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Erratum to: De novo exonic duplication of ATP1A2 in Italian patient with hemiplegic migraine: a case report.
- Published in:
- Journal of Headache & Pain, 2017, v. 18, n. 1, p. 1, doi. 10.1186/s10194-017-0771-9
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- Article
De novo exonic duplication of ATP1A2 in Italian patient with hemiplegic migraine: a case report.
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- Journal of Headache & Pain, 2017, v. 18, n. 1, p. 1, doi. 10.1186/s10194-017-0770-x
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- Article
Cationic PMMA Nanoparticles Bind and Deliver Antisense Oligoribonucleotides Allowing Restoration of Dystrophin Expression in the mdx Mouse.
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- Molecular Therapy, 2009, v. 17, n. 5, p. 820, doi. 10.1038/mt.2009.8
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- Article
Improving diagnosis for rare diseases: the experience of the Italian undiagnosed Rare diseases network.
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- Italian Journal of Pediatrics, 2020, v. 46, n. 1, p. N.PAG, doi. 10.1186/s13052-020-00883-8
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- Article
Beyond canvas: behavioral onset of rfc1-expansion disease in an Italian family—causal or casual?
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- Neurological Sciences, 2022, v. 43, n. 8, p. 5095, doi. 10.1007/s10072-022-06137-1
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- Article
Whole-exome sequencing in patients with protein aggregate myopathies reveals causative mutations associated with novel atypical phenotypes.
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- Neurological Sciences, 2021, v. 42, n. 7, p. 2819, doi. 10.1007/s10072-020-04876-7
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- Article
The DMD Locus Harbours Multiple Long Non-Coding RNAs Which Orchestrate and Control Transcription of Muscle Dystrophin mRNA Isoforms.
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- PLoS ONE, 2012, v. 7, n. 9, p. 1, doi. 10.1371/journal.pone.0045328
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- Article
Digital health and Clinical Patient Management System (CPMS) platform utility for data sharing of neuromuscular patients: the Italian EURO-NMD experience.
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- Orphanet Journal of Rare Diseases, 2023, v. 18, n. 1, p. 1, doi. 10.1186/s13023-023-02776-5
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- Article
AFG3L2 Biallelic Mutation: Clinical Heterogeneity in Two Italian Patients.
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- Cerebellum, 2023, v. 22, n. 6, p. 1313, doi. 10.1007/s12311-022-01497-y
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- Article
LAMM syndrome with middle ear dysplasia associated with compound heterozygosity for FGF3 mutations.
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- American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 5, p. 1096, doi. 10.1002/ajmg.a.33962
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- Article
Custom CGH array profiling of copy number variations (CNVs) on chromosome 6p21.32 (HLA locus) in patients with venous malformations associated with multiple sclerosis.
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- BMC Medical Genetics, 2010, v. 11, p. 64, doi. 10.1186/1471-2350-11-64
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- Article
Identification of a deep intronic mutation in the COL6A2 gene by a novel custom oligonucleotide CGH array designed to explore allelic and genetic heterogeneity in collagen VI-related myopathies.
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- BMC Medical Genetics, 2010, v. 11, p. 44, doi. 10.1186/1471-2350-11-44
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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
The Genetic Landscape of Dystrophin Mutations in Italy: A Nationwide Study.
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- Frontiers in Genetics, 2020, p. 1, doi. 10.3389/fgene.2020.00131
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- Article
Corrigendum: Translation from a DMD exon 5 IRES results in a functional dystrophin isoform that attenuates dystrophinopathy in humans and mice.
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- Nature Medicine, 2015, v. 21, n. 5, p. 537, doi. 10.1038/nm0515-537c
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- Article
Recessive mutations in MSTO1 cause mitochondrial dynamics impairment, leading to myopathy and ataxia.
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- Human Mutation, 2017, v. 38, n. 8, p. 970, doi. 10.1002/humu.23262
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- Article
Molecular Analysis, Pathogenic Mechanisms, and Readthrough Therapy on a Large Cohort of Kabuki Syndrome Patients.
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- Human Mutation, 2014, v. 35, n. 7, p. 841, doi. 10.1002/humu.22547
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- Article
Homozygous Recessive Versican Missense Variation Is Associated With Early Teeth Loss in a Pakistani Family.
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- Frontiers in Genetics, 2019, p. N.PAG, doi. 10.3389/fgene.2018.00723
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- Article