Mayana Zatz
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Brazilian geneticist
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Biology
Mayana Zatz's Degrees
- Bachelors Biology University of São Paulo
- Masters Genetics University of São Paulo
- PhD Genetics University of São Paulo
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Why Is Mayana Zatz Influential?
(Suggest an Edit or Addition)According to Wikipedia, Mayana Zatz is a Brazilian molecular biologist and geneticist. She is a professor at the University of São Paulo, is its Research dean. Biography Professor Zatz's accomplishments have been recognized and she has received many awards and prizes, including the 2000 L'Oréal-UNESCO Awards for Women in Science and the 2001 Claudia Woman of the Year Award, by Claudia Magazine.
Mayana Zatz's Published Works
Number of citations in a given year to any of this author's works
Total number of citations to an author for the works they published in a given year. This highlights publication of the most important work(s) by the author
Published Works
- Mutations in the proteolytic enzyme calpain 3 cause limb-girdle muscular dystrophy type 2A (1995) (944)
- A mutation in the vesicle-trafficking protein VAPB causes late-onset spinal muscular atrophy and amyotrophic lateral sclerosis. (2004) (941)
- The genome sequence of the plant pathogen Xylella fastidiosa (2000) (928)
- A gene related to Caenorhabditis elegans spermatogenesis factor fer-1 is mutated in limb-girdle muscular dystrophy type 2B (1998) (635)
- Genome-wide Analyses Identify KIF5A as a Novel ALS Gene (2018) (414)
- Autosomal recessive limbgirdle muscular dystrophy, LGMD2F, is caused by a mutation in the δ–sarcoglycan gene (1996) (394)
- Multipotent Stem Cells from Umbilical Cord: Cord Is Richer than Blood! (2008) (371)
- Limb-girdle muscular dystrophy type 2G is caused by mutations in the gene encoding the sarcomeric protein telethonin (2000) (316)
- Purification and biological activity of thymosin, a hormone of the thymus gland. (1972) (278)
- Collagen XVIII, containing an endogenous inhibitor of angiogenesis and tumor growth, plays a critical role in the maintenance of retinal structure and in neural tube closure (Knobloch syndrome). (2000) (259)
- Autoantibodies neutralizing type I IFNs are present in ~4% of uninfected individuals over 70 years old and account for ~20% of COVID-19 deaths (2021) (257)
- Mutations in the gene encoding PDGF-B cause brain calcifications in humans and mice (2013) (248)
- Isolation, Characterization, and Differentiation Potential of Canine Adipose-Derived Stem Cells (2010) (236)
- Calpains and disease. (2005) (234)
- Caveolin-3 in muscular dystrophy. (1998) (222)
- Downregulation of VAPB expression in motor neurons derived from induced pluripotent stem cells of ALS8 patients (2011) (205)
- Early transplantation of human immature dental pulp stem cells from baby teeth to golden retriever muscular dystrophy (GRMD) dogs: Local or systemic? (2008) (193)
- Myocardial delayed enhancement by magnetic resonance imaging in patients with muscular dystrophy. (2007) (190)
- The sarcoglycan complex in the six autosomal recessive limb-girdle muscular dystrophies. (1996) (182)
- Autosomal recessive limb-girdle muscular dystrophy, LGMD2F, is caused by a mutation in the delta-sarcoglycan gene. (1996) (181)
- Mutations in the KIAA0196 gene at the SPG8 locus cause hereditary spastic paraplegia. (2007) (180)
- Rare variants in SOS2 and LZTR1 are associated with Noonan syndrome (2015) (177)
- Exomic variants of an elderly cohort of Brazilians in the ABraOM database (2017) (174)
- Mild and severe muscular dystrophy caused by a single gamma-sarcoglycan mutation. (1996) (170)
- High serum endostatin levels in Down syndrome: implications for improved treatment and prevention of solid tumours (2001) (160)
- Stem cell proliferation under low intensity laser irradiation: A preliminary study (2008) (160)
- Current status of thymosin and other hormones of the thymus gland. (1981) (151)
- Serum creatine-kinase (CK) and pyruvate-kinase (PK) activities in Duchenne (DMD) as compared with Becker (BMD) muscular dystrophy (1991) (143)
- The 10 autosomal recessive limb-girdle muscular dystrophies (2003) (130)
- Genomic screening for beta-sarcoglycan gene mutations: missense mutations may cause severe limb-girdle muscular dystrophy type 2E (LGMD 2E). (1996) (124)
- Mutations in SLC20A2 are a major cause of familial idiopathic basal ganglia calcification (2013) (124)
- The seventh form of autosomal recessive limb-girdle muscular dystrophy is mapped to 17q11-12. (1997) (122)
- Jagged 1 Rescues the Duchenne Muscular Dystrophy Phenotype (2015) (120)
- The facioscapulohumeral muscular dystrophy (FSHD1) gene affects males more severely and more frequently than females. (1998) (118)
- Limb-girdle muscular dystrophy: one gene with different phenotypes, one phenotype with different genes (2000) (118)
- Sexually dimorphic effect of the Val66Met polymorphism of BDNF on susceptibility to Alzheimer's disease: New data and meta‐analysis (2009) (118)
- THE DISTRIBUTION OF 51CR-LABELED LYMPHOCYTES INTO ANTIGEN-STIMULATED MICE (1971) (116)
- Asymptomatic carriers and gender differences in facioscapulohumeral muscular dystrophy (FSHD) (2004) (115)
- Familial spongiform encephalopathy associated with a novel prion protein gene mutation (1997) (111)
- Large-scale population analysis challenges the current criteria for the molecular diagnosis of fascioscapulohumeral muscular dystrophy. (2012) (109)
- Translocation (X;6) in a female with Duchenne muscular dystrophy: implications for the localisation of the DMD locus. (1981) (106)
- High proportion of new mutations and possible anticipation in Brazilian facioscapulohumeral muscular dystrophy families. (1995) (106)
- A common founder for amyotrophic lateral sclerosis type 8 (ALS8) in the Brazilian population (2005) (104)
- Linkage analysis in autosomal recessive limb-girdle muscular dystrophy (AR LGMD) maps a sixth form to 5q33-34 (LGMD2F) and indicates that there is at least one more subtype of AR LGMD. (1996) (97)
- Human multipotent adipose‐derived stem cells restore dystrophin expression of Duchenne skeletal‐muscle cells in vitro (2008) (97)
- Seven autosomal recessive limb-girdle muscular dystrophies in the Brazilian population: from LGMD2A to LGMD2G. (1999) (95)
- Discordant congenital Zika syndrome twins show differential in vitro viral susceptibility of neural progenitor cells (2018) (94)
- The distribution of chromium 51-labelled lymphoid cells in the mouse. A survey of anatomical compartments. (1970) (93)
- A defect in the RNA-processing protein HNRPDL causes limb-girdle muscular dystrophy 1G (LGMD1G). (2014) (93)
- Clinical variability in calpainopathy: What makes the difference? (2002) (91)
- A novel locus for late onset amyotrophic lateral sclerosis/motor neurone disease variant at 20q13 (2004) (88)
- Neuropathological diagnoses and clinical correlates in older adults in Brazil: A cross-sectional study (2017) (86)
- Rett syndrome in a boy with a 47,XXY karyotype confirmed by a rare mutation in the MECP2 gene. (2001) (86)
- Sarcoglycanopathies are responsible for 68% of severe autosomal recessive limb-girdle muscular dystrophy in the Brazilian population (1999) (86)
- Analysis of a novel functional polymorphism within the promoter region of the serotonin transporter gene (5-HTT) in Brazilian patients affected by bipolar disorder and schizophrenia. (1998) (85)
- Human fallopian tube: a new source of multipotent adult mesenchymal stem cells discarded in surgical procedures (2009) (85)
- Gene Expression Profile of Mesenchymal Stem Cells from Paired Umbilical Cord Units: Cord is Different from Blood (2009) (82)
- A gene which causes severe ocular alterations and occipital encephalocele (Knobloch syndrome) is mapped to 21q22.3. (1996) (82)
- Analysis of the CTG repeat in skeletal muscle of young and adult myotonic dystrophy patients: when does the expansion occur? (1995) (81)
- The most common mutation in FKRP causing limb girdle muscular dystrophy type 2I (LGMD2I) may have occurred only once and is present in Hutterites and other populations (2005) (77)
- Mesenchymal stem cells derived from canine umbilical cord vein--a novel source for cell therapy studies. (2010) (77)
- Red-green color vision impairment in Duchenne muscular dystrophy. (2007) (75)
- Myocardial Fibrosis Progression in Duchenne and Becker Muscular Dystrophy: A Randomized Clinical Trial (2017) (75)
- Asymptomatic carriers for homozygous novel mutations in the FKRP gene: the other end of the spectrum (2003) (74)
- SJL Dystrophic Mice Express a Significant Amount of Human Muscle Proteins Following Systemic Delivery of Human Adipose‐Derived Stromal Cells Without Immunosuppression (2008) (73)
- Mutation in the Scyl1 gene encoding amino‐terminal kinase‐like protein causes a recessive form of spinocerebellar neurodegeneration (2007) (73)
- Association of genetic variants in alcohol dehydrogenase 4 with alcohol dependence in Brazilian patients. (2005) (71)
- 3D bioprinting of liver spheroids derived from human induced pluripotent stem cells sustain liver function and viability in vitro (2019) (69)
- Role of the C677T polymorphism at the MTHFR gene on risk to nonsyndromic cleft lip with/without cleft palate: results from a case-control study in Brazil. (1999) (66)
- The short variant of the polymorphism within the promoter region of the serotonin transporter gene is a risk factor for late onset Alzheimer's disease (1998) (66)
- Apparent association of mental retardation and specific patterns of deletions screened with probes cf56a and cf23a in Duchenne muscular dystrophy. (1991) (66)
- CFTR, PRSS1 and SPINK1 mutations in the development of pancreatitis in Brazilian patients. (2003) (65)
- Screening of ARHSP‐TCC patients expands the spectrum of SPG11 mutations and includes a large scale gene deletion (2009) (65)
- A common missense mutation in the adhalin gene in three unrelated Brazilian families with a relatively mild form of autosomal recessive limb-girdle muscular dystrophy. (1995) (63)
- Characterization of human skeletal muscle Ankrd2. (2001) (61)
- Different mosaicism frequencies for proximal and distal Duchenne muscular dystrophy (DMD) mutations indicate difference in etiology and recurrence risk. (1992) (60)
- Begnign duchenne muscular dystrophy in a patient with growth hormone deficiency (1981) (59)
- Spastic paraplegia, optic atrophy, and neuropathy is linked to chromosome 11q13 (2005) (58)
- Dysferlin protein analysis in limb-girdle muscular dystrophies (2007) (57)
- Serum pyruvate-kinase (PK) and creatine-phosphokinase (CPK) in progressive muscular dystrophies (1978) (57)
- Genetic and physical mapping at the limb-girdle muscular dystrophy locus (LGMD2B) on chromosome 2p. (1996) (56)
- Description of a new mutation and characterization of FGFR1, FGFR2, and FGFR3 mutations among Brazilian patients with syndromic craniosynostoses. (1998) (55)
- Thymosin increases production of T-cell growth factor by normal human peripheral blood lymphocytes. (1984) (54)
- Telethonin protein expression in neuromuscular disorders. (2002) (54)
- Thymosins, lymphokines, and the immunology of aging. (1985) (54)
- Treatment of Duchenne muscular dystrophy with growth hormone inhibitors. (1986) (54)
- Molecular analysis in Brazilian cystic fibrosis patients reveals five novel mutations. (2000) (53)
- Metabolism of pantethine in cystinosis. (1985) (53)
- The p.P56S mutation in the VAPB gene is not due to a single founder: the first European case (2010) (52)
- Ringo, a Golden Retriever Muscular Dystrophy (GRMD) dog with absent dystrophin but normal strength (2008) (52)
- Benign Duchenne muscular dystrophy in a patient with growth hormone deficiency: a five years follow-up. (1986) (52)
- Immunofluorescence dystrophin study in Duchenne dystrophy through the concomitant use of two antibodies directed against the carboxy-terminal and the amino-terminal region of the protein (1991) (52)
- Human Endometrial-Derived Mesenchymal Stem Cells Suppress Inflammation in the Central Nervous System of EAE Mice (2012) (51)
- African ancestry protects against Alzheimer's disease-related neuropathology (2011) (51)
- Genotype-phenotype correlations in 35 Brazilian families with sarcoglycanopathies including the description of three novel mutations (2003) (51)
- A first missense mutation in the delta sarcoglycan gene associated with a severe phenotype and frequency of limb-girdle muscular dystrophy type 2F (LGMD2F) in Brazilian sarcoglycanopathies. (1998) (51)
- Mesenchymal stem cells from umbilical cord: Do not discard the cord! (2008) (51)
- Knobloch syndrome in a large Brazilian consanguineous family: confirmation of autosomal recessive inheritance. (1994) (51)
- The phenotype of chromosome 2p-linked limb-girdle muscular dystrophy (1996) (51)
- Central core disease due to recessive mutations in RYR1 gene: Is it more common than described? (2007) (50)
- Genetic heterogeneity for Duchenne-like muscular dystrophy (DLMD) based on linkage and 50 DAG analysis. (1993) (50)
- A new form of autosomal dominant limb-girdle muscular dystrophy (LGMD1G) with progressive fingers and toes flexion limitation maps to chromosome 4p21 (2004) (49)
- Main clinical features of the three mapped autosomal recessive limb-girdle muscular dystrophies and estimated proportion of each form in 13 Brazilian families. (1996) (49)
- Human Multipotent Mesenchymal Stromal Cells from Distinct Sources Show Different In Vivo Potential to Differentiate into Muscle Cells When Injected in Dystrophic Mice (2010) (48)
- Deficiency of merosin (laminin M or alpha 2) in congenital muscular dystrophy associated with cerebral white matter alterations. (1995) (48)
- Transcriptional regulation differs in affected facioscapulohumeral muscular dystrophy patients compared to asymptomatic related carriers (2009) (47)
- Pericytes Extend Survival of ALS SOD1 Mice and Induce the Expression of Antioxidant Enzymes in the Murine Model and in IPSCs Derived Neuronal Cells from an ALS Patient (2017) (46)
- Human Adipose-Derived Mesenchymal Stromal Cells Injected Systemically into GRMD Dogs without Immunosuppression are Able to Reach the Host Muscle and Express Human Dystrophin (2012) (46)
- Different Donors Mesenchymal Stromal Cells Secretomes Reveal Heterogeneous Profile of Relevance for Therapeutic Use. (2017) (45)
- Regulation of normal and leukaemic lymphocyte transformation and recirculation by sodium periodate oxidation and sodium borohydride reduction. (1972) (45)
- Nebulin expression in patients with nemaline myopathy (2001) (45)
- Combined Effect of AMPK/PPAR Agonists and Exercise Training in mdx Mice Functional Performance (2012) (45)
- Diabetes is Not Associated with Alzheimer's Disease Neuropathology. (2017) (43)
- Ringo: Discordance between the molecular and clinical manifestation in a Golden Retriever Muscular Dystrophy dog (2010) (43)
- Mutations in the caveolin-3 gene: When are they pathogenic? (2001) (43)
- Rett syndrome in a boy with a 47,XXY karyotype. (1999) (43)
- Stem cells from umbilical cord blood differentiate into myotubes and express dystrophin in vitro only after exposure to in vivo muscle environment (2007) (42)
- Absence of calpain 3 in a form of limb-girdle muscular dystrophy (LGMD2A) (1997) (42)
- A deletion including the brain promoter of the Duchenne muscular dystrophy gene is not associated with mental retardation (1992) (41)
- Zika Virus Selectively Kills Aggressive Human Embryonal CNS Tumor Cells In Vitro and In Vivo. (2018) (41)
- Studying severe long COVID to understand post-infectious disorders beyond COVID-19 (2022) (40)
- Half the dystrophin gene is apparently enough for a mild clinical course: confirmation of its potential use for gene therapy. (1994) (40)
- New linkage data for the X-linked types of muscular dystrophy and G6PD variants, colour blindness, and Xg blood groups (1974) (39)
- Pantethine and cystamine deplete cystine from cystinotic fibroblasts via efflux of cysteamine-cysteine mixed disulfide. (1984) (39)
- Down Syndrome iPSC-Derived Astrocytes Impair Neuronal Synaptogenesis and the mTOR Pathway In Vitro (2018) (39)
- Rare Variants in the Epithelial Cadherin Gene Underlying the Genetic Etiology of Nonsyndromic Cleft Lip with or without Cleft Palate (2015) (39)
- Changes in lymphoid populations of ageing CBA and NZB mice. (1971) (39)
- Screening of deletions in the dystrophin gene with the cDNA probes Cf23a, Cf56a, and Cf115. (1990) (38)
- Dystrophin immunostaining in muscles from patients with different types of muscular dystrophy: a Brazilian study (1990) (38)
- Estimate of the proportion of Duchenne muscular dystrophy with autosomal recessive inheritance. (1989) (38)
- The risk of COVID-19 death is much greater and age dependent with type I IFN autoantibodies (2022) (37)
- A new locus for recessive distal spinal muscular atrophy at Xq13.1–q21 (2004) (37)
- Spastic Paraplegia, Optic Atrophy, and Neuropathy: New Observations, Locus Refinement, and Exclusion of Candidate Genes (2009) (37)
- Absence of correlation between skewed X inactivation in blood and serum creatine-kinase levels in Duchenne/Becker female carriers. (1998) (36)
- Protein defects in neuromuscular diseases. (2003) (36)
- Comprehensive assessment of the disputed RET Y791F variant shows no association with medullary thyroid carcinoma susceptibility (2014) (35)
- Overexpression of KLC2 due to a homozygous deletion in the non-coding region causes SPOAN syndrome. (2015) (35)
- Creatine-phosphokinase (CPK) activity in relatives of patients with X-linked muscular dystrophies: a Brazilian study. (1976) (34)
- Contamination of Mesenchymal Stem-Cells with Fibroblasts Accelerates Neurodegeneration in an Experimental Model of Parkinson’s Disease (2011) (33)
- Lack of association between the brain-derived neurotrophin factor (C-270T) polymorphism and late-onset Alzheimer’s disease (LOAD) in Brazilian patients (2007) (33)
- X-linked recessive type of pure spastic paraplegia in a large pedigree: absence of detectable linkage with Xg. (1976) (33)
- Analysis of IL-1α, IL-1β, and IL-RA polymorphisms in dysthymia (2007) (33)
- Pfeiffer mutation in an Apert patient: how wide is the spectrum of variability due to mutations in the FGFR2 gene? (1997) (32)
- Absence of correlation between utrophin localization and quantity and the clinical severity in Duchenne/Becker dystrophies. (1995) (32)
- Effects of BCG on lymphocyte trapping. (1976) (32)
- Investigation on genetic heterogeneity in Duchenne muscular dystrophy. (1986) (32)
- Adult and iPS-derived non-parenchymal cells regulate liver organoid development through differential modulation of Wnt and TGF-β (2019) (32)
- Analysis of the serotonin transporter polymorphism (5-HTTLPR) in Brazilian patients affected by dysthymia, major depression and bipolar disorder (2000) (31)
- Preclinical Studies with Umbilical Cord Mesenchymal Stromal Cells in Different Animal Models for Muscular Dystrophy (2011) (31)
- Is the maintainance of the C-terminus domain of dystrophin enough to ensure a milder Becker muscular dystrophy phenotype? (1993) (31)
- Relation between height and clinical course in Duchenne muscular dystrophy. (1988) (31)
- Intrafamilial variability in dystrophin abundance correlated with difference in the severity of the phenotype (1993) (31)
- Prenatal diagnosis in laminin α2 chain (merosin)-deficient congenital muscular dystrophy: A collective experience of five international centers (2005) (31)
- Benign Duchenne muscular dystrophy in a patient with growth hormone deficiency. (1981) (30)
- A multi-exonic SPG4 duplication underlies sex-dependent penetrance of hereditary spastic paraplegia in a large Brazilian pedigree (2007) (30)
- Serum pyruvate-kinase (PK) and creatine-phosphokinase (CPK) in female relatives and patients with X-linked muscular dystrophies (Duchenne and Becker) (1980) (30)
- Myotonic dystrophy: genetic, clinical, and molecular analysis of patients from 41 Brazilian families. (1995) (30)
- The effect of calpain 3 deficiency on the pattern of muscle degeneration in the earliest stages of LGMD2A (2003) (30)
- Muscular dystrophy in a family of Labrador Retrievers with no muscle dystrophin and a mild phenotype (2015) (30)
- Mechanism of action of thymosin. I. Thymosin fraction 5 increases lymphokine production by mature murine T cells responding in a mixed lymphocyte reaction. (1985) (30)
- Human Tubal-Derived Mesenchymal Stromal Cells Associated with Low Level Laser Therapy Significantly Reduces Cigarette Smoke–Induced COPD in C57BL/6 mice (2015) (29)
- Role of Thymosin and Other Thymic Hormones in T-Cell Differentiation (1982) (29)
- Association of MAO A polymorphism and alcoholism in Brazilian females (2005) (29)
- Recessive inborn errors of type I IFN immunity in children with COVID-19 pneumonia (2022) (29)
- A mutation in human VAP-B--MSP domain, present in ALS patients, affects the interaction with other cellular proteins. (2007) (29)
- Thymus dependence of lymphocyte trapping. (1974) (29)
- Systemic Delivery of Human Mesenchymal Stromal Cells Combined with IGF-1 Enhances Muscle Functional Recovery in LAMA2dy/2j Dystrophic Mice (2013) (28)
- Severe nonspecific X-linked mental retardation caused by a proximally Xp located gene: intragenic heterogeneity or a new form of X-linked mental retardation? (1993) (28)
- Milder course in Duchenne patients with nonsense mutations and no muscle dystrophin (2014) (28)
- Bioinformatics Training in the USA (2002) (28)
- FREQUENCY OF DUCHENNE MUSCULAR DYSTROPHY CARRIERS (1977) (28)
- Partial α‐sarcoglycan deficiency with retention of the dystrophin‐glycoprotein complex in a LGMD2D family (2000) (27)
- Lymphocyte populations of AKR-J mice. I. Effect of aging on migration patterns, response to PHA and expression of theta antigen. (1973) (27)
- Short stature in Duchenne muscular dystrophy. (1991) (26)
- Repression of phosphatidylinositol transfer protein α ameliorates the pathology of Duchenne muscular dystrophy (2017) (26)
- MHC Variants Associated With Symptomatic Versus Asymptomatic SARS-CoV-2 Infection in Highly Exposed Individuals (2021) (26)
- Cosegregation of schizophrenia with Becker muscular dystrophy: susceptibility locus for schizophrenia at Xp21 or an effect of the dystrophin gene in the brain? (1993) (26)
- Prion disease resembling frontotemporal dementia and parkinsonism linked to chromosome 17. (2001) (26)
- Point mutation in a Becker muscular dystrophy patient. (1993) (26)
- Further evidence for the organisation of the four sarcoglycans proteins within the dystrophin–glycoprotein complex (1999) (25)
- A new form of autosomal dominant limb-girdle muscular dystrophy (LGMD1G) with progressive fingers and toes flexion limitation maps to chromosome 4p21 (2005) (25)
- A global effort to dissect the human genetic basis of resistance to SARS-CoV-2 infection (2021) (25)
- Reevaluation of a large family defines a new locus for X-linked recessive pure spastic paraplegia (SPG34) on chromosome Xq25 (2008) (24)
- Deficiency of α-Actinin-3 (ACTN3) Occurs in Different Forms of Muscular Dystrophy (1997) (24)
- The effect of histocompatibility antigens on lymphocyte migration in the mouse. (1972) (24)
- Novel point mutations in the dystrophin gene (1997) (23)
- Linkage studies in bipolar affective disorder with markers on chromosome 21. (1996) (23)
- Population and Computational Analysis of the MGEA6 P521A Variation as a Risk Factor for Familial Idiopathic Basal Ganglia Calcification (Fahr’s Disease) (2011) (23)
- Effects of reproductive compensation and genetic drift on X-linked lethals. (1978) (23)
- A Caucasian family with the 3271 mutation in mitochondrial DNA. (1994) (23)
- Mechanism of action of thymosin. II. Effects of aspirin and thymosin on enhancement of IL-2 production. (1985) (22)
- Association between the p27 rs2066827 variant and tumor multiplicity in patients harboring MEN1 germline mutations. (2014) (22)
- Whole-genome sequencing of 1,171 elderly admixed individuals from the largest Latin American metropolis (São Paulo, Brazil) (2020) (22)
- Paracoccidioidomycosis Associated With a Heterozygous STAT4 Mutation and Impaired IFN-&ggr; Immunity (2017) (22)
- Muscular dystrophy-related quantitative and chemical changes in adenohypophysis GH-cells in golden retrievers. (2007) (22)
- Schinzel–Giedion syndrome in two Brazilian patients: Report of a novel mutation in SETBP1 and literature review of the clinical features (2015) (22)
- Genetic variability in COVID-19-related genes in the Brazilian population (2020) (22)
- Congenital muscular dystrophy with cerebral white matter hypodensity. Correlation of clinical features and merosin deficiency (1996) (21)
- Social adjustment in adult males affected with progressive muscular dystrophy. (1998) (21)
- Homozygosity for autosomal dominant facioscapulohumeral muscular dystrophy (FSHD) does not result in a more severe phenotype (2004) (21)
- Screening of male patients with autosomal recessive Duchenne dystrophy through dystrophin and DNA studies. (1991) (21)
- Muscle Protein Alterations in LGMD2I Patients With Different Mutations in the Fukutin-related Protein Gene (2008) (21)
- Stem cells for amyotrophic lateral sclerosis modeling and therapy: Myth or fact? (2015) (21)
- [Myotonic dystrophy and heart disease: behavior of arrhythmic events and conduction disturbances]. (2005) (21)
- Calpainopathy: how broad is the spectrum of clinical variability? (2003) (20)
- Dystrophin immunofluorescence pattern in manifesting and asymptomatic carriers of Duchenne's and Becker muscular dystrophies of different ages (1991) (20)
- Human Fallopian Tube Mesenchymal Stromal Cells Enhance Bone Regeneration in a Xenotransplanted Model (2011) (20)
- Analysis of IL-1alpha, IL-1beta, and IL-1RA [correction of IL-RA] polymorphisms in dysthymia. (2004) (20)
- Monoamine oxidase a polymorphism in brazilian patients (2007) (20)
- p27 variant and corticotropinoma susceptibility: a genetic and in vitro study. (2014) (19)
- Different behavior in the paternally vs. maternally inherited mutated allele in Brazilian Machado-Joseph (MJD1) families. (1998) (19)
- Brazilian family with pure autosomal dominant spastic paraplegia maps to 8q: analysis of muscle beta 1 syntrophin. (2000) (19)
- Homozygous missense mutation in MED25 segregates with syndromic intellectual disability in a large consanguineous family (2014) (19)
- Multiple occurrence of spontaneous AKR/J lymphomas with T and B cell characteristics. (1977) (18)
- Corresponding editor's column: Suggestion for a possible mitigating treatment of duchenne muscular dystrophy (1981) (18)
- Autosomal dominant (AD) pure spastic paraplegia (HSP) linked to locus SPG4 affects almost exclusively males in a large pedigree (2002) (18)
- A normal life without muscle dystrophin (2015) (18)
- A homozygous loss-of-function mutation in inositol monophosphatase 1 (IMPA1) causes severe intellectual disability (2016) (18)
- Whole-genome sequencing of 1,171 elderly admixed individuals from Brazil (2022) (18)
- A family with McLeod syndrome and calpainopathy with clinically overlapping diseases (2005) (17)
- The risk of COVID-19 death is much greater and age-dependent with type I IFN autoantibodies (2022) (17)
- F1 resistance to AKR lymphoma cells in vivo and in vitro. (1977) (17)
- Stem cells from umbilical cord blood do have myogenic potential, with and without differentiation induction in vitro (2009) (17)
- Assessment of the 50-kDa dystrophin-associated glycoprotein in Brazilian patients with severe childhood autosomal recessive muscular dystrophy (1994) (16)
- The use of concomitant serum pyruvate-kinase (PK) and creatine-phosphokinase (CPK) for carrier detection in Duchenne's muscular dystrophy through discriminant analysis (1980) (16)
- Neuromuscular disorders: genes, genetic counseling and therapeutic trials (2016) (16)
- Human Adipose Tissue Derived Pericytes Increase Life Span in Utrntm1KedDmdmdx/J Mice (2014) (16)
- Differential gene expression elicited by ZIKV infection in trophoblasts from congenital Zika syndrome discordant twins (2019) (16)
- Safety, Tumor Reduction, and Clinical Impact of Zika Virus Injection in Dogs with Advanced-Stage Brain Tumors (2020) (16)
- Further evidence for a fourth gene causing X-linked pure spastic paraplegia. (2002) (15)
- Lack of the C‐terminal domain of nebulin in a patient with nemaline myopathy (2002) (15)
- Genetic aspects of adolescent idiopathic scoliosis in a family with multiple affected members: a research article (2010) (15)
- Effect of mazindol on growth hormone levels in patients with Duchenne muscular dystrophy. (1988) (15)
- Equal proportions of affected cells in muscle and blood of a mosaic carrier of facioscapulohumeral muscular dystrophy (2006) (15)
- Transplantation of Human Adipose Mesenchymal Stem Cells in Non-Immunosuppressed GRMD Dogs is a Safe Procedure (2016) (15)
- Alterations in lymphocyte populations in tumorigenesis. I. Lymphocyte trapping. (1973) (15)
- Spontaneous AKR lymphoma with T and B-cell characteristics (1975) (15)
- Duchenne-like muscular dystrophy in the Arabs. (1990) (15)
- The use of apolipoprotein E genotype for preclinical detection of risk's group for Alzheimer's disease. (1997) (14)
- Identification of 8 new mutations in Brazilian families with Marfan syndrome (1999) (14)
- Rod Distribution and Muscle Fiber Type Modification in the Progression of Nemaline Myopathy (2003) (14)
- A biologia molecular contribuindo para a compreensão e a prevenção das doenças hereditárias (2002) (14)
- A Novel Saliva RT-LAMP Workflow for Rapid Identification of COVID-19 Cases and Restraining Viral Spread (2021) (14)
- Clinical diagnosis of heterozygous dystrophin gene deletions by fluorescence in situ hybridization (1998) (14)
- Use of normal daughters' CPK levels in the estimation of heterozygosity risks in X-linked muscular dystrophies. (1975) (14)
- Facioscapulohumeral Muscular Dystrophy: More Complex than it Appears. (2014) (14)
- Familial occurrence of Duchenne dystrophy through paternal lines in four families. (1991) (14)
- Segregation distortion of the CTG repeats at the myotonic dystrophy (DM) locus: new data from Brazilian DM families. (1997) (14)
- Nocturnal rhythm of growth hormone in Duchenne patients: effect of different doses of mazindol and/or cyproheptadine. (1989) (14)
- Duchenne muscular dystrophy in a girl with a 45,X/46,XX/47,XXX chromosome constitution. (1986) (13)
- Screening of the C43G mutation in the promoter region of the XIST gene in females with highly skewed X-chromosome inactivation. (1999) (13)
- Analysis of mutations in the cystic fibrosis transmembrane regulator (CFTR) gene in patients with obstructive azoospermia (2003) (13)
- Genetic counseling for childless women at risk for Duchenne muscular dystrophy. (1999) (13)
- Separation and characterization of two component tumor lines within the AKR lymphoma, AKTB-1, by fluorescence-activated cell sorting and flow microfluorometry analysis. II. Differential histopathology of sIg+ and sIg- sublines. (1982) (13)
- Genetic heterogeneity in Duchenne muscular dystrophy. (1987) (13)
- The association of the short variant of the 5-HTTPLR polymorphism and the apoE4 allele does not increase the risk for late onset Alzheimer's disease (1999) (13)
- Deficiency of muscle α-actinin-3 is compatible with high muscle performance (2003) (13)
- Linkage analysis between bipolar affective disorder and markers on chromosome X (1998) (13)
- Lymphocyte trapping in tolerant mice. (1971) (13)
- Projeto genoma humano e ética (2000) (12)
- Sarcoglycanopathies: A Multiplex Molecular Analysis for the Most Common Mutations (2006) (12)
- A malignant form of neurogenic muscular atrophy in adults, with dominant inheritance. (1971) (12)
- Clonagem e células-tronco (2004) (12)
- Limb-girdle syndrome: a genetic study of 22 large Brazilian families comparison with X-linked Duchenne and Becker dystrophies (1991) (12)
- Deepening a Simple Question: Can MSCs Be Used to Treat Cancer? (2017) (12)
- Thomsen or Becker myotonia? A novel autosomal recessive nonsense mutation in the CLCN1 gene associated with a mild phenotype (2012) (12)
- Deficiency of muscle alpha-actinin-3 is compatible with high muscle performance. (2003) (12)
- Retinal toxicity of methylazoxymethanol acetate is developmentally specific. (1981) (12)
- Pantethine depletes cystinotic fibroblasts of cystine. (1983) (12)
- Separation and characterization of two component tumor lines within the AKR lymphoma, AKTB-1, by fluorescence-activated cell sorting and flow microfluorometry analysis. I. the coexistence of sIg+ and sIg- sublines. (1981) (12)
- A new evidence for the maintenance of the sarcoglycan complex in muscle sarcolemma in spite of the primary absence of δ-SG protein (2007) (12)
- The study of genetic polymorphisms related to serotonin in Alzheimer's disease: a new perspective in a heterogenic disorder. (1999) (12)
- Antigen-induced depression of DNA synthesis in mouse spleen. (1973) (12)
- The Genetics of Alzheimer’s Disease in Brazil: 10 Years of Analysis in a Unique Population (2008) (12)
- Diagnosis of limb‐girdle muscular dystrophy 2A by immunohistochemical techniques (2008) (11)
- Dystrophin Is Required for Proper Functioning of Luminance and Red-Green Cone Opponent Mechanisms in the Human Retina. (2016) (11)
- Alterations in visual acuity and visual development in infants 1-24 months old either exposed to or infected by Zika virus during gestation, with and without microcephaly. (2019) (11)
- A novel stop codon mutation in the PMP22 gene associated with a variable phenotype (2004) (11)
- A new method for the analysis of age trends in CPK levels with application to Duchenne muscular dystrophy. (1979) (11)
- A novel COL1A1 gene-splicing mutation (c.1875+1G>C) in a Brazilian patient with osteogenesis imperfecta. (2009) (11)
- Fine mapping and clinical reevaluation of a Brazilian pedigree with a severe form of X‐linked mental retardation associated with other neurological dysfunction (2004) (11)
- Human Mesenchymal Stromal Cells Transplantation May Enhance or Inhibit 4T1 Murine Breast Adenocarcinoma through Different Approaches (2015) (11)
- Serum Creatine Kinase in Progressive Muscular Dystrophies (2001) (11)
- Mechanistic Insights of Astrocyte-Mediated Hyperactive Autophagy and Loss of Motor Neuron Function in SOD1L39R Linked Amyotrophic Lateral Sclerosis (2020) (11)
- The biologic activity of affinity cross-linked oligomers of rabbit immunogloblin G as tested by antigody-dependent cell-mediated cytolysis (ADCC). (1977) (11)
- Clinical and molecular analysis of spinal muscular atrophy in Brazilian patients (1999) (11)
- Facioscapulohumeral (FSHD1) and other forms of muscular dystrophy in the same family: is there more in muscular dystrophy than meets the eye? (2002) (10)
- Immunological methods for the analysis of protein expression in neuromuscular diseases. (2003) (10)
- Partial alpha-sarcoglycan deficiency with retention of the dystrophin-glycoprotein complex in a LGMD2D family. (2000) (10)
- Deficiency of alpha-actinin-3 (ACTN3) occurs in different forms of muscular dystrophy. (1997) (10)
- Is dystrophin always altered in Becker muscular dystrophy patients? (1995) (10)
- Efficient exon skipping of SGCG mutations mediated by phosphorodiamidate morpholino oligomers. (2018) (10)
- Adipose-Derived Mesenchymal Stromal Cells (2016) (10)
- Estimate of germinal mosaicism in Duchenne muscular dystrophy. (1990) (10)
- Lymphocyte populations of AKR/J mice. III. Changes in the preleukemic state. (1975) (10)
- Germline variants of Brazilian women with breast cancer and detection of a novel pathogenic ATM deletion in early-onset breast cancer (2020) (10)
- Immunogenetics of resistance to SARS-CoV-2 infection in discordant couples (2021) (10)
- Different origins of mutations at the Machado-Joseph locus (MJD1) (1996) (10)
- Linkage analysis in families with autosomal recessive limb-girdle muscular dystrophy (LGMD) and 6q probes flanking the dystrophin-related sequence. (1991) (10)
- Clinical symptoms in a female carrier of Duchenne muscular dystrophy. (1973) (10)
- Facioscapulohumeral muscular dystrophy: aspects of genetic counselling, acceptance of preclinical diagnosis, and fitness. (1993) (9)
- Human Adipose-Derived CD146+ Stem Cells Increase Life Span of a Muscular Dystrophy Mouse Model More Efficiently than Mesenchymal Stromal Cells. (2018) (9)
- Clinical aspects of hereditary spastic paraplegia 76 and novel CAPN1 mutations (2018) (9)
- Targeted molecular investigation in patients within the clinical spectrum of Auriculocondylar syndrome (2017) (9)
- Variable expressivity of osteogenesis imperfecta in a Brazilian family due to p.G1079S mutation in the COL1A1 gene. (2012) (9)
- Motor and functional evaluation of patients with spastic paraplegia, optic atrophy, and neuropathy (SPOAN). (2010) (9)
- Identical twins with Idiopathic Basal Ganglia Calcification ("Fahr's Disease") presenting with a remarkably similar pattern of neuroimaging findings. (2009) (9)
- Effects of genetic counseling on Duchenne muscular dystrophy families in Brazil. (1983) (9)
- Evaluation of carrier detection rates for Duchenne and Becker muscular dystrophies using serum creatine-kinase (CK) and pyruvate-kinase (PK) through discriminant analysis. (1986) (9)
- Ultra-sonografia abdominal e pélvica em cães da raça golden retriever sadios, portadores e afetados pela distrofia muscular progressiva (2008) (9)
- Paternal inheritance or different mutations in maternally related patients occur in about 3% of Duchenne familial cases. (1998) (9)
- Molecular characterization of further dystrophin gene microsatellites. (1995) (9)
- On the mode of action of thymosin. (1973) (8)
- Detection of small copy number variations (CNVs) in autism spectrum disorder (ASD) by custom array comparative genomic hybridization (aCGH) (2016) (8)
- Global and local ancestry modulate APOE association with Alzheimer’s neuropathology and cognitive outcomes in an admixed sample (2022) (8)
- Comparison of the effects of thymosin and other thymic factors on modulation of interleukin-2 production. (1985) (8)
- Correlação entre o tempo de realização de diferentes atividades físicas por portadores de distrofia muscular de Duchenne (2003) (8)
- Estudo longitudinal da densidade mineral óssea em cães jovens da raça Golden Retriever: Correlações com idade e peso corpóreo (2006) (8)
- Pre-coating decellularized liver with HepG2-conditioned medium improves hepatic recellularization. (2021) (8)
- Analysis of the disease risk locus DXS1047 polymorphism in Brazilian Alzheimer patients (2000) (8)
- Development of a comprehensive noninvasive prenatal test (2018) (8)
- Suppressor cell responses in patients with rheumatoid arthritis: the effect of thymosin. (1984) (8)
- Sweat electrolyte and cystic fibrosis mutation analysis allows early diagnosis in Brazilian children with clinical signs compatible with cystic fibrosis. (1998) (8)
- Structural variation of the malaria-associated human glycophorin A-B-E region (2019) (8)
- The effect of methylazoxymethanol acetate (MAM) on the developing rat retina. (1982) (8)
- Additional dystrophin fragment in Becker muscular dystrophy patients: correlation with the pattern of DNA deletion. (1992) (8)
- 10q23.31 microduplication encompassing PTEN decreases mTOR signalling activity and is associated with autosomal dominant primary microcephaly (2018) (7)
- Heterogeneity of Classic Congenital Muscular Dystrophy With Involvement of the Central Nervous System: Report of Five Atypical Cases (2000) (7)
- Sarcoglycanopathies: an update (2021) (7)
- Socioeconomic Factors and Health Status Disparities Associated with Difficulty in ADLs and IADLs among Long-Lived Populations in Brazil: A Cross-Sectional Study (2021) (7)
- Concordant utrophin upregulation in phenotypically discordant DMD/BMD brothers (2016) (7)
- G.P.40 LGMD2G with clinical presentation of congenital muscular dystrophy: A rare phenotype (2012) (7)
- A Multifaceted Role for Thymosin and its Composite Peptides in T-Cell Regulation (1981) (7)
- Definitive localization of Becker muscular dystrophy in Xp by linkage to a cluster of DNA polymorphisms (DXS43 and DXS9) (2004) (7)
- Diagnosis, carrier detection, and genetic counseling in the muscular dystrophies. (1978) (7)
- Duchenne muscular dystrophy: comparison among different racial groups. (1987) (7)
- HLA-G genetic diversity and evolutive aspects in worldwide populations (2021) (6)
- Protein and DNA Analysis for the Prenatal Diagnosis of α2-Laminin–Deficient Congenital Muscular Dystrophy (2004) (6)
- Racial effect on serum creatine-kinase: implications for estimation of heterozygosity risks for females at-risk for Duchenne dystrophy. (1989) (6)
- Origin and age of the causative mutations in KLC2, IMPA1, MED25 and WNT7A unravelled through Brazilian admixed populations (2018) (6)
- Hypothesis: the existence of embryonic and adult isoforms of mRNA dystrophin provides an explanation for unusual clinical findings. (1989) (6)
- Effect of age on the detection rate in Duchenne muscular dystrophy (1980) (6)
- Serum pyruvate-kinase (PK) activity during pregnancy in potential carriers for Duchenne muscular dystrophy. (1983) (6)
- Mutation analysis in the FKRP gene provides an explanation for a rare cause of intrafamilial clinical variability in LGMD2I (2006) (6)
- Friedreich's ataxia: clinical and molecular study of 25 Brazilian cases. (2001) (6)
- Reproductive fitness and frequency of new mutations in Becker muscular dystrophy: implications for genetic risk estimates. (1991) (6)
- Association of schizophrenia and Duchenne muscular dystrophy (1993) (6)
- Pyruvate-kinase (PK) and creatine-kinase (CK) in normal pregnancy and its implication in genetic counseling of Duchenne muscular dystrophy (DMD). (1982) (6)
- Comments to the paper by Ambrósio CE, Fadel L, Gaiad TP, Martins DS, et al. [Identification of three distinguishable phenotypes in golden retriever muscular dystrophy (Genet. Mol. Res. 2009 Apr 7;8 (2): 389-396)]. (2009) (6)
- Applied Hepatic Bioengineering: Modeling the Human Liver Using Organoid and Liver-on-a-Chip Technologies (2022) (6)
- How the magnitude of clinical severity and recurrence risk affects reproductive decisions in adult males with different forms of progressive muscular dystrophy. (1998) (6)
- Assessing Pathogenicity for Novel Mutation/Sequence Variants: The Value of Healthy Older Individuals (2012) (6)
- Nerve conduction studies in spastic paraplegia, optic atrophy, and neuropathy (SPOAN) syndrome (2014) (6)
- Exclusion of the 15q locus as a candidate gene for severe childhood autosomal recessive Duchenne-like muscular dystrophy in Brazilian families. (1993) (6)
- Newborn Screening for 5q Spinal Muscular Atrophy: Comparisons between Real-Time PCR Methodologies and Cost Estimations for Future Implementation Programs (2021) (6)
- Publisher Correction: Discordant congenital Zika syndrome twins show differential in vitro viral susceptibility of neural progenitor cells (2018) (6)
- Why is the reproductive performance lower in Becker (BMD) as compared to limb girdle (LGMD) muscular dystrophy male patients? (1995) (6)
- Enhancement of murine thymocyte cytotoxic T cell responses by thymosin. (1983) (6)
- Regulation of lymphocyte trapping: the negative trap. (1975) (6)
- CARACTERIZAÇÃO DA PASSAGEM DA POSTURA DE BIPEDESTAÇÃO PARA A DE SEDESTAÇÃO NO SOLO, EM CRIANÇAS PORTADORAS DE DISTROFIA MUSCULAR DE DUCHENNE CARACTERIZATION OF THE TRANSFERENCE OF POSTURE FROM ORTHOSTATISM TO SITTING ON THE FLOOR IN CHILDREN WITH DUCHENNE MUSCULAR DYSTROPHY (2002) (6)
- Complexity of the 5′ Untranslated Region of EIF4A3, a Critical Factor for Craniofacial and Neural Development (2018) (5)
- No evidence of association between the D10S1423 locus and Alzheimer disease in Brazilian patients (2001) (5)
- POTENTIAL ROLE OF THYMOSIN IN THE TREATMENT OF AUTOIMMUNE DISEASES * (1981) (5)
- [Post exercise myalgias as presentation form of dystrophinopathy]. (2000) (5)
- Red–Green Color Vision and Luminance Contrast Sensitivity Losses in Duchenne Muscular Dystrophy (2005) (5)
- Quantitative evaluation of brain volume among elderly individuals in São Paulo, Brazil: a population-based study (2019) (5)
- Different gene expression profiles in iPSC-derived motor neurons from ALS8 patients with variable clinical courses suggest mitigating pathways for neurodegeneration. (2020) (5)
- Effect of physical therapy on joint range of motion and muscle collagen deposition in the golden retriever muscular dystrophy (GRMD) model (2009) (5)
- Effect of Serial Systemic and Intratumoral Injections of Oncolytic ZIKVBR in Mice Bearing Embryonal CNS Tumors (2021) (5)
- Longitudinal visual acuity development in ZIKV-exposed children. (2020) (5)
- Stem cell Researches in Brazil: Present and Future Challenges (2009) (5)
- When Science Is Not Enough: Fighting Genetic Disease in Brazil (2005) (5)
- Admixture/fine-mapping in Brazilians reveals a West African associated potential regulatory variant (rs114066381) with a strong female-specific effect on body mass- and fat mass-indexes (2019) (5)
- Mazindol and growth hormone inhibition in Duchenne muscular dystrophy (1987) (5)
- Production of a Thymosin α1-like Material by T-Cell Lymphomas (1984) (5)
- Creatine-kinase (CK) and pyruvate-kinase (PK) activities in cord blood of normal newborn infants: application to Duchenne muscular dystrophy screening programs. (1983) (4)
- Resistance to transplantation of spontaneous AKR lymphoma cells by substrains of AKR mice. In vivo resistance and generation of an H-2 restricted CML response. (1978) (4)
- TCF7L2 rs7903146 polymorphism association with diabetes and obesity in an elderly cohort from Brazil (2021) (4)
- Sarcolemmal distribution of abnormal dystrophin in Xp21 carriers (1993) (4)
- A rigorous approach to facilitate and guarantee the correctness of the genetic testing management in human genome information systems (2011) (4)
- Creatine-kinase and pyruvate-kinase activities in normal children: implications in Duchenne muscular dystrophy carrier detection. (1985) (4)
- Lymphocyte population of AKR-J mice. II. Effect of leukemogenesis on migration patterns, response to PHA, and expression of theta antigen. (1973) (4)
- Does germ-line deletion of the PIP gene constitute a widespread risk for cancer? (2013) (4)
- Extreme phenotypes approach to investigate host genetics and COVID-19 outcomes (2021) (4)
- Muscular Dystrophies and Protein Mutations (2007) (4)
- Synthesis and characterization of membrane immunoglobulin, Ia, and H-2 molecules of thy 1+ AKR/J lymphomas. (1977) (4)
- G.P.1.16 Extreme clinical variability in GRMD: From neonatal death to asymptomatic carriers (2007) (4)
- MUC22, HLA-A, and HLA-DOB variants and COVID-19 in resilient super-agers from Brazil (2022) (4)
- Association between the p 27 rs 2066827 variant and tumor multiplicity in patients harboring MEN 1 germline mutations (2014) (4)
- RECENT DEVELOPMENTS IN THE CHEMISTRY, BIOLOGY AND CLINICAL APPLICATIONS OF THYMOSIN (1981) (4)
- Mutations in SLC20A2 are a major cause of familial idiopathic basal ganglia calcification (2013) (4)
- Color vision phenotype in Duchenne Muscle Dystrophy (2004) (4)
- Genetic and environmental components of serum creatine kinase (CK) and pyruvate kinase (PK) in normal twins: implication for genetic risks estimates in Duchenne muscular dystrophy carriers. (1988) (4)
- Biased pathogenic assertions of loss of function variants challenge molecular diagnosis of admixed individuals (2021) (4)
- Impact of SARS-CoV-2 infection and COVID-19 on patients with inborn errors of immunity (2022) (4)
- Steroids in duchenne muscular dystrophy (1992) (4)
- COVID-19 in twins: What can we learn from them (2021) (4)
- Steroids in Duchenne dystrophy (2013) (3)
- Recurrence of COVID-19 associated with reduced T-cell responses in a monozygotic twin pair (2021) (3)
- The human serotonin transporter gene explains why some populations are more optimistic? (2009) (3)
- Rare predicted loss-of-function variants of type I IFN immunity genes are associated with life-threatening COVID-19 (2023) (3)
- Genética e ética (2002) (3)
- Tandem duplication within the DMD gene in Labrador retrievers with a mild clinical phenotype (2022) (3)
- THE EFFECT OF ANTITHYMOSIN GLOBULIN ON THE RECOVERY OF T‐CELLS IN ATS‐TREATED MICE * (1975) (3)
- Rare predicted loss-of-function variants of type I IFN immunity genes are associated with life-threatening COVID-19 (2023) (3)
- Lymphocyte trapping. Differential effects of ATS and irradiation on trapping in lymph nodes and spleen. (1976) (3)
- Inositol monophosphatase 1 (IMPA1) mutation in intellectual disability patients impairs neurogenesis but not gliogenesis (2020) (3)
- Transposon-like element in the dystrophin gene. (1993) (3)
- Establishment of a muscular dystrophy dog colony in Brazil (2000) (3)
- The molecular biology of LGMD2B — Towards the identification of the LGMD gene on chromosome 2p13 (1996) (3)
- CTG repeat length in muscle from patients affected with myotonic dystrophy (DM) (1996) (3)
- A model to estimate the expression of the dystrophin gene in muscle from female Becker muscular dystrophy carriers. (1992) (3)
- A fast method to reprogram and CRISPR/Cas9 gene editing from erythroblasts. (2018) (3)
- Admixture/fine-mapping in Brazilians reveals a West African associated potential regulatory variant (rs114066381) with a strong female-specific effect on body mass and fat mass indexes (2021) (3)
- Análise das dosagens e concentrações séricas da ciclosporina A em cães da raça Golden Retriever normais ou afetados pela distrofia muscular (2008) (3)
- p 27 variant and corticotropinoma susceptibility : a genetic and in vitro study (2014) (3)
- Centro de Estudos do Genoma Humano: Seis Anos de Experiência no Diagnóstico Molecular da Síndrome de Rett Centro de Estudos do Genoma Humano: Our Six-Year Experience on the Molecular Diagnosis of Rett Syndrome (2001) (3)
- Variants in the Kisspeptin-GnRH Pathway Modulate the Hormonal Profile and Reproductive Outcomes. (2020) (3)
- Suggestion for a possible mitigating treatment of Duchenne muscular dystrophy. (1981) (3)
- Serum CK-MB activity in progressive muscular dystrophy: is it of nosologic value? (1985) (3)
- Monozygotic twins discordant for severe clinical recurrence of COVID-19 show drastically distinct T cell responses to SARS-Cov-2 (2021) (3)
- The Role of Pericytes in Amyotrophic Lateral Sclerosis. (2019) (3)
- Loss-of-function mutation in inositol monophosphatase 1 (IMPA1) results in abnormal synchrony in resting-state EEG (2019) (3)
- Exploring a Region on Chromosome 8p23.1 Displaying Positive Selection Signals in Brazilian Admixed Populations: Additional Insights Into Predisposition to Obesity and Related Disorders (2021) (3)
- Effect of thymic hormones on interleukin 2 synthesis by lymphocytes from HIV-positive pre-AIDS subjects. (1988) (3)
- Health-Related Quality of Life and Associated Factors: Regional Differences Among Oldest-Old in Brazil (2022) (2)
- The 90 plus: longevity and COVID-19 survival (2022) (2)
- O impacto da biologia molecular na compreensao e prevencao das miopatias hereditarias (1994) (2)
- Immunoreactive thymosin α1 is associated with murine T-cell lymphomas (1984) (2)
- Psychosocial aspects and support networks associated with disability in two longevous populations in Brazil: a cross-sectional study (2022) (2)
- Association of schizophrenia and becker dystrophy ( bmd ): a susceptibility locus for schizophrenia at xp21 or an effect of the dystrophin gene in the brain (1991) (2)
- Immunoreactive thymosin alpha 1 is associated with murine T-cell lymphomas. (1984) (2)
- Reply to Coakley et al. (1989) (2)
- X-autosome translocations in females with X-linked recessive diseases (1986) (2)
- The oldest unvaccinated Covid-19 survivors in South America (2022) (2)
- Terapia Gênica: Futuro tratamento para a Esclerose Lateral Amiotrófica? Gene Therapy: Treatment Future for Amyotrophic Lateral Sclerosis? (2006) (2)
- A population-based study of inter-generational attitudes towards consanguineous marriages in north-eastern Brazil (2019) (2)
- Men are the main COVID-19 transmitters: behavior or biology? (2022) (2)
- Correction: Human Tubal-Derived Mesenchymal Stromal Cells Associated with Low Level Laser Therapy Significantly Reduces Cigarette Smoke-Induced COPD in C57BL/6 mice (2015) (2)
- Progression of myocardial fibrosis by magnetic resonance imaging in patients with Duchenne and Becker muscular dystrophy and preserved left ventricular ejection fraction - a randomized clinical trial for treatment with ACE inhibitors (2014) (2)
- Estudo imunohistoquimico da distrofina em musculo de afetados por distrofias musculares progressivas (1989) (2)
- Motor impairment in a rare form of spastic paraplegia (Spoan syndrome): a 10-year follow-up (2019) (2)
- Longitudinal 16S rRNA gut microbiota data of infant triplets show partial susceptibility to host genetics (2022) (2)
- X-linked recessive typeofpurespastic paraplegia inalarge pedigree: absence ofdetectable linkage withXg (1976) (2)
- Biallelic UBE4A loss-of-function variants cause intellectual disability and global developmental delay (2021) (2)
- Becker-type muscular dystrophy in a mother of three boys affected by Duchenne muscular dystrophy: a follow-up study (1987) (2)
- Immunoglobulin therapy ameliorates the phenotype and increases lifespan in the severely affected dystrophin–utrophin double knockout mice (2017) (2)
- Estudo genetico e clinico das amiotrofias espinhais progressivas (1996) (1)
- Genetic variability in the myostatin gene does not explain the muscle hypertrophy and clinical penetrance in myotonia congenita (2010) (1)
- Nemaline Myopathy in Brazilian Patients: Molecular and Clinical Characterization (2022) (1)
- MS‐Driven Metabolic Alterations Are Recapitulated in iPSC‐Derived Astrocytes (2021) (1)
- Stem Cells in Modeling Human Genetic Diseases (2015) (1)
- A novel RT-LAMP workflow for rapid salivary diagnostics of COVID-19 and effects of age, gender and time from symptom onset (2021) (1)
- 201 Characterization of canine embryonic germ cells: an experimental model for cell therapy. (2006) (1)
- Silent polymorphisms in the RYR1 gene do not modify the phenotype of the p.4898 I>T pathogenic mutation in central core disease: a case report (2014) (1)
- Response to: Milder course in Duchenne patients with nonsense mutations and no muscle dystrophin (2015) (1)
- Dominant or recessive mutations in the RYR1 gene causing central core myopathy in Brazilian patients (2020) (1)
- Amyotrophic Lateral Sclerosis, FUS and Protein Synthesis Defects (2022) (1)
- High proportion of new mutations and possible anticipation following molecular genetic studies in brazilian facioscapulohumeral muscular dystrophy (fshd) families (1994) (1)
- Men are the main COVID-19 transmitters: lessons from couples (2021) (1)
- Phenotypes in golden retriever (2010) (1)
- Silent polymorphisms in the RYR1 gene do not modify the phenotype of the p.4898 I>T pathogenic mutation in central core disease: a case report (2014) (1)
- Assessing Pathogenicity for Novel Mutation/Sequence Variants: The Value of Healthy Older Individuals (2012) (1)
- Association between specific dystrophin gene mutations and myocardial fibrosis by cardiovascular magnetic resonance imaging in patients with Duchenne and Becker muscular dystrophy (2014) (1)
- P.16.4 Psychoanalysis impact to facioscapulohumeral (FSHD) patients (2013) (1)
- Screening for mutations in the C-terminal region of RYR1 gene identify high frequency of autosomal recessive form of central core disease (CCD) in Brazil (2005) (1)
- Clinical Casebook A normal life without muscle dystrophin (2015) (1)
- Aspectos genéticos da Esclerose Lateral Amiotrófica Genes and Amyotrophic Lateral Sclerosis (2006) (1)
- Aspects of Color Vision in Duchenne Muscular Dystrophy (2006) (1)
- Tracking inorganic elements in GRMD blood dogs submitted to hASCs investigated by NAA technique (2016) (1)
- G.O.8 A defect in the RNA-processing protein HNRPDL causes limb-girdle muscular dystrophy 1G (LGMD1G) (2014) (1)
- Differences in Placental Histology Between Zika Virus–infected Teenagers and Older Women (2021) (1)
- G.P.215 Mild course in atypical Duchenne muscular dystrophy patients is not caused by utrophin overexpression (2015) (1)
- The spectrum of myopathies in the city of São Paulo. (1976) (1)
- Exclusion of the gene responsible for facioscapulohumeral muscular dystrophy (FSH) at 6q23-q27 (1991) (1)
- Open access: Brazilian scientists denied waivers and discounts (2022) (1)
- The akr lymphoma, aktb-1, by fluorescence-activated cell sorting and flow microfluorometry analysis. I. The coexistence of slg+ and slg- sublines. (1981) (1)
- Soluble factors of mesenchimal stem cells (FS-MSC) as a potential tool to reduce inflammation in donor’s lungs after hypovolemic shock (2021) (1)
- Subject Index, Vol. 41, 1991 (1991) (1)
- Progression of myocardial fibrosis by magnetic resonance imaging in patients with Duchenne and Becker muscular dystrophy (2013) (1)
- Changes with age of lymphoid cell population in nzb and cba mice. Abstr. (1970) (1)
- Os dilemas éticos do mapeamento genético (1995) (1)
- G.P.13.10 High frequency of polymorphisms in the RYR1 gene in Brazilian patients with centronuclear myopathy (2008) (1)
- Estimates of genetic and environmental components of serum isocitrate dehydrogenase (ICDH) in normal twins. (1991) (1)
- Alterations in Lymphocyte Populations in Tumorigenesis (1973) (1)
- A.P.14 A new in/del in the critical splicing region of the VMA21 gene causing X-linked myopathy with excessive autophagy (XMEA) (2014) (1)
- Estudos de delecoes moleculares com sondas de cdna ao longo do gene da distrofina (1995) (1)
- Genetic Analysis of Color Vision Defects in Duchenne Muscular Dystrophy and Leber's Hereditary Optic Neuropathy (2009) (1)
- Novidades sobre as distrofias musculares progressivas (1986) (1)
- 643 Familial spongiform encephalopathy with distinct clinico-pathological features associated with a novel mutation of the prion protein gene (1996) (1)
- Reply to Drs. Hunter, ten Kate, and van Essen (1992) (0)
- Adult and iPS-derived non-parenchymal cells regulate liver organoid development through differential modulation of Wnt and TGF-β (2019) (0)
- Substance P: a chemotactic factor for mesenchymal stem cells homing to the dystrophic muscle? (2011) (0)
- Screening of deletions in the dystrophin gene with the cDNA probes Cf 23 a , Cf 56 a , and Cfl 15 (2004) (0)
- [Myotonic dystrophy: study of clinico-genetic correlation in a pair of relatives (father-son)]. (1994) (0)
- Six novel point mutations in the dystrophin gene identified in Brazilian Duchenne patients (2001) (0)
- Host genetic susceptibility to ZIKV congenital syndrome: A tale of twins (2021) (0)
- Discordant congenital Zika syndrome twins show differential in vitro viral susceptibility of neural progenitor cells (2018) (0)
- Author Correction: A global effort to dissect the human genetic basis of resistance to SARS-CoV-2 infection (2021) (0)
- Study of the PTPLA gene in centronuclear myopathy (2005) (0)
- The sarcoglycan complex in autosomal recessive muscular dystrophy-LGMD2C (1996) (0)
- SPASTIC PARAPLEGIA WITH THIN CORPUS CALLOSUM AND MENTAL RETARDATION (SPG11): CLINICAL AND GENETIC STUDY IN 10 PATIENTS (2006) (0)
- Modelos animais para doenças neuromusculares humanas (1999) (0)
- Contents, Vol. 41, 1991 (1991) (0)
- Results of blind testing a method to detect carriers of the Duchenne muscular dystrophy gene. (1984) (0)
- Longitudinal study of bone mineral densitometry in young Golden Retriever dogs: Correlations with age and body weight (2006) (0)
- Associação entre mutações específicas e retardo mental severo em pacientes com distrofia de Duchenne (1999) (0)
- C.P.4.08 Screening for mutations in the dynamin 2 gene in Brazilian patients with centronuclear myopathy and Charcot-Marie-Tooth neuropathy (2007) (0)
- P.4.12 Association of two mutations in the RYR1 gene in central core disease: Recessive or modifying effect? (2013) (0)
- Looking for the 7th autosomal dominant limb-girdle muscular dystrophy gene (2004) (0)
- P3.28 Do factors released from dystrophic muscle enhance myogenic differentiation of mesenchymal stem cells from human umbilical cord tissue? (2010) (0)
- Association of Three Different Mutations in the CLCN1 Gene Modulating the Phenotype in a Consanguineous Family with Myotonia Congenita (2021) (0)
- Abstract A10: Epigenetic mechanisms in liver tumors: Gene expression analysis of epigenetic machinery in hepatoblastomas (2018) (0)
- In vivo osteogenic regenerative potential of human fallopian tube mesenchymal stem cells (2011) (0)
- Whole-genome sequencing of 1,171 elderly admixed individuals from Brazil (2022) (0)
- X-inactivation pattern in Duchenne/Becker (DMD/BMD) carriers and normal female controls (1998) (0)
- Structural variation of the malaria-associated human glycophorin A-B-E region (2020) (0)
- Small-fibre neuropathy in patients with familial Amyotrophic Lateral Sclerosis type 8. (2022) (0)
- O estudo do genoma humano contribuindo para a compreensão, o diagnóstico e a prevenção de doenças genéticas: o exemplo das doenças neuromusculares (2001) (0)
- Apolipoprotein E genotypes were not associated with intracranial atherosclerosis: a population-based autopsy study. (2022) (0)
- Correction: The oldest unvaccinated Covid-19 survivors in South America (2022) (0)
- IFNγ protects motor neurons from oxidative stress via enhanced global protein synthesis in FUS-associated Amyotrophic Lateral Sclerosis (2022) (0)
- D.P.1.03 Trying to understand the clinical variability in FSHD (2008) (0)
- P.20.10 Human adipose mesenchymal stem-cells injections in golden retriever muscular dystrophy (GRMD) dogs: a four-year follow-up (2013) (0)
- Estimate of the intrafamilial correlation for serum creatine kinase and pyruvate kinase in females at risk for Duchenne and Becker muscular dystrophies. (1991) (0)
- Down Syndrome iPSC-Derived Astrocytes Impair Neuronal Synaptogenesis and the mTOR Pathway In Vitro (2017) (0)
- Optimal HLA imputation of admixed population with dimension reduction (2023) (0)
- G.P.347 Long term follow-up of GRMD dogs transplanted with human adipose derived stem cells (2015) (0)
- Novel breast cancer predisposing candidate genes identified in Brazilian families with hereditary breast cancer (2022) (0)
- Challenges and recommendations to increasing the use of exome sequencing and whole genome sequencing for diagnosing rare diseases in Brazil: an expert perspective (2023) (0)
- Re‐expression of p27 inhibits proliferation of endometrium cells from patients with endometriosis by modulating cell cycle‐related protein expression (2010) (0)
- Newlinkage data fortheX-linked typesofmuscular dystrophy andG6PDvariants, colour blindness, (1974) (0)
- Detecção de mutação de ponto nas distrofias Xp 21: correlação com retardo mental e origem de mutações (1998) (0)
- Helping our country as women scientists (2018) (0)
- P.319 Immunoglobulin therapy modulates the severe inflammatory progression of neuromuscular disorders (2017) (0)
- Report of a young patient with brain calcifications with a novel homozygous MYORG variant. (2023) (0)
- Corrigendum: Follow-up of young adult monozygotic twins after simultaneous critical coronavirus disease 2019: a case report (2023) (0)
- Immunological evaluation of young unvaccinated patients with Turner syndrome after COVID-19 (2023) (0)
- Estudo longitudinal da densidade mineral óssea de cães Golden Retriever hígidos, portadores e afetados pela distrofia muscular (2009) (0)
- Effect of low level laser and Mesenchymal Stem Cells therapies on cigarette-induced lung inflammation in mice. (P4200) (2013) (0)
- T.P.6.04 Comparison of skeletal muscle potential of mesenchymal stem-cells from different sources injected in SJL mice (2009) (0)
- G.P.9.02 Red-green color vision impairment in Duchenne muscular dystrophy (2007) (0)
- P.4.13 Central core disease (CCD): Improving the screening for mutations in RYR1 gene (2013) (0)
- Human Fallopian Tube Mesenchymal Stromal Cells Enhance Bone Regeneration in a Xenotransplanted Model (2011) (0)
- Effect of low level laser (LLL) and mesenchymal stem cells (htMSCs) therapies on cigarette-induced lung inflammation in mice (2013) (0)
- Challenges in selecting admixture models and marker sets to infer genetic ancestry in a Brazilian admixed population (2022) (0)
- Abstract 2869: Zika virus is a potent oncolytic agent against aggressive human ependymoma (2019) (0)
- Reply to "Questioning the Use of Zika Virus Injection in Dogs with Advanced-Stage Brain Tumors". (2020) (0)
- Identification and characterization of new animal models for neuromuscular diseases (2005) (0)
- 5-33-05 Correlation of DNA expansion and systemic manifestations in myotonic dystrophy (1997) (0)
- Estudos de ligacao em psicose maniaco-depressiva com marcadores do cromossomo 21 e cromossomo x (1996) (0)
- Human Prion Protein Gene Mutation at Codon 183 Associated with an Atypical Form of Prion Disease (1998) (0)
- A preliminary study of serum beta-glucuronidase enzyme activity in progressive muscular dystrophies. (1985) (0)
- A dama do laboratório (2002) (0)
- The spectrum of myopathies in the city of São Paulo. (1977) (0)
- Transplantation of Human Adipose Mesenchymal Stem Cells in Non-Immunosuppressed GRMD Dogs is a Safe Procedure (2016) (0)
- Prognostic factors and clinical outcome in a rare form of spastic paraplegia (Spoan syndrome): a 10-year follow-up (2019) (0)
- Pericytes Extend Survival of ALS SOD1 Mice and Induce the Expression of Antioxidant Enzymes in the Murine Model and in IPSCs Derived Neuronal Cells from an ALS Patient (2017) (0)
- Transforming “Waste” into Gold: Identification of Novel Stem Cells Resources with Therapeutic Potential in Neuromuscular Disorders (2011) (0)
- Regional differences regarding the occurrence of falls and associated factors in two populations of Brazilian longevous people (2022) (0)
- N.P.1 10 A mutation in the ALS8 gene in a patient with a limb-girdle phenotype (2006) (0)
- Analysis of deletions and their relationship with clinical severity, family recurrence, and intelligence in Duchenne and Becker muscular dystrophy patients from southern Brazil (1995) (0)
- 49, xxxxy and 49, xxxxx polysomies: x-inactivation studies by 5-brdu, fish / xist and ar gene methylation (1996) (0)
- Dystrophin genetic variants and autism (2022) (0)
- Resistance and cell mediated immunity to spontaneous lymphoma cells of akr/j mice by akr/cu mice. Abstr. (1976) (0)
- G.P.18.10 A novel duplication in the SPAST gene associated to gender difference of hereditary spastic paraplegia (2007) (0)
- Meio século com ELA. [Depoimento a Marcos Pivetta] (2018) (0)
- P.225 Jagged1 as a modifier of the DMD phenotype: What is next? (2016) (0)
- Two leukemias of akr/j mice with distinct t- and b-cell character- istics. Abstr. (1975) (0)
- P.413 What motivates patients' relatives to undergo genetic testing in search of a pathogenic mutation? (2016) (0)
- Immunoglobulin therapy ameliorates the phenotype and increases lifespan in the severely affected dystrophin–utrophin double knockout mice (2017) (0)
- Estudos de delecoes moleculares em 405 pacientes com distrofia xp21 (1995) (0)
- Estimativa da frequência de distrofia muscular de Duchenne (DMD) com herança autossômica recessiva (1989) (0)
- The phenotype of chromosome 2P-linked limb-girdle muscular dystrophy (1996) (0)
- Biological properties of thymosin, a thymic hormone. Abstr. (1972) (0)
- GENERATION OF AN H-2 RESTRICTED CML RESPONSE BETWEEN AKR SUBSTRAINS (1978) (0)
- G.P.15.11 Dis-authorizing the standard suffering: A novel treatment for the disabling social virus in patients with progressive neuromuscular disorders (2007) (0)
- Assessing the risk stratification of breast cancer polygenic risk scores in two Brazilian samples (2022) (0)
- P.5.8 Why is LGMD2G rare? (2013) (0)
- Antigen-induced recruitment of lymphocytes in mice. Abstr. (1971) (0)
- The use of chromosome 5q markers for confirming the diagnosis of proximal spinal muscular atrophy. (1993) (0)
- Contaminação atrapalha uso de célula-tronco contra Parkinson:: tipo celular diferente acaba causando reação cerebral adversa. [Depoimento a Reinaldo José Lopes] (2011) (0)
- Pesquisa genética pré-natal auxilia casais. [Depoimento a Simone Biehler Mateos] (1998) (0)
- EX VIVO EXPANSION OF TUMOR INFILTRATING LYMPHOCYTES (TILS) AND CANCER STEM CELLS FROM MALIGNANT GLIOMAS (2021) (0)
- Deficiência da proteina 'ALFA'-actinina 3 (actn3) em músculo de pacientes com distrofia muscular congênita (1997) (0)
- Effect of Thymosin on in Vitro Immune Function in Patients with Rheumatoid Arthritis (1984) (0)
- The FSHD1 gene affects more often and more severely males than females in brazilian families: implications for preclinical and prenatal diagnosis (1998) (0)
- Caucasians and Africans have different susceptibility to neuritic plaques: A population-based clinicopathological study using genetic ancestry-informative markers (2012) (0)
- Lymphocyte Populations of AKR/J Mice (1973) (0)
- Cheap and Simple: Human Tube Mesenchymal Stem Cells as Feeder Layer for Human Embryonic Stem Cells (2016) (0)
- P.110 Long term follow-up of neuromuscular patients and family members submitted to psychoanalytical treatment (2017) (0)
- Human Adipose Tissue Derived Pericytes Increase Life Span in Utrntm1KedDmdmdx/J Mice (2014) (0)
- Follow-up of young adult monozygotic twins after simultaneous critical coronavirus disease 2019: A case report (2022) (0)
- Zika virus as an oncolytic therapy against brain tumors (2021) (0)
- RAB3IP and DGCR8 as a Potentially Pathogenic Novel Candidate Gene Involving in Growth Disorders (2016) (0)
- Alcohol dependence and polymorphisms in alcohol dehydrogenase 4 (2004) (0)
- Is apolipoprotein E epsilon4 allele a higher risk factor for Alzheimer's disease than for vascular dementia? A neuropathological study (2011) (0)
- 5 Thymosins (1983) (0)
- P2.11 A new form of myopathy associated with muscle hypertrophy, short stature, macroglossia and brachydactyly (2011) (0)
- G.P.191 Neuromuscular patients: Complaints are unrelated to disease (2015) (0)
- Alterations in lymphocyte populations in murine akr/j leukemia. Abstr. (1973) (0)
- Systemic Delivery of Human Mesenchymal Stromal Cells Combined with IGF-1 Enhances Muscle Functional Recovery in LAMA2dy/2j Dystrophic Mice (2012) (0)
- Estudo da correlacao entre delecoes de dna e retardo mental na distrofia de duchenne (1990) (0)
- Evaluation of the potential therapeutic use of immature stem cells in a canine model for Duchene muscular dystrophy. (2007) (0)
- Effect of leukemogenesis on lymphocyte recirculation, blastogenesis, and expression of theta antigen in akr/j mice. Abstr. (1973) (0)
- G.P.9 07 D4Z4 repeat exchanges between chromosomes 4 and 10 in different Brazilian ethnic groups: implications for FSHD prevalence? (2006) (0)
- G.P.12.13 High expression of galectins-1 and -3 in dystrophin-deficient muscles: Effect of regeneration or degeneration? (2007) (0)
- LIMB GIRDLE MUSCULAR DYSTROPHIES P.155 Clinical variability in LGMD2B: searching for modifier genes (2020) (0)
- Comparative study of human mesenchymal stem cells isolated from female reproductive tract as feeder layers for human embryonic stem cells (2011) (0)
- Happiness, Subjective Well-Being, and Life Satisfaction: A Compared Study between Long-Lived Elderly People in Northeast and Southeast Brazil (2020) (0)
- Human Endometrial-Derived Mesenchymal Stem Cells Suppress Inflammation in the Central Nervous System of EAE Mice (2011) (0)
- P4.11. Effect of AMPK/PPAR agonists and exercise training in mdx mice (2011) (0)
- P1.60 The effects of psychoanalysis in neuromuscular disorders (2011) (0)
- Publisher Correction: Discordant congenital Zika syndrome twins show differential in vitro viral susceptibility of neural progenitor cells (2018) (0)
- Purification andBiological Activity ofThymosin, aHormoneoftheThymusGland (thymus/rosette-forming cells/thymectomy/lymphoid cells/mouse) (1972) (0)
- Effects of combined thymosin and cyclophosphamide treatment on syngeneic tumor growth and host survival in balb/c mice. Abstr. (1982) (0)
- Intranasal or intraperitoneal administration of human tubal mesenchymal stem cells reduces T lymphocytes-associated lung inflammation in cigarette-induced emphysema in mice (IRC10P.415) (2015) (0)
- Author Correction: Whole-genome sequencing of 1,171 elderly admixed individuals from Brazil (2022) (0)
- G.P.16.14 Human multipotent adipose derived stem cells restore dystrophin expression of Duchenne skeletal muscle cells in vitro (2007) (0)
- P.P.4 10 Galectin-1 and -3 expression in patients with mutations in the FKRP gene (2006) (0)
- Author index (1999) (0)
- P1.63 How to deal with unexpected mutations in healthy persons (2011) (0)
- Erratum to: Population and Computational Analysis of the MGEA6 P521A Variation as a Risk Factor for Familial Idiopathic Basal Ganglia Calcification (Fahr’s Disease) (2011) (0)
- Avanços na genética são tema de nova coluna da Rádio USP. [Entrevista] (2018) (0)
- Screening of point mutations in the dystrophin locus by multiple sscp analysis (1996) (0)
- G.P.340 Nemaline myopathy: Next generation sequencing (NGS) significantly improving the molecular classification of Brazilian families (2015) (0)
- Helping our country as women scientists (2018) (0)
- Clonagem humana: contras e prós (2010) (0)
- Caracterização da proteína teletonina na distrofia muscular das cinturas tipo 2G (DMC-2G) e estudo de sua expressão nas outras formas de miopatias (2000) (0)
- G.P.81 Duchenne clinically discordant brothers: A “Ringo-like” phenotype in humans? (2012) (0)
- Em busca de alivio e cura para uma doenca cruel: o instituto de biociencias da usp pesquisa mecanismos das distrofias musculares progressivas, enquanto uma associacao e o hc dao apoio a assistencia aos atingidos. [Depoimento] (1990) (0)
- Crescimento e evolucao clinica na distrofia muscular de duchenne (dmd) (1989) (0)
- Brasileira ganha prêmio Women in Science (2001) (0)
- Variacao do quadro clinico da distrofia fascio-escapulo-umeral em 31 familias brasileiras (resumo) (1994) (0)
- Genes, consanguinidade e o nascimento de uma doença: a síndrome Spoan no sertão do Rio Grande do Norte (2008) (0)
- Modelos animais no estudo de doenças genéticas humanas (2022) (0)
- Zika elimina tumor humano avançado no sistema nervoso. [Depoimento a Karina Toledo] (2018) (0)
- Estamos mais próximos de produzir um clone humano? [Depoimento] (2009) (0)
- Projeto ENCODE e células-tronco [Depoimento] (2012) (0)
- Estudo molecular em pacientes brasileiros com craniosinostose evidencia heterogeneidade genética e clínica (1997) (0)
- Estudo do polimorfismo 577X no gene da ACTN3 na população brasileira e em pacientes com distrofia muscular de Duchenne (2000) (0)
- Limites da ciencia: quanto maior o conhecimento do homem sobre os misterios da natureza, mais profunda a preocupacao em relacao ao uso dessas informacoes. [Depoimento] (1996) (0)
- Modelos animais para doenças neuromusculares humanas Animal models for human neuromuscular diseases (2006) (0)
- Distrofina nas distrofias musculares progressivas (1989) (0)
- Efeito hemodinâmico da manobra de air stacking em pacientes com distrofia muscular (2010) (0)
- Estudos de ligação em famílias com ataxia espinocerebelar (1994) (0)
- Distrofia miotônica: estudo da correlação clínico-genética em um par familiar (pai-filho) (1994) (0)
- Random changepoint segmented regression with smooth transition (2020) (0)
- Nistagmo congênito ligado ao cromossomo X225-27: redução da região de ligação (2006) (0)
- Vantagem do heterozigoto para o gene MTHFR: mulheres heterozigotas para o polimorfismo C677T do gene MTHFR apresentam um risco menor de terem crianças com fenda labial com ou sem palato fendido isolada? (1999) (0)
- Mais um centro diagnostico de hm: agora em sao paulo. [Entrevista] (1995) (0)
- Delecoes do promotor muscular do gene da distrofina causando um fenotipo grave em dois casos (1995) (0)
- Freqüência de heterozigotos para 'delta'F508 em indivíduos sem clínica sugestiva de FC nascidos no Maranhão (2000) (0)
- Os jovens talentos não querem voltar. [Depoimento a Paula Ferreira] (2019) (0)
- Pesquisas de primeiríssima linha (2004) (0)
- Detecção de 5 mutações no gene fbn-1 em pacientes com síndrome de Marfan (1995) (0)
- Clonagem, células-tronco e bancos de cordão umbilical (2004) (0)
- Unesco premia geneticista da USP. [Depoimento a Eduardo Portanova] (2001) (0)
- Estudo busca origem hereditaria de esquizofrenia . [Depoimento a martha san juan franca] (1993) (0)
- Existe hipertrofia de panturrilhas em heterozigotas quanto ao gene da distrofia muscular de duchenne (dmd) (1991) (0)
- COMPARISON OF SERUM PYRUVATE-KHIASE (PK) AND CREATINE-PHOSPHOKIHASE (CPK) IN CARRIER DETECTION OF X-LINKED MUSCULAR DYSTROPHIES (1977) (0)
- Experimento com macacos reabre debate sobre clonagem humana. [Depoimento a Renato Grandelle] (2018) (0)
- Genes e consangüinidade: a síndrome Spoan (2008) (0)
- Phenotypic heterogeneity in amyotrophic lateral sclerosis type 8 and modifying mechanisms of neurodegeneration (2021) (0)
- Identificação de mutações de ponto no gene da distrofia tipo duchenne (1994) (0)
- Association of specific mutations and severe mental retardation in Duchenne patients (1999) (0)
- Distrofia muscular de cinturas (DMC) tipo 2F: caracterização de mutações em famílias brasileiras (1998) (0)
- P1.51 Exon-level expression profiling in FSHD (2010) (0)
- Recurrent basque and brailian mutation in LGMD2A (Calpainopathy) brazilian families (2001) (0)
- CHROMOSOME-STUDIES IN MALES AFFECTED BY DUCHENNE OR BECKER MUSCULAR-DYSTROPHY (1990) (0)
- P.150: Nemaline myopathy: Clinical, pathological, muscle imaging and molecular characterization in a cohort of Brazilian patients (2016) (0)
- Efeitos da ciclosporina a sobre a função renal de cães da raça Golden Retriever normais ou afetados pela distrofia muscular (2008) (0)
- G.O.6 Sjl dystrophic mice express large amount of human muscle proteins following systemic delivery of human adipose-derived stem cells (2008) (0)
- O.2 Dystrophin-deficient muscular dystrophy in a pedigree of Labrador retrievers without obvious clinical manifestations (2011) (0)
- Genetic variability in COVID-19-related genes in the Brazilian population (2021) (0)
- P1.24 Microarray analysis of two exceptional Golden Retriever Muscular Dystrophy (GRMD) dogs with no dystrophin and a mild course (2011) (0)
- Muscular dystrophies; same mutation but different clinical courses? The next challenge (2001) (0)
- P3.26 Local and systemic transplantation of human adipose-derived stem cells into the GRMD dog (2010) (0)
- P.136 Controversial preclinical results in neuromuscular animal models: Are they related to differences in mesenchymal stromal cells (MSCs) secretome? (2016) (0)
- Para conhecer mais o DNA do homem. [Depoimento] (2000) (0)
- Haplotypes of single cancer driver genes and their local ancestry in a highly admixed long-lived population of Northeast Brazil (2022) (0)
- G.P.307 Skype and psychoanalysis: An approach to circumvent patients locomotion difficulties (2014) (0)
- O.1 Pre-clinical studies with human adult mesenchymal stem-cells: What have we learned? (2011) (0)
- Paternal inheritance or different mutations in maternally related patients occurs in 3% of familial Duchenne (DMD) genealogies (1998) (0)
- Immunogenetics of HLA-B: SNP, allele, and haplotype diversity in populations from different continents and ancestry backgrounds. (2023) (0)
- CONGENITAL MYOPATHIES (CNM) P.141High frequency of manifesting carriers in the recessive X-linked myotubular myopathy (2018) (0)
- Uma nova forma de atrofia muscular espinhal distal de herança recessiva ligada ao cromossomo X (2003) (0)
- With Muscular Dystrophy Myocardial Delayed Enhancement by Magnetic Resonance Imaging in Patients (2011) (0)
- Origin and age of the causative mutations in KLC2, IMPA1, MED25 and WNT7A unravelled through Brazilian admixed populations (2018) (0)
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