Suchergebnisse - Crow, Yanick J

Clinical non-penetrance associated with biallelic mutations in the RNase H2 complex von Crow, Yanick J

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CNS disease associated with enhanced type 1 interferon signalling von Crow, Yanick J

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Aicardi-Goutières syndrome and related phenotypes: linking nucleic acid metabolism with autoimmunity von Crow, Yanick J., Rehwinkel, Jan

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Type I interferon–mediated monogenic autoinflammation: The type I interferonopathies, a conceptual overview von Rodero, Mathieu P., Crow, Yanick J.

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The type I interferonopathies: 10 years on von Crow, Yanick J., Stetson, Daniel B.

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Mitochondrial Nucleic Acid as a Driver of Pathogenic Type I Interferon Induction in Mendelian Disease von Lepelley, Alice, Wai, Timothy, Crow, Yanick J.

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Cerebral vasculopathy is a common feature in Aicardi–Goutières syndrome associated with SAMHD1 mutations von du Moulin, Marcel, Nürnberg, Peter, Crow, Yanick J., Rutsch, Frank

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MDA5-Associated Neuroinflammation and the Singleton–Merten Syndrome: Two Faces of the Same Type I Interferonopathy Spectrum von Buers, Insa, Rice, Gillian I., Crow, Yanick J., Rutsch, Frank

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Familial Blau syndrome: First molecularly confirmed report from India von Janarthanan, Mahesh, Poddar, Chanchal, Sudharshan, S, Seabra, Luis, Crow, Yanick J

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Neuromyelitis optica in a child with Aicardi-GoutiÈres syndrome von Hacohen, Yael, Zuberi, Sameer, Vincent, Angela, Crow, Yanick J., Cordeiro, Nuno

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Teaching NeuroImages: A rare genetic cause of spastic paraparesis von Bhattacharjee, Shakya, Siripurapu, Rekha, Swale, Andrew, Crow, Yanick J, Kobylecki, Christopher

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Development and Validation of an Ultrasensitive Single Molecule Array Digital Enzyme-linked Immunosorbent Assay for Human Interferon-α von Llibre, Alba, Bondet, Vincent, Rodero, Mathieu P., Hunt, David, Crow, Yanick J., Duffy, Darragh

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Treatment of Leukoencephalopathy With Calcifications and Cysts With Bevacizumab von Fay, Alex J., King, Allison A., Shimony, Joshua S., Crow, Yanick J., Brunstrom-Hernandez, Jan E.

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Baricitinib Treatment in RNU7-1-Associated Aicardi–Goutières Syndrome in a South African Child: A Case Report von Spracklen, Timothy F., Akhalwaya, Shehnaaz, Ackermann, Sally, Uggenti, Carolina, Seabra, Luis, Crow, Yanick J., Webb, Kate

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Global mapping of RNA homodimers in living cells von Gabryelska, Marta M., Badrock, Andrew P., Lau, Jian You, O'Keefe, Raymond T., Crow, Yanick J., Kudla, Grzegorz

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Further delineation of the phenotype of severe congenital neutropenia type 4 due to mutations in G6PC3 von Banka, Siddharth, Chervinsky, Elena, Newman, William G, Crow, Yanick J, Yeganeh, Shay, Yacobovich, Joanne, Donnai, Dian, Shalev, Stavit

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Crossover trial of reverse transcriptase inhibitors in Aicardi-Goutières syndrome von Crow, Yanick J, Briggs, Tracy A, Eleftheriou, Despina, Parida, Amitav, Battison, Claire, Giddings, Annabel, Kennel, Titouan, Parker, Richard A

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A Fifth Locus for Primary Autosomal Recessive Microcephaly Maps to Chromosome 1q31 von Pattison, Lisa, Crow, Yanick J., Deeble, V. Jayne, Jackson, Andrew P., Jafri, Hussain, Rashid, Yasmin, Roberts, Emma, Woods, C. Geoffrey

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Novel compound heterozygous STN1 variants are associated with Coats Plus syndrome von Acharya, Tanvi, Firth, Helen V., Dugar, Shilpa, Grammatikopoulos, Tassos, Seabra, Luis, Walters, Angharad, Crow, Yanick J., Parker, Alasdair P. J.

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A POT1 mutation implicates defective telomere end fill-in and telomere truncations in Coats plus von Takai, Hiroyuki, Jenkinson, Emma, Kabir, Shaheen, Babul-Hirji, Riyana, Najm-Tehrani, Nasrin, Chitayat, David A., Crow, Yanick J., de Lange, Titia

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