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Pediatric Neurology
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May 25, 2020
Epilepsy and Electroencephalographic Abnormalities in SATB2-Associated Syndrome
Hannah Lewis, Debopam Samanta, Jenny-Li Örsell, et al.
Arthritis & Rheumatology (Hoboken, N.J.)
|
March 22, 2022
The 2021 European Alliance of Associations for Rheumatology/American College of Rheumatology Points to Consider for Diagnosis and Management of Autoinflammatory Type I Interferonopathies: CANDLE/PRAAS, SAVI, and AGS
Kader Cetin Gedik, Lovro Lamot, Micol Romano, et al.
Annals of the Rheumatic Diseases
|
January 28, 2022
The 2021 European Alliance of Associations for Rheumatology/American College of Rheumatology points to consider for diagnosis and management of autoinflammatory type I interferonopathies: CANDLE/PRAAS, SAVI and AGS
Kader Cetin Gedik, Lovro Lamot, Micol Romano, et al.
JAMA Neurology
|
April 4, 2022
Association of Maintenance Intravenous Immunoglobulin With Prevention of Relapse in Adult Myelin Oligodendrocyte Glycoprotein Antibody-Associated Disease
John J Chen, Saif Huda, Yael Hacohen, et al.
Nature Communications
|
May 28, 2016
Mutations in SLC39A14 disrupt manganese homeostasis and cause childhood-onset parkinsonism-dystonia
Karin Tuschl, Esther Meyer, Leonardo E Valdivia, et al.
American Journal of Human Genetics
|
July 27, 2021
TNPO2 variants associate with human developmental delays, neurologic deficits, and dysmorphic features and alter TNPO2 activity in Drosophila
Lindsey D Goodman, Heidi Cope, Zelha Nil, et al.
Annals of Clinical and Translational Neurology
|
August 5, 2024
Application of the international criteria for optic neuritis in the Acute Optic Neuritis Network
Philipp Klyscz, Susanna Asseyer, Ricardo Alonso, et al.
Neuropediatrics
|
June 1, 2017
Genetic, Phenotypic, and Interferon Biomarker Status in ADAR1-Related Neurological Disease
Gillian I Rice, Naoki Kitabayashi, Magalie Barth, et al.
Nature Genetics
|
April 2, 2014
Gain-of-function mutations in IFIH1 cause a spectrum of human disease phenotypes associated with upregulated type I interferon signaling
Gillian I Rice, Yoandris Del Toro Duany, Emma M Jenkinson, et al.
The Lancet. Neurology
|
November 5, 2013
Assessment of interferon-related biomarkers in Aicardi-Goutières syndrome associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, and ADAR: a case-control study
Gillian I Rice, Gabriella M A Forte, Marcin Szynkiewicz, et al.
Page
of 36
Search research articles
Search
Showing results (331-340 of 353) with videos related to
Sort By:
Page
of 36
Pediatric Neurology
|
May 25, 2020
Epilepsy and Electroencephalographic Abnormalities in SATB2-Associated Syndrome
Hannah Lewis, Debopam Samanta, Jenny-Li Örsell, et al.
Arthritis & Rheumatology (Hoboken, N.J.)
|
March 22, 2022
The 2021 European Alliance of Associations for Rheumatology/American College of Rheumatology Points to Consider for Diagnosis and Management of Autoinflammatory Type I Interferonopathies: CANDLE/PRAAS, SAVI, and AGS
Kader Cetin Gedik, Lovro Lamot, Micol Romano, et al.
Annals of the Rheumatic Diseases
|
January 28, 2022
The 2021 European Alliance of Associations for Rheumatology/American College of Rheumatology points to consider for diagnosis and management of autoinflammatory type I interferonopathies: CANDLE/PRAAS, SAVI and AGS
Kader Cetin Gedik, Lovro Lamot, Micol Romano, et al.
JAMA Neurology
|
April 4, 2022
Association of Maintenance Intravenous Immunoglobulin With Prevention of Relapse in Adult Myelin Oligodendrocyte Glycoprotein Antibody-Associated Disease
John J Chen, Saif Huda, Yael Hacohen, et al.
Nature Communications
|
May 28, 2016
Mutations in SLC39A14 disrupt manganese homeostasis and cause childhood-onset parkinsonism-dystonia
Karin Tuschl, Esther Meyer, Leonardo E Valdivia, et al.
American Journal of Human Genetics
|
July 27, 2021
TNPO2 variants associate with human developmental delays, neurologic deficits, and dysmorphic features and alter TNPO2 activity in Drosophila
Lindsey D Goodman, Heidi Cope, Zelha Nil, et al.
Annals of Clinical and Translational Neurology
|
August 5, 2024
Application of the international criteria for optic neuritis in the Acute Optic Neuritis Network
Philipp Klyscz, Susanna Asseyer, Ricardo Alonso, et al.
Neuropediatrics
|
June 1, 2017
Genetic, Phenotypic, and Interferon Biomarker Status in ADAR1-Related Neurological Disease
Gillian I Rice, Naoki Kitabayashi, Magalie Barth, et al.
Nature Genetics
|
April 2, 2014
Gain-of-function mutations in IFIH1 cause a spectrum of human disease phenotypes associated with upregulated type I interferon signaling
Gillian I Rice, Yoandris Del Toro Duany, Emma M Jenkinson, et al.
The Lancet. Neurology
|
November 5, 2013
Assessment of interferon-related biomarkers in Aicardi-Goutières syndrome associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, and ADAR: a case-control study
Gillian I Rice, Gabriella M A Forte, Marcin Szynkiewicz, et al.
Page
of 36