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Two Cases of Myofibrillar Myopathies: Genetic and Quality of Life Study.
- Published in:
- Muscles (2813-0413), 2023, v. 2, n. 2, p. 177, doi. 10.3390/muscles2020013
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- Publication type:
- Article
Genetic heterogeneity of FG syndrome: a fourth locus (FGS4) maps to Xp11.4-p11.3 in an Italian family.
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- Human Genetics, 2003, v. 112, n. 2, p. 124, doi. 10.1007/s00439-002-0863-7
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- Publication type:
- Article
Analysis of 22 deletion breakpoints in dystrophin intron 49.
- Published in:
- Human Genetics, 2002, v. 110, n. 5, p. 418, doi. 10.1007/s00439-002-0721-7
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- Publication type:
- Article
Transcriptional control by estradiol receptor.
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- Journal of Molecular Recognition, 1995, v. 8, n. 1/2, p. 162, doi. 10.1002/jmr.300080130
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- Publication type:
- Article
Whole exome sequencing identifies MRVI1 as a susceptibility gene for moyamoya syndrome in neurofibromatosis type 1.
- Published in:
- PLoS ONE, 2018, v. 13, n. 7, p. 1, doi. 10.1371/journal.pone.0200446
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- Publication type:
- Article
An Improved Polymerase Chain Reaction (PCR) Protocol for Unambigous Detection of Growth Hormone Gene Deletions.
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- Journal of Pediatric Endocrinology & Metabolism, 1998, v. 11, n. 4, p. 563
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- Publication type:
- Article
A rare co-occurrence of phosphorylase kinase deficiency (GSD type IXd) and alpha-glycosidase deficiency (GSD Type II) in a 53-year-old man presenting with an atypical glycogen storage disease phenotype.
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- Acta Myologica, 2024, v. 43, n. 1, p. 21, doi. 10.36185/2532-1900-411
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- Article
Year 2023: a new look for Acta Myologica.
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- Acta Myologica, 2023, v. 42, n. 1, p. 1
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- Publication type:
- Article
Xp21 contiguous gene deletion syndrome presenting as Duchenne muscular dystrophy and glycerol kinase deficiency associated with intellectual disability: case report and review literature.
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- Acta Myologica, 2023, v. 42, n. 1, p. 24, doi. 10.36185/2532-1900-246
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- Publication type:
- Article
Autosomal dominant Ullrich congenital muscular dystrophy due to a de novo mutation in COL6A3 gene. A case report.
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- Acta Myologica, 2022, v. 41, n. 2, p. 95, doi. 10.36185/2532-1900-073
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- Publication type:
- Article
BAG3-related myofibrillar myopathy: a further observation with cardiomyopathy at onset in pediatric age.
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- Acta Myologica, 2021, v. 40, n. 4, p. 177, doi. 10.36185/2532-1900-061
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- Article
Cardiac diseases as a predictor warning of hereditary muscle diseases. The case of laminopathies.
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- Acta Myologica, 2019, v. 38, n. 2, p. 33
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- Publication type:
- Article
Therapeutic approach with Ataluren in Duchenne symptomatic carriers with nonsense mutations in dystrophin gene. Results of a 9-month follow-up in a case report.
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- Acta Myologica, 2018, v. 37, n. 4, p. 272
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- Publication type:
- Article
Professor Giovanni Nigro (1931-2017).
- Published in:
- Acta Myologica, 2017, v. 36, n. 4, p. 223
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- Publication type:
- Article
Acta Myologica Online.
- Published in:
- Acta Myologica, 2016, v. 35, n. 1, p. 1
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- Article
Novel mutations in LMNA A/C gene and associated phenotypes.
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- Acta Myologica, 2015, v. 34, n. 2/3, p. 116
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- Article
Exclusion of Identified LGMD1 Loci from Four Dominant Limb-Girdle Muscular Dystrophy Families.
- Published in:
- Human Heredity, 1998, v. 48, n. 4, p. 179, doi. 10.1159/000022799
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- Article
A Rare Case of Severe Congenital RYR1-Associated Myopathy.
- Published in:
- Case Reports in Genetics, 2018, p. 1, doi. 10.1155/2018/6184185
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- Publication type:
- Article
A defect in the RNA-processing protein HNRPDL causes limb-girdle muscular dystrophy 1G (LGMD1G).
- Published in:
- Human Molecular Genetics, 2014, v. 23, n. 15, p. 4103, doi. 10.1093/hmg/ddu127
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- Publication type:
- Article
Combined deficiency of alpha and epsilon sarcoglycan disrupts the cardiac dystrophin complex.
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- Human Molecular Genetics, 2011, v. 20, n. 23, p. 4644, doi. 10.1093/hmg/ddr398
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- Publication type:
- Article
Arg<sup>1809</sup> substitution in neurofibromin: further evidence of a genotype-phenotype correlation in neurofibromatosis type 1.
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- European Journal of Human Genetics, 2015, v. 23, n. 11, p. 1460, doi. 10.1038/ejhg.2015.93
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- Publication type:
- Article
An extremely severe phenotype attributed to WDR81 nonsense mutations.
- Published in:
- 2017
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- Publication type:
- letter
Alu-Mediated Insertions in the DMD Gene: A Difficult Puzzle to Interpret Clinically.
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- International Journal of Molecular Sciences, 2023, v. 24, n. 11, p. 9241, doi. 10.3390/ijms24119241
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- Publication type:
- Article
Clinical, Genetic, and Histological Characterization of Patients with Rare Neuromuscular and Mitochondrial Diseases Presenting with Different Cardiomyopathy Phenotypes.
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- International Journal of Molecular Sciences, 2023, v. 24, n. 10, p. 9108, doi. 10.3390/ijms24109108
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- Publication type:
- Article
Extracellular Matrix Disorganization and Sarcolemmal Alterations in COL6-Related Myopathy Patients with New Variants of COL6 Genes.
- Published in:
- International Journal of Molecular Sciences, 2023, v. 24, n. 6, p. 5551, doi. 10.3390/ijms24065551
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- Publication type:
- Article
Alpha-Thalassemia in Southern Italy: Characterization of Five New Deletions Removing the Alpha-Globin Gene Cluster.
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- International Journal of Molecular Sciences, 2023, v. 24, n. 3, p. 2577, doi. 10.3390/ijms24032577
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- Publication type:
- Article
Bi-Allelic DES Gene Variants Causing Autosomal Recessive Myofibrillar Myopathies Affecting Both Skeletal Muscles and Cardiac Function.
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- International Journal of Molecular Sciences, 2022, v. 23, n. 24, p. 15906, doi. 10.3390/ijms232415906
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- Publication type:
- Article
Nemaline Myopathy in Brazilian Patients: Molecular and Clinical Characterization.
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- International Journal of Molecular Sciences, 2022, v. 23, n. 19, p. 11995, doi. 10.3390/ijms231911995
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- Publication type:
- Article
Mystery(n) Phenotypic Presentation in Europeans: Report of Three Further Novel Missense RNF213 Variants Leading to Severe Syndromic Forms of Moyamoya Angiopathy and Literature Review.
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- International Journal of Molecular Sciences, 2022, v. 23, n. 16, p. 8952, doi. 10.3390/ijms23168952
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- Publication type:
- Article
A novel RAB39B mutation and concurrent de novo NF1 mutation in a boy with neurofibromatosis type 1, intellectual disability, and autism: a case report.
- Published in:
- 2020
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- Publication type:
- journal article
Myoimaging in the NGS era: the discovery of a novel mutation in MYH7 in a family with distal myopathy and core-like features - a case report.
- Published in:
- 2016
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- Publication type:
- Case Study
Sinus pericranii, skull defects, and structural brain anomalies in TRAF7‐related disorder.
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- Birth Defects Research, 2020, v. 112, n. 14, p. 1085, doi. 10.1002/bdr2.1711
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- Publication type:
- Article
Parkinsonism, Intellectual Disability, and Catatonia in a Young Male With MECP2 Variant.
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- Movement Disorders Clinical Practice, 2020, v. 7, n. 1, p. 118, doi. 10.1002/mdc3.12865
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- Publication type:
- Article
MotorPlex provides accurate variant detection across large muscle genes both in single myopathic patients and in pools of DNA samples.
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- Acta Neuropathologica Communications, 2014, v. 2, n. 1, p. 1, doi. 10.1186/s40478-014-0100-3
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- Publication type:
- Article
A Novel Homozygous Loss-of-Function Variant in SPRED2 Causes Autosomal Recessive Noonan-like Syndrome.
- Published in:
- Genes, 2024, v. 15, n. 1, p. 32, doi. 10.3390/genes15010032
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- Publication type:
- Article
A Novel Homozygous GPAA1 Variant in a Patient with a Glycosylphosphatidylinositol Biosynthesis Defect.
- Published in:
- Genes, 2023, v. 14, n. 7, p. 1444, doi. 10.3390/genes14071444
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- Publication type:
- Article
Next-Generation Sequencing (NGS) Analysis Illustrates the Phenotypic Variability of Collagen Type IV Nephropathies.
- Published in:
- Genes, 2023, v. 14, n. 3, p. 764, doi. 10.3390/genes14030764
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- Publication type:
- Article
Spectrum of Genetic Variants in the Dystrophin Gene: A Single Centre Retrospective Analysis of 750 Duchenne and Becker Patients from Southern Italy.
- Published in:
- Genes, 2023, v. 14, n. 1, p. 214, doi. 10.3390/genes14010214
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- Publication type:
- Article
Expanding Phenotype of Poirier–Bienvenu Syndrome: New Evidence from an Italian Multicentrical Cohort of Patients.
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- Genes, 2022, v. 13, n. 2, p. 276, doi. 10.3390/genes13020276
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- Publication type:
- Article
The Role of TRPM4 Gene Mutations in Causing Familial Progressive Cardiac Conduction Disease: A Further Contribution.
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- 2022
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- Publication type:
- Case Study
VarGenius-HZD Allows Accurate Detection of Rare Homozygous or Hemizygous Deletions in Targeted Sequencing Leveraging Breadth of Coverage.
- Published in:
- Genes, 2021, v. 12, n. 12, p. 1979, doi. 10.3390/genes12121979
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- Publication type:
- Article
Linked-Read Whole Genome Sequencing Solves a Double DMD Gene Rearrangement.
- Published in:
- Genes, 2021, v. 12, n. 2, p. 133, doi. 10.3390/genes12020133
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- Publication type:
- Article
Clinical and Genetic Findings in Children with Neurofibromatosis Type 1, Legius Syndrome, and Other Related Neurocutaneous Disorders.
- Published in:
- Genes, 2019, v. 10, n. 8, p. 580, doi. 10.3390/genes10080580
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- Publication type:
- Article
Cardiomyopathy in patients with POMT1-related congenital and limb-girdle muscular dystrophy.
- Published in:
- European Journal of Human Genetics, 2012, v. 20, n. 12, p. 1234, doi. 10.1038/ejhg.2012.71
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- Publication type:
- Article
Muscular dystrophy with marked Dysferlin deficiency is consistently caused by primary dysferlin gene mutations.
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- European Journal of Human Genetics, 2011, v. 19, n. 9, p. 974, doi. 10.1038/ejhg.2011.70
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- Publication type:
- Article
Asymptomatic carriers for homozygous novel mutations in the FKRP gene: the other end of the spectrum.
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- European Journal of Human Genetics, 2003, v. 11, n. 12, p. 923, doi. 10.1038/sj.ejhg.5201066
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- Publication type:
- Article
Clinical variability in calpainopathy: What makes the difference?
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- European Journal of Human Genetics, 2002, v. 10, n. 12, p. 825, doi. 10.1038/sj.ejhg.5200888
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- Publication type:
- Article
Evaluation of the cardiomyopathy in Becker muscular dystrophy.
- Published in:
- 1995
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- Publication type:
- journal article
A Clinical-Based Diagnostic Approach to Cerebellar Atrophy in Children.
- Published in:
- Applied Sciences (2076-3417), 2021, v. 11, n. 5, p. 2333, doi. 10.3390/app11052333
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- Publication type:
- Article
Myopalladin promotes muscle growth through modulation of the serum response factor pathway.
- Published in:
- Journal of Cachexia, Sarcopenia & Muscle, 2020, v. 11, n. 1, p. 169, doi. 10.1002/jcsm.12486
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- Publication type:
- Article