Výsledky vyhledávání - "Kawtar Bouya-Ahmed"

hnRNPA2B1 and hnRNPA1 mutations are rare in patients with 'multisystem proteinopathy' and frontotemporal lobar degeneration phenotypes

Autor: Edor Kabashi, Gaël Nicolas, Alexis Brice, Agnès Camuzat, Isabelle Le Ber, Serena Lattante, Didier Hannequin, Ludmila Jornea, Inge Van Bortel, Morwena Latouche, Kawtar Bouya-Ahmed, David Wallon, Anne de Septenville

Publikováno v: Neurobiology of Aging
Neurobiology of Aging, 2014, 35 (4), pp.934.e5-6
Neurobiology of Aging, Elsevier, 2014, 35 (4), pp.934.e5-6

International audience; hnRNPA2B1 and hnRNPA1 mutations have been recently identified by exome sequencing in three families presenting with multisystem proteinopathy (MSP), a rare complex phenotype associating frontotemporal lobar degeneration (FTLD)

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6314c6d17de517dc6f4bbb972f390dba
https://unilim.hal.science/hal-01245808

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Homozygous TREM2 mutation in a family with atypical frontotemporal dementia

Autor: Bruno Dubois, Edor Kabashi, Alexis Brice, Paola Caroppo, Rita Guerreiro, Isabelle Le Ber, Anne de Septenville, Agnès Camuzat, Serena Lattante, Kawtar Bouya-Ahmed, Jose Bras, Philippe Couarch

TREM2 mutations were first identified in Nasu-Hakola disease, a rare autosomal recessive disease characterized by recurrent fractures because of bone cysts and presenile dementia. Recently, homozygous and compound heterozygous TREM2 mutations were id

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e9d17519b04444a96cc4d72fc5eae48f
http://hdl.handle.net/10807/65595

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SQSTM1 mutations in French patients with frontotemporal dementia or frontotemporal dementia with amyotrophic lateral sclerosis

Autor: Audrey Gabelle, Isabelle Le Ber, Kawtar Bouya-Ahmed, Stéphanie Millecamps, Timothée Lenglet, Agnès Camuzat, Morwena Latouche, Alexis Brice, Didier Hannequin, John Hardy, Mira Didic, Edor Kabashi, Dominique Campion, Jose Bras, Anne de Septenville, Rita Guerreiro, Gaël Nicolas

Publikováno v: JAMA neurology. 70(11)

Importance Mutations in the SQSTM1 gene, coding for p62, are a cause of Paget disease of bone and amyotrophic lateral sclerosis (ALS). Recently, SQSTM1 mutations were confirmed in ALS, and mutations were also identified in 3 patients with frontotempo

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::59a5f45211395d40b796b916e7f91b90
https://pubmed.ncbi.nlm.nih.gov/24042580

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