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Glucocerebrosidase mutations confer a greater risk of dementia during Parkinson's disease course.
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- Movement Disorders, 2012, v. 27, n. 3, p. 393, doi. 10.1002/mds.24045
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- Article
A mutation within the saposin D domain in a Gaucher disease patient with normal glucocerebrosidase activity.
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- Human Genetics, 2005, v. 117, n. 2/3, p. 275, doi. 10.1007/s00439-005-1288-x
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- Article
Gene rearrangements in the glucocerebrosidase-metaxin region giving rise to disease-causing mutations and polymorphisms. Analysis of 25 RecNciI alleles in Gaucher disease patients.
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- Human Genetics, 2003, v. 112, n. 4, p. 426, doi. 10.1007/s00439-002-0894-0
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- Article
EXTL2 and EXTL3 inhibition with siRNAs as a promising substrate reduction therapy for Sanfilippo C syndrome.
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- Scientific Reports, 2015, p. 13654, doi. 10.1038/srep13654
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- Article
Inhibition of Soluble Epoxide Hydrolase Ameliorates Phenotype and Cognitive Abilities in a Murine Model of Niemann Pick Type C Disease.
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- International Journal of Molecular Sciences, 2021, v. 22, n. 7, p. 3409, doi. 10.3390/ijms22073409
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- Article
Sanfilippo Syndrome: Molecular Basis, Disease Models and Therapeutic Approaches.
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- International Journal of Molecular Sciences, 2020, v. 21, n. 21, p. 7819, doi. 10.3390/ijms21217819
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- Article
Mutational spectrum by phenotype: panel‐based NGS testing of patients with clinical suspicion of RASopathy and children with multiple café‐au‐lait macules.
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- Clinical Genetics, 2020, v. 97, n. 2, p. 264, doi. 10.1111/cge.13649
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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
New murine Niemann-Pick type C models bearing a pseudoexon-generating mutation recapitulate the main neurobehavioural and molecular features of the disease.
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- Scientific Reports, 2017, p. 41931, doi. 10.1038/srep41931
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- Article
Fifteen years of enzyme replacement therapy for mucopolysaccharidosis type VI (Maroteaux-Lamy syndrome): a case report.
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- 2022
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- journal article
Glucocerebrosidase Enhancers for Selected Gaucher Disease Genotypes by Modification of α-1- C-Substituted Imino- D-xylitols (DIXs) by Click Chemistry.
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- ChemMedChem, 2014, v. 9, n. 8, p. 1744, doi. 10.1002/cmdc.201402023
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- Article
Therapeutic strategies based on modified U1 snRNAs and chaperones for Sanfilippo C splicing mutations.
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- Orphanet Journal of Rare Diseases, 2014, v. 9, n. 1, p. 78, doi. 10.1186/s13023-014-0180-y
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- Article
Therapeutic strategies based on modified U1 snRNAs and chaperones for Sanfilippo C splicing mutations.
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- 2014
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- Publication type:
- journal article
Mucopolysaccharidosis type VI phenotypes-genotypes and antibody response to galsulfase.
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- Orphanet Journal of Rare Diseases, 2013, v. 8, n. 1, p. 1, doi. 10.1186/1750-1172-8-51
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- Article
Mucopolysaccharidosis type VI phenotypes-genotypes and antibody response to galsulfase.
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- 2013
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- Publication type:
- journal article
Mapping the genetic and clinical characteristics of Gaucher disease in the Iberian Peninsula.
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- 2012
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- Publication type:
- journal article
An evolutionary and structure-based docking model for glucocerebrosidase-saposin C and glucocerebrosidase-substrate interactions-Relevance for Gaucher disease.
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- Proteins, 2008, v. 70, n. 3, p. 882, doi. 10.1002/prot.21554
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- Article
Bone development and remodeling in metabolic disorders.
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- Journal of Inherited Metabolic Disease, 2020, v. 43, n. 1, p. 133, doi. 10.1002/jimd.12097
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- Article
Antisense oligonucleotide treatment for a pseudoexon-generating mutation in the NPC1 gene causing Niemann-Pick type C disease.
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- Human Mutation, 2009, v. 30, n. 11, p. E993, doi. 10.1002/humu.21119
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- Article
Identification and characterization of SMPD1 mutations causing Niemann-Pick types A and B in Spanish patients.
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- Human Mutation, 2009, v. 30, n. 7, p. 1117, doi. 10.1002/humu.21018
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- Article
Haplotype analysis suggests a single Balkan origin for the Gaucher disease [D409H;H255Q] double mutant allele.
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- Human Mutation, 2008, v. 29, n. 6, p. E58, doi. 10.1002/humu.20776
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- Article
Twenty-one novel mutations in the GLB1 gene identified in a large group of GM1-gangliosidosis and Morquio B patients: possible common origin for the prevalent p.R59H mutation among gypsies.
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- Human Mutation, 2006, v. 27, n. 10, p. 1060, doi. 10.1002/humu.9451
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- Article
A response to Kowarz et al.: Gaucher mutation c.680A>G (p.N227S) is associated with myoclonic epilepsy.
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- Human Mutation, 2005, v. 26, n. 3, p. 274, doi. 10.1002/humu.20218
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- Article
Functional analysis of 13 mutant alleles identified in Gaucher disease patients: pathogenic changes and 'modifier' polymorphisms.
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- Human Mutation, 2005, v. 26, n. 3, p. 276, doi. 10.1002/humu.20219
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- Article
Functional analysis of 13 GBA mutant alleles identified in Gaucher disease patients: Pathogenic changes and 'modifier' polymorphisms.
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- Human Mutation, 2004, v. 23, n. 6, p. 567, doi. 10.1002/humu.20043
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- Article
Analysis of ABCA4 in mixed Spanish families segregating different retinal dystrophies.
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- Human Mutation, 2002, v. 20, n. 6, p. 476, doi. 10.1002/humu.9086
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- Article
Spectrum of ABCA4 ( ABCR) gene mutations in Spanish patients with autosomal recessive macular dystrophies.
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- Human Mutation, 2001, v. 17, n. 6, p. 504, doi. 10.1002/humu.1133
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- Article
Mutation 1091delC is highly prevalent in Spanish Sanfilippo syndrome type A patients.
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- Human Mutation, 1998, v. 12, n. 4, p. 274, doi. 10.1002/(SICI)1098-1004(1998)12:4<274::AID-HUMU9>3.0.CO;2-F
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- Article
Molecular analysis and clinical findings in the Spanish Gaucher disease population: Putative haplotype of the N370S ancestral chromosome.
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- Human Mutation, 1998, v. 11, n. 4, p. 295, doi. 10.1002/(SICI)1098-1004(1998)11:4<295::AID-HUMU7>3.0.CO;2-6
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- Article
Two novel (1098insA and Y313H) and one rare (R359Q) mutations detected in exon 8 of the β-glucocerebrosidase gene in Gaucher's disease patients.
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- Human Mutation, 1996, v. 7, n. 3, p. 272, doi. 10.1002/(SICI)1098-1004(1996)7:3<272::AID-HUMU14>3.0.CO;2-#
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- Article
Gaucher disease in Spanish patients: Analysis of eight mutations.
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- Human Mutation, 1995, v. 5, n. 4, p. 303, doi. 10.1002/humu.1380050406
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- Article
Neuronal and Astrocytic Differentiation from Sanfilippo C Syndrome iPSCs for Disease Modeling and Drug Development.
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- Journal of Clinical Medicine, 2020, v. 9, n. 3, p. 644, doi. 10.3390/jcm9030644
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- Article
Screening of CD96 and ASXL1 in 11 Patients with Opitz C or Bohring-Opitz Syndromes.
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- American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 1, p. 24, doi. 10.1002/ajmg.a.37418
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- Article
Evaluation of Aminoglycoside and Non-Aminoglycoside Compounds for Stop-Codon Readthrough Therapy in Four Lysosomal Storage Diseases.
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- PLoS ONE, 2015, v. 10, n. 8, p. 1, doi. 10.1371/journal.pone.0135873
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- Article