about
Ancestral origin of the ATTCT repeat expansion in spinocerebellar ataxia type 10 (SCA10)Very low levels of high density lipoprotein cholesterol in four sibs of a family with non-neuropathic Niemann-Pick disease and sea-blue histiocytosis.Diagnostic contribution of molecular analysis of the cystic fibrosis transmembrane conductance regulator gene in patients suspected of having mild or atypical cystic fibrosis.Identification of miRNAs that modulate glucocerebrosidase activity in Gaucher disease cells.Novel mutations in the glucocerebrosidase gene of brazilian patients with Gaucher disease.Prevalence of ERα-397 PvuII C/T, ERα-351 XbaI A/G and PGR PROGINS polymorphisms in Brazilian breast cancer-unaffected women.A de novo or germline mutation in a family with Mucolipidosis III gamma: Implications for molecular diagnosis and genetic counseling.Prevalence of the STK15 F31I polymorphism and its relationship with mammographic density.Nonmotor and extracerebellar features in Machado-Joseph disease: a review.Should spinocerebellar ataxias be included in the differential diagnosis for Huntington's diseases-like syndromes?Planning future clinical trials in Machado Joseph disease: Lessons from a phase 2 trial.A randomized, phase 2 clinical trial of lithium carbonate in Machado-Joseph disease.Genetic aspects of Huntington's disease in Latin America. A systematic review.NESSCA Validation and Responsiveness of Several Rating Scales in Spinocerebellar Ataxia Type 2.Spinocerebellar ataxia type 3/Machado-Joseph disease: segregation patterns and factors influencing instability of expanded CAG transmissions.Cancer in Machado-Joseph disease patients-low frequency as a cause of death.Dentatorubro-Pallidoluysian Atrophy (DRPLA) among 700 Families with Ataxia in Brazil.Neurological outcomes after hematopoietic stem cell transplantation for cerebral X-linked adrenoleukodystrophy, late onset metachromatic leukodystrophy and Hurler syndrome.The arylsulphatase A gene and molecular genetics of metachromatic leucodystrophy.SCA1 patients may present as hereditary spastic paraplegia and must be included in spastic-ataxias group.Cytokines in Machado Joseph Disease/Spinocerebellar Ataxia 3.Normal ATXN3 Allele but Not CHIP Polymorphisms Modulates Age at Onset in Machado-Joseph Disease.EMQN Best Practice Guidelines for molecular genetic testing of SCAs.Molecular Analysis of Spinal Muscular Atrophy: A genotyping protocol based on TaqMan(®) real-time PCR.Clinical and biochemical study of 29 Brazilian patients with metachromatic leukodystrophy.Haplotype Study in SCA10 Families Provides Further Evidence for a Common Ancestral Origin of the Mutation.Effects of glycosylation and pH conditions in the dynamics of human arylsulfatase A.Alterations of PI3K and Akt signaling pathways in the hippocampus and hypothalamus of Wistar rats treated with highly palatable food.Molecular characterization of phenylketonuria in South Brazil.Presymptomatic testing for neurogenetic diseases in Brazil: assessing who seeks and who follows through with testing.Niemann-Pick disease type C: a case series of Brazilian patients.Huntington disease and Huntington disease-like in a case series from Brazil.Unusual movement disorders in spinocerebellar ataxias.Spinocerebellar ataxias in Brazil--frequencies and modulating effects of related genes.Genotypic characterization of Brazilian patients with infantile and juvenile forms of metachromatic leukodystrophy.Parkinson's disease and the heterozygous state for glucocerebrosidase mutations among Brazilians.Prevalence of UGT1A1 gene polymorphism in patients with hemolytic anemia in southern Brazil.Clinical and molecular characterization of hereditary spastic paraplegias: A next-generation sequencing panel approach.Reduced penetrance of intermediate size alleles in spinocerebellar ataxia type 10.Molecular and biochemical biomarkers for diagnosis and therapy monitorization of Niemann-Pick type C patients.
P50
Q33411293-CB32A46F-A544-45C4-B1C7-4EEFA8CC49ACQ33598062-C06B860B-F907-4FC1-9A34-46D29215C109Q33823923-480D1C44-22E1-4DAE-B33E-59BE57506AEAQ36191373-4AC0491D-5131-4E1B-BEB6-3233A42C0F3EQ36591007-2D5F00D2-0CCF-4651-B704-60FB670C8218Q37370857-7908D3D8-92C3-4698-B8A3-D849C3A91AB5Q37434008-0206C263-80F9-44F3-9078-187E1023AFC9Q37853904-C8FABC68-A152-4D62-AF63-2BFD17CDB881Q38115268-3211E76D-49C9-452A-A6C2-297095C26E68Q38279753-2F7455EF-97C7-4FF2-80C5-1101EEB9F3D8Q38405485-BC9C2316-B8CD-4A70-AE4A-881956335348Q38438039-74E0D535-E5D1-44BC-9E03-E181B2181447Q38547880-F0C3B9EF-C028-4809-881B-AC6D745E9F68Q38689357-C87C7987-66B9-4B25-8EC1-B56C508F5FF7Q40181792-B9984089-9AC7-44FB-BE7B-4E19199D2D26Q40224791-9D77FFFC-7F8F-4952-AF3E-8F4EE9B590CDQ40232122-E32DAC0E-4CE6-4BA5-BFB2-4073849285E4Q40418478-5772E49B-2B97-4474-8FF7-DC986BDC567BQ40565457-3E20F64E-A0C2-4F68-A7CA-EBD5DCF0F40DQ40672472-5CA8B3FA-B0FB-4283-9811-AF22A0596562Q41332742-3FE65F4B-BD36-4E42-A7E6-9DB8D5504BE0Q41443029-FD2E6C57-C55D-49F0-922F-AD1EB1738F37Q41733044-61539D6E-759C-41C6-BF92-7FAF034EF3B8Q41761006-B97FFFF6-F49D-42EB-997C-1A34A0D0239DQ42473685-C0461721-BAD4-4396-8960-96BE45C33B5DQ42690468-192E4E9E-A061-4AAD-8DE3-5E13EB918622Q43866740-65C1CFC9-985D-4F03-A117-7B4D4679E011Q44173737-896BB533-0767-4CDF-A620-D5F6BC6765FBQ44452894-E292FBDC-ADA5-4D5F-A55D-E94D14F519B2Q44740899-CFA77AD8-8C73-4408-AB11-3A8A30B97C20Q44982124-844274EA-0F43-454B-B4C0-FC4EF8348D1CQ45295295-26084919-302F-46E2-A882-0982063C0C5FQ45747326-C4ADFDA8-6D88-4153-B829-B9646E510366Q45893158-1297824D-7AB0-4717-95FE-B1C62418E481Q45979799-EDAA3B5C-F306-402B-9807-5790B7D465B7Q46688701-63116CF5-FAE5-4763-A844-4049B3CF368DQ46972962-0937E295-4110-45BF-BDA8-8F154B3A93ADQ47288195-47E47D2D-AC04-4DC4-ACF9-EE5A073ABF82Q47336511-F9F5661B-ABB6-459B-A237-4F50F059E8D0Q47338731-A8E22856-5027-446F-99EA-E01BD1C37B28
P50
description
hulumtuese
@sq
researcher
@en
wetenschapper
@nl
հետազոտող
@hy
name
Maria Luiza Saraiva-Pereira
@ast
Maria Luiza Saraiva-Pereira
@en
Maria Luiza Saraiva-Pereira
@es
Maria Luiza Saraiva-Pereira
@nl
Maria Luiza Saraiva-Pereira
@sl
type
label
Maria Luiza Saraiva-Pereira
@ast
Maria Luiza Saraiva-Pereira
@en
Maria Luiza Saraiva-Pereira
@es
Maria Luiza Saraiva-Pereira
@nl
Maria Luiza Saraiva-Pereira
@sl
altLabel
Barth ML
@en
Pereira ML
@en
Pereira MLS
@en
prefLabel
Maria Luiza Saraiva-Pereira
@ast
Maria Luiza Saraiva-Pereira
@en
Maria Luiza Saraiva-Pereira
@es
Maria Luiza Saraiva-Pereira
@nl
Maria Luiza Saraiva-Pereira
@sl
P1053
H-6302-2013
P106
P1153
6507096351
P21
P31
P3829
P3835
maria-luiza-saraiva-pereira4
P496
0000-0003-3905-9563