John Christodoulou

1. The Genetic Landscape and Epidemiology of Phenylketonuria
   2020/07/14 by Alicia Hillert, Yair Anikster, Amaya Belanger-Quintana +57 · 30 citations
   Biochemistry, Genetics and Molecular Biology · Medicine · #Metabolism and Genetic Disorders #Folate and B Vitamins Research #Amino Acid Enzymes and Metabolism
2. Mapping Long-Range Interactions in α-Synuclein using Spin-Label NMR and Ensemble Molecular Dynamics Simulations
   2004/12/21 by Matthew M. Dedmon, Kresten Lindorff‐Larsen, John Christodoulou +2 · 1 voice · 4 citations
   Medicine · Biochemistry, Genetics and Molecular Biology · #Parkinson's Disease Mechanisms and Treatments #Electron Spin Resonance Studies #Advanced MRI Techniques and Applications
3. A common form of dominant human IFNAR1 deficiency impairs IFN-α and -ω but not IFN-β-dependent immunity
   2024/12/16 by Fahd Al Qureshah, Jérémie Le Pen, Nicole A. de Weerd +91 · 3 voices · 1 citation
   Immunology and Microbiology · #interferon and immune responses #Immune Cell Function and Interaction #Immunodeficiency and Autoimmune Disorders
4. Biallelic variants in <i>LARS2</i> and <i>KARS</i> cause deafness and (ovario)leukodystrophy
   2019/02/09 by Marjo S. van der Knaap, Marianna Bugiani, Marisa I. Mendes +22 · 1 citation
   Biochemistry, Genetics and Molecular Biology · #Mitochondrial Function and Pathology #RNA and protein synthesis mechanisms #RNA modifications and cancer
5. Germline variants in tumor suppressor FBXW7 lead to impaired ubiquitination and a neurodevelopmental syndrome
   2022/04/01 by Sarah Stephenson, Sarah E.M. Stephenson, Gregory Costain +127 · 20 citations
   Biochemistry, Genetics and Molecular Biology · #Genomic variations and chromosomal abnormalities #Genetics and Neurodevelopmental Disorders #Ubiquitin and proteasome pathways
6. <i>ALG13</i> X‐linked intellectual disability: New variants, glycosylation analysis, and expanded phenotypes
   2021/03/18 by Hind Alsharhan, Miao He, Andrew C. Edmondson +30 · 1 citation
   Biochemistry, Genetics and Molecular Biology · #Biochemical and Molecular Research #Genomics and Rare Diseases #Glycosylation and Glycoproteins Research
7. The clinical and genetic spectrum of autosomal-recessive <i>TOR1A</i>-related disorders
   2023/02/06 by Afshin Saffari, Tracy Lau, Homa Tajsharghi +129 · 8 citations
   Medicine · Biochemistry, Genetics and Molecular Biology · #Neurogenetic and Muscular Disorders Research #Neurological disorders and treatments #RNA regulation and disease