Maria Elena Cicardi
Overview
Explore the profile of Maria Elena Cicardi including associated specialties, affiliations and a list of published articles.
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Articles
23
Citations
729
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Recent Articles
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Barnada S, Giner de Gracia A, Morenilla-Palao C, Lopez-Cascales M, Scopa C, Waltrich Jr F, et al.
Am J Hum Genet
. 2024 Sep;
111(10):2232-2252.
PMID: 39226899
The BAF chromatin remodeler regulates lineage commitment including cranial neural crest cell (CNCC) specification. Variants in BAF subunits cause Coffin-Siris syndrome (CSS), a congenital disorder characterized by coarse craniofacial features...
3.
Nelson A, Cicardi M, Markandaiah S, Han J, Philp N, Welebob E, et al.
EMBO Rep
. 2024 Apr;
25(5):2479-2510.
PMID: 38684907
The most prevalent genetic cause of both amyotrophic lateral sclerosis and frontotemporal dementia is a (GGGGCC) nucleotide repeat expansion (NRE) occurring in the first intron of the C9orf72 gene (C9)....
4.
Galbiati M, Meroni M, Boido M, Cescon M, Rusmini P, Crippa V, et al.
Neurotherapeutics
. 2023 Jan;
20(2):524-545.
PMID: 36717478
Spinal and bulbar muscular atrophy (SBMA) is characterized by motor neuron (MN) degeneration that leads to slowly progressive muscle weakness. It is considered a neuromuscular disease since muscle has a...
5.
Gleixner A, Verdone B, Otte C, Anderson E, Ramesh N, Shapiro O, et al.
Nat Commun
. 2022 Jun;
13(1):3380.
PMID: 35697676
A G4C2 hexanucleotide repeat expansion in the C9orf72 gene is the most common genetic cause of ALS and FTLD (C9-ALS/FTLD) with cytoplasmic TDP-43 inclusions observed in regions of neurodegeneration. The...
6.
Verdone B, Cicardi M, Wen X, Sriramoji S, Russell K, Markandaiah S, et al.
Sci Rep
. 2022 Apr;
12(1):5644.
PMID: 35379876
Translation of the hexanucleotide G4C2 expansion associated with C9orf72 amyotrophic lateral sclerosis and frontotemporal dementia (ALS/FTD) produces five different dipeptide repeat protein (DPR) species that can confer toxicity. There is...
7.
Cicardi M, Marrone L, Azzouz M, Trotti D
EMBO J
. 2021 Apr;
40(10):e106389.
PMID: 33792056
Amyotrophic lateral sclerosis (ALS) is a fatal neurodegenerative disorder whose exact causative mechanisms are still under intense investigation. Several lines of evidence suggest that the anatomical and temporal propagation of...
8.
Cristofani R, Crippa V, Cicardi M, Tedesco B, Ferrari V, Chierichetti M, et al.
Front Aging Neurosci
. 2020 Aug;
12:191.
PMID: 32792938
Motor neuron diseases (MNDs) are fatal diseases characterized by loss of motor neurons in the brain cortex, in the bulbar region, and/or in the anterior horns of the spinal cord....
9.
Rusmini P, Cristofani R, Tedesco B, Ferrari V, Messi E, Piccolella M, et al.
Int J Mol Sci
. 2020 May;
21(10).
PMID: 32414108
Background: Accumulation of misfolded proteins is a common hallmark of several neurodegenerative disorders (NDs) which results from a failure or an impairment of the protein quality control (PQC) system. The...
10.
Cicardi M, Cristofani R, Crippa V, Ferrari V, Tedesco B, Casarotto E, et al.
Front Endocrinol (Lausanne)
. 2019 Sep;
10:569.
PMID: 31481932
Spinal and bulbar muscular atrophy (SBMA) is an X-linked motoneuron disease (MND) caused by a mutant androgen receptor (AR) containing an elongated polyglutamine (polyQ) tract. ARpolyQ toxicity is triggered by...