ALS-FTD Complex Disorder due to C9ORF72 Gene Mutation: Description of First Polish Family | Zendy

Joanna Siuda | Zendy; Tatiana Lewicka | Zendy; Malgorzata Bujak | Zendy; Grzegorz Opala | Zendy; Aleksandra Golenia | Zendy; Agnieszka Słowik | Zendy; Marka van Blitterswijk | Zendy; Matt Baker | Zendy; Nilüfer ErtekinTaner | Zendy; Zbigniew K. Wszołek | Zendy; Rosa Rademakers | Zendy

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ALS-FTD Complex Disorder due to <b><i>C9ORF72</i></b> Gene Mutation: Description of First Polish Family

Author(s) -

Joanna Siuda,

Tatiana Lewicka,

Malgorzata Bujak,

Grzegorz Opala,

Aleksandra Golenia,

Agnieszka Słowik,

Marka van Blitterswijk,

Matt Baker,

Nilüfer ErtekinTaner,

Zbigniew K. Wszołek,

Rosa Rademakers

Publication year - 2014

Publication title -

european neurology

Language(s) - English

Resource type - Journals

SCImago Journal Rank - 0.573

H-Index - 77

eISSN - 1421-9913

pISSN - 0014-3022

DOI - 10.1159/000362267

Subject(s) - c9orf72 , frontotemporal dementia , population , amyotrophic lateral sclerosis , trinucleotide repeat expansion , medicine , dementia , genetics , biology , gene , disease , allele , environmental health

Amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD) are complex neurodegenerative disorders that can be either sporadic or familial and can overlap clinically and pathologically. We present the first Central-Eastern European family with ALS-FTD syndrome due to a C9ORF72 repeat expansion.

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