Zobrazeno 1 - 10
of 176
pro vyhledávání: '"Turpin JC"'
Autor:
Jean-Claude Tabet, Carlos Afonso, Benoit Colsch, Nicole Baumann, Jacques Portoukalian, Turpin Jc
Publikováno v:
Biochimica et Biophysica Acta (BBA) - General Subjects. 1780:434-440
Metachromatic leukodystrophy (MLD) is a human autosomal recessive lysosomal neurodegenerative disorder that results from the accumulation of sulfatides in the central and peripheral nervous system. It is due to the enzyme deficiency of the sulfatide
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::cec8fafcb4344ca928e437ff4bc2ed35
https://doi.org/10.1016/j.bbagen.2007.10.004
https://doi.org/10.1016/j.bbagen.2007.10.004
Publikováno v:
Revue Neurologique. 163:919-929
Lysosomal diseases represent a large group of genetic storage disorders characterized by a defect in the catabolism of complex molecules within the lysosome. Effective treatments are now possible for some of them given progresses in bone-marrow trans
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::247aa442c410c2ae7121935ceca69784
https://doi.org/10.1016/s0035-3787(07)92635-1
https://doi.org/10.1016/s0035-3787(07)92635-1
Publikováno v:
Annales Médico-psychologiques, revue psychiatrique. 162:60-63
Resume La maladie de Niemann-Pick de type C peut etre detectee dans les services de neurologie adultes meme s’il s’agit de formes infantiles ou juveniles d’evolution prolongee. Cette affection ne peut se manifester qu’a l’adolescence ou a l
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::119ff063a6928e46d3e0dc81a9960b42
https://doi.org/10.1016/j.amp.2003.12.005
https://doi.org/10.1016/j.amp.2003.12.005
Publikováno v:
Bulletin de l'Académie Nationale de Médecine. 187:141-152
RESUME Ce n’est que depuis peu, que l’attention a ete attiree par la revelation tardive, chez l’adolescent et l’adulte, de maladies neurogenetiques d’origine metabolique. Leur presentation clinique et leur evolutivite different de celles de
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::a9020b6d506f92843e20ffaa766272d8
https://doi.org/10.1016/s0001-4079(19)34087-7
https://doi.org/10.1016/s0001-4079(19)34087-7
Publikováno v:
Journal of Physiology-Paris. 96:301-306
Metachromatic leukodystrophy (MLD) is a recessive autosomal disease which is biochemically characterized by an accumulation of sulfatides (sulfogalactosylceramides) mainly in oligodendrocytes and macrophages/microglia. The deficient enzyme is a lysos
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0bad0495b8bb7f1cc1a9f80604d24076
https://doi.org/10.1016/s0928-4257(02)00019-0
https://doi.org/10.1016/s0928-4257(02)00019-0
Autor:
Nicole Baumann, Turpin Jc
Publikováno v:
Neurochemical research. 35(12)
Stress is a word that is used very commonly. It is generally employed to design unpleasant phenomena, although it is related to a function necessary to our life. Stress in itself is not a disease. Stress is not an aggression. It is an adaptative resp
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::eb05150e02f598662360b3a08365780e
https://pubmed.ncbi.nlm.nih.gov/20978849
https://pubmed.ncbi.nlm.nih.gov/20978849
Autor:
Nicole Baumann, Turpin Jc
Publikováno v:
Revue Neurologique. 168:A115-A116
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::fe608d000644ef0267cab246992499ca
https://doi.org/10.1016/j.neurol.2012.01.295
https://doi.org/10.1016/j.neurol.2012.01.295
Autor:
Nicole Baumann, Turpin Jc
Publikováno v:
Journal of neurology. 247(10)
Leukodystrophies are genetic metabolic diseases which generally occur in early childhood at the time of myelination. Surprisingly, these diseases can also occur during adulthood. Adult forms have various clinical presentations which reflect degenerat
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c42e600d865417b291a7efb80deae394
https://pubmed.ncbi.nlm.nih.gov/11127529
https://pubmed.ncbi.nlm.nih.gov/11127529
Publikováno v:
Revue Neurologique. 163:54-55
Introduction L’imagerie medicale est une etape importante de l’examen d’un patient dement. L’atteinte de la substance blanche (leucodystrophie), meme isolee, peut etre a l’origine de troubles cognitifs et comportementaux (Filley, 1998). Obj
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::ace8109be5674dd2231b5cdd05ad8e0d
https://doi.org/10.1016/s0035-3787(07)90584-6
https://doi.org/10.1016/s0035-3787(07)90584-6
Publikováno v:
Acta Paediatrica. 91:155-156
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::e316c585b893f0a431344ea1eb6af267
https://doi.org/10.1111/j.1651-2227.2002.tb03191.x
https://doi.org/10.1111/j.1651-2227.2002.tb03191.x