Zobrazeno 1 - 10
of 97
pro vyhledávání: '"M.-T. Vanier"'
Autor:
O, Lidove, N, Belmatoug, R, Froissart, C, Lavigne, I, Durieu, K, Mazodier, C, Serratrice, C, Douillard, C, Goizet, P, Cathebras, G, Besson, Z, Amoura, A, Tazi, M, Gatfossé, S, Rivière, T, Sené, M T, Vanier, J-M, Ziza
Publikováno v:
La Revue de medecine interne. 38(5)
Acid sphingomyelinase deficiency (ASMD) is an autosomal recessive disease with a clinical spectrum ranging from a neurovisceral infantile form (Niemann-Pick disease type A) to a chronic visceral form also encountered in adults (Niemann-Pick disease t
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::f1073af3a3ae9b893e3aa7762514833f
https://pubmed.ncbi.nlm.nih.gov/27884455
https://pubmed.ncbi.nlm.nih.gov/27884455
Autor:
Peter Heutink, David J. Burn, Bernhard Landwehrmeyer, J. C. van Swieten, S. Wagner, K. A. Frey, Zygmunt Jamrozik, T. Gasser, Günter U. Höglinger, Hans A. Kretzschmar, D. Caparros-Lefebvre, A. Saint-Raymond, Zbigniew K. Wszolek, Jan Kassubek, T. Reum, Markus Otto, Markus Tolnay, A. Kazantsev, Wolfgang H. Oertel, J. J. Lucas, John C. Steele, Stacey Melquist, M. T. Vanier, Dominic C. Paviour, Anthony E. Lang, Eva Maria Mandelkow, Jean Paul G. Vonsattel, Irene Litvan, Hayrettin Tumani, Albert C. Ludolph, Patrick L. McGeer, Kurt A. Jellinger, J. G. de Yebenes, E. M. Mandelkow
Publikováno v:
Ludolph, A C, Kassubek, J, Landwehrmeyer, B G, Mandelkow, E, Mandelkow, E M, Burn, D J, Caparros-Lefebvre, D, Frey, K A, Yebenes, J G, Gasser, T, Heutink, P, Hoglinger, G, Jamrozik, Z, Jellinger, K A, Kazantsev, A, Kretzschmar, H, Lang, A E, Litvan, I, Lucas, J J, McGeer, P L, Melquist, S, Oertel, W, Otto, M, Paviour, D, Reum, T, Saint-Raymond, A, Steele, J C, Tolnay, M, Tumani, H, van Swieten, J C, Vanier, M T, Vonsattel, J P, Wagner, S & Wszolek, Z K 2009, ' Tauopathies with parkinsonism: clinical spectrum, neuropathologic basis, biological markers, and treatment options ', European Journal of Neurology, vol. 16, no. 3, pp. 297-309 . https://doi.org/10.1111/j.1468-1331.2008.02513.x
European Journal of Neurology, 16(3), 297-309. Wiley-Blackwell
European Journal of Neurology, 16(3), 297-309. Wiley-Blackwell
Tauopathies with parkinsonism represent a spectrum of disease entities unified by the pathologic accumulation of hyperphosphorylated tau protein fragments within the central nervous system. These pathologic characteristics suggest shared pathogenetic
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::19a2d869660b768d679a999d35fe2f37
https://doi.org/10.1111/j.1468-1331.2008.02513.x
https://doi.org/10.1111/j.1468-1331.2008.02513.x
Autor:
Christine R. Kaneski, Raphael Schiffmann, M. Abu Asab, M. Timmons, M. T. Vanier, Stephanie B. Seminara, John D. Heiss, M.S. van der Knaap, G. C. Zirzow, Maria Tsokos, Kondi Wong
Publikováno v:
Timmons, M, Tsokos, M, Asab, M A, Seminara, S B, Zirzow, G C, Kaneski, C R, Heiss, J D, Van Der Knaap, M S, Vanier, M T, Schiffmann, R & Wong, K 2006, ' Peripheral and central hypomyelination with hypogonadotropic hypogonadism and hypodontia ', Neurology, vol. 67, no. 11, pp. 2066-2069 . https://doi.org/10.1212/01.wnl.0000247666.28904.35
Neurology, 67(11), 2066-2069. Lippincott Williams and Wilkins
Neurology, 67(11), 2066-2069. Lippincott Williams and Wilkins
We identified four unrelated patients (three female, one male) aged 20 to 30 years with hypomyelination, pituitary hypogonadotropic hypogonadism, and hypodontia. Electron microscopy and myelin protein immunohistochemistry of sural nerves showed granu
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::40d40e35112a0441f19a2fe9b49d4d7b
https://doi.org/10.1212/01.wnl.0000247666.28904.35
https://doi.org/10.1212/01.wnl.0000247666.28904.35
Autor:
J. de Seze, Jean-Marie Cuisset, L. Tyvaert, Patrick Vermersch, M.-T. Vanier, J.-C. Turpin, T. Stojkovic
Publikováno v:
Revue Neurologique. 161:318-322
Resume Introduction La maladie de Niemann-Pick de type C (NPC) est une lipidose lysosomale a expression neuroviscerale, de transmission autosomique recessive. Observation Une patiente de 31 ans, droitiere, etait suivie pour une schizophrenie depuis l
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::1fd7a4c556275e24c9fa5026a2c3f672
https://doi.org/10.1016/s0035-3787(05)85038-6
https://doi.org/10.1016/s0035-3787(05)85038-6
Publikováno v:
Journal of Lipid Research, Vol 21, Iss 1, Pp 53-64 (1980)
The primary genetic defect underlying Krabbe disease or globoid cell leukodystrophy is considered to be a deficiency of galactosylceramide-beta-galactosidase. In the present study of the brains from 18 patients who had died from Krabbe disease at 7-3
Externí odkaz:
https://doaj.org/article/a59af681c5c4467da40ed3c66a474403
Publikováno v:
European Journal of Pediatrics. 157:45-49
An infant with an unusual clinical presentation and course of Niemann-Pick disease type C (NPC) is described. The baby presented with severe pulmonary involvement and hepatosplenomegaly at the age of 3 months and died of respiratory failure at the ag
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c51487e2a5f4fcb6e7e2f8cd8b1823f8
https://doi.org/10.1007/s004310050764
https://doi.org/10.1007/s004310050764
Publikováno v:
Journal of Inherited Metabolic Disease. 21:149-154
An 18-month-old infant presented with hypotonia, motor delay, hepatosplenomegaly, rickets and steatorrhoea. Biochemical investigations revealed typical features of Niemann-Pick disease type C. In addition, there was evidence of defective peroxisomal
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0d6d0a2a9e1bc0be85b6b43d1b70fd25
https://doi.org/10.1023/a:1005395709826
https://doi.org/10.1023/a:1005395709826
Autor:
I, Mavridou, M, Cozar, S, Douzgou, A, Xaidara, D, Lianou, M T, Vanier, E, Dimitriou, D, Grinberg, L, Vilageliu, H, Michelakakis
Publikováno v:
Clinical genetics. 85(6)
Niemann-Pick type C (NPC) disease is a rare autosomal recessive lysosomal storage disease, exhibiting an extremely heterogeneous clinical phenotype. It is a cellular lipid trafficking disorder characterized by the accumulation in the lysosomal/late e
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::d18c2512e4594393ffc1cbc7a84f3e32
https://pubmed.ncbi.nlm.nih.gov/23701245
https://pubmed.ncbi.nlm.nih.gov/23701245
Autor:
Peter G. Pentchev, Roscoe O. Brady, A Pastuszyn, J T Billheimer, Jerome F. Strauss, M T Vanier, T J Scallen, Calvin F. Roff
Publikováno v:
Journal of Biological Chemistry. 267:15902-15908
Hepatic sterol carrier protein-2 (SCP2) and sterol carrier protein-X (SCPx) levels in normal and in mutant Niemann-Pick Type C mice were determined by immunoblotting with antiserum against rat SCP2. A 14-kDa protein (SCP2) was detected in the cytosol
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::9dfa2593168dd34f2f8a47a1150bb519
https://doi.org/10.1016/s0021-9258(19)49619-1
https://doi.org/10.1016/s0021-9258(19)49619-1
Autor:
E M, Fernandez-Valero, A, Ballart, C, Iturriaga, M, Lluch, J, Macias, M T, Vanier, M, Pineda, M J, Coll
Publikováno v:
Clinical genetics. 68(3)
To better characterize Niemann-Pick type C (NPC) in Spain and improve genetic counselling, molecular analyses were carried out in 40 unrelated Spanish patients. The search identified 70/80 alleles (88%) involving 38 different NPC1 mutations, 26 of wh
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::db22d792e7194473e5454bc363293d22
https://pubmed.ncbi.nlm.nih.gov/16098014
https://pubmed.ncbi.nlm.nih.gov/16098014