[PDF] Top 20 Construcción territorial según los planes y proyectos estratégicos
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Composition of the Intranuclear Inclusions of Fragile X-associated Tremor/Ataxia Syndrome
... fying inclusions is novel; therefore, it is important to ver- ify that what is collected from FACS is a substantially pure population of ...sorted inclusions verified that their autofluorescence profile was ... See full document
139
FMRpolyG-positive inclusions in CNS and non-CNS organs of a fragile X premutation carrier with fragile X-associated tremor/ataxia syndrome
... of inclusions. The presence of FMRpolyG-positive intranuclear inclusions in heart, kidney, adrenal gland and thyroid is consistent with the unexplained medical co-morbidities reported in some ... See full document
55
Neuropathology of RAN translation proteins in fragile X-associated tremor/ataxia syndrome
... disorder Fragile X-associated Tremor/Ataxia Syndrome ...neuronal intranuclear inclusions (NIIs) are the neuropathological hallmark of ...all inclusions. A ... See full document
11
The multiple molecular facets of fragile X-associated tremor/ataxia syndrome
... cytoplasmic inclusions in Drosophila expressing 90 CGG repeats, and in inclusions in superior-mid tem- poral cortex neurons from human FXTAS brain sections ...purified inclusions from cerebral cortex ... See full document
350
Mouse models of the fragile X premutation and fragile X-associated tremor/ataxia syndrome
... disorder fragile X-associated tremor/ataxia syndrome ...of fragile X mental retardation protein, and ubiquitin-positive intranuclear ...are associated ... See full document
9
Advances in the Treatment of Fragile X Syndrome
... (fragile X syndrome) and distinct difficul- ties, including primary ovarian insufficiency, neuropathy and the fragile X-associated tremor/ataxia syndrome, in ... See full document
13
Health Supervision for Children With Fragile X Syndrome
... tion tremor develops after 50 years of age and is typically followed by ...ataxia. Associated features include a periph- eral neuropathy; parkinsonian mani- festations; autonomic dysfunction such as ... See full document
5
X-inactivation in the clinical phenotype of fragile X premutation carrier sisters
... each associated with different lengths of the CGG tract. Fragile X syndrome (FXS), the most common inherited cause of intellectual disability in boys, results from a CGG expansion of ... See full document
13
Intranuclear inclusions in a fragile X mosaic male
... neurological syndrome affecting older males and females over 50 years of age and presenting features such as action tremor and ataxia, cognitive decline, neuropathy, autonomic dysfunction and ... See full document
5
Altered Redox Mitochondrial Biology in the Neurodegenerative Disorder Fragile X-Tremor/Ataxia Syndrome: Use of Antioxidants in Precision Medicine
... the fragile X mental retardation 1 gene (FMR1) is the hallmark of the triplet nucleotide disease known as the “premutation” as opposed to those with >200 repeats, known as the full mutation or ... See full document
12
Aging in fragile X syndrome
... (Greco et al. 2009). The discovery of the fragile X- associated tremor ataxia syndrome (FXTAS) (Hagerman et al. 2001; Berry-Kravis et al. 2007) in elderly men and some women ... See full document
21
Fragile X Syndrome
... lems associated with the gene that re- sults in FXS as found in older individu- als in the family who have neurologic deficits such as tremor/ataxia or early ovarian failure in ... See full document
26
Public Health Literature Review of Fragile X Syndrome
... been conducted with children and adolescents. Longitudinal studies of age-related decline in adolescence in cognition and adaptive behavior have shown mixed results. Moreover, a large evidence base is emerging on the ... See full document
6
Targeted treatments for fragile X syndrome
... Abstract Fragile X syndrome (FXS) is the most common identifiable genetic cause of intellectual disability and autistic spectrum disorders (ASD), with up to 50% of males and some females with FXS ... See full document
5
Lifespan trajectory of affect in Cornelia de Lange syndrome : towards a neurobiological hypothesis
... cross syndrome contrasts are advantageous for a number of reasons [40] and can indicate direction of difficulties, as- certaining within this which group would be considered ‘atypical’ without reference to an ... See full document
5
Intellectual functioning and behavioural features associated with mosaicism in fragile X syndrome
... were associated with de- creases in SA CSS and RRB CSS in their longitudinal study of males with FXS (FM-only + PM/FM ...also associated with less repeti- tive behaviours in males with FXS ... See full document
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Insilico Analysis of Fmrp Protein in Fragile X Syndrome
... It has been observed that the mutation in coding region of FMRP leads to changes on the structural level as evidenced in the study and that gives variation in binding affinity of interacting proteins with FMRP and this ... See full document
10
ICAM5 as a Novel Target for Treating Cognitive Impairment in Fragile X Syndrome
... Fragile X syndrome (FXS) is the most common inherited form of intellectual disability, resulted from the silencing of the Fmr1 gene and the subsequent loss of fragile X mental ... See full document
6
Testicular Torsion in an Adolescent With Fragile X Syndrome
... ragile X syndrome (FraX) affects 1 in 1250 to 1 in 4000 individuals, making it the most com- mon cause of inherited mental ...of associated symptoms or testic- ular pathology are ... See full document
5
CLINICAL DIAGNOSIS OF GENERALIZED CYTOMEGALIC INCLUSION DISEASE
... reactions to species specific viruses.1624 Pappenheimer and Slanetz25 have described a generalized visceral disease of guinea pigs associated with intranuclear inclusions and have sugges[r] ... See full document
6
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