L'Ipotesi del Mapping Lessicale e l'apprendimento dei verbi in italiano come lingua seconda con particolare attenzione ai "riflessivi".

Scopo della presente ricerca \ue8 testare la validit\ue0 dell\u2019Ipotesi del Mapping Lessicale della Teoria della Processabilit\ue0 per l\u2019italiano L2 secondo la recente formulazione (Pienemann, Di Biase, Kawaguchi 2005; Bettoni, Di Biase in stampa). In particolare verr\ue0 verificata l\u2019implicazionalit\ue0 dei tre stadi dell\u2019Ipotesi del Mapping Lessicale, focalizzando successivamente l\u2019attenzione sul terzo stadio dello sviluppo sintattico, lo stadio della mappatura non di default (NDF). In questo stadio la ricerca si concentrer\ue0 nello studio delle \uabcostruzioni con il si\ubb che richiedono mappature non canoniche. Partendo dalla descrizione dei verbi e delle costruzioni con il si secondo le tre strutture di rappresentazione della frase (struttura argomentale, struttura funzionale e struttura dei costituenti) formulate dalla Grammatica Lessico Funzionale (Bresnan 2001; Dalrymple 2001; Falk 2001), si proceder\ue0 nella classificazione degli stessi sulla base del tipo di mappature richieste (canoniche vs non canoniche). Lo studio \ue8 basato su un corpus learner di italiano L2 di 24 apprendenti adulti con varie L1. Con il presente lavoro si mostrer\ue0 come, a causa della diversa natura delle costruzioni con il si, l\u2019acquisizione delle stesse non avvenga\ua0 in modo uniforme e contemporaneo, ma segua una sequenza di acquisizione determinata da elementi che riguardano la natura degli argomenti del predicato verbale e la loro mappatura sulle funzioni grammaticali e che interessano anche il piano pragmatico di tali costruzioni.This research paper aims to test the plausibility of the Lexical Mapping Hypothesis of Processability Theory for Italian L2 according to its recent formulation (Pienemann, Di Biase, Kawaguchi 2005; Bettoni, Di Biase in press). In particular, we will test the implicationality of the three stages of the Lexical Mapping Hypothesis, later focusing our attention on the third stage of syntactic development, the stage of non-default mapping (NDF). For this stage, the research will focus on the study of \uabsi-constructions\ubb that require non-canonical mapping. Starting from the description of \uabsi-constructions\ubb according to the three structures of sentence representation (argument structure, functional structure and constituent structure) set out by Lexicon Functional Grammar (Bresnan 2001; Dalrymple 2001; Falk 2001), we will then proceed upon their classification on the basis of the type of mapping required (canonical vs non-canonical). The study is based on a corpus of Italian L2 learners made up of 24 adult learners with various L1s. With this paper we will demonstrate how the acquisition of the \uabsi-constructions\ubb does not happen in a uniform and simultaneous manner, but follows a sequence of acquisition determined by factors that relate to the nature of the topics of the verbal predicate and their mapping onto grammatical functions, and that also affect the pragmatic level of such constructions

Pathogenic variants in MT-ATP6: A UK-based Mitochondrial Disease Cohort Study

Distinct clinical syndromes have been associated with pathogenic MT-ATP6 variants. In this cohort study, we identified 125 individuals (60 families) including 88 clinically affected individuals and 37 asymptomatic carriers. Thirty-one individuals presented with Leigh syndrome and seven with Neuropathy Ataxia Retinitis Pigmentosa. The remaining 50 patients presented with variable non-syndromic features including ataxia, neuropathy and learning disability. We confirmed maternal inheritance in 39 families, and demonstrated tissue segregation patterns and phenotypic threshold are variant-dependent. Our findings suggest that MT-ATP6-related mitochondrial disease is best conceptualised as a spectrum disorder and should be routinely included in genetic ataxia and neuropathy gene panels. This article is protected by copyright. All rights reserved

Clinicopathologic and molecular spectrum of RNASEH1-related mitochondrial disease.

OBJECTIVE: Pathologic ribonuclease H1 (RNase H1) causes aberrant mitochondrial DNA (mtDNA) segregation and is associated with multiple mtDNA deletions. We aimed to determine the prevalence of RNase H1 gene (RNASEH1) mutations among patients with mitochondrial disease and establish clinically meaningful genotype-phenotype correlations. METHODS: RNASEH1 was analyzed in patients with (1) multiple deletions/depletion of muscle mtDNA and (2) mendelian progressive external ophthalmoplegia (PEO) with neuropathologic evidence of mitochondrial dysfunction, but no detectable multiple deletions/depletion of muscle mtDNA. Clinicopathologic and molecular evaluation of the newly identified and previously reported patients harboring RNASEH1 mutations was subsequently undertaken. RESULTS: Pathogenic c.424G>A p.Val142Ile RNASEH1 mutations were detected in 3 pedigrees among the 74 probands screened. Given that all 3 families had Indian ancestry, RNASEH1 genetic analysis was undertaken in 50 additional Indian probands with variable clinical presentations associated with multiple mtDNA deletions, but no further RNASEH1 mutations were confirmed. RNASEH1-related mitochondrial disease was characterized by PEO (100%), cerebellar ataxia (57%), and dysphagia (50%). The ataxia neuropathy spectrum phenotype was observed in 1 patient. Although the c.424G>A p.Val142Ile mutation underpins all reported RNASEH1-related mitochondrial disease, haplotype analysis suggested an independent origin, rather than a founder event, for the variant in our families. CONCLUSIONS: In our cohort, RNASEH1 mutations represent the fourth most common cause of adult mendelian PEO associated with multiple mtDNA deletions, following mutations in POLG, RRM2B, and TWNK. RNASEH1 genetic analysis should also be considered in all patients with POLG-negative ataxia neuropathy spectrum. The pathophysiologic mechanisms by which the c.424G>A p.Val142Ile mutation impairs human RNase H1 warrant further investigation

Erratum: The solar orbiter radio and plasma waves (RPW) instrument (Astronomy and Astrophysics (2020) 642 (A12) DOI: 10.1051/0004-6361/201936214)

The erratum concerns Fig. 9 entitled "Antenna radio-electrical properties" for which some of the parameters are not correct. The new figure with new parameters is provided in Fig. 1 of this corrigendum. Fig. 1. Corrected Antenna radio-electrical properties. (Figure Presented)

Author Correction: Nuclear-mitochondrial DNA segments resemble paternally inherited mitochondrial DNA in humans

An amendment to this paper has been published and can be accessed via a link at the top of the paper

MtDNA-maintenance defects: syndromes and genes

A large group of mitochondrial disorders, ranging from early-onset pediatric encephalopathic syndromes to late-onset myopathy with chronic progressive external ophthalmoplegia (CPEOs), are inherited as Mendelian disorders characterized by disturbed mitochondrial DNA (mtDNA) maintenance. These errors of nuclear-mitochondrial intergenomic signaling may lead to mtDNA depletion, accumulation of mtDNA multiple deletions, or both, in critical tissues. The genes involved encode proteins belonging to at least three pathways: mtDNA replication and maintenance, nucleotide supply and balance, and mitochondrial dynamics and quality control. In most cases, allelic mutations in these genes may lead to profoundly different phenotypes associated with either mtDNA depletion or multiple deletions. Communicated by: Shamima Rahman Presented at the Annual Symposium of the Society for the Study of Inborn Errors of Metabolism, Rome, Italy, September 6–9, 2016This work was supported by: ERC FP7-322424 grant (to MZ), CoEN grant 3038 (to MZ and CV) and the MRC core grant to the Mitochondrial Biology Unit

Nuclear-mitochondrial DNA segments resemble paternally inherited mitochondrial DNA in humans

Abstract: Several strands of evidence question the dogma that human mitochondrial DNA (mtDNA) is inherited exclusively down the maternal line, most recently in three families where several individuals harbored a ‘heteroplasmic haplotype’ consistent with biparental transmission. Here we report a similar genetic signature in 7 of 11,035 trios, with allelic fractions of 5–25%, implying biparental inheritance of mtDNA in 0.06% of offspring. However, analysing the nuclear whole genome sequence, we observe likely large rare or unique nuclear-mitochondrial DNA segments (mega-NUMTs) transmitted from the father in all 7 families. Independently detecting mega-NUMTs in 0.13% of fathers, we see autosomal transmission of the haplotype. Finally, we show the haplotype allele fraction can be explained by complex concatenated mtDNA-derived sequences rearranged within the nuclear genome. We conclude that rare cryptic mega-NUMTs can resemble paternally mtDNA heteroplasmy, but find no evidence of paternal transmission of mtDNA in humans

Nuclear-mitochondrial DNA segments resemble paternally inherited mitochondrial DNA in humans

Abstract: Several strands of evidence question the dogma that human mitochondrial DNA (mtDNA) is inherited exclusively down the maternal line, most recently in three families where several individuals harbored a ‘heteroplasmic haplotype’ consistent with biparental transmission. Here we report a similar genetic signature in 7 of 11,035 trios, with allelic fractions of 5–25%, implying biparental inheritance of mtDNA in 0.06% of offspring. However, analysing the nuclear whole genome sequence, we observe likely large rare or unique nuclear-mitochondrial DNA segments (mega-NUMTs) transmitted from the father in all 7 families. Independently detecting mega-NUMTs in 0.13% of fathers, we see autosomal transmission of the haplotype. Finally, we show the haplotype allele fraction can be explained by complex concatenated mtDNA-derived sequences rearranged within the nuclear genome. We conclude that rare cryptic mega-NUMTs can resemble paternally mtDNA heteroplasmy, but find no evidence of paternal transmission of mtDNA in humans

"Palombaro ero in fondo al mare": uno studio di caso sull'analisi diacronica dei costituenti nella CF.

Lo studio prende in esame l'analisi dei costituenti di produzioni scritte (tramite parsing) di un soggetto autistico sottoposto alla pratica di comunicazione facilitata (CF). I risultati dell'analisi sono confrontati con le sequenze di acquisizione dell'italiano L2

Aspetti dell\u2019acquisizione degli alterati in italiano L2: dall\u2019analisi di corpora alle applicazioni nella didattica dell\u2019italiano come L2.

Nella prima parte dell'articolo si illustrano i risultati di uno studio sull'acquisizione dei fenomeni valutativi in apprendenti l'italiano L2 a partire dall'analisi di corpora, mentre nella seconda parte, alla luce dei risultati ottenuti, si propongono percorsi metodologici di insegnamento degli alterati