Une pure merveille !
Un roman d'une grande beauté, drôle, fin, extrêmement lumineux sur des sujets difficiles : la perte de
l'être aimé, la dureté de la vie et la tristesse qu'on barricade parfois... Elise franco-japonaise,
orpheline de sa maman veut poser LA question à son père et elle en trouvera le courage au fil des pages,
grâce au retour de sa grand-mère du japon, de sa rencontre avec son extravagante amie Stella..
Ensemble il ne diront plus Sayonara mais Mata Ne !
Genetically determined myelinopathies are a large group of neurological diseases that present a challenge to the clinician, the biologist and the geneticist....
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Résumé
Genetically determined myelinopathies are a large group of neurological diseases that present a challenge to the clinician, the biologist and the geneticist. During the last decade, the development of tools for exploring the nervous-system and the human genome has had a tremendous impact on the understanding of these diseases. Thus, the advances in neuroimaging techniques and molecular genetic research are continuously influencing disease classification, diagnostic protocols, and management of patients. These topics are the focus of the présent publication. The book is developed over different sections. The basic aspects of myelin biology and their relevance to human diseases constitute the first section of the book. A second and third section deal with the clinical aspects of both defined and undefined leukoencephalopathies, and with the impact of neurophysiological and neuroimaging techniques on the diagnosis and nosology of these disorders. Hereditary disorders of peripheral myelin are reviewed in the fourth section, while the closing section focuses on crucial issues of the différent therapeutic approaches now available. The aim is to provide a comprehensive review of the most important issues regarding genetic myelin disorders.
Sommaire
Myelin genes and proteins
New biochemical markers for leukodystrophy
The developmental biology of the Schwann cell
Pelizaeus-Merzbacher disease and " hypomyelinated " leukodystrophies
Perspective in research for undefined leukoencephalopathies
Neurophysiological study of the central an peripheral nervous systems in patients with childhood leukodystrophies
Proton M
spectroscopy as a diagnostic tool in leukoencephalopathies
Experience on two recently discovered forms of undetermined leukodystrophy
Itlaian experience of leukodystrophies
Defined and undetermined forms of leukoencephalophaty in children
MRI and MRS findings in children with leukodystrophies
Molecular biology of peripheral myelin
Diagnostic approach to hereditary neuropathies
Dysmyelinating neuropathies of infancy : defined and undefined forms
Design of a therapeutic trial for diseases : the adrenoleukodystrophy model
Haematopoietic stem cell transplantation for leukodystrophies
Brain injection of rat neural progenitor cells overexpressing galactocerebrosidase does not affect the phenotype of mice with globoid cell leukodystrophy