Enrico Silvio Bertini
Overview
Explore the profile of Enrico Silvio Bertini including associated specialties, affiliations and a list of published articles.
Author names and details appear as published. Due to indexing inconsistencies, multiple individuals may share a name, and a single author may have variations. MedLuna displays this data as publicly available, without modification or verification
Snapshot
Snapshot
Articles
42
Citations
328
Followers
0
Related Specialties
Related Specialties
Top 10 Co-Authors
Top 10 Co-Authors
Published In
Published In
Affiliations
Affiliations
Soon will be listed here.
Recent Articles
1.
Petrini S, Bagnato G, Piccione M, DOria V, Apollonio V, Cappa M, et al.
Int J Mol Sci
. 2025 Jan;
25(24.
PMID: 39769130
Laminopathies represent a wide range of genetic disorders caused by mutations in gene-encoding proteins of the nuclear lamina. Altered nuclear mechanics have been associated with laminopathies, given the key role...
2.
De Dominicis A, Stregapede F, Colona V, Nicita F, Sartorelli J, Sparascio F, et al.
Seizure
. 2024 Aug;
121:141-146.
PMID: 39178560
Purpose: To report on a new phenotype in a patient carrying a novel, undescribed de novo variant in POLR3B, affected by generalized myoclonic epilepsy and neurodevelopmental disorder, without neuropathy. It...
3.
Berti B, Verrigni D, Nasca A, Di Nottia M, Leone D, Torraco A, et al.
Int J Mol Sci
. 2024 Jul;
25(14).
PMID: 39063023
Mitochondrial fission and fusion are vital dynamic processes for mitochondrial quality control and for the maintenance of cellular respiration; they also play an important role in the formation and maintenance...
4.
Lavorgna L, Maida E, Reinhard C, Cras P, Reetz K, Molnar M, et al.
Telemed J E Health
. 2024 Jul;
30(9):2419-2430.
PMID: 38946606
People with rare neurological diseases (RNDs) often experience symptoms related to movement disorders, requiring a multidisciplinary approach, including rehabilitation. Telemedicine applied to rehabilitation and symptom monitoring may be suitable to...
5.
Kalm T, Schob C, Voller H, Gardeitchik T, Gilissen C, Pfundt R, et al.
Am J Hum Genet
. 2024 May;
111(6):1206-1221.
PMID: 38772379
Utilizing trio whole-exome sequencing and a gene matching approach, we identified a cohort of 18 male individuals from 17 families with hemizygous variants in KCND1, including two de novo missense...
6.
Sartorelli J, Travaglini L, Macchiaiolo M, Garone G, Gonfiantini M, Vecchio D, et al.
Genes (Basel)
. 2024 Apr;
15(4).
PMID: 38674442
(1) Background: Cockayne syndrome (CS) is an ultra-rare multisystem disorder, classically subdivided into three forms and characterized by a clinical spectrum without a clear genotype-phenotype correlation for both the two...
7.
Perna A, Bosco L, Fattori F, Torchia E, Modoni A, Papacci M, et al.
Neuromuscul Disord
. 2024 Mar;
37:1-5.
PMID: 38430701
This report describes a novel TTN -related phenotype in two brothers, both affected by a childhood onset, very slowly progressive myopathy with cores, associated with dilated cardiomyopathy only in their...
8.
Cumbo F, Tosi M, Catteruccia M, Diodato D, Nicita F, Mizzoni I, et al.
Neuromuscul Disord
. 2024 Feb;
36:33-37.
PMID: 38340696
It has long been reported that neuropsychological deficits may be present in dystrophinopathies, specifically non-progressive cognitive impairment and a global deficit in executive functions; this neurocognitive profile has been less...
9.
Bertini E, Tizzano E, Abiusi E, Baranello G, Bertini E, Boemer F, et al.
Neuromuscul Disord
. 2024 Jan;
34:114-122.
PMID: 38183850
The 270th ENMC workshop aimed to develop a common procedure to optimize the reliability of SMN2 gene copy number determination and to reinforce collaborative networks between molecular scientists and clinicians....
10.
Perrin A, Metay C, Savarese M, Ben Yaou R, Demidov G, Nelson I, et al.
J Med Genet
. 2023 Nov;
61(4):369-377.
PMID: 37935568
Background: Titinopathies are caused by mutations in the titin gene (). Titin is the largest known human protein; its gene has the longest coding phase with 364 exons. Titinopathies are...