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Article
Unravelling the etiology of sporadic late-onset cerebellar ataxia in a cohort of 205 patients: a prospective study
Despite recent progress in the field of genetics, sporadic late-onset (> 40 years) cerebellar ataxia (SLOCA) etiology remains frequently elusive, while the optimal diagnostic workup still needs to be determine...
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Article
Open AccessAuthor Correction: Direct observations of pure electron outflow in magnetic reconnection
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Article
Open AccessNoninvasive prenatal diagnosis of genetic diseases induced by triplet repeat expansion by linked read haploty** and Bayesian approach
The field of noninvasive prenatal diagnosis (NIPD) has undergone significant progress over the last decade. Direct haploty** has been successfully applied for NIPD of few single-gene disorders. However, tech...
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Article
Open AccessDirect observations of pure electron outflow in magnetic reconnection
Magnetic reconnection is a universal process in space, astrophysical, and laboratory plasmas. It alters magnetic field topology and results in energy release to the plasma. Here we report the experimental resu...
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Article
Open AccessRobustness of large-area suspended graphene under interaction with intense laser
Graphene is known as an atomically thin, transparent, highly electrically and thermally conductive, light-weight, and the strongest 2D material. We investigate disruptive application of graphene as a target of...
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Article
Open AccessMicron-scale phenomena observed in a turbulent laser-produced plasma
Turbulence is ubiquitous in the universe and in fluid dynamics. It influences a wide range of high energy density systems, from inertial confinement fusion to astrophysical-object evolution. Understanding this...
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Article
Autosomal dominant SPG9: intrafamilial variability and onset during pregnancy
The ALDH18A1 gene, encoding delta-1-pyrroline-5-carboxylate synthase (P5CS), is responsible for an autosomal recessive disease with severe developmental delay; more recently, ALDH18A1 was found to be responsible ...
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Article
Open AccessLaser-driven shock compression of “synthetic planetary mixtures” of water, ethanol, and ammonia
Water, methane, and ammonia are commonly considered to be the key components of the interiors of Uranus and Neptune. Modelling the planets’ internal structure, evolution, and dynamo heavily relies on the prope...
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Article
Open AccessLaboratory study of stationary accretion shock relevant to astrophysical systems
Accretion processes play a crucial role in a wide variety of astrophysical systems. Of particular interest are magnetic cataclysmic variables, where, plasma flow is directed along the star’s magnetic field lin...
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Article
Open AccessSupersonic plasma turbulence in the laboratory
The properties of supersonic, compressible plasma turbulence determine the behavior of many terrestrial and astrophysical systems. In the interstellar medium and molecular clouds, compressible turbulence plays...
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Article
Open AccessMagnetic reconnection driven by electron dynamics
Magnetic reconnections play essential roles in space, astrophysical, and laboratory plasmas, where the anti-parallel magnetic field components re-connect and the magnetic energy is converted to the plasma ener...
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Article
Open AccessAdvanced high resolution x-ray diagnostic for HEDP experiments
High resolution X-ray imaging is crucial for many high energy density physics (HEDP) experiments. Recently developed techniques to improve resolution have, however, come at the cost of a decreased field of vie...
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Article
Electron acceleration by wave turbulence in a magnetized plasma
Astrophysical shocks are commonly revealed by the non-thermal emission of energetic electrons accelerated in situ1–3. Strong shocks are expected to accelerate particles to very high energies4–6; however, they req...
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Article
Open AccessLaboratory evidence of dynamo amplification of magnetic fields in a turbulent plasma
Magnetic fields are ubiquitous in the Universe. The energy density of these fields is typically comparable to the energy density of the fluid motions of the plasma in which they are embedded, making magnetic f...
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Chapter and Conference Paper
In Situ Characterization of XFEL Beam Intensity Distribution and Focusability by High-Resolution LiF Crystal Detector
We present here a new diagnostics based on using LiF crystal detectors that are able to perform measurements an intensity distribution of X-rays beams with diameters ranging from some microns up to some centim...
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Article
Open AccessCombined genetic approaches yield a 48% diagnostic rate in a large cohort of French hearing-impaired patients
Hearing loss is the most common sensory disorder and because of its high genetic heterogeneity, implementation of Massively Parallel Sequencing (MPS) in diagnostic laboratories is greatly improving the possibi...
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Article
Open AccessComparing ataxias with oculomotor apraxia: a multimodal study of AOA1, AOA2 and AT focusing on video-oculography and alpha-fetoprotein
Whether the recessive ataxias, Ataxia with oculomotor apraxia type 1 (AOA1) and 2 (AOA2) and Ataxia telangiectasia (AT), can be distinguished by video-oculography and alpha-fetoprotein level remains unknown. W...
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Article
Deciphering the causes of sporadic late-onset cerebellar ataxias: a prospective study with implications for diagnostic work
The management of sporadic late-onset cerebellar ataxias represents a very heterogeneous group of patients and remains a challenge for neurologist in clinical practice. We aimed at describing the different cau...
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Article
Open AccessNDEL1-PDGFRB fusion gene in a myeloid malignancy with eosinophilia associated with resistance to tyrosine kinase inhibitors
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Article
Open AccessScaled laboratory experiments explain the kink behaviour of the Crab Nebula jet
The remarkable discovery by the Chandra X-ray observatory that the Crab nebula’s jet periodically changes direction provides a challenge to our understanding of astrophysical jet dynamics. It has been suggeste...
