1,720,974 research outputs found
Discordant clinical outcome in type III spinal muscular atrophy sibships showing the same deletion pattern
No full textAnalysis of complete mitochondrial genomes of patients with schizophrenia and bipolar disorder.
No full textThe present study aims at investigating the association between common and rare variants of mitochondrial DNA (mtDNA), and increased risk of schizophrenia (SZ) and bipolar disorder (BPD) in a cohort of patients originating from the same Italian population. The distribution of the major European mtDNA haplogroups was determined in 89 patients and their frequencies did not significantly differ from those observed in the Italian population. Moreover, 27 patients with high probability of having inherited the disease from the maternal side were selected for whole mitochondrial genome sequencing to investigate the possible presence of causative point mutations. Overall, 213 known variants and 2 novel changes were identified, but none of them was predicted to have functional effects. Hence, none of the sequence changes we found in our sample could explain the maternal component of SZ and BPD predisposition.Journal of Human Genetics advance online publication, 13 October 2011; doi:10.1038/jhg.2011.111
Novel mutations and polymorphisms in the human dystrophin gene detected by double-strand conformation analysis
No full textNovel mutations in the L1CAM gene support the complexity of L1 syndrome
Full text linkX-linked hydrocephalus, MASA syndrome, X-linked complicated Spastic Paraplegia
Type I and X-linked partial agenesis of the corpus callosum are the four rare
diseases usually referred to L1 syndrome, caused by mutations in the L1CAM gene.
By direct sequencing of L1CAM in 16 patients, we were able to identify seven
mutations, five of which were never described before. Patients' phenotype
evaluation revealed a correlation between the number of clinical features typical
of L1 syndrome and the chance to find causative mutation. Our findings support
that L1CAM mutations are associated with widely heterogeneous phenotypes, however
the occurrence of several clinical features remains the best criterion for
planning molecular testing both in familial and apparently sporadic cases
Co-segregation of LMNA and PMP22 gene mutations in the same family.
No full textWe report here clinical, electrophysiological, and molecular findings in a family affected with two inherited genetic diseases: limb girdle muscular dystrophy type 1B (LGMD1B) and hereditary neuropathy with liability to pressure palsies (HNPP). Members of the family carry a novel missense mutation in the LMNA gene and a nonsense mutation in the PMP22 gene. Interestingly, the double LMNA/PMP22 mutations carriers showed clinical features more severe than usually seen in HNPP, and electrophysiological findings suggesting an axonal loss in addition to a typical myelinopathy. This study provides further insights into the relevance of lamin A/C in muscle and nerve
A novel SACS mutation results in non-ataxic spastic paraplegia and peripheral neuropathy.
No full text
Going Beyond Counting First Authors in Author Co-citation Analysis
Full text linkThe present study examines one of the fundamental aspects of author co-citation analysis (ACA) - the way co-citation
counts are defined. Co-citation counting provides the data on which all subsequent statistical analyses and mappings
are based, and we compare ACA results based on two different types of co-citation counting - the traditional type that
only counts the first one among a cited work's authors on the one hand and a non-traditional type that takes into
account the first 5 authors of a cited work on the other hand. Results indicate that the picture produced through this non-traditional author co-citation counting contains more coherent author groups and is therefore considerably clearer. However, this picture represents fewer specialties in the research field being studied than that produced through the traditional first-author co-citation counting when the same number of top-ranked authors is selected and analyzed. Reasons for these effects are discussed
Variations on the Author
Full text link“Variations on the Author” discusses two of Eduardo Coutinho’s recent films (Um Dia na Vida, from 2010, and Últimas Conversas, posthumously released in 2015) and their contribution to the general question of documentary authorship. The director’s filmography is characterized by a consistent yet self-effacing form of authorial self-inscription: Coutinho often features as an interviewer that rather than express opinions propels discourses; an interviewer that is good at listening. This mode of self-inscription characterizes him as an author who is not expressive but who is nonetheless markedly present on the screen. In Um Dia na Vida, however, Coutinho is completely absent form the image, while Últimas Conversas, on the contrary, includes a confessional prologue that moves the director from the margins to the center of his films. This article examines the ways in which these works stand out in the filmography of a director who offers new insights into the notion of cinematic authorship
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