Splicing variants in NARS2 are associated with milder phenotypes and intra-familial variability

Autor: Ait-El-Mkadem Saadi, Samira, Kaphan, Elsa, Morales Jaurrieta, Amaya, Fragaki, Konstantina, Chaussenot, Annabelle, Bannwarth, Sylvie, Maues De Paula, André, Paquis-Flucklinger, Véronique, Rouzier, Cécile

Publikováno v: In European Journal of Medical Genetics December 2022 65(12)

Outcome of deep brain stimulation in slowly progressive multiple system atrophy: A clinico-pathological series and review of the literature

Autor: Meissner, Wassilios G., Laurencin, Chloé, Tranchant, Christine, Witjas, Tatiana, Viallet, François, Guehl, Dominique, Damier, Philippe, Houeto, Jean-Luc, Tison, François, Eusebio, Alexandre, Vital, Anne, Streichenberger, Nathalie, Lannes, Béatrice, Maues de Paula, André, Thobois, Stéphane

Publikováno v: In Parkinsonism and Related Disorders March 2016 24:69-75

Induction of amyloid-β deposits from serially transmitted, histologically silent, Aβ seeds issued from human brains

Autor: Herard, Anne-Sophie, Petit, Fanny, Gary, Charlotte, Guillermier, Martine, Boluda, Susana, Garin, Clément, Lam, Suzanne, Dhenain, Marc, Letournel, Franck, Martin-Negrier, Marie-Laure, Faisant, Maxime, Godfraind, Catherine, Maurage, Claude-Alain, Deramecourt, Vincent, Duchesne, Mathilde, Meyronnet, David, Maues De Paula, André, Rigau, Valérie, Burel-Vandenbos, Fanny, Duyckaerts, Charles, Seilhean, Danielle, Plu, Isabelle, Milin, Serge, Chiforeanu, Dan Christian, Laquerriere, Annie, Lannes, Béatrice

Publikováno v: Acta Neuropathologica Communications
Acta Neuropathologica Communications, BioMed Central part of Springer Science, 2020, 8 (1), ⟨10.1186/s40478-020-01081-7⟩
Acta Neuropathologica Communications, Vol 8, Iss 1, Pp 1-10 (2020)
Acta Neuropathologica Communications, 2020, 8 (1), ⟨10.1186/s40478-020-01081-7⟩

In humans, iatrogenic transmission of cerebral amyloid-β (Aβ)-amyloidosis is suspected following inoculation of pituitary-derived hormones or dural grafts presumably contaminated with Aβ proteins as well as after cerebral surgeries. Experimentally

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a50abf11ad750a88ac8dcb97d4ac9df3
https://hal.archives-ouvertes.fr/hal-03052986/file/Herard-ActaNeuropatholCom-2020.pdf

Paravertebral Well-Differentiated Liposarcoma with Low-Grade Osteosarcomatous Component: Case Report with 11-Year Follow-Up, Radiological, Pathological, and Genetic Data, and Literature Review

Autor: Macagno, Nicolas, Fuentes, Stéphane, Pinieux, Gonzague de, Maues de Paula, André, Salas, Sébastien, Mattéi, Jean-Camille, Dupuis, Charlotte, Appay, Romain, Aurias, Alain, Dufour, Henry, Figarella-Branger, Dominique, Bouvier, Corinne

Publikováno v: Case Reports in Pathology.

Despite being one of the most frequent soft-tissue sarcomas, well-differentiated liposarcoma has never been reported near the spine. The authors present the case of a 67-year-old man with progressive history of back pain. Physical examination reveale

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=hindawi_publ::4562795592761eae542d0fa5d75f7e50

Increased prevalence of granulovacuolar degeneration in C9orf72 mutation.

Autor: Riku, Yuichi, Duyckaerts, Charles, Boluda, Susana, Plu, Isabelle, Le Ber, Isabelle, Millecamps, Stéphanie, Salachas, François, Brainbank NeuroCEB Neuropathology Network, Letournel, Franck, Martin-Négrier, Marie-Laure, Chapon, Françoise, Godfraind, Catherine, Maurage, Claude-Alain, Deramecourt, Vincent, Meyronet, David, Streichenberger, Nathalie, Maues de Paula, André, Rigau, Valérie, Vandenbos-Burel, Fanny, Milin, Serge

Publikováno v: Acta Neuropathologica; Nov2019, Vol. 138 Issue 5, p783-793, 11p