Zobrazeno 1 - 10
of 17
pro vyhledávání: '"Jean-François Foncin"'
Autor:
N. Delasnerie-Laupretre, Khalid Hamid El Hachimi, Jean-François Foncin, Luc Defebvre, Isabelle Durieux, Pascaline Thuillet, Katell Peoc'h, Alain Destée, Jean-Louis Laplanche
Publikováno v:
Brain. 122:2375-2386
In five generations of the French M-E kindred, 11 members are now known to be or have been affected by a form of spongiform encephalopathy previously recorded as Gerstmann-Sträussler-Scheinker disease. Mean age at onset was 28 years (range 21-34 yea
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5902cf3e104f57d31b983337b30cb0d3
https://doi.org/10.1093/brain/122.12.2375
https://doi.org/10.1093/brain/122.12.2375
Autor:
Jean-François Foncin, K. Hamid El Hachimi, Denise Salmon, Giorgio Gei, Janine Perre, Maria Paola Montesi, Amalia C. Bruni
Publikováno v:
Journal of Geriatric Psychiatry and Neurology. 5:126-131
In an Italian kindred (family N), early onset Alzheimer's disease has been transmitted in a Mendelian autosomal fashion since the early 18th century. The age at death of affected members of the family varies widely, and was taken as an index of the a
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5b2225c881c73e4d2d0489fb61a100db
https://doi.org/10.1177/002383099200500301
https://doi.org/10.1177/002383099200500301
Autor:
Jean-François Foncin
Publikováno v:
Alzheimer: 100 Years and Beyond ISBN: 9783540376514
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::fc8bb3426553b979868b891b37656489
https://doi.org/10.1007/978-3-540-37652-1_26
https://doi.org/10.1007/978-3-540-37652-1_26
Autor:
Evelyne Heyer, Cesare Perri, Bruno Toupance, Jean-François Foncin, Ornella De Vito, Amalia C. Bruni
Publikováno v:
European Journal of Human Genetics
European Journal of Human Genetics, Nature Publishing Group, 2003, 11 (8), pp.597-602. ⟨10.1038/sj.ejhg.5201001⟩
European Journal of Human Genetics, Nature Publishing Group, 2003, 11 (8), pp.597-602. ⟨10.1038/sj.ejhg.5201001⟩
International audience; Manic depressive illness (MDI) segregates within a founder population originating from S, a mountain village in Southern Italy. Identity by descent of affected persons cannot be established by direct genealogical methods. A 56
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3f3202df3e5ba9649276f9b48db514b0
https://hal.archives-ouvertes.fr/hal-00480601
https://hal.archives-ouvertes.fr/hal-00480601
Autor:
Ricardo E. Jorge, Eduardo M. Castaño, Ekaterina Rogaeva, Peter St George-Hyslop, K. Hamid El Hachimi, Robert G. Robinson, Amalia C. Bruni, Carlos Perandones, Carlos A. Mangone, Jean-François Foncin
Publikováno v:
The Journal of neuropsychiatry and clinical neurosciences. 12(3)
At least 30 different missense mutations have been identified within the presenilin 1 (PS1) gene in pedigrees transmitting familial Alzheimer's disease. The authors investigated the clinical and pathological features of affected members of two pedigr
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::cfe529c6cffc09fb46beabf334908055
https://pubmed.ncbi.nlm.nih.gov/10956569
https://pubmed.ncbi.nlm.nih.gov/10956569
Publikováno v:
Experimental neurology. 154(1)
Although gray matter lesions involving neurones and astrocytes are prominent in human transmissible spongiform encephalopathies (TSE), white matter lesions have also been occasionally observed. Secondary (Wallerian) degeneration and direct myelin dam
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e4453be98c71ab4792ec9421ffa197ef
https://pubmed.ncbi.nlm.nih.gov/9875264
https://pubmed.ncbi.nlm.nih.gov/9875264
Autor:
Lisa M. McShane, George H. Collins, Paul Brown, Jean-François Foncin, Lev G. Goldfarb, D. Carleton Gajdusek, Frank O. Bastian, Larisa Cervenakova, Paul Kleihues
Publikováno v:
Prions and Brain Diseases in Animals and Humans ISBN: 9781489918987
Two different expressed polymorphisms have been identified in the chomosome 20 (PRNP) gene encoding the amyloid precursor protein of infectious cerebral amyloidosis: codon 129 may specify either methionine or valine (at an allelic ratio of 0.62 to 0.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::1adbc188e750028f8faf64c95bd7f9ff
https://doi.org/10.1007/978-1-4899-1896-3_2
https://doi.org/10.1007/978-1-4899-1896-3_2
Publikováno v:
Comptes rendus de l'Academie des sciences. Serie III, Sciences de la vie. 320(4)
A woman, aged 59 years, underwent a cortical biopsy that led to the diagnosis of Creutzfeldt-Jakob disease (CJD). A man, aged 46 years, underwent cranial surgery in the same department 3 days later for brain contusion, with an uneventful recovery. Tw
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::bc2927d83ce7ae80927aec09e875cb7e
https://pubmed.ncbi.nlm.nih.gov/9183437
https://pubmed.ncbi.nlm.nih.gov/9183437
Autor:
Alexandre Jaegly, Dominique Dormont, Corinne Ida Lasmézas, Jean-François Foncin, Jean-Philippe Deslys, Heino Diringer, Thierry Billette de Villemeur, DavidM. Taylor
Publikováno v:
The Lancet. 347:1332-1333
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::6057be3c06479fc85c45f61b4a8c4676
https://doi.org/10.1016/s0140-6736(96)90979-4
https://doi.org/10.1016/s0140-6736(96)90979-4
Publikováno v:
European Journal of Human Genetics. 3:203-204
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::cdcc4b8715bbeea2286315c4c4b55c8a
https://doi.org/10.1159/000472296
https://doi.org/10.1159/000472296