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Three years pilot of spinal muscular atrophy newborn screening turned into official program in Southern Belgium.
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- Scientific Reports, 2021, v. 11, n. 1, p. 1, doi. 10.1038/s41598-021-99496-2
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- Article
Neuroprotective Effect of Non-viral Gene Therapy Treatment Based on Tetanus Toxin C-fragment in a Severe Mouse Model of Spinal Muscular Atrophy.
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- Frontiers in Molecular Neuroscience, 2016, p. 1, doi. 10.3389/fnmol.2016.00076
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- Article
Beyond the disease itself: A cross‐cutting educational initiative for patients and families with rare diseases.
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- Journal of Genetic Counseling, 2021, v. 30, n. 3, p. 693, doi. 10.1002/jgc4.1354
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- Article
High Mutational Heterogeneity, and New Mutations in the Human Coagulation Factor V Gene. Future Perspectives for Factor V Deficiency Using Recombinant and Advanced Therapies.
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- International Journal of Molecular Sciences, 2021, v. 22, n. 18, p. 9705, doi. 10.3390/ijms22189705
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- Article
The Importance of Digging into the Genetics of SMN Genes in the Therapeutic Scenario of Spinal Muscular Atrophy.
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- International Journal of Molecular Sciences, 2021, v. 22, n. 16, p. 9029, doi. 10.3390/ijms22169029
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- Article
Identification of 22q11.2 deletion syndrome via newborn screening for severe combined immunodeficiency. Two years' experience in Catalonia (Spain).
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- Molecular Genetics & Genomic Medicine, 2019, v. 7, n. 12, p. N.PAG, doi. 10.1002/mgg3.1016
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- Article
Vein of Galen aneurysm, dilated cardiomyopathy, and slender habitus in a patient with a recurrent pathogenic variant in PACS2.
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- American Journal of Medical Genetics. Part A, 2022, v. 188, n. 3, p. 991, doi. 10.1002/ajmg.a.62596
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- Article
Expanding the phenotype of cerebellar‐facial‐dental syndrome: Two siblings with a novel variant in BRF1.
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- American Journal of Medical Genetics. Part A, 2020, v. 182, n. 11, p. 2742, doi. 10.1002/ajmg.a.61839
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- Article
Synaptic defects in type I spinal muscular atrophy in human development Synaptic defects in type I spinal muscular atrophy in human development†.
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- Journal of Pathology, 2013, v. 229, n. 1, p. 49, doi. 10.1002/path.4080
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- Article
A De Novo Nonsense Mutation in MAGEL2 in a Patient Initially Diagnosed as Opitz-C: Similarities Between Schaaf-Yang and Opitz-C Syndromes.
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- Scientific Reports, 2017, p. 44138, doi. 10.1038/srep44138
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- Article
Social/economic costs and health-related quality of life in patients with spinal muscular atrophy (SMA) in Spain.
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- 2017
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- journal article
Sarcomeric disorganization and nemaline bodies in muscle biopsies of patients with EXOSC3-related type 1 pontocerebellar hypoplasia.
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- 2019
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- Publication type:
- journal article
Mutation update of spinal muscular atrophy in Spain: molecular characterization of 745 unrelated patients and identification of four novel mutations in the SMN1 gene.
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- Human Genetics, 2009, v. 125, n. 1, p. 29, doi. 10.1007/s00439-008-0598-1
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- Article
Characterisation of SMN hybrid genes in Spanish SMA patients: de novo, homozygous and compound heterozygous cases.
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- Human Genetics, 2001, v. 108, n. 3, p. 222, doi. 10.1007/s004390000452
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- Article
Performance of Massive Parallel Sequencing-Based Cell-Free DNA Testing in Compromised Pregnancies.
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- Journal of Clinical Medicine, 2024, v. 13, n. 14, p. 4007, doi. 10.3390/jcm13144007
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- Article
Elevated Prostaglandin E 2 Synthesis Is Associated with Clinical and Radiological Disease Severity in Cystic Fibrosis.
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- Journal of Clinical Medicine, 2024, v. 13, n. 7, p. 2050, doi. 10.3390/jcm13072050
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- Publication type:
- Article
Absence of large intragenic rearrangements in the DPYD gene in a large cohort of colorectal cancer patients treated with 5-FU-based chemotherapy.
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- British Journal of Clinical Pharmacology, 2010, v. 70, n. 2, p. 268, doi. 10.1111/j.1365-2125.2010.03683.x
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- Article
Recessive mutations in muscle-specific isoforms of FXR1 cause congenital multi-minicore myopathy.
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- Nature Communications, 2019, v. 10, n. 1, p. 1, doi. 10.1038/s41467-019-08548-9
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- Article
Discordant Genotypic Sex and Phenotype Variations in Two Spanish Siblings with 17α-Hydroxylase/17,20-Lyase Deficiency Carrying the Most Prevalent Mutated CYP17A1 Alleles of Brazilian Patients.
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- Sexual Development, 2017, v. 11, n. 2, p. 70, doi. 10.1159/000468160
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- Publication type:
- Article
Treatment of spinal muscular atrophy cells with drugs that upregulate SMN expression reveals inter- and intra-patient variability.
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- European Journal of Human Genetics, 2011, v. 19, n. 10, p. 1059, doi. 10.1038/ejhg.2011.89
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- Article
Evidence of a segregation ratio distortion of SMN1 alleles in spinal muscular atrophy.
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- European Journal of Human Genetics, 2007, v. 15, n. 10, p. 1090, doi. 10.1038/sj.ejhg.5201886
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- Article
RegistrAME: the Spanish self-reported patient registry of spinal muscular atrophy.
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- Orphanet Journal of Rare Diseases, 2024, v. 19, n. 1, p. 1, doi. 10.1186/s13023-024-03071-7
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- Article
Clinical study of a patient with congenital myotonic dystrophy reveals chylothorax as neonatal presentation of the disease.
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- 2018
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- Case Study
CFTR expression and organ damage in cystic fibrosis.
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- Annals of Internal Medicine, 1995, v. 123, n. 4, p. 305, doi. 10.7326/0003-4819-123-4-199508150-00009
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- Publication type:
- Article
Neuronal death is enhanced and begins during foetal development in type I spinal muscular atrophy spinal cord.
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- Brain: A Journal of Neurology, 2002, v. 125, n. 7, p. 1624
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- Publication type:
- Article
Real-World Outcomes in Patients with Spinal Muscular Atrophy Treated with Onasemnogene Abeparvovec Monotherapy: Findings from the RESTORE Registry.
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- Journal of Neuromuscular Diseases, 2024, v. 11, n. 2, p. 425, doi. 10.3233/JND-230122
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- Article
Clinical Trial Readiness for Spinal Muscular Atrophy: Experience of an International Educational-Training Initiative.
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- Journal of Neuromuscular Diseases, 2022, v. 9, n. 6, p. 809, doi. 10.3233/JND-221538
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- Article
Combination disease‐modifying treatment in spinal muscular atrophy: A proposed classification.
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- Annals of Clinical & Translational Neurology, 2023, v. 10, n. 11, p. 2155, doi. 10.1002/acn3.51889
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- Article
Neurofilament as a potential biomarker for spinal muscular atrophy.
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- Annals of Clinical & Translational Neurology, 2019, v. 6, n. 5, p. 932, doi. 10.1002/acn3.779
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- Article
Skeletal abnormalities are common features in Aymé‐Gripp syndrome.
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- Clinical Genetics, 2020, v. 97, n. 2, p. 362, doi. 10.1111/cge.13651
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- Article
25 years of the SMN genes: the Copernican revolution of spinal muscular atrophy.
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- Acta Myologica, 2020, v. 39, n. 4, p. 336, doi. 10.36185/2532-1900-037
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- Article
Reply to "Global Central Nervous System Atrophy in Spinal Muscular Atrophy Type 0".
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- 2019
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- Publication type:
- Letter
Severe brain involvement in 5q spinal muscular atrophy type 0.
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- 2019
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- Publication type:
- journal article
Unusual context of CENPJ variants and primary microcephaly: compound heterozygosity and nonconsanguinity in an Argentinian patient.
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- Human Genome Variation, 2020, v. 7, n. 1, p. 1, doi. 10.1038/s41439-020-0105-3
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- Publication type:
- Article
Validation of nasospheroids to assay CFTR functionality and modulator responses in cystic fibrosis.
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- Scientific Reports, 2021, v. 11, n. 1, p. 1, doi. 10.1038/s41598-021-94798-x
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- Article
Natural history of KBG syndrome in a large European cohort.
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- Human Molecular Genetics, 2022, v. 31, n. 24, p. 4131, doi. 10.1093/hmg/ddac167
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- Article
The Burden of Spinal Muscular Atrophy on Informal Caregivers.
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- International Journal of Environmental Research & Public Health, 2020, v. 17, n. 23, p. 8989, doi. 10.3390/ijerph17238989
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- Article
The Economic Impact and Health-Related Quality of Life of Spinal Muscular Atrophy. An Analysis across Europe.
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- International Journal of Environmental Research & Public Health, 2020, v. 17, n. 16, p. 5640, doi. 10.3390/ijerph17165640
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- Article
Clinical and Molecular Profiling in GNAO1 Permits Phenotype–Genotype Correlation.
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- Movement Disorders, 2024, v. 39, n. 9, p. 1578, doi. 10.1002/mds.29881
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- Article
Reorganization of Cajal bodies and nucleolar targeting of coilin in motor neurons of type I spinal muscular atrophy.
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- Histochemistry & Cell Biology, 2012, v. 137, n. 5, p. 657, doi. 10.1007/s00418-012-0921-8
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- Publication type:
- Article
Decay in survival motor neuron and plastin 3 levels during differentiation of iPSC-derived human motor neurons.
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- Scientific Reports, 2015, p. 11696, doi. 10.1038/srep11696
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- Publication type:
- Article
Chromosomal microarray analysis in fetuses with central nervous system anomalies: An 8‐year long observational study from a tertiary care university hospital.
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- Prenatal Diagnosis, 2021, v. 41, n. 1, p. 123, doi. 10.1002/pd.5829
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- Article
New cases that expand the genotypic and phenotypic spectrum of Congenital NAD Deficiency Disorder.
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- Human Mutation, 2021, v. 42, n. 7, p. 862, doi. 10.1002/humu.24211
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- Article
Beyond copy number: A new, rapid, and versatile method for sequencing the entire SMN2 gene in SMA patients.
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- Human Mutation, 2021, v. 42, n. 6, p. 787, doi. 10.1002/humu.24200
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- Publication type:
- Article
Recommendations for Interpreting and Reporting Silent Carrier and Disease-Modifying Variants in SMA Testing Workflows.
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- Genes, 2022, v. 13, n. 9, p. 1657, doi. 10.3390/genes13091657
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- Publication type:
- Article
A Novel Intragenic Duplication in the HDAC8 Gene Underlying a Case of Cornelia de Lange Syndrome.
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- Genes, 2022, v. 13, n. 8, p. 1413, doi. 10.3390/genes13081413
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- Publication type:
- Article
A Novel Recurrent Breakpoint Responsible for Rearrangements in the Williams-Beuren Region.
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- Cytogenetic & Genome Research, 2015, v. 146, n. 3, p. 181, doi. 10.1159/000439463
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- Publication type:
- Article
A genetic and phenotypic analysis in Spanish spinal muscular atrophy patients with c.399_402del AGAG, the most frequently found subtle mutation in the SMN1 gene (Communicated by Graham R. Taylor).
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- Human Mutation, 2003, v. 22, n. 2, p. 136, doi. 10.1002/humu.10245
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- Publication type:
- Article
A genetic and phenotypic analysis in Spanish spinal muscular atrophy patients with c.399_402del AGAG, the most frequently found subtle mutation in the SMN1 geneCommunicated by Graham R. Taylor.
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- Human Mutation, 2003, v. 22, n. 2, p. 136, doi. 10.1002/humu.10245
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- Publication type:
- Article
Implementation of SMA carrier testing in genetic laboratories: comparison of two methods for quantifying the SMN1 gene.
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- Human Mutation, 2002, v. 20, n. 6, p. 452, doi. 10.1002/humu.10144
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- Publication type:
- Article