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

Wang, Lu ; Li, Zhen ; Sievert, David ; Smith, Desirée E C ; Mendes, Marisa I ; Chen, Dillon Y ; Stanley, Valentina ; Ghosh, Shereen ; Wang, Yulu ; Kara, Majdi ; Aslanger, Ayca Dilruba ; Rosti, Rasim O ; Houlden, Henry ; Salomons, Gajja S ; Gleeson, Joseph G

Nature communications, 2020-08, Vol.11 (1), p.4038-4038, Article 4038 [Periódico revisado por pares]

England: Nature Publishing Group

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2
Biallelic mutations in valyl-tRNA synthetase gene VARS are associated with a progressive neurodevelopmental epileptic encephalopathy
Biallelic mutations in valyl-tRNA synthetase gene VARS are associated with a progressive neurodevelopmental epileptic encephalopathy
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Biallelic mutations in valyl-tRNA synthetase gene VARS are associated with a progressive neurodevelopmental epileptic encephalopathy

Friedman, Jennifer ; Smith, Desiree E ; Issa, Mahmoud Y ; Stanley, Valentina ; Wang, Rengang ; Mendes, Marisa I ; Wright, Meredith S ; Wigby, Kristen ; Hildreth, Amber ; Crawford, John R ; Koehler, Alanna E ; Chowdhury, Shimul ; Nahas, Shareef ; Zhai, Liting ; Xu, Zhiwen ; Lo, Wing-Sze ; James, Kiely N ; Musaev, Damir ; Accogli, Andrea ; Guerrero, Kether ; Tran, Luan T ; Omar, Tarek E I ; Ben-Omran, Tawfeg ; Dimmock, David ; Kingsmore, Stephen F ; Salomons, Gajja S ; Zaki, Maha S ; Bernard, Geneviève ; Gleeson, Joseph G

Nature communications, 2019-02, Vol.10 (1), p.707-10, Article 707 [Periódico revisado por pares]

England: Nature Publishing Group

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3
Evaluation of the Clinical Significance of homB a Novel Candidate Marker of Helicobacter pylori Strains Associated with Peptic Ulcer Disease
Evaluation of the Clinical Significance of homB a Novel Candidate Marker of Helicobacter pylori Strains Associated with Peptic Ulcer Disease
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Evaluation of the Clinical Significance of homB a Novel Candidate Marker of Helicobacter pylori Strains Associated with Peptic Ulcer Disease

Oleastro, Mónica ; Cordeiro, Rita ; Ferrand, Jonathan ; Nunes, Baltazar ; Lehours, Philippe ; Carvalho-Oliveira, Isabel ; Mendes, Ana I. ; Penque, Deborah ; Monteiro, Lurdes ; Mégraud, Francis ; Ménard, Armelle

The Journal of infectious diseases, 2008-11, Vol.198 (9), p.1379-1387 [Periódico revisado por pares]

Chicago, IL: The University of Chicago Press

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4
Dysregulated biodynamics in metabolic attractor systems precede the emergence of amyotrophic lateral sclerosis
Dysregulated biodynamics in metabolic attractor systems precede the emergence of amyotrophic lateral sclerosis
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Dysregulated biodynamics in metabolic attractor systems precede the emergence of amyotrophic lateral sclerosis

Curtin, Paul ; Austin, Christine ; Curtin, Austen ; Gennings, Chris ; Figueroa-Romero, Claudia ; Mikhail, Kristen A ; Botero, Tatiana M ; Goutman, Stephen A ; Feldman, Eva L ; Arora, Manish Mendes, Pedro

PLoS computational biology, 2020-04, Vol.16 (4), p.e1007773 [Periódico revisado por pares]

United States: Public Library of Science

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5
Biallelic variants in LARS2 and KARS cause deafness and (ovario)leukodystrophy
Biallelic variants in LARS2 and KARS cause deafness and (ovario)leukodystrophy
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Biallelic variants in LARS2 and KARS cause deafness and (ovario)leukodystrophy

van der Knaap, Marjo S ; Bugiani, Marianna ; Mendes, Marisa I ; Riley, Lisa G ; Smith, Desiree E.C ; Rudinger-Thirion, Joëlle ; Frugier, Magali ; Breur, Marjolein ; Crawford, Joanna ; van Gaalen, Judith ; Schouten, Meyke ; Willems, Marjolaine ; Waisfisz, Quinten ; Mau-Them, Frederic Tran ; Rodenburg, Richard J ; Taft, Ryan J ; Keren, Boris ; Christodoulou, John ; Depienne, Christel ; Simons, Cas ; Salomons, Gajja S ; Mochel, Fanny

Neurology, 2019-03, Vol.92 (11), p.e1225-e1237 [Periódico revisado por pares]

United States: American Academy of Neurology

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6
Bi-allelic Mutations in EPRS, Encoding the Glutamyl-Prolyl-Aminoacyl-tRNA Synthetase, Cause a Hypomyelinating Leukodystrophy
Bi-allelic Mutations in EPRS, Encoding the Glutamyl-Prolyl-Aminoacyl-tRNA Synthetase, Cause a Hypomyelinating Leukodystrophy
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Bi-allelic Mutations in EPRS, Encoding the Glutamyl-Prolyl-Aminoacyl-tRNA Synthetase, Cause a Hypomyelinating Leukodystrophy

Mendes, Marisa I. ; Gutierrez Salazar, Mariana ; Guerrero, Kether ; Thiffault, Isabelle ; Salomons, Gajja S. ; Gauquelin, Laurence ; Tran, Luan T. ; Forget, Diane ; Gauthier, Marie-Soleil ; Waisfisz, Quinten ; Smith, Desiree E.C. ; Simons, Cas ; van der Knaap, Marjo S. ; Marquardt, Iris ; Lemes, Aida ; Mierzewska, Hanna ; Weschke, Bernhard ; Koehler, Wolfgang ; Coulombe, Benoit ; Wolf, Nicole I. ; Bernard, Geneviève

American journal of human genetics, 2018-04, Vol.102 (4), p.676-684 [Periódico revisado por pares]

United States: Elsevier Inc

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7
FARS1‐related disorders caused by bi‐allelic mutations in cytosolic phenylalanyl‐tRNA synthetase genes: Look beyond the lungs
FARS1‐related disorders caused by bi‐allelic mutations in cytosolic phenylalanyl‐tRNA synthetase genes: Look beyond the lungs
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FARS1‐related disorders caused by bi‐allelic mutations in cytosolic phenylalanyl‐tRNA synthetase genes: Look beyond the lungs

Schuch, Luise A. ; Forstner, Maria ; Rapp, Christina K. ; Li, Yang ; Smith, Desiree E. C. ; Mendes, Marisa I. ; Delhommel, Florent ; Sattler, Michael ; Emiralioğlu, Nagehan ; Taskiran, Ekim Z. ; Orhan, Diclehan ; Kiper, Nural ; Rohlfs, Meino ; Jeske, Tim ; Hastreiter, Maximilian ; Gerstlauer, Michael ; Torrent‐Vernetta, Alba ; Moreno‐Galdó, Antonio ; Kammer, Birgit ; Brasch, Frank ; Reu‐Hofer, Simone ; Griese, Matthias

Clinical genetics, 2021-06, Vol.99 (6), p.789-801 [Periódico revisado por pares]

Oxford, UK: Blackwell Publishing Ltd

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8
Rescue of respiratory failure in pulmonary alveolar proteinosis due to pathogenic MARS1 variants
Rescue of respiratory failure in pulmonary alveolar proteinosis due to pathogenic MARS1 variants
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Rescue of respiratory failure in pulmonary alveolar proteinosis due to pathogenic MARS1 variants

Lenz, Dominic ; Stahl, Mirjam ; Seidl, Elias ; Schöndorf, Dominik ; Brennenstuhl, Heiko ; Gesenhues, Florian ; Heinzmann, Tina ; Longerich, Thomas ; Mendes, Marisa I. ; Prokisch, Holger ; Salomons, Gajja S. ; Schön, Carola ; Smith, Desirée E. C. ; Sommerburg, Olaf ; Wagner, Matias ; Westhoff, Jens H. ; Reiter, Karl ; Staufner, Christian ; Griese, Matthias

Pediatric pulmonology, 2020-11, Vol.55 (11), p.3057-3066 [Periódico revisado por pares]

United States: Wiley Subscription Services, Inc

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9
Clinically Distinct Phenotypes of Canavan Disease Correlate with Residual Aspartoacylase Enzyme Activity
Clinically Distinct Phenotypes of Canavan Disease Correlate with Residual Aspartoacylase Enzyme Activity
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Clinically Distinct Phenotypes of Canavan Disease Correlate with Residual Aspartoacylase Enzyme Activity

Mendes, Marisa I ; Smith, Desirée EC ; Pop, Ana ; Lennertz, Pascal ; Fernandez Ojeda, Matilde R ; Kanhai, Warsha A ; Dooren, Silvy JM ; Anikster, Yair ; Barić, Ivo ; Boelen, Caroline ; Campistol, Jaime ; Boer, Lonneke ; Kariminejad, Ariana ; Kayserili, Hulya ; Roubertie, Agathe ; Verbruggen, Krijn T ; Vianey‐Saban, Christine ; Williams, Monique ; Salomons, Gajja S

Human mutation, 2017-05, Vol.38 (5), p.524-531 [Periódico revisado por pares]

United States: Hindawi Limited

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10
Streptococcus pneumoniae Serotype 3 in Mexico (1994 to 2017): Decrease of the Unusual Clonal Complex 4909 Lineage following PCV13 Introduction
Streptococcus pneumoniae Serotype 3 in Mexico (1994 to 2017): Decrease of the Unusual Clonal Complex 4909 Lineage following PCV13 Introduction
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Streptococcus pneumoniae Serotype 3 in Mexico (1994 to 2017): Decrease of the Unusual Clonal Complex 4909 Lineage following PCV13 Introduction

Echániz-Aviles, Gabriela ; Guerreiro, Soraia I ; Silva-Costa, Catarina ; Mendes, Catarina I ; Carriço, João André ; Carnalla-Barajas, María Noemí ; Soto-Noguerón, Araceli ; Velazquez-Meza, Maria Elena ; Melo-Cristino, José ; Luévanos-Velazquez, Antonio ; Martínez-Medina, Lucía ; Vázquez-Larios, María Del Rosario ; Ramirez, Mário Richter, Sandra S.

Journal of clinical microbiology, 2019-01, Vol.57 (1) [Periódico revisado por pares]

United States: American Society for Microbiology

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