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Pathogenic TNNI1 variants disrupt sarcomere contractility resulting in hypo- and hypercontractile muscle disease.
- Published in:
- Science Translational Medicine, 2024, v. 16, n. 741, p. 1, doi. 10.1126/scitranslmed.adg2841
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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: 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.
- Published in:
- 2023
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- Publication type:
- Case Study
Ischemic optic neuropathy as first presentation in patient with m.3243 A > G MELAS classic mutation.
- Published in:
- 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
NGS-Based Genetic Analysis in a Cohort of Italian Patients with Suspected Inherited Myopathies and/or HyperCKemia.
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- Genes, 2023, v. 14, n. 7, p. 1393, doi. 10.3390/genes14071393
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- Article
Proposal of a new clinical protocol for evaluating fatigability in adult SMA patients.
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- Acta Myologica, 2023, v. 42, n. 2/3, p. 65, doi. 10.36185/2532-1900-330
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- Article
Ischemic optic neuropathy as first presentation in patient with m.3243 A > G MELAS classic mutation.
- Published in:
- 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
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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- Publication type:
- Article
Givinostat for Becker muscular dystrophy: A randomized, placebo-controlled, double-blind study.
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- Frontiers in Neurology, 2023, v. 14, p. 1, doi. 10.3389/fneur.2023.1095121
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- Article
A Schematic Approach to Defining the Prevalence of COL VI Variants in Five Years of Next-Generation Sequencing.
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- International Journal of Molecular Sciences, 2022, v. 23, n. 23, p. 14567, doi. 10.3390/ijms232314567
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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
Genetic modifiers of upper limb function in Duchenne muscular dystrophy.
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- Journal of Neurology, 2022, v. 269, n. 9, p. 4884, doi. 10.1007/s00415-022-11133-8
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- Publication type:
- Article
Age, corticosteroid treatment and site of mutations affect motor functional changes in young boys with Duchenne Muscular Dystrophy.
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- PLoS ONE, 2022, v. 17, n. 7, p. 1, doi. 10.1371/journal.pone.0271681
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- 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
Newly Diagnosed Hepatic Encephalopathy Presenting as Non-convulsive Status Epilepticus: A Case Report and Literature Review.
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- 2022
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- Publication type:
- Case Study
Expanding the clinical-pathological and genetic spectrum of RYR1-related congenital myopathies with cores and minicores: an Italian population study.
- Published in:
- Acta Neuropathologica Communications, 2022, v. 10, n. 1, p. 1, doi. 10.1186/s40478-022-01357-0
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- Article
Muscle histological changes in a large cohort of patients affected with Becker muscular dystrophy.
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- Acta Neuropathologica Communications, 2022, v. 10, n. 1, p. 1, doi. 10.1186/s40478-022-01354-3
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- Article
Cutaneous reactions to bedbug bites.
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- International Journal of Dermatology, 2022, v. 61, n. 2, p. e58, doi. 10.1111/ijd.15622
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- Article
New‐onset cutaneous kaposi's sarcoma following SARS‐CoV‐2 infection.
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- 2021
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- Publication type:
- Case Study
Recurrence of alopecia areata after covid‐19 vaccination: A report of three cases in Italy.
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- Journal of Cosmetic Dermatology, 2021, v. 20, n. 12, p. 3753, doi. 10.1111/jocd.14581
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- Publication type:
- 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
Frontal Fibrosing Alopecia: A New Association with Lichen Sclerosus in Men.
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- 2021
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- Publication type:
- journal article
Missense mutations in small muscle protein X-linked (SMPX) cause distal myopathy with protein inclusions.
- Published in:
- Acta Neuropathologica, 2021, v. 142, n. 2, p. 375, doi. 10.1007/s00401-021-02319-x
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- Article
Bullous dermatosis on the hands following SARS‐CoV‐2 infection.
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- International Journal of Dermatology, 2021, v. 60, n. 8, p. 1042, doi. 10.1111/ijd.15746
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- Article
Local skin reaction to the AZD1222 vaccine in a patient who survived COVID‐19.
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- Journal of Cosmetic Dermatology, 2021, v. 20, n. 7, p. 1965, doi. 10.1111/jocd.14205
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- Article
New onset of alopecia areata in a patient with SARS‐CoV‐2 infection: Possible pathogenetic correlations?
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- Journal of Cosmetic Dermatology, 2021, v. 20, n. 7, p. 2004, doi. 10.1111/jocd.14080
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- Article
Early Findings in Neonatal Cases of RYR1 –Related Congenital Myopathies.
- Published in:
- Frontiers in Neurology, 2021, v. 12, p. 1, doi. 10.3389/fneur.2021.664618
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- Article
North Star Ambulatory Assessment changes in ambulant Duchenne boys amenable to skip exons 44, 45, 51, and 53: A 3 year follow up.
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- PLoS ONE, 2021, v. 16, n. 6, p. 1, doi. 10.1371/journal.pone.0253882
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- Article
Concomitant segmental vitiligo and segmental morphea in an 8-year-old boy.
- Published in:
- 2021
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- Publication type:
- Case Study
Diagnostic and prognostic value of CSF neurofilaments in a cohort of patients with motor neuron disease: A cross‐sectional study.
- Published in:
- Journal of Cellular & Molecular Medicine, 2021, v. 25, n. 8, p. 3765, doi. 10.1111/jcmm.16240
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- Article
Alopecia areata treated with topical and systemic brevilin A: A case series.
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- Dermatologic Therapy, 2021, v. 34, n. 2, p. 1, doi. 10.1111/dth.14778
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- Article
A new treatment of alopecia induced by palbociclib: Topical cetirizine.
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- Journal of Oncology Pharmacy Practice, 2021, v. 27, p. 460, doi. 10.1177/1078155220930334
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- Article
Frontal fibrosing alopecia and genital Lichen sclerosus: Single‐center experience.
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- Journal of Cosmetic Dermatology, 2021, v. 20, n. 2, p. 615, doi. 10.1111/jocd.13573
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- Publication type:
- Article
Vitiligo with Progressive Repigmentation during Secukinumab Treatment in a Patient with Psoriatic Arthritis: A Case Report.
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- Case Reports in Dermatology, 2021, v. 13, n. 1, p. 209, doi. 10.1159/000510831
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- Publication type:
- Article
Bullous dermatitis caused by common juniper.
- Published in:
- Contact Dermatitis (01051873), 2020, v. 83, n. 6, p. 529, doi. 10.1111/cod.13674
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- Article
Eosinophilic folliculitis of the scalp associated with PD‐1/PDL1 inhibitors.
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- Journal of Cosmetic Dermatology, 2020, v. 19, n. 12, p. 3367, doi. 10.1111/jocd.13388
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- Publication type:
- Article
Necrotic acral lesions and lung failure in a fatal case of COVID‐19.
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- Australasian Journal of Dermatology, 2020, v. 61, n. 4, p. e467, doi. 10.1111/ajd.13400
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- Article
Noncoding RNAs in Duchenne and Becker muscular dystrophies: role in pathogenesis and future prognostic and therapeutic perspectives.
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- Cellular & Molecular Life Sciences, 2020, v. 77, n. 21, p. 4299, doi. 10.1007/s00018-020-03537-4
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- Article
Alopecia areata treated with dimethyl fumarate: A case series.
- Published in:
- Dermatologic Therapy, 2020, v. 33, n. 6, p. 1, doi. 10.1111/dth.14158
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- Article
A peculiar adverse reaction to blue pigment tattoo.
- Published in:
- Journal of Cosmetic Dermatology, 2020, v. 19, n. 9, p. 2401, doi. 10.1111/jocd.13494
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- Publication type:
- Article
Reed syndrome: A case report and dermatoscopic features.
- Published in:
- Journal of Cosmetic Dermatology, 2020, v. 19, n. 8, p. 2144, doi. 10.1111/jocd.13268
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- Publication type:
- Article
Limb girdle muscular dystrophy due to LAMA2 gene mutations: new mutations expand the clinical spectrum of a still challenging diagnosis.
- Published in:
- Acta Myologica, 2020, v. 39, n. 2, p. 67, doi. 10.36185-2532-1900-009
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- Publication type:
- Article
Genetic modifiers of respiratory function in Duchenne muscular dystrophy.
- Published in:
- Annals of Clinical & Translational Neurology, 2020, v. 7, n. 5, p. 786, doi. 10.1002/acn3.51046
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- Publication type:
- Article