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Diana Rodriguez

Researcher at University of Paris

Publications -  150
Citations -  8373

Diana Rodriguez is an academic researcher from University of Paris. The author has contributed to research in topics: Leukodystrophy & Ataxia. The author has an hindex of 42, co-authored 145 publications receiving 7084 citations. Previous affiliations of Diana Rodriguez include Pierre-and-Marie-Curie University & French Institute of Health and Medical Research.

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Journal ArticleDOI

Mutations in GFAP, encoding glial fibrillary acidic protein, are associated with Alexander disease.

TL;DR: Sequence analysis of DNA samples from patients representing different Alexander disease phenotypes revealed that most cases are associated with non-conservative mutations in the coding region of GFAP, the first example of a primary genetic disorder of astrocytes, one of the major cell types in the vertebrate CNS.
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Gain-of-function mutations in IFIH1 cause a spectrum of human disease phenotypes associated with upregulated type I interferon signaling

Gillian I. Rice, +56 more
- 01 May 2014 - 
TL;DR: It is demonstrated that aberrant sensing of nucleic acids can cause immune upregulation and heterozygous mutations in the cytosolic double-stranded RNA receptor gene IFIH1 (also called MDA5) cause a spectrum of neuroimmunological features consistently associated with an enhanced interferon state.
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Characterization of human disease phenotypes associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, ADAR, and IFIH1.

Yanick J. Crow, +135 more
TL;DR: A robust relationship between mutations in all seven genes with increased type I interferon activity in cerebrospinal fluid and serum, and the increased expression of interferOn‐stimulated gene transcripts in peripheral blood is observed.
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Penumbral imaging and functional outcome in patients with anterior circulation ischaemic stroke treated with endovascular thrombectomy versus medical therapy: a meta-analysis of individual patient-level data

Bruce C.V. Campbell, +1296 more
- 01 Jan 2019 - 
TL;DR: Estimated ischaemic core volume was independently associated with functional independence and functional improvement but did not modify the treatment benefit of endovascular thrombectomy over standard medical therapy for improved functional outcome.