Found: 34
Select item for more details and to access through your institution.
Phenotypic variability in ARCA2 and identification of a core ataxic phenotype with slow progression.
- Published in:
- Orphanet Journal of Rare Diseases, 2013, v. 8, n. 1, p. 1, doi. 10.1186/1750-1172-8-173
- By:
- Publication type:
- Article
Hereditary spastic paraplegia type 5: natural history, biomarkers and a randomized controlled trial.
- Published in:
- 2017
- By:
- Publication type:
- journal article
De novo DNM1 mutations in two cases of epileptic encephalopathy.
- Published in:
- Epilepsia (Series 4), 2016, v. 57, n. 1, p. e18, doi. 10.1111/epi.13257
- By:
- Publication type:
- Article
Vanishing white matter disease: imaging, clinical and molecular correlation in Brazilian families.
- Published in:
- Neuroradiology, 2024, v. 66, n. 9, p. 1553, doi. 10.1007/s00234-024-03405-z
- By:
- Publication type:
- Article
New mutations in the GLA gene in Brazilian families with Fabry disease.
- Published in:
- Journal of Human Genetics, 2012, v. 57, n. 6, p. 347, doi. 10.1038/jhg.2012.32
- By:
- Publication type:
- Article
A recurrent homozygous LMNA missense variant p.Thr528Met causes atypical progeroid syndrome characterized by mandibuloacral dysostosis, severe muscular dystrophy, and skeletal deformities.
- Published in:
- American Journal of Medical Genetics. Part A, 2023, v. 191, n. 9, p. 2274, doi. 10.1002/ajmg.a.63335
- By:
- Publication type:
- Article
Sanfilippo syndrome type B: Analysis of patients diagnosed by the MPS Brazil Network.
- Published in:
- American Journal of Medical Genetics. Part A, 2022, v. 188, n. 3, p. 760, doi. 10.1002/ajmg.a.62572
- By:
- Publication type:
- Article
Mucopolysaccharidosis type IVA: Evidence of primary and secondary central nervous system involvement.
- Published in:
- American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 5, p. 1162, doi. 10.1002/ajmg.a.36424
- By:
- Publication type:
- Article
Obesity with associated developmental delay and/or learning disability in patients exhibiting additional features: Report of novel pathogenic copy number variants.
- Published in:
- American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 3, p. 479, doi. 10.1002/ajmg.a.35761
- By:
- Publication type:
- Article
Plasma Lysosphingomyelin Demonstrates Great Potential as a Diagnostic Biomarker for Niemann-Pick Disease Type C in a Retrospective Study.
- Published in:
- PLoS ONE, 2014, v. 9, n. 12, p. 1, doi. 10.1371/journal.pone.0114669
- By:
- Publication type:
- Article
Sequence and Copy Number Analyses of HEXB Gene in Patients Affected by Sandhoff Disease: Functional Characterization of 9 Novel Sequence Variants.
- Published in:
- PLoS ONE, 2012, v. 7, n. 7, p. 1, doi. 10.1371/journal.pone.0041516
- By:
- Publication type:
- Article
Mutations, Clinical Findings and Survival Estimates in South American Patients with X-Linked Adrenoleukodystrophy.
- Published in:
- PLoS ONE, 2012, v. 7, n. 3, p. 1, doi. 10.1371/journal.pone.0034195
- By:
- Publication type:
- Article
Analysis of the caregiver burden associated with Sanfilippo syndrome type B: panel recommendations based on qualitative and quantitative data.
- Published in:
- 2019
- By:
- Publication type:
- journal article
Multicentric study on the diagnosis of Fabry's disease using angiokeratoma biopsy registries.
- Published in:
- International Journal of Dermatology, 2015, v. 54, n. 6, p. e241, doi. 10.1111/ijd.12713
- By:
- Publication type:
- Article
The SMAD-binding domain of SKI: a hotspot for de novo mutations causing Shprintzen-Goldberg syndrome.
- Published in:
- European Journal of Human Genetics, 2015, v. 23, n. 2, p. 224, doi. 10.1038/ejhg.2014.61
- By:
- Publication type:
- Article
Achondroplasia in Latin America: practical recommendations for the multidisciplinary care of pediatric patients.
- Published in:
- 2022
- By:
- Publication type:
- journal article
Biallelic structural variations within FGF12 detected by long-read sequencing in epilepsy.
- Published in:
- Life Science Alliance, 2023, v. 6, n. 8, p. 1, doi. 10.26508/lsa.202302025
- By:
- Publication type:
- Article
Sapropterin dihydrochloride therapy in dihydropteridine reductase deficiency: Insight from the first case with molecular diagnosis in Brazil.
- Published in:
- Journal of Inherited Metabolic Disease Reports, 2021, v. 61, n. 1, p. 19, doi. 10.1002/jmd2.12224
- By:
- Publication type:
- Article
Morquio‐like dysostosis multiplex presenting with neuronopathic features is a distinct GLB1‐related phenotype.
- Published in:
- Journal of Inherited Metabolic Disease Reports, 2021, v. 60, n. 1, p. 23, doi. 10.1002/jmd2.12211
- By:
- Publication type:
- Article
Clinical findings in Brazilian patients with adult GM1 gangliosidosis.
- Published in:
- Journal of Inherited Metabolic Disease Reports, 2019, v. 49, n. 1, p. 96, doi. 10.1002/jmd2.12067
- By:
- Publication type:
- Article
PNPLA6 mutations cause Boucher-Neuhauser and Gordon Holmes syndromes as part of a broad neurodegenerative spectrum.
- Published in:
- 2014
- By:
- Publication type:
- journal article
PNPLA6 mutations cause Boucher-Neuhäuser and Gordon Holmes syndromes as part of a broad neurodegenerative spectrum.
- Published in:
- Brain: A Journal of Neurology, 2014, v. 137, n. 1, p. 69, doi. 10.1093/brain/awt326
- By:
- Publication type:
- Article
Maple syrup urine disease in Brazilian patients: variants and clinical phenotype heterogeneity.
- Published in:
- 2020
- By:
- Publication type:
- journal article
Clinical and biochemical study of 29 Brazilian patients with metachromatic leukodystrophy.
- Published in:
- Journal of Inherited Metabolic Disease, 2010, v. 33, p. 257, doi. 10.1007/s10545-010-9140-4
- By:
- Publication type:
- Article
Analyses of disease-related GNPTAB mutations define a novel GlcNAc-1-phosphotransferase interaction domain and an alternative site-1 protease cleavage site.
- Published in:
- Human Molecular Genetics, 2015, v. 24, n. 12, p. 3497, doi. 10.1093/hmg/ddv100
- By:
- Publication type:
- Article
BPAN MANIFESTING WITH FEBRILE SEIZURES AND LANGUAGE DELAY: A CASE REPORT FROM BRAZIL.
- Published in:
- Clinical & Biomedical Research, 2021, v. 41, n. 1, p. 91, doi. 10.22491/2357-9730.101603
- By:
- Publication type:
- Article
Chromosomal microarray analysis in the genetic evaluation of 279 patients with syndromic obesity.
- Published in:
- Molecular Cytogenetics (17558166), 2018, v. 11, p. 1, doi. 10.1186/s13039-018-0363-7
- By:
- Publication type:
- Article
Retinal Architecture in Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay (ARSACS): Insights into Disease Pathogenesis and Biomarkers.
- Published in:
- 2021
- By:
- Publication type:
- journal article
Genomic instability in Hoyeraal-Hreidarsson syndrome.
- Published in:
- Pediatric Blood & Cancer, 2010, v. 54, n. 5, p. 779, doi. 10.1002/pbc.22446
- By:
- Publication type:
- Article
KIAA0586 is Mutated in Joubert Syndrome.
- Published in:
- Human Mutation, 2015, v. 36, n. 9, p. 831, doi. 10.1002/humu.22821
- By:
- Publication type:
- Article
Analysis of LMNB1 Duplications in Autosomal Dominant Leukodystrophy Provides Insights into Duplication Mechanisms and Allele-Specific Expression.
- Published in:
- Human Mutation, 2014, v. 35, n. 1, p. 149, doi. 10.1002/humu.22466
- By:
- Publication type:
- Article
Analysis of LMNB1 Duplications in Autosomal Dominant Leukodystrophy Provides Insights into Duplication Mechanisms and Allele-Specific Expression.
- Published in:
- Human Mutation, 2013, v. 34, n. 8, p. 1160, doi. 10.1002/humu.22348
- By:
- Publication type:
- Article
Clinical and neuroimaging features of autosomal recessive spastic paraplegia 35 (SPG35): case reports, new mutations, and brief literature review.
- Published in:
- Neurogenetics, 2018, v. 19, n. 2, p. 123, doi. 10.1007/s10048-018-0538-8
- By:
- Publication type:
- Article
SPG11-related parkinsonism: Clinical profile, molecular imaging and l-dopa response.
- Published in:
- 2018
- By:
- Publication type:
- journal article