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Association between ZASP/LDB3 Pro26Ser and Inclusion Body Myopathy.
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- International Journal of Molecular Sciences, 2024, v. 25, n. 12, p. 6547, doi. 10.3390/ijms25126547
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- Article
Early spinal muscular atrophy treatment following newborn screening: A 20‐month review of the first Italian regional experience.
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- Annals of Clinical & Translational Neurology, 2024, v. 11, n. 5, p. 1090, doi. 10.1002/acn3.52018
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- Article
Charcot–Marie‐Tooth type 2A in vivo models: Current updates.
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- Journal of Cellular & Molecular Medicine, 2024, v. 28, n. 9, p. 1, doi. 10.1111/jcmm.18293
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- Article
Cognitive abnormalities in Becker muscular dystrophy: a mysterious link between dystrophin deficiency and executive functions.
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- Neurological Sciences, 2024, v. 45, n. 4, p. 1691, doi. 10.1007/s10072-023-07169-x
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- Article
Case report: A novel ACTA1 variant in a patient with nemaline rods and increased glycogen deposition.
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- Frontiers in Neurology, 2024, p. 1, doi. 10.3389/fneur.2024.1340693
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- Article
Case report: Dihydropyridine receptor (CACNA1S) congenital myopathy, a novel phenotype with early onset periodic paralysis.
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- Frontiers in Neurology, 2024, p. 1, doi. 10.3389/fneur.2024.1359479
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- Article
Case report: A novel patient presenting TRIM32-related limb-girdle muscular dystrophy.
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- Frontiers in Neurology, 2024, p. 01, doi. 10.3389/fneur.2023.1281953
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- Article
The Profiling of 179 miRNA Expression in Serum from Limb Girdle Muscular Dystrophy Patients and Healthy Controls.
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- International Journal of Molecular Sciences, 2023, v. 24, n. 24, p. 17402, doi. 10.3390/ijms242417402
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- Article
Prominent muscle involvement in a familial form of mitochondrial disease due to a COA8 variant.
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- 2023
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- Publication type:
- Case Study
Lafora Disease: A Case Report and Evolving Treatment Advancements.
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- Brain Sciences (2076-3425), 2023, v. 13, n. 12, p. 1679, doi. 10.3390/brainsci13121679
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- Article
Harmonizing Genetic Testing for Parkinson's Disease: Results of the PARKNET Multicentric Study.
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- Movement Disorders, 2023, v. 38, n. 12, p. 2241, doi. 10.1002/mds.29617
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- Article
Ischemic optic neuropathy as first presentation in patient with m.3243 A > G MELAS classic mutation.
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- BMC Neurology, 2023, v. 23, n. 1, p. 1, doi. 10.1186/s12883-023-03198-3
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- Article
Multi-omics profiling of CSF from spinal muscular atrophy type 3 patients after nusinersen treatment: a 2-year follow-up multicenter retrospective study.
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- Cellular & Molecular Life Sciences, 2023, v. 80, n. 8, p. 1, doi. 10.1007/s00018-023-04885-7
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- Article
Case report: Clinical and molecular characterization of two siblings affected by Brody myopathy.
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- Frontiers in Neurology, 2023, p. 1, doi. 10.3389/fneur.2023.1170071
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- Article
Clinical and molecular features of patients with amyotrophic lateral sclerosis and SOD1 mutations: a monocentric study.
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- Frontiers in Neurology, 2023, p. 01, doi. 10.3389/fneur.2023.1169689
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- Article
Verbal Learning Impairment in Parkinson's Disease: Role of the Frontostriatal System in Working and Strategic Memory.
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- Neurodegenerative Diseases, 2023, v. 23, n. 1/2, p. 20, doi. 10.1159/000534307
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- Article
Ischemic optic neuropathy as first presentation in patient with m.3243 A > G MELAS classic mutation.
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- BMC Neurology, 2023, v. 23, n. 1, p. 1, doi. 10.1186/s12883-023-03198-3
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- Publication type:
- Article
Extracellular Matrix Disorganization and Sarcolemmal Alterations in COL6-Related Myopathy Patients with New Variants of COL6 Genes.
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- International Journal of Molecular Sciences, 2023, v. 24, n. 6, p. 5551, doi. 10.3390/ijms24065551
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- Article
NOTCH2NLC GGC repeats are not expanded in Italian amyotrophic lateral sclerosis patients.
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- Scientific Reports, 2023, v. 13, n. 1, p. 1, doi. 10.1038/s41598-023-30393-6
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- Article
Using Cluster Analysis to Overcome the Limits of Traditional Phenotype–Genotype Correlations: The Example of RYR1 -Related Myopathies.
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- Genes, 2023, v. 14, n. 2, p. 298, doi. 10.3390/genes14020298
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- Article
MERRF Mutation A8344G in a Four-Generation Family without Central Nervous System Involvement: Clinical and Molecular Characterization.
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- 2023
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- Publication type:
- Case Study
Analysis of HTT CAG repeat expansion in Italian patients with amyotrophic lateral sclerosis.
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- Annals of Clinical & Translational Neurology, 2022, v. 9, n. 11, p. 1820, doi. 10.1002/acn3.51673
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- Article
Megaconial congenital muscular dystrophy due to novel CHKB variants: a case report and literature review.
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- Skeletal Muscle, 2022, v. 12, n. 1, p. 1, doi. 10.1186/s13395-022-00306-8
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- Article
Antisense Morpholino-Based In Vitro Correction of a Pseudoexon-Generating Variant in the SGCB Gene.
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- International Journal of Molecular Sciences, 2022, v. 23, n. 17, p. 9817, doi. 10.3390/ijms23179817
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- Article
MicroRNAs as serum biomarkers in Becker muscular dystrophy.
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- Journal of Cellular & Molecular Medicine, 2022, v. 26, n. 17, p. 4678, doi. 10.1111/jcmm.17462
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- Article
TWNK in Parkinson's Disease: A Movement Disorder and Mitochondrial Disease Center Perspective Study.
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- 2022
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- Publication type:
- journal article
Case report: Sodium and chloride muscle channelopathy coexistence: A complicated phenotype and a challenging diagnosis.
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- Frontiers in Neurology, 2022, v. 13, p. 1, doi. 10.3389/fneur.2022.845383
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- Article
Natural history of Type 1 spinal muscular atrophy: a retrospective, global, multicenter study.
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- 2022
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- Publication type:
- journal article
Case Reports: Novel Missense Variants in the Filamin C Actin Binding Domain Cause Variable Phenotypes.
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- Frontiers in Neurology, 2022, v. 13, p. 1, doi. 10.3389/fneur.2022.930039
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- Article
Inhibition of myostatin and related signaling pathways for the treatment of muscle atrophy in motor neuron diseases.
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- Cellular & Molecular Life Sciences, 2022, v. 79, n. 7, p. 1, doi. 10.1007/s00018-022-04408-w
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- Publication type:
- Article
Immunofluorescence signal intensity measurements as a semi-quantitative tool to assess sarcoglycan complex expression in muscle biopsy.
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- European Journal of Histochemistry, 2022, v. 66, n. 3, p. 1, doi. 10.4081/ejh.2022.3418
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- Article
Case Report: Rare Homozygous RNASEH1 Mutations Associated With Adult-Onset Mitochondrial Encephalomyopathy and Multiple Mitochondrial DNA Deletions.
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- Frontiers in Genetics, 2022, p. 1, doi. 10.3389/fgene.2022.906667
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- Article
Clinical and genetic features of a cohort of patients with MFN2-related neuropathy.
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- Scientific Reports, 2022, v. 12, n. 1, p. 1, doi. 10.1038/s41598-022-10220-0
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- Article
Clinical and genetic features of a cohort of patients with MFN2-related neuropathy.
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- Scientific Reports, 2022, v. 12, n. 1, p. 1, doi. 10.1038/s41598-022-10220-0
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- Publication type:
- Article
Biallelic Variants in ENDOG Associated with Mitochondrial Myopathy and Multiple mtDNA Deletions.
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- Cells (2073-4409), 2022, v. 11, n. 6, p. 974, doi. 10.3390/cells11060974
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- Article
Stathmins and Motor Neuron Diseases: Pathophysiology and Therapeutic Targets.
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- Biomedicines, 2022, v. 10, n. 3, p. 711, doi. 10.3390/biomedicines10030711
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- Article
Insights into the identification of a molecular signature for amyotrophic lateral sclerosis exploiting integrated microRNA profiling of iPSC-derived motor neurons and exosomes.
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- Cellular & Molecular Life Sciences, 2022, v. 79, n. 3, p. 1, doi. 10.1007/s00018-022-04217-1
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- Article
Case Report: Thymidine Kinase 2 (TK2) Deficiency: A Novel Mutation Associated With Childhood-Onset Mitochondrial Myopathy and Atypical Progression.
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- Frontiers in Neurology, 2022, v. 13, p. 1, doi. 10.3389/fneur.2022.857279
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- Publication type:
- Article
Targeting PTB for Glia-to-Neuron Reprogramming In Vitro and In Vivo for Therapeutic Development in Neurological Diseases.
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- Biomedicines, 2022, v. 10, n. 2, p. 399, doi. 10.3390/biomedicines10020399
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- Article
Adeno-Associated Virus (AAV)-Mediated Gene Therapy for Duchenne Muscular Dystrophy: The Issue of Transgene Persistence.
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- Frontiers in Neurology, 2022, v. 13, p. 1, doi. 10.3389/fneur.2021.814174
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- Article
Clinical, neuroradiological and genetic findings in a cohort of patients with multiple Cerebral Cavernous Malformations.
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- Metabolic Brain Disease, 2021, v. 36, n. 7, p. 1871, doi. 10.1007/s11011-021-00809-1
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- Article
Impact of COVID‐19 on the quality of life of patients with neuromuscular disorders in the Lombardy area, Italy.
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- Muscle & Nerve, 2021, v. 64, n. 4, p. 474, doi. 10.1002/mus.27378
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- Article
Sodium Levels Predict Disability at Discharge in Guillain-Barré Syndrome: A Retrospective Cohort Study.
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- Frontiers in Neurology, 2021, v. 12, p. 1, doi. 10.3389/fneur.2021.729252
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- Publication type:
- Article
Perspectives on hiPSC-Derived Muscle Cells as Drug Discovery Models for Muscular Dystrophies.
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- International Journal of Molecular Sciences, 2021, v. 22, n. 17, p. 9630, doi. 10.3390/ijms22179630
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- Article
Charcot–Marie–Tooth disease type 2F associated with biallelic HSPB1 mutations.
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- Annals of Clinical & Translational Neurology, 2021, v. 8, n. 5, p. 1158, doi. 10.1002/acn3.51364
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- Publication type:
- Article
Management of patients with neuromuscular disorders at the time of the SARS-CoV-2 pandemic.
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- Journal of Neurology, 2021, v. 268, n. 5, p. 1580, doi. 10.1007/s00415-020-10149-2
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- Article
Diagnostic and prognostic value of CSF neurofilaments in a cohort of patients with motor neuron disease: A cross‐sectional study.
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- Journal of Cellular & Molecular Medicine, 2021, v. 25, n. 8, p. 3765, doi. 10.1111/jcmm.16240
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- Publication type:
- Article
Expanding the genotypic and phenotypic spectrum of Beta‐propeller potein‐associated neurodegeneration.
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- European Journal of Neurology, 2021, v. 28, n. 3, p. e25, doi. 10.1111/ene.14679
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- Publication type:
- Article
Advancing Drug Discovery for Neurological Disorders Using iPSC-Derived Neural Organoids.
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- International Journal of Molecular Sciences, 2021, v. 22, n. 5, p. 2659, doi. 10.3390/ijms22052659
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- Article
Extracellular vesicles and amyotrophic lateral sclerosis: from misfolded protein vehicles to promising clinical biomarkers.
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- Cellular & Molecular Life Sciences, 2021, v. 78, n. 2, p. 561, doi. 10.1007/s00018-020-03619-3
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- Article