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Immunity|August 1, 2020
Flexible Usage and Interconnectivity of Diverse Cell Death Pathways Protect against Intracellular InfectionMarcel Doerflinger, Yexuan Deng, Paul Whitney, et al.
Orphanet Journal of Rare Diseases|August 8, 2020
Correction to: Consensus guideline for the diagnosis and treatment of tetrahydrobiopterin (BH4) deficienciesThomas Opladen, Eduardo López-Laso, Elisenda Cortès-Saladelafont, et al.
The EMBO Journal|January 17, 2023
Caspase-8-driven apoptotic and pyroptotic crosstalk causes cell death and IL-1β release in X-linked inhibitor of apoptosis (XIAP) deficiencySebastian A Hughes, Meng Lin, Ashley Weir, et al.
Nature Communications|September 21, 2021
Insights into the expanding phenotypic spectrum of inherited disorders of biogenic aminesOya Kuseyri Hübschmann, Gabriella Horvath, Elisenda Cortès-Saladelafont, et al.
The Lancet. Microbe|January 3, 2022
Immunomics-guided discovery of serum and urine antibodies for diagnosing urogenital schistosomiasis: a biomarker identification studyMark S Pearson, Bemnet A Tedla, Gebeyaw G Mekonnen, et al.
Movement Disorders : Official Journal of the Movement Disorder Society|July 1, 2010
Definition and classification of hyperkinetic movements in childhoodTerence D Sanger, Daofen Chen, Darcy L Fehlings, et al.
Nature Communications|September 28, 2023
A common human MLKL polymorphism confers resistance to negative regulation by phosphorylationSarah E Garnish, Katherine R Martin, Maria Kauppi, et al.
Journal of Inherited Metabolic Disease|July 10, 2021
Assessment of intellectual impairment, health-related quality of life, and behavioral phenotype in patients with neurotransmitter related disorders: Data from the iNTD registryMareike Keller, Heiko Brennenstuhl, Oya Kuseyri Hübschmann, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|July 16, 2023
Clinical, neuroradiological, and molecular characterization of mitochondrial threonyl-tRNA-synthetase (TARS2)-related disorderAndrea Accogli, Sheng-Jia Lin, Mariasavina Severino, et al.
Brain : a Journal of Neurology|September 26, 2020
Defining the clinical, molecular and imaging spectrum of adaptor protein complex 4-associated hereditary spastic paraplegiaDarius Ebrahimi-Fakhari, Julian Teinert, Robert Behne, et al.
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