Works matching AU Bertini, Enrico
Results: 328
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
Mitochondrial dysfunction in central nervous system white matter disorders.
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- Glia, 2014, v. 62, n. 11, p. 1878, doi. 10.1002/glia.22670
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- Article
Response to: Phenotypic heterogeneity of Leigh syndrome due to NDUFA12 variants is multicausal.
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- Human Mutation, 2022, v. 43, n. 1, p. 99, doi. 10.1002/humu.24303
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- Article
Clinical variability at the mild end of BRAT1‐related spectrum: Evidence from two families with genotype–phenotype discordance.
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- Human Mutation, 2022, v. 43, n. 1, p. 67, doi. 10.1002/humu.24293
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- Article
Novel NDUFA12 variants are associated with isolated complex I defect and variable clinical manifestation.
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- Human Mutation, 2021, v. 42, n. 6, p. 699, doi. 10.1002/humu.24195
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- Article
Mutations in ELAC2 associated with hypertrophic cardiomyopathy impair mitochondrial tRNA 3′‐end processing.
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- Human Mutation, 2019, v. 40, n. 10, p. 1731, doi. 10.1002/humu.23777
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- Article
Clinical, biochemical, and genetic features associated with <italic>VARS2</italic>‐related mitochondrial disease.
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- Human Mutation, 2018, v. 39, n. 4, p. 563, doi. 10.1002/humu.23398
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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
Disease Trajectories in the Revised Hammersmith Scale in a Cohort of Untreated Patients with Spinal Muscular Atrophy types 2 and 3.
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- Journal of Neuromuscular Diseases, 2024, v. 11, n. 3, p. 665, doi. 10.3233/JND-230211
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- Article
Child-to-adult transition: a survey of current practices within the European Reference Network for Rare Neurological Diseases (ERN-RND).
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- Neurological Sciences, 2024, v. 45, n. 3, p. 1007, doi. 10.1007/s10072-023-07101-3
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- Article
A case of spastic paraplegia type 11 mimicking a GM2-gangliosidosis.
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- Neurological Sciences, 2022, v. 43, n. 4, p. 2849, doi. 10.1007/s10072-021-05841-8
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Italian recommendations for diagnosis and management of congenital myasthenic syndromes.
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- 2019
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- journal 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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- 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
Myocardial and Arrhythmic Spectrum of Neuromuscular Disorders in Children.
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- Biomolecules (2218-273X), 2021, v. 11, n. 11, p. 1578, doi. 10.3390/biom11111578
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- Article
Ferroptosis in Friedreich's Ataxia: A Metal-Induced Neurodegenerative Disease.
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- Biomolecules (2218-273X), 2020, v. 10, n. 11, p. 1551, doi. 10.3390/biom10111551
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- Article
Oxidative Stress in DNA Repeat Expansion Disorders: A Focus on NRF2 Signaling Involvement.
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- Biomolecules (2218-273X), 2020, v. 10, n. 5, p. 702, doi. 10.3390/biom10050702
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- Article
Severe mitochondrial encephalomyopathy caused by de novo variants in OPA1 gene.
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- Frontiers in Genetics, 2024, p. 1, doi. 10.3389/fgene.2024.1437959
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- Article
Circadian Genes as Exploratory Biomarkers in DMD: Results From Both the mdx Mouse Model and Patients.
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- Frontiers in Physiology, 2021, v. 12, p. 1, doi. 10.3389/fphys.2021.678974
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- Article
Susceptibility of isolated myofibrils to in vitro glutathionylation: Potential relevance to muscle functions.
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- Cytoskeleton, 2010, v. 67, n. 2, p. 81, doi. 10.1002/cm.20425
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- Article
Diagnostic journey in Spinal Muscular Atrophy: Is it still an odyssey?
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- PLoS ONE, 2020, v. 15, n. 3, p. 1, doi. 10.1371/journal.pone.0230677
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- Article
Targeting ferroptosis: A novel therapeutic strategy for the treatment of mitochondrial disease-related epilepsy.
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- PLoS ONE, 2019, v. 14, n. 3, p. 1, doi. 10.1371/journal.pone.0214250
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- Article
Expanding phenotype of FAM111B‐related disease focusing on liver involvement: Literature review, report of a case with end‐stage liver disease and proposal for a new acronym.
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- American Journal of Medical Genetics. Part A, 2022, v. 188, n. 10, p. 2920, doi. 10.1002/ajmg.a.62906
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- Article
PPP1R21‐related syndromic intellectual disability: Report of an adult patient and review.
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- American Journal of Medical Genetics. Part A, 2020, v. 182, n. 12, p. 3014, doi. 10.1002/ajmg.a.61889
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- Article
Primary muscle involvement in a 15‐year‐old girl with the recurrent homozygous c.362dupC variant in FKBP14.
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- American Journal of Medical Genetics. Part A, 2019, v. 179, n. 2, p. 317, doi. 10.1002/ajmg.a.61006
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- Article
Current methodological issues in the study of children with inherited neuromuscular disorders.
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- Developmental Medicine & Child Neurology, 2008, v. 50, n. 6, p. 417, doi. 10.1111/j.1469-8749.2008.02066.x
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- Article
Gene expression profiling in the early phases of DMD: a constant molecular signature characterizes DMD muscle from early postnatal life throughout disease progression.
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- FASEB Journal, 2007, v. 21, n. 4, p. 1210, doi. 10.1096/fj.06-7285com
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- Article
HiTSEE KNIME: a visualization tool for hit selection and analysis in high-throughput screening experiments for the KNIME platform.
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- BMC Bioinformatics, 2012, v. 13, n. Supplment 8, p. 1, doi. 10.1186/1471-2105-13-S8-S4
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- Article
Whole genome sequencing diagnostic yield for paediatric patients with suspected genetic disorders: systematic review, meta-analysis, and GRADE assessment.
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- Archives of Public Health, 2023, v. 81, n. 1, p. 1, doi. 10.1186/s13690-023-01112-4
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- Article
Acute quadriplegic myopathy in a 16-month-old child.
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- Pediatric Anesthesia, 2005, v. 15, n. 7, p. 611, doi. 10.1111/j.1460-9592.2005.01491.x
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- Article
Myoclonus in mitochondrial disorders.
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- Movement Disorders, 2014, v. 29, n. 6, p. 722, doi. 10.1002/mds.25839
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- Article
Iron-related MRI images in patients with pantothenate kinase-associated neurodegeneration (PKAN) treated with deferiprone: Results of a phase II pilot trial.
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- Movement Disorders, 2011, v. 26, n. 9, p. 1755, doi. 10.1002/mds.23751
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- Article
Remission in dihydroxyphenylalanine-responsive dystonia.
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- Movement Disorders, 1995, v. 10, n. 2, p. 223, doi. 10.1002/mds.870100216
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- Article
Oral-facial-digital syndrome type VI: is C5orf42 really the major gene?
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- Human Genetics, 2015, v. 134, n. 1, p. 123, doi. 10.1007/s00439-014-1508-3
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- Article
Genomic rearrangements at theIGHMBP2gene locus in two patients with SMARD1.
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- Human Genetics, 2004, v. 115, n. 4, p. 319, doi. 10.1007/s00439-004-1156-0
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- Article
2-Year Change in Revised Hammersmith Scale Scores in a Large Cohort of Untreated Paediatric Type 2 and 3 SMA Participants.
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- Journal of Clinical Medicine, 2023, v. 12, n. 5, p. 1920, doi. 10.3390/jcm12051920
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- Article
Upper Body Physical Rehabilitation for Children with Ataxia through IMU-Based Exergame.
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- Journal of Clinical Medicine, 2022, v. 11, n. 4, p. N.PAG, doi. 10.3390/jcm11041065
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- Article
Dissecting the Role of PCDH19 in Clustering Epilepsy by Exploiting Patient-Specific Models of Neurogenesis.
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- Journal of Clinical Medicine, 2021, v. 10, n. 13, p. 2754, doi. 10.3390/jcm10132754
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- Article
Movement Disorders in Children with a Mitochondrial Disease: A Cross-Sectional Survey from the Nationwide Italian Collaborative Network of Mitochondrial Diseases.
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- Journal of Clinical Medicine, 2021, v. 10, n. 10, p. 2063, doi. 10.3390/jcm10102063
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- Article
New Insights into the Neurodegeneration Mechanisms Underlying Riboflavin Transporter Deficiency (RTD): Involvement of Energy Dysmetabolism and Cytoskeletal Derangement.
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- Biomedicines, 2022, v. 10, n. 6, p. 1329, doi. 10.3390/biomedicines10061329
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- Article
Challenges and resources in adult life with Joubert syndrome: issues from an international classification of functioning (ICF) perspective.
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- Disability & Rehabilitation, 2022, v. 44, n. 18, p. 4966, doi. 10.1080/09638288.2021.1922516
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- Article
Management of seizures in patients with primary mitochondrial diseases: consensus statement from the InterERNs Mitochondrial Working Group.
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- European Journal of Neurology, 2024, v. 31, n. 7, p. 1, doi. 10.1111/ene.16275
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- Article
An unusual case of late-infantile onset Krabbe disease with selective bilateral corticospinal tract involvement, peripheral demyelinating neuropathy, and mild phenotype.
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- Acta Neurologica Belgica, 2019, v. 119, n. 4, p. 619, doi. 10.1007/s13760-019-01087-6
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- Article
Gene therapy for Duchenne Muscular Dystrophy: assessing the readiness of Italian centres of expertise.
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- Acta Myologica, 2024, v. 43, n. 3, p. 95, doi. 10.36185/2532-1900-398
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- Article
Myotonia permanens with Nav1.4-G1306E displays varied phenotypes during course of life.
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- Acta Myologica, 2017, v. 36, n. 3, p. 125
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- Article
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
Proteomics profiling and machine learning in nusinersen-treated patients with spinal muscular atrophy.
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- Cellular & Molecular Life Sciences, 2024, v. 81, n. 1, p. 1, doi. 10.1007/s00018-024-05426-6
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- Article