Results 1 to 10 of about 13,537,879 (292)

Proteomic Profiling Towards a Better Understanding of Genetic Based Muscular Diseases: The Current Picture and a Look to the Future. [PDF]

Biomolecules
Proteomics accelerates diagnosis and research of muscular diseases by enabling the robust analysis of proteins relevant for the manifestation of neuromuscular diseases in the following aspects: (i) evaluation of the effect of genetic variants on the ...
Pauper M, Hentschel A, Tiburcy M, Beltran S, Ruck T, Schara-Schmidt U, Roos A.   +6 more
europepmc   +2 more sources

Statistical insights into major human muscular diseases. [PDF]

Hum Mol Genet, 2014
Gupta S, Kim SM, Wang Y, Dinasarapu AR, Subramaniam S.   +4 more
europepmc   +2 more sources

Antioxidant Response in Human X-Linked Adrenoleukodystrophy Fibroblasts

Antioxidants, 2022
Redox imbalance, mitochondrial dysfunction, and inflammation play a major role in the pathophysiology of X-linked adrenoleukodystrophy (X-ALD), an inherited neurodegenerative disease caused by mutations in the ABCD1 gene, encoding the protein responsible
Sara Petrillo, Jessica D’Amico, Francesco Nicita, Caterina Torda, Gessica Vasco, Enrico S. Bertini, Marco Cappa, Fiorella Piemonte   +7 more
doaj   +1 more source

Intramuscular Hemangioma: A Rare Cause of Omalgia [PDF]

Revista Brasileira de Ortopedia, 2023
Intramuscular hemangiomas (IHs) are benign soft-tissue tumors that represent less than 1% of all hemangiomas. This clinical entity is rarely considered as a differential diagnosis in cases of musculoskeletal pain. A healthy 38-year-old woman presented to
Pedro M. Guedes, Nuno A. Saldanha, Pedro M. Matos, Francisco S. Carvalho, Graça Veiga, Pedro Norton   +5 more
doaj   +1 more source

Oxidative Stress in DNA Repeat Expansion Disorders: A Focus on NRF2 Signaling Involvement

Biomolecules, 2020
DNA repeat expansion disorders are a group of neuromuscular and neurodegenerative diseases that arise from the inheritance of long tracts of nucleotide repetitions, located in the regulatory region, introns, or inside the coding sequence of a gene ...
Piergiorgio La Rosa, Sara Petrillo, Enrico Silvio Bertini, Fiorella Piemonte   +3 more
doaj   +1 more source

Impact and management of drooling in children with neurological disorders: an Italian Delphi consensus

Italian Journal of Pediatrics, 2022
Background The rate of chronic drooling in children older than 4 years is 0.5%, but it rises to 60% in those with neurological disorders. Physical and psychosocial consequences lead to a reduction in the quality of Life (QoL) of affected patients ...
Antonella Riva, Elisabetta Amadori, Maria Stella Vari, Alberto Spalice, Vincenzo Belcastro, Maurizio Viri, Donatella Capodiferro, Antonino Romeo, Alberto Verrotti, the Delphi panel experts’ group, Pasquale Striano   +10 more
doaj   +1 more source

New Trends and Most Promising Therapeutic Strategies for Epilepsy Treatment

Frontiers in Neurology, 2021
Background: Despite the wide availability of novel anti-seizure medications (ASMs), 30% of patients with epilepsy retain persistent seizures with a significant burden in comorbidity and an increased risk of premature death.
Antonella Riva, Antonella Riva, Alice Golda, Ganna Balagura, Elisabetta Amadori, Elisabetta Amadori, Maria Stella Vari, Gianluca Piccolo, Michele Iacomino, Simona Lattanzi, Vincenzo Salpietro, Vincenzo Salpietro, Carlo Minetti, Carlo Minetti, Pasquale Striano, Pasquale Striano   +15 more
doaj   +1 more source

Nuclear Factor Erythroid 2-Related Factor 2 Activation Might Mitigate Clinical Symptoms in Friedreich’s Ataxia: Clues of an “Out-Brain Origin” of the Disease From a Family Study

Frontiers in Neuroscience, 2021
Friedreich’s ataxia (FRDA) is the most frequent autosomal recessive ataxia in western countries, with a mean age of onset at 10–15 years. Patients manifest progressive cerebellar and sensory ataxia, dysarthria, lower limb pyramidal weakness, and other ...
Sara Petrillo, Massimo Santoro, Piergiorgio La Rosa, Alessia Perna, Maria Giovanna Gallo, Enrico Silvio Bertini, Gabriella Silvestri, Gabriella Silvestri, Fiorella Piemonte   +8 more
doaj   +1 more source

WNT-β Catenin Signaling as a Potential Therapeutic Target for Neurodegenerative Diseases: Current Status and Future Perspective

Diseases, 2023
Wnt/β-catenin (WβC) signaling pathway is an important signaling pathway for the maintenance of cellular homeostasis from the embryonic developmental stages to adulthood.
Kakarla Ramakrishna, Lakshmi Vineela Nalla, D. Naresh, Kojja Venkateswarlu, M. K. Viswanadh, B. N. Nalluri, Guntupalli Chakravarthy, Sajusha Duguluri, Payal Singh, S. Rai, Ashish Kumar, Veer Singh, Santoshkumar Singh   +12 more
semanticscholar   +1 more source

The ferroptosis inducer RSL3 triggers interictal epileptiform activity in mice cortical neurons

Frontiers in Cellular Neuroscience, 2023
Epilepsy is a neurological disorder characterized by recurrent seizures, which result from excessive, synchronous discharges of neurons in different brain areas. In about 30% of cases, epileptic discharges, which vary in their etiology and symptomatology,
Michela Giustizieri, Sara Petrillo, Jessica D’Amico, Caterina Torda, Andrea Quatrana, Federico Vigevano, Nicola Specchio, Fiorella Piemonte, Enrico Cherubini   +8 more
doaj   +1 more source