Clinical non-penetrance associated with biallelic mutations in the RNase H2 complex

по Crow, Yanick J
Опубликовано в: J Clin Immunol (2023)

CNS disease associated with enhanced type 1 interferon signalling

по Crow, Yanick J
Опубликовано в: Lancet Neurol (2024)

Aicardi-Goutières syndrome and related phenotypes: linking nucleic acid metabolism with autoimmunity

по Crow, Yanick J., Rehwinkel, Jan
Опубликовано 2009

cGMP-AMP synthase paves the way to autoimmunity

по Rodero, Mathieu P., Crow, Yanick J.
Опубликовано в: Proc Natl Acad Sci U S A (2015)

Type I interferon–mediated monogenic autoinflammation: The type I interferonopathies, a conceptual overview

по Rodero, Mathieu P., Crow, Yanick J.
Опубликовано в: J Exp Med (2016)

Cerebral vasculopathy is a common feature in Aicardi–Goutières syndrome associated with SAMHD1 mutations

по du Moulin, Marcel, Nürnberg, Peter, Crow, Yanick J., Rutsch, Frank
Опубликовано 2011

MDA5-Associated Neuroinflammation and the Singleton–Merten Syndrome: Two Faces of the Same Type I Interferonopathy Spectrum

по Buers, Insa, Rice, Gillian I., Crow, Yanick J., Rutsch, Frank
Опубликовано в: J Interferon Cytokine Res (2017)

Familial Blau syndrome: First molecularly confirmed report from India

по Janarthanan, Mahesh, Poddar, Chanchal, Sudharshan, S, Seabra, Luis, Crow, Yanick J
Опубликовано в: Indian J Ophthalmol (2019)

Neuromyelitis optica in a child with Aicardi-GoutiÈres syndrome

по Hacohen, Yael, Zuberi, Sameer, Vincent, Angela, Crow, Yanick J., Cordeiro, Nuno
Опубликовано в: Neurology (2015)

Teaching NeuroImages: A rare genetic cause of spastic paraparesis

по Bhattacharjee, Shakya, Siripurapu, Rekha, Swale, Andrew, Crow, Yanick J, Kobylecki, Christopher
Опубликовано в: Neurology (2024)

Development and Validation of an Ultrasensitive Single Molecule Array Digital Enzyme-linked Immunosorbent Assay for Human Interferon-α

по Llibre, Alba, Bondet, Vincent, Rodero, Mathieu P., Hunt, David, Crow, Yanick J., Duffy, Darragh
Опубликовано в: J Vis Exp (2018)

Treatment of Leukoencephalopathy With Calcifications and Cysts With Bevacizumab

по Fay, Alex J., King, Allison A., Shimony, Joshua S., Crow, Yanick J., Brunstrom-Hernandez, Jan E.
Опубликовано в: Pediatr Neurol (2017)

Further delineation of the phenotype of severe congenital neutropenia type 4 due to mutations in G6PC3

по Banka, Siddharth, Chervinsky, Elena, Newman, William G, Crow, Yanick J, Yeganeh, Shay, Yacobovich, Joanne, Donnai, Dian, Shalev, Stavit
Опубликовано 2011

Crossover trial of reverse transcriptase inhibitors in Aicardi-Goutières syndrome

по Crow, Yanick J, Briggs, Tracy A, Eleftheriou, Despina, Parida, Amitav, Battison, Claire, Giddings, Annabel, Kennel, Titouan, Parker, Richard A
Опубликовано в: Dev Med Child Neurol (2024)

A Fifth Locus for Primary Autosomal Recessive Microcephaly Maps to Chromosome 1q31

по Pattison, Lisa, Crow, Yanick J., Deeble, V. Jayne, Jackson, Andrew P., Jafri, Hussain, Rashid, Yasmin, Roberts, Emma, Woods, C. Geoffrey
Опубликовано 2000

A POT1 mutation implicates defective telomere end fill-in and telomere truncations in Coats plus

по Takai, Hiroyuki, Jenkinson, Emma, Kabir, Shaheen, Babul-Hirji, Riyana, Najm-Tehrani, Nasrin, Chitayat, David A., Crow, Yanick J., de Lange, Titia
Опубликовано в: Genes Dev (2016)

The SKIV2L RNA exosome limits activation of the RIG-I-like receptors

по Eckard, Sterling C., Rice, Gillian I., Fabre, Alexandre, Badens, Catherine, Gray, Elizabeth E., Hartley, Jane L., Crow, Yanick J., Stetson, Daniel B.
Опубликовано 2014

Elevated serum interferon-α2 associates with activity and flare risk in Juvenile-onset Systemic Lupus Erythematosus

по Natoli, Valentina, Crow, Yanick J, Hunt, David PJ, Tharmaratnam, Kukatharmini, Jorgensen, Andrea L, Beresford, Michael W, Hedrich, Christian M, Smith, Eve MD
Опубликовано в: Rheumatology (Oxford) (2024)

Modeling of TREX1-dependent autoimmune disease using human stem cells highlights L1 accumulation as a source of neuroinflammation

по Thomas, Charles A., Tejwani, Leon, Trujillo, Cleber A., Negraes, Priscilla D., Herai, Roberto H., Mesci, Pinar, Macia, Angela, Crow, Yanick J., Muotri, Alysson R.
Опубликовано в: Cell Stem Cell (2017)

Neuroradiologic patterns and novel imaging findings in Aicardi-Goutières syndrome

по La Piana, Roberta, Uggetti, Carla, Roncarolo, Federico, Vanderver, Adeline, Olivieri, Ivana, Tonduti, Davide, Helman, Guy, Balottin, Umberto, Fazzi, Elisa, Crow, Yanick J., Livingston, John, Orcesi, Simona
Опубликовано в: Neurology (2016)