Search results for "Marie"
showing 10 items of 99 documents
Cell expression of GDAP1 in the nervous system and pathogenesis of Charcot-Marie-Tooth type 4A disease
2007
Abstract Mutations in the mitochondrial protein GDAP1 are the cause of Charcot-Marie-Tooth type 4A disease (CMT4A), a severe form of peripheral neuropathy associated with either demyelinating, axonal or intermediate pheno-types. GDAP1 is located in the outer mitochondrial membrane and it seems that may be related with the mitochondrial network dynamics. We are interested to define cell expression in the nervous system and the effect of mutations in mitochondrial morphology and pathogenesis of the disease. We investigated GDAP1 expression in the nervous system and dorsal root ganglia (DRG) neuron cultures. GDAP1 is expressed in motor and sensory neurons of the spinal cord and other large neu…
Characterization of molecular mechanisms underlying the axonal Charcot–Marie–Tooth neuropathy caused by MORC2 mutations
2019
Mutations in MORC2 lead to an axonal form of Charcot-Marie-Tooth (CMT) neuropathy type 2Z. To date, 31 families have been described with mutations in MORC2, indicating that this gene is frequently involved in axonal CMT cases. While the genetic data clearly establish the causative role of MORC2 in CMT2Z, the impact of its mutations on neuronal biology and their phenotypic consequences in patients remains to be clarified. We show that the full-length form of MORC2 is highly expressed in both embryonic and adult human neural tissues and that Morc2 expression is dynamically regulated in both the developing and the maturing murine nervous system. To determine the effect of the most common MORC2…
Fisiopatología mitocondrial en la neuropatía de Charcot-Marie-Tooth asociada al gen GDAP1
2020
Las mutaciones en el gen GDAP1, que codifica una proteína localizada en la membrana mitocondrial externa, causan la neuropatía hereditaria de Charcot-Marie-Tooth (CMT), caracterizada por una degeneración progresiva de los nervios periféricos motores y sensitivos. Hoy en día, todavía se desconocen los mecanismos celulares que desencadenan la disfunción neuronal en la enfermedad de CMT relacionada con la deficiencia de GDAP1. En este trabajo, hemos utilizado los cultivos primarios de motoneuronas de la médula espinal de ratones deficientes en GDAP1, para investigar el papel de esta proteína en la biología neuronal y dilucidar los mecanismos implicados en la fisiopatología de la enfermedad. Nu…
El esqueleto de la viuda Houet: Frenología y medicina legal en Francia durante la década de 1830
2015
This paper deals with the judicial identification of corpses in nineteenth-century France. The case of the widow Houet (1833) is particularly interesting for this purpose because two contrasting techniques of identification were employed: forensic medicine and phrenology. Mateu Orfila, dean of the Paris Faculty of Medicine, had recently developed a quantitative method for the identification of corpses, which was later regarded as a landmark in nineteenth-century forensic medicine. Pierre-Marie Dumoutier, an outstanding member of the Society of Phrenology, analysed the skull and offered surprising data about the personality of the widow. The episode stirred up controversies on the evidentiar…
Marie Mennessier-Nodier, récits et nouvelles
2019
International audience
Neuropathologic and morphometric studies in hereditary motor and sensory neuropathy type II with neurofilament accumulation.
1986
Histological, electron microscopic and morphometric data on sural nerve, muscle, and skin biopsies of three patients affected by autosomal dominant hereditary motor and sensory neuropathy type II with neurofilament accumulation, whose neurological, cardiological and electrophysiological data have been provided in a previous paper disclosed focally enlarged myelinated axons, due to aggregation of neurofilaments in sural nerves of all 3 biopsied patients, as well as densely packed clusters of filaments in occasional non-myelinated axons without axonal enlargement, in several fibroblasts and endothelial cells in muscle and particularly in skin. This accumulation of filaments was less pronounce…
Clinical spectrum of BICD2 mutations.
2020
Background and purpose Mutations in the BICD2 gene cause autosomal dominant lower extremity-predominant spinal muscular atrophy 2A (SMALED2A), a condition that is associated with a specific pattern of thigh and calf muscle involvement when studied by magnetic resonance imaging (MRI). Patients may present minor clinical sensory impairment, but objective sensory involvement has yet to be demonstrated. Methods We collected clinical data from 11 patients from five different families carrying mutations in BICD2. Genetic diagnosis was achieved using gene panel testing and skin biopsies were taken from two patients to study the epidermal nerve fiber density. Results In the studied patients, three …
Ten millennia of hepatitis B virus evolution
2021
Hepatitis B virus (HBV) has been infecting humans for millennia and remains a global health problem, but its past diversity and dispersal routes are largely unknown. We generated HBV genomic data from 137 Eurasians and Native Americans dated between ~10,500 and ~400 years ago. We date the most recent common ancestor of all HBV lineages to between ~20,000 and 12,000 years ago, with the virus present in European and South American hunter-gatherers during the early Holocene. After the European Neolithic transition, Mesolithic HBV strains were replaced by a lineage likely disseminated by early farmers that prevailed throughout western Eurasia for ~4000 years, declining around the end of the 2nd…
Sachs-Wolfe at second order: the CMB bispectrum on large angular scales
2009
We calculate the Cosmic Microwave Background anisotropy bispectrum on large angular scales in the absence of primordial non-Gaussianities, assuming exact matter dominance and extending at second order the classic Sachs-Wolfe result delta T/T = Phi/3. The calculation is done in Poisson gauge. Besides intrinsic contributions calculated at last scattering, one must consider integrated effects. These are associated to lensing, and to the time dependence of the potentials (Rees-Sciama) and of the vector and tensor components of the metric generated at second order. The bispectrum is explicitly computed in the flat-sky approximation. It scales as l(-4) in the scale invariant limit and the shape d…
Stau relic density at the big-bang nucleosynthesis era in the coannihilation scenario and a solution to theLi7problem
2010
The work of K. K. was supported in part by PPARC Grant No. PP/D000394/1, EU Grant No. MRTN-CT-2006-035863, the European Union through the Marie Curie Research and Training Network "UniverseNet," MRTN-CT-2006-035863, and Grant-in-Aid for Scientific research from the Ministry of Education, Science, Sports, and Culture, Japan (No. 18071001). The work of M. K. was supported in part by the Grant-in-Aid for the Ministry of Education, Culture, Sports, Science, and Technology, Government of Japan (No. 22740140). The work of J. S. was supported in part by the Grant-in-Aid for the Ministry of Education, Culture, Sports, Science, and Technology, Government of Japan (Nos. 20025001, 20039001, and 205402…