Search Results - "Sole, G"
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Historical Heliophysical Series of the Ebro Observatory
Published in Solar physics (01-11-2016)“…We present the contents of the historical heliophysical series collected at the Ebro Observatory, as well as the actions carried out to restore and save these…”
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Enhancing Mixing During Groundwater Remediation via Engineered Injection‐Extraction: The Issue of Connectivity
Published in Water resources research (01-07-2023)“…In the context of in situ groundwater remediation, mixing is vital for a successful outcome. A slow mixing rate between the contaminated groundwater and the…”
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The ‘Glass shoulder’: individuals’ perspectives of living with at traumatic glenohumeral dislocation – a qualitative study
Published in Journal of science and medicine in sport (01-10-2023)Get full text
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Revealing solid electrolyte interphase formation through interface-sensitive Operando X-ray absorption spectroscopy
Published in Nature communications (14-10-2022)“…The solid electrolyte interphase (SEI) that forms on Li-ion battery anodes is critical to their long-term performance, however observing SEI formation…”
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Overcoming fear of re-injury after anterior cruciate ligament reconstruction: a qualitative study
Published in Journal of science and medicine in sport (01-10-2019)Get full text
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Real‐life effectiveness 1 year after switching to avalglucosidase alfa in late‐onset Pompe disease patients worsening on alglucosidase alfa therapy: A French cohort study
Published in European journal of neurology (01-07-2024)“…Introduction Late‐onset Pompe disease (LOPD) is characterized by a progressive myopathy resulting from a deficiency of acid α‐glucosidase enzyme activity…”
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Bilateral periventricular nodular heterotopia in France: frequency of mutations in FLNA, phenotypic heterogeneity and spectrum of mutations
Published in Journal of neurology, neurosurgery and psychiatry (01-12-2009)“…Bilateral periventricular nodular heterotopia (BPNH) is the most common form of periventricular heterotopia. Mutations in FLNA, encoding filamin A, are…”
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Fetal phenotypes in otopalatodigital spectrum disorders
Published in Clinical genetics (01-03-2016)“…Otopalatodigital spectrum disorders (OPDSD) include OPD syndromes types 1 and type 2 (OPD1, OPD2), Melnick–Needles syndrome (MNS), and frontometaphyseal…”
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Population trends and survival of nesting green sea turtles Chelonia mydas on Aves Island, Venezuela
Published in Endangered species research (01-01-2015)“…Long-term demographic data are valuable for assessing the effect of anthropogenic impacts on endangered species and evaluating recovery programs. Using a…”
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SPG15 is the second most common cause of hereditary spastic paraplegia with thin corpus callosum
Published in Neurology (06-10-2009)“…Hereditary spastic paraplegias (HSPs) are very heterogeneous inherited neurodegenerative disorders. Our group recently identified ZFYVE26 as the gene…”
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The wide POLG -related spectrum: An integrated view
Published in Journal of the neurological sciences (15-09-2016)“…Abstract The aims of this study were to describe the spectrum of recessively inherited POLG -related disorders, to report new POLG mutations and to discuss…”
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Analysing 3D knee kinematics using statistical parametric mapping during stair descent 20 years post-ACL rupture with and without reconstruction
Published in Physiotherapy (01-05-2015)Get full text
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The initial effects of sustained glenohumeral postero-lateral glide on shoulder muscle activity: a repeated measures study on asymptomatic shoulders
Published in Physiotherapy (01-05-2015)Get full text
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Dehydroepiandrosterone for myotonic dystrophy type 1
Published in Neurology (05-08-2008)“…Myotonic dystrophy type 1 may be associated with low circulating dehydroepiandrosterone (DHEA) levels. This study was aimed at investigating the efficacy and…”
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TWINKLE gene mutation: report of a French family with an autosomal dominant progressive external ophthalmoplegia and literature review
Published in European journal of neurology (01-03-2011)“…Background: Multiple mitochondrial DNA (mtDNA) deletions usually have a mendelian inheritance secondary to mutation in nuclear genes. One of these is the…”
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Sunshine and synoptic cloud observations at Ebro Observatory, 1910–2006
Published in International journal of climatology (30-11-2009)“…The aim of this study is to characterize the evolution of the number of bright sunshine hours and cloudiness at Ebro Observatory. Sunshine and synoptic cloud…”
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OPALE: A patient registry for laminopathies and emerinopathies in France
Published in Neuromuscular disorders : NMD (01-10-2016)Get full text
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Efficiency of targeted NGS on myopathies and muscular dystrophy genes: Importance of an optimized strategy of capture, sequencing, bioinformatic analyses and multidisciplinary approach for variants detection and interpretation
Published in Neuromuscular disorders : NMD (01-10-2016)Get full text
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