Works matching AU Bertini, Enrico
Results: 331
Protein glutathionylation in cellular compartments: A constitutive redox signal.
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- Redox Report, 2012, v. 17, n. 2, p. 63, doi. 10.1179/1351000212Y.0000000009
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- Article
A Novel Mutation in RPL10 (Ribosomal Protein L10) Causes X-Linked Intellectual Disability, Cerebellar Hypoplasia, and Spondylo-Epiphyseal Dysplasia.
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- Human Mutation, 2015, v. 36, n. 12, p. 1155, doi. 10.1002/humu.22860
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- Article
Mutation Update and Genotype-Phenotype Correlations of Novel and Previously Described Mutations in TPM2 and TPM3 Causing Congenital Myopathies.
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- Human Mutation, 2014, v. 35, n. 7, p. 779, doi. 10.1002/humu.22554
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- Article
Insertion of 16 amino acids in the BAR domain of the oligophrenin 1 protein causes mental retardation and cerebellar hypoplasia in an Italian family.
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- Human Mutation, 2011, v. 32, n. 11, p. E2294, doi. 10.1002/humu.21567
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- Article
Novel TMEM67 mutations and genotype-phenotype correlates in meckelin-related ciliopathies.
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- Human Mutation, 2010, v. 31, n. 5, p. E1319, doi. 10.1002/humu.21239
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- Article
Identification and characterization of novel collagen VI non-canonical splicing mutations causing ullrich congenital muscular dystrophy.
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- Human Mutation, 2009, v. 30, n. 5, p. E662, doi. 10.1002/humu.21022
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- Article
Mutations in MFSD8/CLN7 are a frequent cause of variant-late infantile neuronal ceroid lipofuscinosis.
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- Human Mutation, 2009, v. 30, n. 3, p. E530, doi. 10.1002/humu.20975
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- Article
MKS3/TMEM67 mutations are a major cause of COACH Syndrome, a Joubert Syndrome related disorder with liver involvement.
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- Human Mutation, 2009, v. 30, n. 2, p. E432, doi. 10.1002/humu.20924
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- Article
The expanding phenotype of POMT1 mutations: from Walker-Warburg syndrome to congenital muscular dystrophy, microcephaly, and mental retardation.
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- Human Mutation, 2006, v. 27, n. 5, p. 453, doi. 10.1002/humu.20313
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- Article
Vacuolating megalencephalic leukoencephalopathy with subcortical cysts: functional studies of novel variants in MLC1.
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- Human Mutation, 2006, v. 27, n. 3, p. 292, doi. 10.1002/humu.9407
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- Article
A novel CBFA1 mutation (R190W) in an Italian family with cleidocranial dysplasia.
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- Human Mutation, 2000, v. 16, n. 3, p. 277, doi. 10.1002/1098-1004(200009)16:3<277::AID-HUMU25>3.0.CO;2-V
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- Article
Somatic mosaicism in TPM2-related myopathy with nemaline rods and cap structures.
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- Acta Neuropathologica, 2013, v. 125, n. 1, p. 169, doi. 10.1007/s00401-012-1049-6
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- Article
HDAC inhibitors tune miRNAs in extracellular vesicles of dystrophic muscle‐resident mesenchymal cells.
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- EMBO Reports, 2020, v. 21, n. 9, p. 1, doi. 10.15252/embr.202050863
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- Article
A Clinical and Epidemiological Prevalence Study on Friedreich's Ataxia in Latium, Italy.
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- Neuroepidemiology, 2022, v. 56, n. 3, p. 212, doi. 10.1159/000525159
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- Article
Expanding the clinical-pathological and genetic spectrum of RYR1-related congenital myopathies with cores and minicores: an Italian population study.
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- Acta Neuropathologica Communications, 2022, v. 10, n. 1, p. 1, doi. 10.1186/s40478-022-01357-0
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- Article
Genome-wide RNA-seq of iPSC-derived motor neurons indicates selective cytoskeletal perturbation in Brown-Vialetto disease that is partially rescued by riboflavin.
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- Scientific Reports, 2017, p. 46271, doi. 10.1038/srep46271
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- Article
Three Cases of Spinocerebellar Ataxia Type 2 (SCA2) and Pediatric Literature Review: Do Not Forget Trinucleotide Repeat Disorders in Childhood-Onset Progressive Ataxia.
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- Brain Sciences (2076-3425), 2025, v. 15, n. 2, p. 156, doi. 10.3390/brainsci15020156
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- Article
A New Case of Autosomal-Dominant POLR3B -Related Disorder: Widening Genotypic and Phenotypic Spectrum.
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- 2023
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- Case Study
Neurological and Neuroimaging Features of CYB5R3 -Related Recessive Hereditary Methemoglobinemia Type II.
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- 2022
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- Publication type:
- Case Study
Expanding the Clinical and Mutational Spectrum of the PLP1 -Related Hypomyelination of Early Myelinated Structures (HEMS).
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- Brain Sciences (2076-3425), 2021, v. 11, n. 1, p. 93, doi. 10.3390/brainsci11010093
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- Article
Nusinersen Induces Disease-Severity-Specific Neurometabolic Effects in Spinal Muscular Atrophy.
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- Biomolecules (2218-273X), 2022, v. 12, n. 10, p. N.PAG, doi. 10.3390/biom12101431
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- Article
Diagnostic Yield of a Targeted Next-Generation Sequencing Gene Panel for Pediatric-Onset Movement Disorders: A 3-Year Cohort Study.
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- Frontiers in Genetics, 2019, v. 10, p. 1, doi. 10.3389/fgene.2019.01026
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- Article
Renal involvement in mitochondrial cytopathies.
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- Pediatric Nephrology, 2012, v. 27, n. 4, p. 539, doi. 10.1007/s00467-011-1926-6
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- Article
“Bartter-like” phenotype in Kearns–Sayre syndrome.
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- Pediatric Nephrology, 2006, v. 21, n. 3, p. 355, doi. 10.1007/s00467-005-2092-5
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- Article
Spectrum of ERCC6 -Related Cockayne Syndrome (Type B): From Mild to Severe Forms.
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- Genes, 2024, v. 15, n. 4, p. 508, doi. 10.3390/genes15040508
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- Article
Clinical and Genetic Aspects of Phelan–McDermid Syndrome: An Interdisciplinary Approach to Management.
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- Genes, 2022, v. 13, n. 3, p. 504, doi. 10.3390/genes13030504
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- Article
Mitochondrial Dynamics: Molecular Mechanisms, Related Primary Mitochondrial Disorders and Therapeutic Approaches.
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- Genes, 2021, v. 12, n. 2, p. 247, doi. 10.3390/genes12020247
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- Article
Keloids, Spontaneous or After Minor Skin Injury: Importance of Not Missing Bethlem Myopathy.
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- Acta Dermato-Venereologica, 2017, v. 97, n. 2, p. 297, doi. 10.2340/00015555-2523
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- Article
Cyclosporine A in Ullrich Congenital Muscular Dystrophy: Long-Term Results.
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- Oxidative Medicine & Cellular Longevity, 2011, v. 2011, p. 1, doi. 10.1155/2011/139194
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- Article
Mitochondrial DNA depletion syndrome presenting with ataxia and external ophthalmoplegia: Case report.
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- 2012
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- Case Study
Genotype-specific effects of elamipretide in patients with primary mitochondrial myopathy: a post hoc analysis of the MMPOWER-3 trial.
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- Orphanet Journal of Rare Diseases, 2024, v. 19, n. 1, p. 1, doi. 10.1186/s13023-024-03421-5
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- Article
Imaging-Based Molecular Interaction Between Src and Lamin A/C Mechanosensitive Proteins in the Nucleus of Laminopathic Cells.
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- International Journal of Molecular Sciences, 2024, v. 25, n. 24, p. 13365, doi. 10.3390/ijms252413365
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- Article
Differential Gene Expression in Late-Onset Friedreich Ataxia: A Comparative Transcriptomic Analysis Between Symptomatic and Asymptomatic Sisters.
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- International Journal of Molecular Sciences, 2024, v. 25, n. 21, p. 11615, doi. 10.3390/ijms252111615
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- Article
De Novo DNM1L Mutation in a Patient with Encephalopathy, Cardiomyopathy and Fatal Non-Epileptic Paroxysmal Refractory Vomiting.
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- International Journal of Molecular Sciences, 2024, v. 25, n. 14, p. 7782, doi. 10.3390/ijms25147782
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- Article
Deciphering the Tubulin Language: Molecular Determinants and Readout Mechanisms of the Tubulin Code in Neurons.
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- 2023
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- Literature Review
Novel Splicing Mutation in MTM1 Leading to Two Abnormal Transcripts Causes Severe Myotubular Myopathy.
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- International Journal of Molecular Sciences, 2022, v. 23, n. 18, p. N.PAG, doi. 10.3390/ijms231810274
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- Article
Deep Molecular Characterization of Milder Spinal Muscular Atrophy Patients Carrying the c.859G>C Variant in SMN2.
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- International Journal of Molecular Sciences, 2022, v. 23, n. 15, p. 8289, doi. 10.3390/ijms23158289
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- Article
Superior Cerebellar Atrophy: An Imaging Clue to Diagnose ITPR1 -Related Disorders.
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- International Journal of Molecular Sciences, 2022, v. 23, n. 12, p. 6723, doi. 10.3390/ijms23126723
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- Article
Modeling PCDH19-CE: From 2D Stem Cell Model to 3D Brain Organoids.
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- International Journal of Molecular Sciences, 2022, v. 23, n. 7, p. 3506, doi. 10.3390/ijms23073506
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- Article
Induced Pluripotent Stem Cells (iPSCs) and Gene Therapy: A New Era for the Treatment of Neurological Diseases.
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- International Journal of Molecular Sciences, 2021, v. 22, n. 24, p. 13674, doi. 10.3390/ijms222413674
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- Article
Antioxidant Amelioration of Riboflavin Transporter Deficiency in Motoneurons Derived from Patient-Specific Induced Pluripotent Stem Cells.
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- International Journal of Molecular Sciences, 2020, v. 21, n. 19, p. 7402, doi. 10.3390/ijms21197402
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- Article
Microtubule Dysfunction: A Common Feature of Neurodegenerative Diseases.
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- International Journal of Molecular Sciences, 2020, v. 21, n. 19, p. 7354, doi. 10.3390/ijms21197354
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- Article
Clinical and Genetic Overview of Paroxysmal Movement Disorders and Episodic Ataxias.
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- International Journal of Molecular Sciences, 2020, v. 21, n. 10, p. 3603, doi. 10.3390/ijms21103603
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- Article
TUBB Variants Underlying Different Phenotypes Result in Altered Vesicle Trafficking and Microtubule Dynamics.
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- International Journal of Molecular Sciences, 2020, v. 21, n. 4, p. 1385, doi. 10.3390/ijms21041385
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- Article
The NRF2 Signaling Network Defines Clinical Biomarkers and Therapeutic Opportunity in Friedreich's Ataxia.
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- International Journal of Molecular Sciences, 2020, v. 21, n. 3, p. 916, doi. 10.3390/ijms21030916
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- Article
Targeting NRF2 for the Treatment of Friedreich's Ataxia: A Comparison among Drugs.
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- International Journal of Molecular Sciences, 2019, v. 20, n. 20, p. 5211, doi. 10.3390/ijms20205211
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- Article
The Potential of iPSCs for the Treatment of Premature Aging Disorders.
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- International Journal of Molecular Sciences, 2017, v. 18, n. 11, p. 2350, doi. 10.3390/ijms18112350
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- Article
Nrf2-Inducers Counteract Neurodegeneration in Frataxin-Silenced Motor Neurons: Disclosing New Therapeutic Targets for Friedreich's Ataxia.
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- International Journal of Molecular Sciences, 2017, v. 18, n. 10, p. 2173, doi. 10.3390/ijms18102173
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- Article
Frataxin Silencing Inactivates Mitochondrial Complex I in NSC34 Motoneuronal Cells and Alters Glutathione Homeostasis.
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- International Journal of Molecular Sciences, 2014, v. 15, n. 4, p. 5789, doi. 10.3390/ijms15045789
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- Article
Frataxin Deficiency Leads to Reduced Expression and Impaired Translocation of NF-E2-Related Factor (Nrf2) in Cultured Motor Neurons.
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- International Journal of Molecular Sciences, 2013, v. 14, n. 4, p. 7853, doi. 10.3390/ijms14047853
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- Article