Salmo Raskin
A5020462584- Genetic Neurodegenerative Diseases
- Mitochondrial Function and Pathology
- Neurological disorders and treatments
- Cystic Fibrosis Research Advances
- Parkinson's Disease Mechanisms and Treatments
- Genetics and Neurodevelopmental Disorders
- DNA Repair Mechanisms
- Genomic variations and chromosomal abnormalities
- Neurogenetic and Muscular Disorders Research
- Congenital Ear and Nasal Anomalies
- Neonatal Respiratory Health Research
- Connective tissue disorders research
- RNA regulation and disease
- Cleft Lip and Palate Research
- Glycogen Storage Diseases and Myoclonus
- Metabolism and Genetic Disorders
- Tracheal and airway disorders
- Congenital heart defects research
- Muscle Physiology and Disorders
- Neurological diseases and metabolism
- Autism Spectrum Disorder Research
- Genomics and Rare Diseases
- Craniofacial Disorders and Treatments
- Prenatal Screening and Diagnostics
- Genetic Syndromes and Imprinting
DNA Consult Genética e Biotecnologia (Brazil)
2025
Universidade Federal do Paraná
2007-2025
Genetikum
1999-2024
Gdańsk Medical University
2024
Mayo Clinic in Florida
2024
Mayo Clinic
2024
Children's National
2024
Genetika
1999-2023
Pontifícia Universidade Católica do Paraná
2011-2023
University College London
2012-2023
Some copy-number variants are associated with genomic disorders extreme phenotypic heterogeneity. The cause of this variation is unknown, which presents challenges in genetic diagnosis, counseling, and management.We analyzed the genomes 2312 children known to carry a variant intellectual disability congenital abnormalities, using array comparative hybridization.Among affected children, 10.1% carried second large addition primary lesion. We identified seven disorders, each defined by specific...
Abstract To establish phenotype–genotype correlations in early‐onset parkinsonism, we have compared the phenotype of a large series 146 patients with and 250 without parkin mutations. Although no single sign distinguished groups, mutations had significantly earlier more symmetrical onset, dystonia often at onset hyperreflexia, slower progression disease, tendency toward greater response to levodopa despite lower doses. After forward stepwise multiple logistic regression analysis, brisk...
Parkin gene mutations are reported to be a major cause of early-onset parkinsonism (age at onset < or = 45 years) in families with autosomal recessive inheritance and isolated juvenile-onset <20 years). However, the precise frequency parkin cases is not known. In order evaluate patients according their age onset, we studied 146 various geographical origin an years. All were screened for using semi-quantitative polymerase chain reaction combined sequencing entire coding region. We identified...
<b>Background:</b> Noonan syndrome, cardio-facio-cutaneous syndrome (CFC) and Costello constitute a group of developmental disorders with an overlapping pattern congenital anomalies. Each these conditions can be caused by germline mutations in key components the highly conserved Ras-MAPK pathway, possibly reflecting similar pathogenesis underlying three disorders. Germline <i>KRAS</i> have recently been identified small number patients CFC. <b>Methods results:</b> 260 were screened for...
Severe myoclonic epilepsy of infancy (SMEI or Dravet syndrome) is a rare disorder occurring in young children often without family history similar disorder. The earliest disease manifestations are usually fever-associated seizures. Later life, patients display different types afebrile seizures including Arrest psychomotor development occurs the second year life and most become ataxic. Patients resistant to antiepileptic drug therapy. Recently, we described de novo mutations neuronal sodium...
Neurofibromatosis type 1 (NF1) is one of the most frequent genetic disorders, affecting 1:3,000 worldwide. Identification genotype-phenotype correlations challenging because wide range clinical variability, progressive nature disorder, and extreme diversity mutational spectrum. We report 136 individuals with a distinct phenotype carrying five different NF1 missense mutations p.Arg1809. Patients presented multiple café-au-lait macules (CALM) or without freckling Lisch nodules, but no...
The proline-rich transmembrane protein (PRRT2) gene was recently identified using exome sequencing as the cause of autosomal dominant paroxysmal kinesigenic dyskinesia (PKD) with or without infantile convulsions (IC) (PKD/IC syndrome). Episodic neurologic disorders, such epilepsy, migraine, and movement often coexist are thought to have a shared channel-related etiology. To investigate further frequency, spectrum, phenotype PRRT2 mutations, we analyzed this in 3 large series episodic...
Cystic fibrosis (CF) is an autosomal recessive genetic disorder characterized by dysfunction of the CFTR gene. It a multisystem disease that most often affects White individuals. In recent decades, various advances in diagnosis and treatment CF have drastically changed scenario, resulting significant increase survival quality life. Brazil, current neonatal screening program for has broad coverage, Brazilian states referral centers follow-up individuals with disease. Previously, was limited...
Abstract Cornelia de Lange Syndrome (CdLS) is a rare, dominantly inherited multisystem developmental disorder characterized by highly variable manifestations of growth and delays, upper limb involvement, hypertrichosis, cardiac, gastrointestinal, craniofacial, other systemic features. Pathogenic variants in genes encoding cohesin complex structural subunits regulatory proteins (NIPBL, SMC1A, SMC3, HDAC8, RAD21) are the major pathogenic contributors to CdLS. Heterozygous or hemizygous these...
Intronic FGF14 GAA repeat expansions have recently been found to be a common cause of hereditary ataxia (GAA-FGF14 ataxia; SCA27B). The global epidemiology and regional prevalence this newly reported disorder remain established. In study, we investigated the frequency GAA-FGF14 in large cohort Brazilian patients with unsolved adult-onset ataxia.We recruited 93 index genetically despite extensive genetic investigation genotyped locus. Patients were across 4 different regions Brazil.Of...
Background: Clinical trials of anti-Aβ monoclonal antibodies in Alzheimer disease (AD) infer target engagement from Aβ positron emission tomography (PET) and/or fluid biomarkers such as cerebrospinal (CSF) Aβ42/40.However, these measure deposits indirectly incompletely.In contrast, postmortem neuropathologic assessments allow direct investigation treatment effects on brain and many other pathologic features.Methods: From a clinical trial dominantly inherited AD, we measured...
We have identified a large expansion of an ATTCT repeat within intron 9 ATXN10 on chromosome 22q13.31 as the genetic mutation spinocerebellar ataxia type 10 (SCA10). Our subsequent studies indicated that neither gain nor loss function ataxin is likely major pathogenic mechanism SCA10. Here, using SCA10 cells, and transfected cells transgenic mouse brain expressing expanded intronic AUUCU repeats disease models, we show evidence for key molecular First, studied fate mutant RNA by in situ...
Abstract Membrane trafficking is a complex, essential process in eukaryotic cells responsible for protein transport and processing. Deficiencies vacuolar sorting (VPS) proteins, key regulators of trafficking, cause abnormal intracellular segregation macromolecules organelles are linked to human disease. VPS proteins function as part complexes such the homotypic fusion vacuole (HOPS) tethering composed VPS11, VPS16, VPS18, VPS33A, VPS39 VPS41. The HOPS-specific subunit VPS41 has been reported...
Xia‒Gibbs syndrome (XGS) is a rare intellectual disability (ID) caused by de novo AHDC1 pathogenic variants. We characterized clinical and molecular features of 16 Brazilian patients with XGS. Patient data were collected through semistructured interviews family members, reanalysis previous health genetic assessments, reports from physicians. Genomic variants their segregation validated via Sanger sequencing. Statistical analyses conducted to evaluate genotype‒phenotype associations. Twelve...
Xia‒Gibbs syndrome (XGS) is a rare intellectual disability (ID) caused by de novo AHDC1 pathogenic variants. We characterized clinical and molecular features of 16 Brazilian patients with XGS. Patient data were collected through semistructured interviews family members, reanalysis previous health genetic assessments, reports from physicians. Genomic variants their segregation validated via Sanger sequencing. Statistical analyses conducted to evaluate genotype‒phenotype associations. Twelve...
Abstract A 3 bp deletion of condon 508 (phenylalanine) the cystic fibrosis (CF) gene constitutes mutation most CF chromosomes. The frequency this (referred to as ΔF508), varies considerably between populations, ranging form 26% mutations in Turkey 88% Denmark. To determine ΔF508 Brazilian Caucasoid patients, we used direct polymerase chain reacion (PCR) amplification DNA obtained from dried blood spots on Guthrie cards, followed by ethidium bromide staining gels. Although overall was 47% 380...
Spinocerebellar ataxia type 10 (SCA10) is an autosomal dominant caused by ATTCT repeat expansion in intron of the SCA10 gene. has been reported only Mexican families, which disease showed a combination cerebellar and epilepsy. The authors report 28 patients from five new Brazilian families. All without epilepsy, suggesting that phenotypic expression mutation differs between
The facial photographs of 81 individuals with Noonan syndrome, from infancy to adulthood, have been evaluated by two dysmorphologists (JA and MZ), each whom has considerable experience disorders the Ras/MAPK pathway. Thirty-two this cohort PTPN11 mutations, 21 SOS1 11 RAF1 17 KRAS mutations. appearance person was judged be typical syndrome or atypical. In gene category both unusual faces were found. We determined that some mutations in most commonly affected gene, PTPN11, which is correlated...