Marisa I. Mendes

发表

A bi‐allelic loss‐of‐function SARS1 variant in children with neurodevelopmental delay, deafness, cardiomyopathy, and decompensation during fever

E. Schmitt, J. Rivière, J. Thevenon, 2021, Human mutation.

WARS1 and SARS1: Two tRNA synthetases implicated in autosomal recessive microcephaly

M. Spielmann, A. Zibat, J. Altmüller, 2022, Human mutation.

FARS1‐related disorders caused by bi‐allelic mutations in cytosolic phenylalanyl‐tRNA synthetase genes: Look beyond the lungs!

M. Sattler, F. Delhommel, N. Kiper, 2021, Clinical genetics.

De Novo and Bi-allelic Pathogenic Variants in NARS1 Cause Neurodevelopmental Delay Due to Toxic Gain-of-Function and Partial Loss-of-Function Effects.

R. Pfundt, C. Cytrynbaum, J. Vincent, 2020, American journal of human genetics.

Library-based analysis reveals segment and length dependent characteristics of defective influenza genomes

Alistair B. Russell, Marisa Mendes, Marisa I. Mendes, 2021, bioRxiv.

Clinically Distinct Phenotypes of Canavan Disease Correlate with Residual Aspartoacylase Enzyme Activity

Yair Anikster, H. Kayserili, Y. Anikster, 2017, Human mutation.

RARS1‐related hypomyelinating leukodystrophy: Expanding the spectrum

E. Bertini, A. Vanderver, N. Brunetti‐Pierri, 2019, Annals of clinical and translational neurology.

A Hypomorphic Dars1D367Y Model Recapitulates Key Aspects of the Leukodystrophy HBSL

A. Bongers, Dominik Fröhlich, M. Klugmann, 2021, Frontiers in Cellular Neuroscience.

Reduced response of Cystathionine Beta-Synthase (CBS) to S-Adenosylmethionine (SAM): Identification and functional analysis of CBS gene mutations in Homocystinuria patients

R. Ramos, I. Rivera, H. Blom, 2014, Journal of Inherited Metabolic Disease.

A liquid chromatography mass spectrometry method for the measurement of cystathionine β-synthase activity in cell extracts.

H. Blom, L. Kluijtmans, M. Janssen, 2012, Journal of chromatography. B, Analytical technologies in the biomedical and life sciences.

Expanded phenotype of AARS1-related white matter disease

A. Vanderver, R. Schiffmann, R. Carrozzo, 2021, Genetics in Medicine.

Treatment of ARS deficiencies with specific amino acids

C. V. van Karnebeek, E. Nieuwenhuis, H. Rehmann, 2021, Genetics in Medicine.

Infantile Liver Failure Syndrome 1 associated with a novel variant of the LARS1 gene: Clinical, genetic, and functional characterization

M. Genuardi, G. Salomons, S. Costa, 2020, Clinical genetics.

Rescue of respiratory failure in pulmonary alveolar proteinosis due to pathogenic MARS1 variants

H. Prokisch, O. Sommerburg, M. Griese, 2020, Pediatric pulmonology.

Genotypic diversity and phenotypic spectrum of infantile liver failure syndrome type 1 due to variants in LARS1

J. Rosenfeld, J. Lupski, D. Horn, 2020, Genetics in Medicine.

NO• Binds Human Cystathionine β-Synthase Quickly and Tightly*

J. B. Vicente, P. Sarti, P. Leandro, 2014, The Journal of Biological Chemistry.

Conclusion: Results support the physiological role of NO in CBS regulation. Significance: CBS may integrate the cross-talk among NO, CO, and H2S, major modulators in human (patho)physiology.

P. Sarti, P. Leandro, A. Giuffrè, 2014 .

Biallelic mutations in valyl-tRNA synthetase gene VARS are associated with a progressive neurodevelopmental epileptic encephalopathy

Kiely N. James, S. Kingsmore, S. Chowdhury, 2019, Nature Communications.

Cysteinyl-tRNA Synthetase Mutations Cause a Multi-System, Recessive Disease That Includes Microcephaly, Developmental Delay, and Brittle Hair and Nails.

W. Gahl, G. Mancini, W. Vermeulen, 2019, American journal of human genetics.

Loss of NARS1 impairs progenitor proliferation in cortical brain organoids and leads to microcephaly

Dillon Y. Chen, J. Gleeson, H. Houlden, 2020, Nature Communications.

Bi-allelic TARS Mutations Are Associated with Brittle Hair Phenotype.

S. Bione, P. J. van der Spek, J. Hoeijmakers, 2019, American journal of human genetics.