvenuto M, Palumbo P, Di Muro E, Perrotta CS, Mazza T, Mandarà GML, Palumbo O, Carella M. Benvenuto M, et al. Among authors: di muro e. Genes (Basel). 2023 Oct 18;14(10):1958. doi: 10.3390/genes14101958. Genes (Basel). 2023. PMID: 37895307 Free PMC article.

8

Association of CSF and PET markers of neurodegeneration with electroclinical progression in Lafora disease.

d'Orsi G, Farolfi A, Muccioli L, Palumbo O, Palumbo P, Modoni S, Allegri V, Garibotto V, Di Claudio MT, Di Muro E, Benvenuto M, Bisulli F, Carella M. d'Orsi G, et al. Among authors: di muro e. Front Neurol. 2023 Jun 28;14:1202971. doi: 10.3389/fneur.2023.1202971. eCollection 2023. Front Neurol. 2023. PMID: 37448753 Free PMC article.

9

Novel STAG1 Frameshift Mutation in a Patient Affected by a Syndromic Form of Neurodevelopmental Disorder.

Di Muro E, Palumbo P, Benvenuto M, Accadia M, Di Giacomo MC, Manieri S, Abate R, Tagliente M, Castellana S, Mazza T, Carella M, Palumbo O. Di Muro E, et al. Genes (Basel). 2021 Jul 23;12(8):1116. doi: 10.3390/genes12081116. Genes (Basel). 2021. PMID: 34440290 Free PMC article.

10

Whole Exome Sequencing Reveals a Novel AUTS2 In-Frame Deletion in a Boy with Global Developmental Delay, Absent Speech, Dysmorphic Features, and Cerebral Anomalies.

Palumbo P, Di Muro E, Accadia M, Benvenuto M, Di Giacomo MC, Castellana S, Mazza T, Castori M, Palumbo O, Carella M. Palumbo P, et al. Among authors: di muro e. Genes (Basel). 2021 Feb 5;12(2):229. doi: 10.3390/genes12020229. Genes (Basel). 2021. PMID: 33562463 Free PMC article.

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