[PDF] Top 20 CLINICAL AND MOLECULAR ANALYSIS OF SPINAL MUSCULAR ATROPHY IN BRAZILIAN PATIENTS
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CLINICAL AND MOLECULAR ANALYSIS OF SPINAL MUSCULAR ATROPHY IN BRAZILIAN PATIENTS
... elucidated, analysis of the SMN gene in affected fami- lies is undoubtedly extremely important for clinical diag- nosis and prevention of new cases in “at-risk” families ... See full document
6
Spinal muscular atrophy 5Q – Treatment with nusinersen
... Technologies in Health (CADTH) technology as- sessment because of the use of a treatment regimen or dose ...https://www.cadth.ca/sites/default/files/cdr/ ... See full document
8
X-linked spinal and bulbar muscular atrophy (Kennedy’s disease): the first case described in the Brazilian Amazon
... case of 86-year-old asymptomatic woman with 37/51 CAG repetitions, and her son, a 46-year-old asymptomatic man with 37 ...CAG) and pathological alleles (from 38 CAG), the second one is that 37 CAG ... See full document
5
Arq. NeuroPsiquiatr. vol.65 número1
... Duchenne muscular dystrophy (DMD) and Becker muscular dystrophy (BMD) are caused by mutations in the dystrophin ...106 patients with a diagnosis of probable DMD/BMD by analyzing ... See full document
4
Clinical and molecular characterization of Brazilian patients with growth hormone gene deletions
... 23 patients with isolated growth hormone (GH) deficiency (12 males and 11 females: heights ...endonuclease analysis of polymerase chain reaction amplification ...unrelated patients had ... See full document
7
Clinical and Molecular Characterization of Brazilian Patients Suspected to Have Lynch Syndrome.
... functional analysis of the MLH1 Leu676Pro variant, we screened 280 DNA samples from healthy individuals with no history of cancer in the family to eliminate the possibility of this ... See full document
17
Ribonucleoprotein assembly defects correlate with spinal muscular atrophy severity and preferentially affect a subset of spliceosomal snRNPs.
... levels and snRNP assembly activity resulted in decreased levels of newly assembled snRNPs in SMA ...SMA patients. Western blot analysis shows a reduction in SMN levels ... See full document
12
Inhibition of apoptosis blocks human motor neuron cell death in a stem cell model of spinal muscular atrophy.
... intra- and inter-line ...starting and ending numbers of specific types of neurons or other cell ...SMA patients undergo selective degeneration in a temporal manner, and ... See full document
11
Human adipose-derived mesenchymal stem cells as a new model of spinal and bulbar muscular atrophy.
... Spinal and bulbar muscular atrophy (SBMA) or Kennedy’s disease is an X-linked CAG/polyglutamine expansion motoneuron disease, in which an elongated polyglutamine tract (polyQ) in ... See full document
8
Clinical and molecular analysis of human reproductive disorders in Brazilian patients
... arm of the X chromosome (Xp21) and encodes a transcriptional repressor fac- tor that is classified as an orphan nuclear receptor ...expressed in adre- nal cortex, gonads, hypothalamus and ... See full document
8
Two Novel De Novo GARS Mutations Cause Early-Onset Axonal Charcot-Marie-Tooth Disease.
... expressed and highly evolutionarily conserved in eukaryotic cells ...eukaryotic and prokaryotic cells. The human cytoplasmic GlyRS consists of 685 amino acids, which encode an N-terminal ... See full document
10
UNIVERSIDADE FEDERAL DO PARÁ NÚCLEO DE MEDICINA TROPICAL PROGRAMA DE PÓS-GRADUAÇÃO EM DOENÇAS TROPICAIS KAREN CRISTINI YUMI OGAWA FURTADO
... humans and animals, and is considered as an opportunistic infection commonly associated with ...one of human fungal infections cause significant morbidity and mortality in both ... See full document
103
Peak cough flow in children and young people with spinal muscular atrophy type II and type III El pico flujo de tos en niños y jóvenes con atrofia muscular espinal tipo II y III
... atrofia muscular espinhal é uma doença neurodegenerativa, que pode cursar com insuficiência respiratória ...atrofia muscular espinhal dos tipos II e ...atrofia muscular e espinhal dos tipos II e III ... See full document
6
Arq. NeuroPsiquiatr. vol.64 número2B
... development of ADHD in later ...s and pharmacotherapy (p<0.01); comorbidity (p<0.01); and greater adherence to treatment prescribed for symptoms of ADHD ... See full document
1
Rev. Soc. Bras. Med. Trop. vol.46 número3
... in the PCR-fi ngerprinting reactions. The following standard strains representing each molecular type were included in the analysis: C. neoformans WM 148 (VNI-serotype A), WM 626 (VNII-serotype ... See full document
5
Barriers And Profits Of Distan ce Education In Operations Research Based Decision Analysis
... matrix and storing the data after it has been changed by the ...or in an external file – all variables defined in the standard form can be accessed and modified within the Octave ...tested ... See full document
12
Alternative splicing events are a late feature of pathology in a mouse model of spinal muscular atrophy.
... employed in this study and attributed this finding to dysfunction of the spliceosome secondary to SMN ...point of analysis is not absolutely identical to ours, there is considerable ... See full document
14
The Existence Of Leading Islands Securing And The Border Areas Unitary State Of Indonesia An Analysis In Law Perspective
... era of globalization is impact on the necessity for each country to be able to compete with the world competition that tends ...concept of state sovereignty reduction, technological sophistication, ... See full document
4
Joint Analysis of the Discount Factor and Payoff Parameters in Dynamic Discrete Choice Games
... model and has impli- cations for all two-step estimation methods that wish to estimate the discount ...can of course argue that analogous analysis can be performed with other loss ...value of ... See full document
46
Arq. NeuroPsiquiatr. vol.72 número11
... involvement and facial myo- ...Brain and spinal cord magnetic resonance imaging (MRI) were suggestive of Alexander disease (AD) ...Genetic analysis in GFAP gene confirmed AD ... See full document
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