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Lista de obras de Mayana Zatz

10q23.31 microduplication encompassing decreases mTOR signalling activity and is associated with autosomal dominant primary microcephaly

artículo científico publicado en 2018

3D bioprinting of liver spheroids derived from human induced pluripotent stem cells sustain liver function and viability in vitro

artículo científico publicado en 2019

<scp>MS</scp> ‐Driven Metabolic Alterations Are Recapitulated in <scp>iPSC</scp> ‐Derived Astrocytes

artículo científico publicado en 2022

A Caucasian Family with the 3271 Mutation in Mitochondrial DNA

scientific article published on 01 August 1994

A New Method for the Analysis of Age Trends in CPK Levels with Application to Duchenne Muscular Dystrophy ⬇️

artículo científico publicado el 1 de enero de 1979

A common founder for amyotrophic lateral sclerosis type 8 (ALS8) in the Brazilian population

article

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

artículo científico publicado en 1995

A defect in the RNA-processing protein HNRPDL causes limb-girdle muscular dystrophy 1G (LGMD1G).

artículo científico publicado en 2014

A deletion including the brain promoter of the Duchenne muscular dystrophy gene is not associated with mental retardation

artículo científico publicado el 1 de enero de 1992

A fast method to reprogram and CRISPR/Cas9 gene editing from erythroblasts

article

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

artículo científico publicado en 1998

A gene which causes severe ocular alterations and occipital encephalocele (Knobloch syndrome) is mapped to 21q22.3.

artículo científico publicado en 1996

A malignant form of neurogenic muscular atrophy in adults, with dominant inheritance

artículo científico publicado el 1 de diciembre de 1971

A model to estimate the expression of the dystrophin gene in muscle from female Becker muscular dystrophy carriers ⬇️

artículo científico publicado el 1 de julio de 1992

A multi-exonic SPG4 duplication underlies sex-dependent penetrance of hereditary spastic paraplegia in a large Brazilian pedigree

scientific article published on 26 September 2007

A mutation in the vesicle-trafficking protein VAPB causes late-onset spinal muscular atrophy and amyotrophic lateral sclerosis

artículo científico publicado en 2004

A new evidence for the maintenance of the sarcoglycan complex in muscle sarcolemma in spite of the primary absence of δ-SG protein

article

A new form of autosomal dominant limb-girdle muscular dystrophy (LGMD1G) with progressive fingers and toes flexion limitation maps to chromosome 4p21.

artículo científico publicado en 2004

A new locus for recessive distal spinal muscular atrophy at Xq13.1-q21.

artículo científico publicado en 2004

A normal life without muscle dystrophin

artículo científico publicado en 2015

A novel COL1A1 gene-splicing mutation (c.1875+1G>C) in a Brazilian patient with osteogenesis imperfecta

artículo científico publicado en 2009

A novel locus for late onset amyotrophic lateral sclerosis/motor neurone disease variant at 20q13

artículo científico publicado en 2004

A novel stop codon mutation in the PMP22 gene associated with a variable phenotype

artículo científico publicado en 2004

A population-based study of inter-generational attitudes towards consanguineous marriages in north-eastern Brazil

scientific article published on 13 March 2019

A rigorous approach to facilitate and guarantee the correctness of the genetic testing management in human genome information systems ⬇️

artículo científico publicado el 22 de diciembre de 2011

Absence of calpain 3 in a form of limb-girdle muscular dystrophy (LGMD2A).

artículo científico publicado en 1997

Absence of correlation between skewed X inactivation in blood and serum creatine-kinase levels in Duchenne/Becker female carriers

artículo científico publicado en 1998

Absence of correlation between utrophin localization and quantity and the clinical severity in Duchenne/Becker dystrophies

artículo científico publicado en 1995

Additional dystrophin fragment in Becker muscular dystrophy patients: correlation with the pattern of DNA deletion

scientific article published on 01 October 1992

Adult and iPS-derived non-parenchymal cells regulate liver organoid development through differential modulation of Wnt and TGF-β

artículo científico publicado en 2019

African ancestry protects against Alzheimer's disease-related neuropathology

artículo científico publicado en 2011

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

scientific article published on 20 June 2019

Analysis of IL-1alpha, IL-1beta, and IL-1RA [correction of IL-RA] polymorphisms in dysthymia

artículo científico publicado en 2004

Analysis of the CTG repeat in skeletal muscle of young and adult myotonic dystrophy patients: when does the expansion occur?

scientific article published on 01 March 1995

Analysis of the disease risk locus DXS1047 polymorphism in Brazilian Alzheimer patients

artículo científico publicado en 2000

Apparent association of mental retardation and specific patterns of deletions screened with probes cf56a and cf23a in Duchenne muscular dystrophy

artículo científico publicado en 1991

Assessing pathogenicity for novel mutation/sequence variants: the value of healthy older individuals

artículo científico publicado en 2012

Assessment of the 50-kDa dystrophin-associated glycoprotein in Brazilian patients with severe childhood autosomal recessive muscular dystrophy.

artículo científico publicado en 1994

Association between specific dystrophin gene mutations and myocardial fibrosis by cardiovascular magnetic resonance imaging in patients with Duchenne and Becker muscular dystrophy

artículo científico publicado en 2014

Association between the p27 rs2066827 variant and tumor multiplicity in patients harboring MEN1 germline mutations.

artículo científico publicado en 2014

Association of MAO A polymorphism and alcoholism in Brazilian females

article

Association of genetic variants in alcohol dehydrogenase 4 with alcohol dependence in Brazilian patients

artículo científico publicado en 2005

Asymptomatic carriers for homozygous novel mutations in the FKRP gene: the other end of the spectrum

article

Autosomal dominant (AD) pure spastic paraplegia (HSP) linked to locus SPG4 affects almost exclusively males in a large pedigree

artículo científico publicado en 2002

Autosomal recessive limb-girdle muscular dystrophy, LGMD2F, is caused by a mutation in the delta-sarcoglycan gene

artículo científico publicado en 1996

Begnign duchenne muscular dystrophy in a patient with growth hormone deficiency ⬇️

artículo científico publicado el 1 de enero de 1981

Benign Duchenne muscular dystrophy in a patient with growth hormone deficiency: a five years follow-up

artículo científico publicado en 1986

Brazilian family with pure autosomal dominant spastic paraplegia maps to 8q: Analysis of muscle beta 1 syntrophin

article

CFTR, PRSS1 and SPINK1 mutations in the development of pancreatitis in Brazilian patients

artículo científico publicado el 1 de septiembre de 2003

CTG repeat length in muscle from patients affected with myotonic dystrophy (DM)

artículo científico publicado en 1996

Calpainopathy: how broad is the spectrum of clinical variability?

artículo científico publicado en 2003

Calpains and disease

artículo científico publicado en 2005

Caucasians and Africans have different susceptibility to neuritic plaques: A population-based clinicopathological study using genetic ancestry-informative markers

Caveolin-3 in muscular dystrophy

artículo científico publicado en 1998

Central core disease due to recessive mutations in RYR1 gene: is it more common than described?

artículo científico publicado en 2007

Clinical aspects of hereditary spastic paraplegia 76 and novel CAPN1 mutations

scientific article published on 10 September 2018

Clinical symptoms in a female carrier of Duchenne muscular dystrophy

artículo científico publicado el 1 de diciembre de 1973

Clinical variability in calpainopathy: what makes the difference?

artículo científico publicado en 2002

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)

artículo científico publicado en 2000

Combined effect of AMPK/PPAR agonists and exercise training in mdx mice functional performance

artículo científico publicado en 2012

Complexity of the 5' Untranslated Region of EIF4A3, a Critical Factor for Craniofacial and Neural Development.

artículo científico publicado en 2018

Comprehensive assessment of the disputed RET Y791F variant shows no association with medullary thyroid carcinoma susceptibility

artículo científico publicado en 2014

Concordant utrophin upregulation in phenotypically discordant DMD/BMD brothers

artículo científico publicado en 2016

Congenital muscular dystrophy with cerebral white matter hypodensity. Correlation of clinical features and merosin deficiency

scientific article published on 01 January 1996

Contamination of mesenchymal stem-cells with fibroblasts accelerates neurodegeneration in an experimental model of Parkinson's disease

artículo científico publicado en 2011

Correction: Human Tubal-Derived Mesenchymal Stromal Cells Associated with Low Level Laser Therapy Significantly Reduces Cigarette Smoke-Induced COPD in C57BL/6 mice

artículo científico publicado en 2015

Cosegregation of schizophrenia with Becker muscular dystrophy: susceptibility locus for schizophrenia at Xp21 or an effect of the dystrophin gene in the brain?

artículo científico publicado en 1993

Creatine-kinase (CK) and pyruvate-kinase (PK) activities in cord blood of normal newborn infants: application to Duchenne muscular dystrophy screening programs

artículo científico publicado en 1983

Creatine-kinase and pyruvate-kinase activities in normal children: implications in Duchenne muscular dystrophy carrier detection

artículo científico publicado en 1985

Creatine-phosphokinase (CPK) activity in relatives of patients with X-linked muscular dystrophies: a Brazilian study

artículo científico publicado el 1 de junio de 1976

Deepening a Simple Question: Can MSCs Be Used to Treat Cancer?

artículo científico publicado en 2017

Deficiency of merosin (laminin M or alpha 2) in congenital muscular dystrophy associated with cerebral white matter alterations

scientific article published on 01 December 1995

Deficiency of muscle alpha-actinin-3 is compatible with high muscle performance

artículo científico publicado en 2003

Deficiency of α-Actinin-3 (ACTN3) Occurs in Different Forms of Muscular Dystrophy

artículo científico publicado en 1997

Description of a new mutation and characterization ofFGFR1, FGFR2, andFGFR3 mutations among Brazilian patients with syndromic craniosynostoses ⬇️

artículo científico publicado el 7 de julio de 1998

Development of a comprehensive noninvasive prenatal test

artículo científico publicado en 2018

Diabetes is Not Associated with Alzheimer's Disease Neuropathology.

artículo científico publicado en 2017

Diagnosis of limb-girdle muscular dystrophy 2A by immunohistochemical techniques

artículo científico publicado en 2007

Different Donors Mesenchymal Stromal Cells Secretomes Reveal Heterogeneous Profile of Relevance for Therapeutic Use.

artículo científico publicado en 2016

Different behavior in the paternally vs. maternally inherited mutated allele in Brazilian Machado-Joseph (MJD1) Families

article

Different gene expression profiles in iPSC-derived motor neurons from ALS8 patients with variable clinical courses suggest mitigating pathways for neurodegeneration

artículo científico publicado en 2020

Different mosaicism frequencies for proximal and distal Duchenne muscular dystrophy (DMD) mutations indicate difference in etiology and recurrence risk

artículo científico publicado en 1992

Different origins of mutations at the Machado-Joseph locus (MJD1)

artículo científico publicado en 1996

Differential gene expression elicited by ZIKV infection in trophoblasts from congenital Zika syndrome discordant twins

artículo científico publicado en 2020

Discordant congenital Zika syndrome twins show differential in vitro viral susceptibility of neural progenitor cells

artículo científico publicado en 2018

Does germ-line deletion of the PIP gene constitute a widespread risk for cancer?

artículo científico publicado en 2013

Down Syndrome iPSC-Derived Astrocytes Impair Neuronal Synaptogenesis and the mTOR Pathway In Vitro

artículo científico publicado en 2017

Downregulation of VAPB expression in motor neurons derived from induced pluripotent stem cells of ALS8 patients

artículo científico publicado en 2011

Duchenne muscular dystrophy in a girl with a 45,X/46,XX/47,XXX chromosome constitution

artículo científico publicado en 1986

Duchenne muscular dystrophy: comparison among different racial groups

scientific article published on 01 December 1987

Duchenne-like muscular dystrophy in the Arabs

artículo científico publicado en 1990

Dystrophin Is Required for Proper Functioning of Luminance and Red-Green Cone Opponent Mechanisms in the Human Retina

artículo científico publicado en 2016

Dystrophin immunofluorescence pattern in manifesting and asymptomatic carriers of Duchenne's and Becker muscular dystrophies of different ages ⬇️

artículo científico publicado el 1 de enero de 1991

Dystrophin immunostaining in muscles from patients with different types of muscular dystrophy: a Brazilian study

scientific article published on 01 September 1990

Early transplantation of human immature dental pulp stem cells from baby teeth to golden retriever muscular dystrophy (GRMD) dogs: Local or systemic?

artículo científico publicado en 2008

Effect of age on the detection rate in Duchenne muscular dystrophy

artículo científico publicado en 1980

Effect of mazindol on growth hormone levels in patients with Duchenne muscular dystrophy

artículo científico publicado en 1988

Effects of genetic counseling on Duchenne muscular dystrophy families in Brazil.

artículo científico publicado en 1983

Efficient exon skipping of SGCG mutations mediated by phosphorodiamidate morpholino oligomers.

artículo científico publicado en 2018

Equal proportions of affected cells in muscle and blood of a mosaic carrier of facioscapulohumeral muscular dystrophy

artículo científico publicado en 2005

Estimate of germinal mosaicism in Duchenne muscular dystrophy

artículo científico publicado en 1990

Estimate of the intrafamilial correlation for serum creatine kinase and pyruvate kinase in females at risk for Duchenne and Becker muscular dystrophies

artículo científico publicado en 1991

Estimate of the proportion of Duchenne muscular dystrophy with autosomal recessive inheritance

artículo científico publicado en 1989

Estimates of genetic and environmental components of serum isocitrate dehydrogenase (ICDH) in normal twins

artículo científico publicado en 1991

Evaluation of carrier detection rates for Duchenne and Becker muscular dystrophies using serum creatine-kinase (CK) and pyruvate-kinase (PK) through discriminant analysis

artículo científico publicado en 1986

Evaluation of the potential therapeutic use of immature stem cells in a canine model for Duchene muscular dystrophy

scholarly article by Ce Ambrosio et al published 16 May 2007 in Journal of Stem Cells & Regenerative Medicine

Exclusion of the 15q locus as a candidate gene for severe childhood autosomal recessive Duchenne-like muscular dystrophy in Brazilian families

article

Exclusion of the gene responsible for facioscapulohumeral muscular dystrophy (FSH) at 6q23-q27.

artículo científico publicado en 1991

Exomic variants of an elderly cohort of Brazilians in the ABraOM database

artículo científico publicado en 2017

Facioscapulohumeral (FSHD1) and other forms of muscular dystrophy in the same family: is there more in muscular dystrophy than meets the eye?

artículo científico publicado en 2002

Facioscapulohumeral muscular dystrophy: aspects of genetic counselling, acceptance of preclinical diagnosis, and fitness

artículo científico publicado en 1993

Familial occurrence of Duchenne dystrophy through paternal lines in four families

artículo científico publicado en 1991

Familial spongiform encephalopathy associated with a novel prion protein gene mutation ⬇️

artículo científico publicado el 1 de agosto de 1997

Fine mapping and clinical reevaluation of a Brazilian pedigree with a severe form of X-linked mental retardation associated with other neurological dysfunction

artículo científico publicado en 2004

Further evidence for a fourth gene causing X-linked pure spastic paraplegia

artículo científico publicado en 2002

Further evidence for the organisation of the four sarcoglycans proteins within the dystrophin–glycoprotein complex

article

Gene expression profile of mesenchymal stem cells from paired umbilical cord units: cord is different from blood

artículo científico publicado en 2009

Genetic and Physical Mapping at the Limb-Girdle Muscular Dystrophy Locus (LGMD2B) on Chromosome 2p

article published in 1996

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

scientific article published on 01 October 1988

Genetic aspects of adolescent idiopathic scoliosis in a family with multiple affected members: a research article

artículo científico publicado en 2010

Genetic counseling for childless women at risk for Duchenne muscular dystrophy

artículo científico publicado en 1999

Genetic heterogeneity for Duchenne-like muscular dystrophy (DLMD) based on linkage and 50 DAG analysis.

artículo científico publicado en 1993

Genetic variability in the myostatin gene does not explain the muscle hypertrophy and clinical penetrance in myotonia congenita

scientific article published on 01 March 2010

Genotype-phenotype correlations in 35 Brazilian families with sarcoglycanopathies including the description of three novel mutations

artículo científico publicado en 2003

Germline variants of Brazilian women with breast cancer and detection of a novel pathogenic ATM deletion in early-onset breast cancer

artículo científico publicado en 2020

Global voices of science. When science is not enough: fighting genetic disease in Brazil

scientific article published on 01 April 2005

H-3 Our social commitment: being just a scientist is not enough

artículo científico publicado en 2011

HLA-G genetic diversity and evolutive aspects in worldwide populations

scientific article published on 29 November 2021

Half the dystrophin gene is apparently enough for a mild clinical course: confirmation of its potential use for gene therapy.

artículo científico publicado en 1994

Helping our country as women scientists

scientific article published on 01 September 2018

High proportion of new mutations and possible anticipation in Brazilian facioscapulohumeral muscular dystrophy families

artículo científico publicado en 1995

High serum endostatin levels in Down syndrome: implications for improved treatment and prevention of solid tumours

artículo científico publicado en 2001

Homozygosity for autosomal dominant facioscapulohumeral muscular dystrophy (FSHD) does not result in a more severe phenotype

artículo científico publicado en 2004

Homozygous missense mutation in MED25 segregates with syndromic intellectual disability in a large consanguineous family

artículo científico publicado en 2014

How the magnitude of clinical severity and recurrence risk affects reproductive decisions in adult males with different forms of progressive muscular dystrophy

artículo científico publicado en 1998

Human Adipose-Derived CD146+ Stem Cells Increase Life Span of a Muscular Dystrophy Mouse Model More Efficiently than Mesenchymal Stromal Cells

scientific article published on 30 July 2018

Human Mesenchymal Stromal Cells Transplantation May Enhance or Inhibit 4T1 Murine Breast Adenocarcinoma through Different Approaches

artículo científico publicado en 2015

Human Tubal-Derived Mesenchymal Stromal Cells Associated with Low Level Laser Therapy Significantly Reduces Cigarette Smoke-Induced COPD in C57BL/6 mice

artículo científico publicado en 2015

Human adipose-derived mesenchymal stromal cells injected systemically into GRMD dogs without immunosuppression are able to reach the host muscle and express human dystrophin

artículo científico publicado en 2012

Human endometrial-derived mesenchymal stem cells suppress inflammation in the central nervous system of EAE mice

artículo científico publicado en 2012

Human fallopian tube mesenchymal stromal cells enhance bone regeneration in a xenotransplanted model

artículo científico publicado en 2012

Human fallopian tube: a new source of multipotent adult mesenchymal stem cells discarded in surgical procedures

scientific article published on 18 June 2009

Human multipotent adipose-derived stem cells restore dystrophin expression of Duchenne skeletal-muscle cells in vitro

artículo científico publicado en 2008

Hypothesis: the existence of embryonic and adult isoforms of mRNA dystrophin provides an explanation for unusual clinical findings

artículo científico publicado en 1989

Identical twins with Idiopathic Basal Ganglia Calcification ("Fahr's Disease") presenting with a remarkably similar pattern of neuroimaging findings

artículo científico publicado en 2008

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

artículo científico publicado en 1991

Immunoglobulin therapy ameliorates the phenotype and increases lifespan in the severely affected dystrophin-utrophin double knockout mice

artículo científico publicado en 2017

Immunological methods for the analysis of protein expression in neuromuscular diseases

artículo científico publicado en 2003

Inositol monophosphatase 1 (IMPA1) mutation in intellectual disability patients impairs neurogenesis but not gliogenesis

artículo científico publicado en 2020

Intrafamilial variability in dystrophin abundance correlated with difference in the severity of the phenotype

artículo científico publicado en 1993

Investigation on genetic heterogeneity in Duchenne muscular dystrophy

artículo científico publicado en 1986

Is apolipoprotein E epsilon4 allele a higher risk factor for Alzheimer's disease than for vascular dementia? A neuropathological study

scholarly article by Claudia Suemoto et al published July 2011 in Alzheimer's and Dementia

Is dystrophin always altered in Becker muscular dystrophy patients?

artículo científico publicado en 1995

Is the maintainance of the C-terminus domain of dystrophin enough to ensure a milder Becker muscular dystrophy phenotype?

scientific article published on 01 January 1993

Isolation, characterization, and differentiation potential of canine adipose-derived stem cells

artículo científico publicado en 2009

Jagged 1 Rescues the Duchenne Muscular Dystrophy Phenotype

artículo científico publicado en 2015

Jagged1 as a modifier of the DMD phenotype: What is next?

Knobloch syndrome in a large Brazilian consanguineous family: Confirmation of autosomal recessive inheritance

article

Lack of association between the brain-derived neurotrophin factor (C-270T) polymorphism and late-onset Alzheimer's disease (LOAD) in Brazilian patients

artículo científico publicado en 2004

Lack of the C-terminal domain of nebulin in a patient with nemaline myopathy

artículo científico publicado en 2002

Large-scale population analysis challenges the current criteria for the molecular diagnosis of fascioscapulohumeral muscular dystrophy

artículo científico publicado en 2012

Limb-girdle muscular dystrophy type 2G is caused by mutations in the gene encoding the sarcomeric protein telethonin

artículo científico publicado en 2000

Limb-girdle muscular dystrophy: one gene with different phenotypes, one phenotype with different genes

artículo científico publicado en 2000

Limb-girdle syndrome: a genetic study of 22 large Brazilian families comparison with X-linked Duchenne and Becker dystrophies ⬇️

artículo científico publicado el 1 de mayo de 1991

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

artículo científico publicado en 1996

Linkage analysis in families with autosomal recessive limb-girdle muscular dystrophy (LGMD) and 6q probes flanking the dystrophin-related sequence.

artículo científico publicado en 1991

Longitudinal 16S rRNA gut microbiota data of infant triplets show partial susceptibility to host genetics

artículo científico publicado en 2022

Longitudinal visual acuity development in ZIKV-exposed children

artículo científico publicado en 2020

Loss-of-function mutation in inositol monophosphatase 1 (IMPA1) results in abnormal synchrony in resting-state EEG

Main clinical features of the three mapped autosomal recessive limb-girdle muscular dystrophies and estimated proportion of each form in 13 Brazilian families.

artículo científico publicado en 1996

Mazindol and growth hormone inhibition in Duchenne muscular dystrophy

artículo científico publicado en 1987

Mechanistic Insights of Astrocyte-Mediated Hyperactive Autophagy and Loss of Motor Neuron Function in SOD1L39R Linked Amyotrophic Lateral Sclerosis

scientific article published on 16 July 2020

Mesenchymal Stem Cells Derived From Canine Umbilical Cord Vein—A Novel Source for Cell Therapy Studies

scholarly article by Eder Zucconi et al published March 2010 in Stem Cells and Development

Mesenchymal stem cells from umbilical cord: Do not discard the cord!

artículo científico publicado en 2007

Mild and severe muscular dystrophy caused by a single gamma-sarcoglycan mutation

artículo científico publicado en 1996

Molecular characterization of further dystrophin gene microsatellites

artículo científico publicado en 1995

Monoamine oxidase a polymorphism in Brazilian patients: risk factor for late-onset Alzheimer's disease?

artículo científico publicado en 2005

Motor and functional evaluation of patients with spastic paraplegia, optic atrophy, and neuropathy (SPOAN)

artículo científico publicado en 2010

Motor impairment in a rare form of spastic paraplegia (Spoan syndrome): a 10-year follow-up

artículo científico publicado en 2019

Multipotent Stem Cells from Umbilical Cord: Cord Is Richer than Blood!

artículo científico publicado en 2007

Muscle protein alterations in LGMD2I patients with different mutations in the Fukutin-related protein gene

artículo científico publicado en 2008

Muscular dystrophy in a family of Labrador Retrievers with no muscle dystrophin and a mild phenotype

artículo científico publicado en 2015

Muscular dystrophy-related quantitative and chemical changes in adenohypophysis GH-cells in golden retrievers

artículo científico publicado en 2007

Mutation analysis in the FKRP gene provides an explanation for a rare cause of intrafamilial clinical variability in LGMD2I.

artículo científico publicado en 2006

Mutation in the Scyl1 gene encoding amino-terminal kinase-like protein causes a recessive form of spinocerebellar neurodegeneration

artículo científico publicado en 2007

Mutations in SLC20A2 are a major cause of familial idiopathic basal ganglia calcification

artículo científico publicado en 2013

Mutations in the KIAA0196 gene at the SPG8 locus cause hereditary spastic paraplegia

artículo científico publicado en 2007

Mutations in the caveolin-3 gene: When are they pathogenic?

artículo científico publicado en 2001

Mutations in the gene encoding PDGF-B cause brain calcifications in humans and mice

artículo científico publicado en 2013

Myocardial Fibrosis Progression in Duchenne and Becker Muscular Dystrophy: A Randomized Clinical Trial

artículo científico

Myocardial delayed enhancement by magnetic resonance imaging in patients with muscular dystrophy

artículo científico publicado en 2007

Myotonic dystrophy: genetic, clinical, and molecular analysis of patients from 41 Brazilian families.

artículo científico publicado en 1995

Nerve conduction studies in spastic paraplegia, optic atrophy, and neuropathy (SPOAN) syndrome

artículo científico publicado en 2013

Neuromuscular disorders: genes, genetic counseling and therapeutic trials

scientific article published on July 2016

Neuropathological diagnoses and clinical correlates in older adults in Brazil: A cross-sectional study.

artículo científico publicado en 2017

Nocturnal rhythm of growth hormone in Duchenne patients: effect of different doses of mazindol and/or cyproheptadine

artículo científico publicado en 1989

Novel point mutations in the dystrophin gene

artículo científico publicado en 1997

Origin and age of the causative mutations in KLC2, IMPA1, MED25 and WNT7A unravelled through Brazilian admixed populations

artículo científico publicado en 2018

Overexpression of KLC2 due to a homozygous deletion in the non-coding region causes SPOAN syndrome.

artículo científico publicado en 2015

P1.24 Microarray analysis of two exceptional Golden Retriever Muscular Dystrophy (GRMD) dogs with no dystrophin and a mild course

scholarly article by N.M. Vieira et al published October 2011 in Neuromuscular Disorders

Paracoccidioidomycosis Associated With a Heterozygous STAT4 Mutation and Impaired IFN-γ Immunity

artículo científico publicado en 2017

Paternal inheritance or different mutations in maternally related patients occur in about 3% of Duchenne familial cases

artículo científico publicado en 1998

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

artículo científico publicado en 2017

Pfeiffer mutation in an apert patient: How wide is the spectrum of variability due to mutations in the FGFR2 gene? ⬇️

artículo científico publicado el 8 de agosto de 1997

Phenotypes in golden retriever

artículo científico publicado en 2009

Point mutation in a Becker muscular dystrophy patient

artículo científico publicado en 1993

Population and computational analysis of the MGEA6 P521A variation as a risk factor for familial idiopathic basal ganglia calcification (Fahr's disease)

scientific article published on 14 September 2010

Preclinical studies with umbilical cord mesenchymal stromal cells in different animal models for muscular dystrophy

artículo científico publicado en 2011

Prenatal diagnosis in laminin alpha2 chain (merosin)-deficient congenital muscular dystrophy: a collective experience of five international centers.

artículo científico publicado en 2005

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.

artículo científico publicado en 2014

Progression of myocardial fibrosis by magnetic resonance imaging in patients with Duchenne and Becker muscular dystrophy.

artículo científico publicado en 2013

Protein and DNA analysis for the prenatal diagnosis of alpha2-laminin-deficient congenital muscular dystrophy

artículo científico publicado en 2004

Protein defects in neuromuscular diseases ⬇️

artículo científico publicado el 22 de abril de 2003

Publisher Correction: Discordant congenital Zika syndrome twins show differential in vitro viral susceptibility of neural progenitor cells

artículo científico publicado en 2018

Pyruvate-kinase (PK) and creatine-kinase (CK) in normal pregnancy and its implication in genetic counseling of Duchenne muscular dystrophy (DMD)

scientific article published on 01 November 1982

Quantitative evaluation of brain volume among elderly individuals in São Paulo, Brazil: a population-based study

artículo científico publicado en 2019

Racial effect on serum creatine-kinase: implications for estimation of heterozygosity risks for females at-risk for Duchenne dystrophy

artículo científico publicado en 1989

Random changepoint segmented regression with smooth transition

artículo científico publicado en 2020

Rare Variants in the Epithelial Cadherin Gene Underlying the Genetic Etiology of Nonsyndromic Cleft Lip with or without Cleft Palate

artículo científico publicado en 2015

Rare variants in SOS2 and LZTR1 are associated with Noonan syndrome.

artículo científico publicado en 2015

Red-Green Color Vision Impairment in Duchenne Muscular Dystrophy

artículo científico publicado en 2008

Red-green color vision impairment in Duchenne muscular dystrophy

artículo científico publicado en 2007

Reevaluation of a large family defines a new locus for X-linked recessive pure spastic paraplegia (SPG34) on chromosome Xq25

artículo científico publicado en 2008

Relation between height and clinical course in Duchenne muscular dystrophy ⬇️

artículo científico publicado el 1 de febrero de 1988

Reply to "Questioning the Use of Zika Virus Injection in Dogs with Advanced-Stage Brain Tumors"

artículo científico publicado en 2020

Repression of phosphatidylinositol transfer protein α ameliorates the pathology of Duchenne muscular dystrophy

artículo científico publicado en 2017

Reproductive fitness and frequency of new mutations in Becker muscular dystrophy: implications for genetic risk estimates ⬇️

artículo científico publicado el 1 de abril de 1991

Response to: Milder course in Duchenne patients with nonsense mutations and no muscle dystrophin

artículo científico publicado en 2015

Results of blind testing a method to detect carriers of the Duchenne muscular dystrophy gene.

artículo científico publicado en 1984

Ringo: discordance between the molecular and clinical manifestation in a golden retriever muscular dystrophy dog

artículo científico publicado en 2009

Rod distribution and muscle fiber type modification in the progression of nemaline myopathy

scientific article published on 01 March 2003

SJL dystrophic mice express a significant amount of human muscle proteins following systemic delivery of human adipose-derived stromal cells without immunosuppression

artículo científico publicado en 2008

Safety, Tumor Reduction, and Clinical Impact of Zika Virus Injection in Dogs with Advanced-Stage Brain Tumors

scientific article published on 10 March 2020

Sarcoglycanopathies are responsible for 68% of severe autosomal recessive limb-girdle muscular dystrophy in the Brazilian population

artículo científico publicado en 1999

Sarcoglycanopathies: a multiplex molecular analysis for the most common mutations

scientific article published on 01 June 2006

Sarcolemmal distribution of abnormal dystrophin in Xp21 carriers

artículo científico publicado en 1993

Schinzel-Giedion syndrome in two Brazilian patients: Report of a novel mutation inSETBP1and literature review of the clinical features

article

Screening of ARHSP-TCC patients expands the spectrum of SPG11 mutations and includes a large scale gene deletion

artículo científico publicado en 2009

Screening of deletions in the dystrophin gene with the cDNA probes Cf23a, Cf56a, and Cf115

artículo científico publicado en 1990

Screening of male patients with autosomal recessive Duchenne dystrophy through dystrophin and DNA studies

artículo científico publicado en 1991

Segregation distortion of the CTG repeats at the myotonic dystrophy (DM) locus: new data from Brazilian DM families ⬇️

artículo científico publicado el 1 de septiembre de 1997

Serum CK-MB activity in progressive muscular dystrophy: is it of nosologic value?

artículo científico publicado en 1985

Serum creatine-kinase (CK) and pyruvate-kinase (PK) activities in Duchenne (DMD) as compared with Becker (BMD) muscular dystrophy

artículo científico publicado en 1991

Serum pyruvate-kinase (PK) activity during pregnancy in potential carriers for Duchenne muscular dystrophy

artículo científico publicado en 1983

Serum pyruvate-kinase (PK) and creatine-phosphokinase (CPK) in female relatives and patients with X-linked muscular dystrophies (Duchenne and Becker)

artículo científico publicado en 1980

Serum pyruvate-kinase (PK) and creatine-phosphokinase (CPK) in progressive muscular dystrophies

artículo científico publicado el 1 de mayo de 1978

Severe nonspecific X-linked mental retardation caused by a proximally Xp located gene: intragenic heterogeneity or a new form of X-linked mental retardation?

artículo científico publicado en 1993

Sexually dimorphic effect of the Val66Met polymorphism of BDNF on susceptibility to Alzheimer's disease: New data and meta-analysis

artículo científico publicado en 2010

Short stature in Duchenne muscular dystrophy

artículo científico publicado el 1 de marzo de 1991

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

artículo científico publicado en 2014

Social adjustment in adult males affected with progressive muscular dystrophy

artículo científico publicado el 7 de febrero de 1998

Spastic paraplegia, optic atrophy, and neuropathy is linked to chromosome 11q13

artículo científico publicado en 2005

Spastic paraplegia, optic atrophy, and neuropathy: new observations, locus refinement, and exclusion of candidate genes

artículo científico publicado en 2009

Stem cell proliferation under low intensity laser irradiation: a preliminary study

artículo científico publicado en 2008

Stem cell researches in Brazil: present and future challenges

artículo científico publicado en 2009

Stem cells for amyotrophic lateral sclerosis modeling and therapy: myth or fact?

artículo científico publicado en 2015

Stem cells from umbilical cord blood differentiate into myotubes and express dystrophin in vitro only after exposure to in vivo muscle environment

artículo científico publicado en 2007

Stem cells from umbilical cord blood do have myogenic potential, with and without differentiation induction in vitro

artículo científico publicado en 2009

Steroids in Duchenne dystrophy

artículo científico publicado en 2013

Steroids in Duchenne muscular dystrophy

artículo científico publicado en 1992

Structural variation of the malaria-associated human glycophorin A-B-E region

artículo científico publicado en 2020

Suggestion for a possible mitigating treatment of Duchenne muscular dystrophy

scientific article published on 01 January 1981

Sweat electrolyte and cystic fibrosis mutation analysis allows early diagnosis in Brazilian children with clinical signs compatible with cystic fibrosis ⬇️

artículo científico publicado el 1 de abril de 1998

Systemic delivery of human mesenchymal stromal cells combined with IGF-1 enhances muscle functional recovery in LAMA2 dy/2j dystrophic mice

artículo científico publicado en 2013

Targeted molecular investigation in patients within the clinical spectrum of Auriculocondylar syndrome.

artículo científico publicado en 2017

Telethonin protein expression in neuromuscular disorders

artículo científico publicado en 2002

The 10 autosomal recessive limb-girdle muscular dystrophies

artículo científico publicado en 2003

The Project MinE databrowser: bringing large-scale whole-genome sequencing in ALS to researchers and the public

The Role of Pericytes in Amyotrophic Lateral Sclerosis

scientific article published on 01 January 2019

The association of the short variant of the 5-HTTPLR polymorphism and the apoE epsilon4 allele does not increase the risk for late onset Alzheimer's disease

artículo científico publicado en 1999

The facioscapulohumeral muscular dystrophy (FSHD1) gene affects males more severely and more frequently than females

artículo científico publicado en 1998

The genetics of Alzheimer's disease in Brazil: 10 years of analysis in a unique population

artículo científico publicado en 2008

The human serotonin transporter gene explains why some populations are more optimistic?

artículo científico publicado en 2009

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

artículo científico publicado en 2005

The p.P56S mutation in the VAPB gene is not due to a single founder: the first European case

artículo científico publicado en 2010

The risk of COVID-19 death is much greater and age dependent with type I IFN autoantibodies

artículo científico publicado en 2022

The sarcoglycan complex in the six autosomal recessive limb-girdle muscular dystrophies

artículo científico publicado en 1996

The seventh form of autosomal recessive limb-girdle muscular dystrophy is mapped to 17q11-12

artículo científico publicado en 1997

The spectrum of myopathies in the city of São Paulo

artículo científico publicado en 1977

The spectrum of myopathies in the city of São Paulo

artículo científico publicado en 1976

The use of chromosome 5q markers for confirming the diagnosis of proximal spinal muscular atrophy

artículo científico publicado en 1993

Thomsen or Becker myotonia? A novel autosomal recessive nonsense mutation in the CLCN1 gene associated with a mild phenotype

artículo científico publicado en 2012

Transcriptional regulation differs in affected facioscapulohumeral muscular dystrophy patients compared to asymptomatic related carriers.

scholarly article

Transplantation of Human Adipose Mesenchymal Stem Cells in Non-Immunosuppressed GRMD Dogs is a Safe Procedure.

artículo científico publicado en 2016

Transposon-like element in the dystrophin gene

scientific article published on 01 June 1993

Treatment of Duchenne muscular dystrophy with growth hormone inhibitors

artículo científico publicado en 1986

Variable expressivity of osteogenesis imperfecta in a Brazilian family due to p.G1079S mutation in the COL1A1 gene

artículo científico publicado en 2012

Variants in the Kisspeptin-GnRH Pathway Modulate the Hormonal Profile and Reproductive Outcomes

artículo científico publicado en 2020

Why is the reproductive performance lower in Becker (BMD) as compared to limb girdle (LGMD) muscular dystrophy male patients?

scientific article published on 01 February 1995

Zika Virus Selectively Kills Aggressive Human Embryonal CNS Tumor Cells and

scientific article published on 26 April 2018

[Myotonic dystrophy and heart disease: behavior of arrhythmic events and conduction disturbances]

scientific article published on 01 April 2005

[Myotonic dystrophy: study of clinico-genetic correlation in a pair of relatives (father-son)]

scientific article published on 01 December 1994

[Post exercise myalgias as presentation form of dystrophinopathy]

scientific article published on 01 July 2000

p27 variant and corticotropinoma susceptibility: a genetic and in vitro study.

artículo científico publicado en 2014

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